3 Years Later and I’m Finally Ready

I cannot believe that Jack Jack will be three years old in just one week. Jack Clifford Trotter, the medical mystery of a baby who wasn’t supposed to live past infancy, is living AND thriving in a world that was not made for him. This kid’s past three years of life has lit a fire inside me that will burn until the world is accessible and accepting by nature and not as an afterthought. HOWEVER, for a very long time in the beginning of this wild rare disease ride, I was not ready to advocate outside of Jack’s hospital room or connect with other families experiencing similar situations. I was devastated, heartbroken, and just plain pissed off. Why my family and why does my baby have to suffer and die? It’s okay to be angry, upset, and sad.  I am here today to speak to all, but especially those who have felt this way or are feeling it now. IT IS OKAY TO NOT BE READY!!!!!!!!! One thing that I have learned is that I can come on strong. Thus, if you are new to our journey then it may seem like I am this hardcore advocate full of confidence and vigor. You could not describe me this way 3 year ago. I was just —thrown into a situation that I had no idea how to navigate or understand.

I have been waiting for 3 long years to view the photos that my mom took of Jack’s delivery and first few weeks of life. My mom is a lifelong photographer by hobby & talent and I really wanted some special photos in the delivery room when Jack was born because he is my second and I desperately wanted a much different experience than I had when my daughter was born. Rowan, Jack’s older sister, was whisked away to NICU immediately after birth because she aspirated meconium and was experiencing respiratory distress. You know how they say be careful what you wish for? All I wished for (aloud and in silence) was a “normal” birth experience with my new baby in my hospital room, nursing him and laying him in that clear bassinet all hospitals use. I got that experience, but three days later Jack was in a helicopter being life-flighted and having uncontrollable seizures.

As many already know, Jack was born seemingly healthy. I cannot place enough emphasis on the word SEEMINGLY because as I look at the photos I am sharing here, I can see the facial pulling to one side that soon became the signature of Jack’s seizures. To this day, if Jack is staring hard to one side or off into space then he is experiencing a seizure. The naivete I have cursed since the day Jack was born, I can finally be grateful for as I look as these photos. We were so happy. I can see a newborn not as focused as he should be and I can see seizure activity, BUT I can also see a family (two parents, a big sister, grandparents, aunts and uncles, and great-grandparents) completely smitten and in love with the new life in their presence. For a brief moment, time stood still and life was as it should be. Everyone was in awe and full of love, the true essence of life. These photos are proof of that and proof of how loved Jack has been since the day he entered the world.

As I mentioned, Jack was very sick very soon after his birth. We had three beautifully blissful days with our new son before the rug was pulled out from under us. This meant a lot of things, but one of them is that I was never able to view the photos of Jack’s birth before we received his devastating MISdiagnosis. I remember so clearly (as I was still so angry and confused) when my mom gave me a disc full of Jack’s birth photos and I told her that she might as well throw it away because I would never be able to look at those joyous after my son died. And I have never viewed them because the thought of them has always caused me pain. That is, until today when I took the disc from where I had it hidden and popped it into my computer because I was finally ready.

I see so much when I look at these photos. I see love, joy, excitement, exhaustion, apprehension, and above all else I see a family. I also see a strong mom; she is exhausted, but relieved because she thinks the hard part is over. She is me and she is not me. I have hated myself for so long for doing this to Jack, for giving him a rare genetic disorder that makes him have seizures, developmental delays, painful tests/medications, and strict restrictions. Today is the first time I have ever wanted to revisit the day that our lives changed forever. This has taken me three full years of learning, growing, and grieving. I want all caregivers, patients, and advocates to know that it is 100% OKAY if you are not ready to put yourselves out there. I had no idea what to do, where to turn, and how to survive in this world of  rare disease and disability in the beginning. I still don’t , really. I still take it day by day, but I also really feel like I have found my calling now with rare disease advocacy.

I hope that each person reading this just knows that YOU are not alone. I did feel alone for a long time, but I also wasn’t ready to embrace the reality of my son’s rare disease and what that would mean our for our family. It’s all okay, no matter what you feel. I get so many messages from people asking, “how do you do it,” and the absolute truth is that I didn’t do anything until I was ready. I started so slow with sharing our journey and trying to learn more; the advocacy work you see me doing now is new. I only started feeling ready to get out there, advocate, and learn more earlier this year. I had no clue my passion would lead me down the road it has, but I’m so glad that it has. However, as I listen to our community and hear what you all are expressing, I also feel that is important to circle back to the beginning and remind everyone that it is OKAY TO NOT BE READY!!

I want to share these raw and incredibly special photos with you all because I am finally ready. This is the first time I am viewing them and experiencing the miracle of my son all over again. Happy 3 years to my amazing boy, Jack Jack!!! You will move mountains, my man. FAIR WARNING: some of these are quite literally birth photos, but no body parts exposed. ❤

My Plan B Perspective

Recently I had an experience that I don’t necessarily want to share but feel like it may offer some perspective during this difficult time for women in our nation. As most of you know, Jack Jack has a genetic disorder called Pyridoxine Dependent Epilepsy (PDE). It is autosomal recessive, meaning that there are two copies of the mutated ALDH7A1 gene (one from me and one from his father) that were passed on to Jack unknowingly and we have a 25% of having a child with PDE with each pregnancy. While those numbers are not detrimental by any means, they are heavy for me. Jack is such an incredible gift in my life, but the reality of his inherited metabolic disorder is brutal and as anyone in the medically complex community will tell you, NOTHING is a given. Why am I telling you all of this? Because I want to share an experience, but I do not want to turn my platform for advocacy into a nasty debate or something negative. Please keep an open mind and heart as you read.

 

I don’t want to crawl into anymore hospital cribs not knowing how many opportunities I will have to be near my sick and seizing newborn. I don’t ever want to feel weird rhythmic movement in my womb again, too ignorant to know what that feeling was before Jack. Once Jack’s disorder was discovered and discussed, so many weird things made more sense all the sudden, like those movements for example (see below).

From NORD: “Patients with the classic neonatal PDE experience seizures soon after           birth. In retrospect, many mothers describe rhythmic movements in the uterus                   (womb) that may start in the late second trimester and which likely represent fetal             seizures.”

Needless to say, Jack’s birth was traumatic for me and my entire family. We love him more than anything in the world and wouldn’t change a thing about Jack Jack, but his care is catastrophically expensive (I won’t get into insurance nonsense b/c that’s a whole other post itself). Additionally, no two patients are the same and while Jack now has a good quality of life, health is not guaranteed if we decided to have another child. PDE is very serious and must be treated as soon as possible; many children do survive a full pregnancy. Okay, so now you’re likely starting to figure out where this is going, but I promise that I won’t get too political.

 

Recently I was put on two different medications for my face (an antibiotic and testosterone blocker) that mess with birth control and make it ineffective. No big deal, my husband and I were very careful…until one night when we weren’t so confident that we had been as careful as we should. I immediately stated crying, balling actuallly, because I can’t even have easy sex with my husband without these huge heavy clouds looming overhead. Sexy, right? Well I called my OBGYN to see what the best option would be and she recommended just taking Pan B since I was 99.9% sure that I was ovulating and didn’t want to take any unnecessary chances. You can get it at any pharmacy she said. Already ashamed about the errand, I went to CVS in hopes of a quick grab and go and the lady behind the counter made me feel like the dirtiest thing she had ever seen when I asked her for it. I won’t even go into details b/c I was so annoyed that I left and went across the street to my usual pharmacy. I had initially thought not to use my usual conservative small-town pharmacy because I just didn’t want to deal with any feedback about my purchase. Sometimes people surprise you! I cannot sing the praises of my pharmacy, and the tech who is ALWAYS kind to me, enough. I was so happy to see Hope (perfect name such a wonderful lady) and she could tell I was a little uncomfortable asking for Plan B, but she also knows allllll about Jack because she used to have special order large quantities of liquid phenobarbital for me. She quickly and quietly grabbed what I needed, put it in a bag, and rang me up before the 3 other customers even knew what happened. What a beautiful soul! CHOOSE TO BE KIND because you have no idea what someone is going through.

 

While I feel confident that I could take care of another child with PDE, I am not confident this is realistic for our family. There are many hurdles we face each day to make sure that PDE doesn’t control our lives. I imagine that many families who have children with genetic disorders have extensive discussions with their specialists, although sometimes the answers are delivered in the most inhumane of ways. I asked our genetic counselor what we should do if we wanted to have another child and she recommended IVF with PGD, which is not 100% guarantee either and is incredibly cost prohibitive. So I asked my OBGYN what she would recommend if we wanted to have another child and she said we should just get pregnant, do genetic testing as early as possible, and terminate if the baby has PDE. My options are limited and bleak. Additionally, lawmakers in my state are pushing to make the latter option illegal…making this option seem criminal and wrong, which I don’t agree with at all. If I got pregnant and the baby had PDE, I don’t know what I would choose, but I would like the respect and security to know that it is MY DECISION.

 

My heart and mind are so open and I even dream of adopting a child with different needs now that I am more confident caring for kiddos with complex needs. But, we are still in the midst of barely covering all of Jack’s expenses. Jack has been doing 6 therapies per week for two years now and while insurance covers some of this, we pick up the majority. Early intervention is paramount for kiddos with PDE so this is an essential part of Jack’s life that we don’t mind sacrificing for, but again it is a huge financial (among other things) commitment. I also dream of helping kids like Jack and making sure families don’t suffer with misdiagnoses, feeling powerless, etc. like we did. I have many goals to accomplish with Newborn Screening and Rare Disease Advocacy, so I know that this was not the right time to even think about another child. I am so grateful that Plan B was an option for me and I want you to know that it’s not shameful to use it. This is also just ONE reason a woman may need to explore her options, but there are so many other stories and so many other perspectives so I urge everyone to keep an open mind! I stand with you and support you no matter what decisions you make about your body!

Please feel free to message me if you have any questions about my experience with it. I will post some photos of it below as well in case any one has ever wondered what it does and doesn’t do.

This is sweet baby Jack at 5 days old recovering from SE (status epilepticus) and we had no idea what we were in for!

This is what Jack’s seizures looked to begin with…just blank staring off. This was such a scary time when it should have been joyful!

Believe Mothers!

I will never forget the many times I was comforted by someone when I just needed them to believe me regarding my concerns about Jack. It’s time to start seeing mothers as strong women, not just sensitive women. As soon as a woman becomes a mother, it seems she will no longer be taken seriously regarding her child. She will be considered emotional and therefore not to be trusted. In my experience, especially with Jack, people seem to try and “fix” mothers who are showing concern for their children instead of actually listening and believing them. The stigma of the overly emotional and therefore untrustworthy mother has been such a difficult one to break apart on my journey with Jack. The only thing that broke this stigma was me being right about Jack so many times that doctors had to start trusting me. The heightened emotions and overt awareness of mothers make us even more observant and reliable. 

Yet, mothers carry around a stigma of implied emotional imbalance. This way of thinking is incredibly damaging and truthfully dangerous because it leads everyone, especially doctors, to dismiss a mother’s legitimate concerns.  I can speak from my own raw experience on this topic because I watched my newborn son have seizures for almost 24-hours and I couldn’t get anyone to take me seriously. Thus, I doubted myself and didn’t seek the help he needed until it was too late and a brain injury occurred, leaving us with a lifetime of “what if”. What if ANYONE had chosen to listen to me, to believe me.

My son, Jack, was born full term via my second vaginal delivery. We were discharged on time and excited to join Jack’s big sister at home. However, after just one day at home, I noticed that Jack was having some strange facial expressions, eye movements, and twitching in his extremities. It became more concerning when he started crying, and I mean screaming and crying like he was hurting, and then stopped eating. The crying episode lasted roughly 15 hours (no joke!), but when I raised concerns with Jack’s pediatrician about feeling like something just wasn’t right, I was dismissed and told that he was just colicky or experiencing reflux.

We went in to ped’s office and I will never forget how the nurse, my family’s nurse, took Jack out of my arms and said, “what’s wrong with you? Don’t you remember how to hold and soothe a baby?” I know she was joking and she was pretty to quick to hand the screaming/twitching Jack back to me, but that preyed on my worst insecurities: that I was making a big deal out of nothing and that I was the problem. It was not just Jack’s pediatrician who dismissed my concerns and tried to give me a hug instead. My own mother tried to soothe my fears instead of encouraging action when it seemed something wasn’t right with Jack. I took Jack to my mom and she insisted that he just needed a bath. She kept trying to soothe me and I kept feeling like I was insane because I saw that something serious was going on with son. I was so scared, but at that point, my son’s pediatrician, my mom, and my husband had all dismissed my concerns. If only someone would have chosen to believe me.  

Just as I feared, my son has been experiencing life-threatening seizure activity due to a rare genetic disorder that was discovered much later. I waited to long to seek help at a more acute level and he ended up in status epilepticus, requiring critical and life-saving care from a pediatric life-flight team and PICU team.  (Status epilepticus is a medical emergency associated with significant morbidity and mortality. SE is defined as a continuous seizure lasting more than 30 min, or two or more seizures without full recovery of consciousness between any of them.) My son’s disorder wasn’t caught in time to prevent brain damage, but I will always wonder “what if” I had just believed in myself more.

While so much of our early experiences with Jack’s rare disease are absolutely horrific, I am so grateful that his condition was caught through genetic testing and he has a really great quality of life now. However, we almost lost him. There were many in opportunities during Jack’s newborn stage for his rare disease to be caught, yet it was missed time and time again. Jack’s brain was beginning to atrophy, seizures were growing worse, and yet I would still be begging my loved ones and my son’s doctor to believe me I said something wasn’t right with my son. The people around me weren’t even looking at the baby in my arms, but instead trying to comfort and soothe me because they assumed I was just being oversensitive. While I was often appalled by the responses I was receiving, they still allowed doubt to creep in and take root enough to prevent me from taking immediate action to help my son in many instances. These are people that I love and trust, people who love and respect me, but the oversensitive mother is such a well-established stigma that even my loved ones couldn’t see past it at times. I know there are so many moms who can relate and who have been silenced, dismissed, and even shamed when they attempted to advocate for their child. This is why we must believe mothers!!

My own mom will say to this day that she wishes she would have never wasted the time trying to soothe me and convince me that Jack was okay because he truly was not and even she could tell something was wrong at the time. She will admit to not wanting to upset me and that’s why she tried to quell all my worst fears. I think many people would have done the same. Not wanting to jump on the oversensitive bandwagon, my mom tried to fix the situation the way she had been taught. I say we replace soothing new mothers to advocating for them and beside them. How do you do this? You just have to listen to them and believe them. This is post is the beginning of my Newborn Screening Saves Lives series. What if more doctors encouraged mothers to be an active part of newborn screening? That would have made all the difference for my family. One heel prick and a few minutes examining a newborn isn’t adequate for newborn screening. Report what you see, take videos, and never EVER let anyone make you feel ashamed for advocating for you child. If you feel like something is wrong with your newborn and you’re not being taken seriously, take your kiddo to the nearest children’s hospital ER and have no shame!

Newborn Screening legislation is something that I am so excited to share about/advocate for–please contact me if you have any questions and stay tuned for more to come! 

Believe Mothers.PNG–>This photo was taken after Jack was (mis)diagnosed with Mitochondrial Disease and we were told he wouldn’t live much longer. He was discharged on palliative care and my dear friend did a little family photo shoot for us. I though it would be the only one we would ever have. NEWBORN SCREENING SHOULD CHANGE AND SAVE LIVES. This should have never happened and I work for the rest of my life to prevent such heartache and confusion from happening to another family!

 

 

 

“We’re in the Same Boat Now”

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This quote can mean so much to so many, but as parents of complex kiddos, I feel like we have a powerful perspective on it. Our journeys have been so different, but our end goal the same. Today was a day that I tried to stay afloat amidst the current of this chaotic life. Coincidentally, it is also Martin Luther King Jr. Day so plenty of grounding perspective to ponder. I decided that I want to make sure that all my friends know just how “in the same boat” I truly feel we are. I have not been able to connect with anyone on the ground (that’s what we’ll call irl for now because I prefer metaphors to acronyms) like I have with many other moms on Instagram. I know this is my broken record verse, but I was so incredibly alone and isolated during the beginning and most life-altering part of our journey with Jack. I want to make sure no other parent feels that way, especially if they are struggling to find their voice still. Our community of special needs/medically complex parents & kiddos will change the world.  No two stories are alike and we know this all too well as parents who are trying EVERYTHING to help our kiddos thrive in a world that wasn’t designed for them. There’s something so incredibly special about being in the same boat; we are never alone, we share freely, love fiercely, and advocate ferociously.

I always want to make sure that I am being as transparent as possible with our journey. There’s an interesting and delicate balance when it comes to social media and sharing. I don’t want to wear our friends out with perceived whining & putting only the struggles on display; on the other hand, I also don’t want to pretend like our life is easy peasy. The other mama bears I follow are more than capable and I learn amazing things from the Instagram community of warrior moms every day. So again, there’s a delicate balance when sharing what works for us. This is just our journey and I don’t know why some things didn’t work well for Jack, while he made huge gains with others. I want to be helpful, not annoying. All that being said, I am going to take this opportunity to share something super special that DID work for us and I loved it so much that I am sending Jack’s to a very special friend in Brazil that I made through instagram. This mom has a little girl with PDE, just like Jack!!! (what?! this is still so rare, though neurologists believe it’s often under-diagnosed and misdiagnosed. Just take Jack’s case for example) My beautiful new friend is also an amazing warrior mama who wants to know all the ways she can help her daughter. She had to fight for her daughter to get on the triple therapy method of treatment, after learning about it through Jack’s journey. Triple Therapy for PDE is a lysine and protein restricted diet combined with clinical doses of pyridoxine and arginine to combat the brain changes this disorder causes. Triple Therapy for PDE wasn’t published about until 2015 by a consortium of doctors on a mission to help treat patients with PDE more effectively. We were so lucky in so many ways. We were lucky that our firstborn, Rowan, didn’t have the genetic mutation causing PDE because she was born 3 years prior to the research being published. We were lucky that our neurology team was aware of triple therapy treatment, as it was not as well known. There are still so many doctors who are not aware of this, but Jack’s doctors and myself are on a mission to spread awareness! Please take a second to read this excerpt from Dr. Curtis Coughlin and the consortium about the method of treatment that has saved my son’s life.⇓

“Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by response to pharmacologicdoses of pyridoxine. PDE is caused by deficiency of α-aminoadipic semialdehyde dehydrogenase resulting inimpaired lysine degradation and subsequent accumulation of α-aminoadipic semialdehyde. Despite adequate seizure control with pyridoxine monotherapy, many individuals with PDE have significant developmental delay and intellectual disability. We describe a new combined therapeutic approach to reduce putative toxic metabolites from impaired lysine metabolism. This approach utilizes pyridoxine, a lysine-restricted diet to limit the substrate that leads to neurotoxic metabolite accumulation and L-arginine to compete for brain lysine influx and livermitochondrial import. We report the developmental and biochemical outcome of six subjects who were treated with this triple therapy. Triple therapy reduced CSF, plasma, and urine biomarkers associated with neurotoxicity in PDE. The addition of arginine supplementation to children already treated with dietary lysine restriction and pyridoxine further reduced toxic metabolites, and in some subjects appeared to improve neurodevelopmental outcome. Dietary lysine restriction was associated with improved seizure control in one subject, and the addition of arginine supplementation increased the objective motor outcome scale in two twin siblings, illustrating the contribution of each component of this treatment combination. Optimal results were noted in the individual treated with triple therapy early in the course of the disease. Residual disease symptoms could be related to early injury suggested by initial MR imaging prior to initiation of treatment or from severe epilepsy prior to diagnosis. This observational study reports the use of triple therapy, which combines three effective components in this rare condition, and suggests that early diagnosis and treatment with this new triple therapy may ameliorate the cognitive impairment in PDE.”                                  Find our more online at PDE ONLINE.org

Now you know why this treatment is so important to Jack Jack and our family! Thus, when this Brazilian mama reached out to me about the diet and other PDE-related questions, I was eager to help. Initially, the pediatrician in Brazil was not willing to give the treatment a try, saying that restricting protein at the child’s age would be detrimental to development. Ummmmm, please read anything about PDE and know that NOT restricting protein will be detrimental to the brain function of the child. Anyway, I emailed these amazing doctors from the consortium and before we knew it, they were helping! This is just one success for this amazing little girl and her family. There’s only one or two labs (I think one, but I may be wrong) that can test the biomarkers for PDE–AASA and pipecolic acid, and they are in the US. Jack has his blood taken every 3-4 months for Emory Genetics to monitor the levels. I’ll just say this, it’s a freaking process for us! However, it is something that I am so incredibly grateful for because so many others do not have access to this lab, like my Brazilian friend for example. We’ve also been able to share about the emotional struggles, as well some tips and tricks for therapies. As we were sharing one day, I thought maybe we could we share something physical as well. This is where our super special item comes in. We mailed our Brazilian friends Jack’s Pewi Y-bike, the first device that ever gave him freedom. My heart is so happy to share this special “toy” with my friend because man it helped Jack so much. I have shared it with a few other moms, but wanted to take a moment to share it with the group, so to speak.

At 15 months old, Jack couldn’t stand independently or pull himself well. We were working so hard, physical therapy twice a week, SMOs, etc. Jack was getting so big and all the traditional baby walkers and buggies no longer held him up so he never even got a chance to even use those. We had them, but he outgrew them before he could stand steady enough with them. I did a mad google search for stronger walkers or anything that would help Jack learn to stand. He didn’t even know how much he was missing because standing was hard and he didn’t want to try it. I knew I had to find a way to motivate Jack to get on his feet and then reassure him that he was safe and steady. Then I came across this smiling contraption that looked exactly like what I might need. It turned out that this Pewi Y-bike, I couldn’t even find the brand on Instagram back when he was using it, was everything that Jack needed and more! (side note: bought it on Amazon) You can see from the photos that Jack used his bike for everything once he got used to it. He was apprehensive as hell at first. But, the bike moves so smoothly that after getting over the shock of sitting on it, he realized that he was steady. He adjusted to it quickly and fell in love soon after. It was the only way he had ever known to stand, move independently, and finally get on his feet. More and more, Jack would “walk” instead of scoot, but the option to sit was always there for him. Jack stood and hugged his sister for the first time using the bike. We took it everywhere and it was really sad when Jack outgrew it, but that’s also when he got his first Kaye walker!

Check out the photos of Jack Jack becoming independent with his bike below. I can’t wait to (hopefully) share photos of our Brazilian friend loving it as much as Jack did. (Don’t fail me, international shipping!!) Please ask me any questions at any time; I am an open book. Most importantly,  I’m in the boat with you so let’s make some fucking waves! (sorry MLK, it’s for emphasis and also because someone may think this isn’t actually me if I don’t let at least one F-bomb out) ❤ I guess this is basically just a PSA in honor of MLK to say that I’M HERE!!! Don’t feel isolated and don’t isolate yourself. Maybe that’s where I went wrong too, but at least I found the supportive community I did on social media. My life is still so different from those in my community, from the life I had before, from a “normal” life so I will take my tribe where I truly feel connected. ❤

The House That Jack Built

“This is the house that Jack built, y’all. Remember this house…This was the room that was filled with love. It was a love that I was proud of.” -Aretha Franklin

I was a happy, social, outgoing pregnant lady when my dear friend would blast the above Aretha song EVERY time we got in the car after she found out that I was going to name my son “Jack”. Most of the time I wanted to vomit because she would crank the song up and she drives like a bat out of hell who doesn’t seem to quite understand the art of braking. This song has stuck with me more than I ever could have imagined in early 2016 when I used to roll my eyes as it blared in Janie’s car as she serenaded me loudly with no regard to basic traffic laws. I took this carefree existence for granted as I never expected that I would have anything but a healthy baby boy. I could kick the silly, selfish, ignorant girl that I was before July 28th, 2016.

So much has happened between the day my son was born (July 23rd, 2016) and now. I have pined to write about this for so long, but I have been unable to get the words out for so many reasons. There is a lot to tell so I will break it up in several posts so I don’t lose you before we even get started.

My name is Leah Trotter and I live in Athens, GA with my husband, 4-year-old daughter, 5-month-old son, and two dogs. Prior to my son’s birth, I worked at Athens Area Humane Society and was incredibly happy and fulfilled…or so I thought. I am passionate about animal rescue and could have never imagined that I would leave my job as the Outreach and Communications Specialist for AAHS. This is story of how my world got turned upside down.

Baby Jack, as we like to call him, was born on July 23, 2016 after a VERY normal labor and delivery. My water broke on July 22 after a night swim with my 3-year-old daughter, Rowan. My husband drove me to the hospital and  I was so excited because I so badly wanted to go into labor naturally this time. I was induced with my daughter because she had refused to leave her cozy home in my uterus. Everything was happening just like you see on TV…exciting/unexpected water break + crazy/intense/painful/funny car ride to the hospital. Cliff, my husband, pulled up to the ER doors (after asking me if he could park in the deck and walk me up…I may have bit his head off for the suggestion because my contractions were getting stronger and walking was NOT an option). Two nurses were walking in from grabbing their dinner across the street and saw that I was obviously in labor. Lucky me, they were L & D nurses and put me in a wheelchair and brought me up to the floor to get settled. Seriously, what luck!

I was only in labor for about 12 hours and only pushed for 45 minutes before sweet Jack made his appearance into the world. I got an epidural and it worked beautifully. I honestly had the most lovely labor experience, other than the painful pushing part of course. However, 45 minutes of pushing is MUCH better than the 3 hours I pushed with my daughter. I was on top of the world when Jack was born. He was perfect at 8 pounds and 3 ounces, 22 inches long. He nursed perfectly right off the bat. We had beautiful newborn photos taken in the hospital by a friend who did a fabulous job. My daughter was in NICU when she was born and did not get newborn photos, which was something I had regretted terribly. We were getting those photos no matter what this time. Rowan even cooperated (with only a small amount of bribery) and got photos taken with her new baby brother. In the months leading up to Jack’s birth, Rowan had insisted that I would have a baby girl and called the baby Lucy. However, after he was born she was so good and even seemed happy. Seriously, I was over the moon and felt like the luckiest lady alive!

I had Jack on a Saturday  morning and we went home on Monday afternoon. Everything was perfect. He ate well, he slept well, he was an easy/happy baby. On Tuesday, the day after we came home from the hospital, I told my mom and husband (as I cried like a hormonal idiot) that I was so happy and could not believe I was so lucky! I felt like I had the most incredible life and family. I had been wary about adding another baby and after Jack was born it was so clear that having a second child was the right move.

I was so blind to the true hardships in life and without warning, my life changed in an instant. Did I even blink? Had I been dreaming all along? What happened?

Tuesday evening, late, Jack started crying. His crying intensified and he became inconsolable. I was so calm and patient and didn’t feel the least bit worried. I rocked him and loved him and knew he would feel better soon. We had our routine follow-up with his pediatrician on Wednesday. Jack had still not stopped crying by that time. No exaggeration, Jack cried for 15 hours straight. He cried the entire time at the pediatrician’s office and I expressed my concern. Probably gas or reflux or colic. We went home and the crying did not stop until about 8pm that evening. Jack had still been eating some throughout all the crying, but then he stopped nursing. I pumped and tried the bottle. Gradually throughout the night he basically just stopped eating, but he eventually stopped crying as well. As the crying stopped, something new started. I cannot explain it, although I have told the story to more doctors than I can count. I have retold this story so many times that it is painful to do again, but I know I need to get it out one final time.

Jack did not look quite right after the crying stopped. Keep in mind, he was barely 5 days old at this time so it was hard to say if he was just brand new or if he was acting strange. Babies are strange; they have strange movements. But something was neurologically not right and I knew it. He did not look like he was seizing (not in the sense that I thought a seizure looked like at that time at least), but something told me he was having little seizures. He was slightly shaking, jittery as they called it in the hospital, and then he would startle and throw his left arm out and turn his head to the left simultaneously. There is no way to explain this act, you just had to see it. I tried everything to see if I was imaging it or if something wasn’t right. My mom helped me give him a little sponge bath. He started seeming rigid. I was done. I called the pediatrician and we went back in on Wednesday morning. Jack was 5 days old.

Immediately, our pediatrician sent us to the local hospital. She wanted Jack to be admitted and see the neurologist. There is only one pediatric neurologist in our town. WTF?! We finally got to the peds floor after 30 minutes of registration, which I now cannot believe even happened…for fuck’s sake my newborn was seizing in my arms and no one felt a sense of urgency??! Yes, his shaking/startling was still going on this entire time. The first nurse who saw Jack immediately knew something was wrong and started getting other nurses in the room. She was a freaking rock star and I love her for the care she provided my son. It was obvious that something serious was wrong with Jack. Before I knew it there were 6 or 7 nurses in the room, all crowded around Jack trying to help him and my husband and I faded into the background as they worked. I have never been so scared in my life. It was soon decided that Jack needed to be sent to Children’s Healthcare of Atlanta, the best pediatric specialists in our state. I was terrified because this confirmed that something bad was happening to our newborn son.

Everyone in the hospital room kept calling it “seizure activity”. What the hell does that mean? Is he or is he not having a seizure?! I was borderline hysterical and we were told that only person could ride in the ambulance so my mom came and picked me up so we could meet my husband and son at CHOA. I’m sure it seems weird that I wasn’t the one to stay with my son, but I couldn’t even function. I would have been no good to anyone. My husband was much more composed, though obviously terrified, and he agreed it was best for him to stay and ride in the ambulance. What happened next only added to the nightmare we were already living.

Jack could not be stabilized, meaning they could not stop the seizure activity which was only getting worse. The CHOA doctors wanted him on the helicopter instead. It took 4 long hours to get Jack stable, intubated, and on the helicopter to Atlanta. My poor husband was left in the dust. There was no room on the helicopter for him. Luckily, the ambulance from CHOA had also arrived at the hospital and my husband rode to Atlanta in it. I had taken the car keys so he was going to be stranded otherwise. Meanwhile, my mom, my daughter, my in-laws, and myself waited in the PICU waiting room for Jack and Cliff to arrive. I would have sworn we waited for 12 hours, but it was more like 5 or 6. Yes, Jack was going to be taken straight to the Pediatric Intensive Care Unit because he had been given a paralytic, intubated, and pumped full of phenobarbital and ativan.

I don’t have a picture of the first time we saw Jack in the PICU because it would not have been appropriate, but this photo shows Jack on his second day in PICU. He was extubated and breathing on his own, but also under the bilirubin lights and hooked up to his first of many EEGs. Look at him. He is a healthy weight and does not look like a sick baby. Honestly, I have grown tired and weary of having people telling me that Jack doesn’t “look sick”… welcome to epilepsy, people!

There are many more chapters to Jack’s story, but I will end the first one here because the story is an emotional roller coaster and I can only take so many ups and downs in one sitting (as I am sure you will agree because reading this, just like living it, will make you dizzy and nauseous).

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“You’re in a Cult. Call Your Dad!”

“You’re in a Cult. Call Your Dad!”

Look. Listen. Look and listen…if you’re a murderino surviving solely on podcasts like “My Favorite Murder” then you already know where this comes from. If not, I apologize if my true crime comedy references or morbid sense of humor offends you. Actually, I don’t. As Karen says at every live show, “if you’re offended by this then we welcome you to go ahead and get the fuck out.” I’m going to take this moment to second that because I’m done trying to please everyone. From failed plans to extreme disappointment to bad bloodwork to seizures to illness to the Disney trip from hell…every time I thought I had things under control, something else struck! I have been so checked out from everything because I have been barely able to keep my head above water, but now I’m dipping my toes in again after a while on the shore.  I want to genuinely thank EVERY SINGLE PERSON who has reached out to me – there’s no way to show how much this meant to me, even though you likely did not hear back from me. Sincerely, thank you for reaching out and you all know who you are! ❤

 

I’ve been confused, grieving, and learning to live in an upside-down world for the past 3.5 years. But mostly, I have wanted to help other families after the horror we lived through trying to get an accurate diagnosis for Jack. So I tried blocking out all the trauma by keeping busy. I know how lucky I am in the world of the medically complex because Jack has a treatment that works well and allows him a good quality of life. I try to show the positive sides of Jack’s life while also being transparent about our struggles. However, I don’t think I’ve done a good enough job illustrating the struggles, especially the emotional and physical toll that Jack’s care takes on me (and his dad) daily. I know everyone means so well, but I can’t tell you the amount of times that I have received a message from a mom on social who tells me, “we were hoping for a PDE diagnosis after we found your page instead of ___”. I get that sentiment, believe me. However, my life has been indelibly changed since epilepsy and rare disorders entered and it is far from simple and quite often even far from enjoyable. I’m grateful for every minute, though.

 

My drive to help other families seemed to be leading me to advocacy work, and even a move to DC. Since Jack’s birth, everything seems so dire and I’m often jumping into things with both feet and not much forethought if I think it will help other kiddos and their families. Unfortunately, I was doing this at the detriment of own complex kiddo…and he really struggled during my travel in the fall. I am so ashamed that I didn’t see it sooner, but my poor buddy really needed more from me than I was giving. This led to tough decisions, but I’m so thrilled that since I haven’t been traveling and have been home for Jack, he is doing so much better! He really struggles when he doesn’t have a routine and does not like change of any kind (or Disney World, but that’s a whole different post).

 

Anyway, in my need for a distraction from metabolic disorders & rare disease bullshit, I found Karen Kilgariff & Georgia Hardstark…and their podcast, My Favorite Murder (and of course their book, Stay Sexy & Don’t Get Murdered). I’m obsessed with this true crime duo and everything they do. I’m not in the least surprised that when I listened to episode 176 about the book that I burst into tears as Karen read this passage about living with her mother’s devastating diagnosis of Alzheimer’s. I immediately felt that Karen had released this indescribable feeling inside me that I had been holding in and unable to pin down – a feeling of living in a slowly moving desperate situation and never knowing how hard you should fight this time. Maybe I’m being lazy by not using my own words but haven’t had any of my own lately and this is so powerful that I want to share it with you all!

It’s hard to follow that passage so I’m just going to say thanks again for all the support and I’m sorry I haven’t been able to find the words I needed to communicate in the past few months. I got in too deep by wanting to drive change for children (and their families) living with devastating and complex diagnoses and it was almost detrimental to my own family. I was so naive in thinking that everyone had the same drive to help people as I did. Unfortunately, I only found My Favorite Murder about 6 months ago so I didn’t yet know the signs that indicate you might be in a cult (joking – this is all light hearted). But, now I think that maybe too much of anything, even a good thing, is basically cult-like activity. I’m so happy to be “out” and trying to find peace focusing on my family and moving forward. Thanks for being the best always, friends!! If you don’t know Jack’s story or if you want to hear details straight from the horse’s mouth (ME) then check out the latest episode of the Mimosas with Moms Podcast (released today, Jan 20th, 2020)! It’s Birth Defects Prevention Month and I’m so honored that Abbey asked me to be on her awesome pod!

I can’t end without an SSDGM! 

Why I Won’t Stop Talking About Epilepsy…

It’s that time again, friends – I don’t mean the Holidays, but something just as special and important – Epilepsy Awareness Month! While Jack does not have complete seizure control, he is able to go very long periods of time without having an episode thanks to his special metabolic diet that is very similar to the one that individuals with PKU and GA-1 are required to follow. These diets are low-protein and pretty grueling for little kiddos (and their parents). While seizure control is not a daily battle we face, epilepsy still runs pretty much every aspect of our lives. I don’t say this in a scary way because I am beyond grateful to have a treatment for Jack’s rare disorder, known as Pyridoxine Dependent Epilepsy. I say it because it is true. I have to calculate every inch of Jack’s day because he can only have 19 grams of protein per day, in addition to his special Lysine & Tryptophan-free formula that he receives via Gtube. Epilepsy means daily frustration of getting a low-protein diet perfect so that my son’s brain can function appropriately. Unfortunately, the etiology of his epilepsy was not discovered until damage had been done to Jack’s brain. It was, however, discovered in time to save his life. This is one of the reasons I will always talk about epilepsy, and especially during the month of November. A diagnosis and a hopefully a treatment, a community and connections that pull you out of dark places, and persistent/fierce advocacy: These are the reasons why I will never stop talking about epilepsy.

I will never stop talking about epilepsy because my words could help others find a diagnosis, treatment, therapy, or something (freaking anything) that helps improve quality of life. Prior to Jack’s birth, I knew nothing about epilepsy. Additionally and shamefully, I would have likely dipped out of any conversation about epilepsy because it’s not a pretty topic. I have seen people shy away from topics so many times because they are messy and ugly – I am absolutely guilty of this so now I talk about epilepsy any chance I get. So many people, 1 in 26, live with epilepsy so destigmatizing [by talking about] this topic is one of the best ways to spread awareness and combat fear. One of the worst parts of telling family, friends, strangers or a new acquaintance that your child has epilepsy is getting the sympathy and “I’m sorry” looks. (Me internally: “Don’t be sorry, be aware!”) Be an advocate for those living with epilepsy by being open to hearing and having conversations about seizures and then using your knowledge to continue spreading awareness and advocating wherever you can. I recently attended an event where the mother of a child with a rare disease (that involves epilepsy) was speaking about how she wanted a gene therapy to help her child be “normal” and so her child could live a “normal” life. This did not sit well with me because that’s not what I want for Jack. Of course, I would love a gene therapy for his disorder; not to make him “normal,” but to give him the best possible quality of life. This leads right into the next reason I will always talk about epilepsy: community and connection!

If you’re reading this then you likely know me online or in real life (maybe both!), but if not the biggest thing for each of you to know if that you can ALWAYS send families to me – struggling with epilepsy, rare disease, inborn errors of metabolism, etc.- I will always share my contacts and try to help any person or family struggling with an epilepsy battle or beyond. I will show up and will do anything I can to help. Ask around if you need references ;). The online support for epilepsy has grown so much over the past 3.5-years since Jack was born and it’s so nice to see the conversations, support, and awareness we all spread daily just by sharing our stories. If you are new to the unwanted world of epilepsy, then let me welcome you wholeheartedly because we are THE MOST supportive and fierce family who will stand by your side. If you don’t where to start, just begin by sharing your story and following some other families in similar situations…just slowly start to connect. I wasn’t ready to connect for a long time and it’s also okay to sit back and watch until you’re ready to connect and share. An important note and another reason I will always share Jack’s epilepsy journey is for advocacy.

One of the biggest battles those affected by epilepsy face is that of getting the correct diagnosis causing their epilepsy AND obtaining the proper drugs that treat their specific epilepsy. While there are very common and easily obtained anti-epilepsy drugs, there are also medications like CBD oil (or even ACTH for infantile spasms can be difficult to obtain in many countries) that many patients and families cannot obtain. Do our Policymakers know about epilepsy? How can they make informed decisions on these drugs or policies that affect those living with epilepsy without speaking to patients? Policymakers are not going to track us down and ask for our opinions so it’s up to us to advocate for policies that will benefit those facing serious battles like epilepsy and rare disease. I will always do this – starting with talking about epilepsy, sharing Jack’s journey, and continuing to help anyone who reaches out to me.

I have been shamed for speaking about epilepsy, sharing videos, and not keeping my battles more under wraps. If these things offend you, then please don’t come here because I will always share openly and honestly. I encourage you to share your story in YOUR style, whatever this means to you. Share photos of your child or don’t, share all the grueling details or hold them back, share and hold on to whatever you want because there us one way & no right way to do this, my friends! ❤

Reach out anytime you need anything – @metabolic_mama on Instagram or DM me for the digits! 💜💜💜

XOXO,

Leah

Just Jack: An Important Medical Update in Time for World Rare Disease Day!

WRDD19Jack is so many things. He’s capable, he cute as a button, he’s smart and he’s stubborn, he’s affectionate, he’s friendly, and he means so much to many people. But, before I even got to the chance to know and love my son, I was given a limit on his life and a limit on my time with him. With a life-limiting + incorrect diagnosis and poor prognosis, my 11-week-old was in a fight for his life. You would never believe it looking at my big healthy boy today, but he almost wasn’t here. He has a rare disease that was almost missed. Jack saw over 20 different doctors–specialties like Neurology, Human Genetics, Infectious Disease, ect.–in one of the US’ leading Children’s hospitals. Jack’s rare disorder, known as Pyridoxine Dependent Epilepsy(PDE), was overlooked for 6 solid months while he struggled and suffered with intractable seizures and a subsequent brain injury. This slow struggle towards a correct diagnosis is not uncommon in the rare disease community, and in fact, Jack was diagnosed quickly for having a rare disease. According to Global Genes (my go-to for all things rare and genetics related), the average time it takes for a rare disease patient to get a correct diagnosis is 4.8 years. My son could not have survived this long without the correct diagnosis + treatment and that is why I tell as many people as will listen. Awareness is everything in the rare disease community, especially when there is a treatment that is absolutely life saving like Triple Therapy for PDE.

I was thrilled when I was told we would be swapping out (slowly of course) 5 different AEDs (Phenobarb, Keppra, Topamax, Fospheny, AND the regular use of diazepam) for Pyridoxine (B6) and a new diet. For my non-neuro friends, I used the “pet words” for some of the AEDs (Anti-Epilepsy Drugs) because it’s one way we exert a little control over the meds. (ha!) WHAT? Is this even real? We went from absolute devastation, being told that our infant son had mitochondrial disease and his brain would “continue to atrophy until he passed away” to he has an Inborn Error of Metabolism and needs to see Genetics and a Metabolic Nutritionist ASAP. So he is going to live? YES! I learned the hardest way possible that doctors are not always right; they do not get to write the story of your child’s life and the fight is always worth it! I know many readers already know the entire story, but the Mito diagnosis was Jack’s second misdiagnosis. When he was just 10 days old and in the PICU after being life-flighted, we were told that he had a Hypoxic Ischemic Encephalopothy (HIE). There were pieces of Jack that fit with each diagnosis at the time so the neuro team did what they could with the information available at the time. However, the information could and should be better for inborn errors in metabolism (like PDE) that can be tested and added to the newborn screening process. As the mother of a kiddo with a rare disease, I can tell you caregivers fight, scrap, and claw for every inch of information that will help our children. And the battle is always worth it.

All of this being said, I have learned SO MUCH about PDE and want to give an update on Jack Jack. This has taken me so long for a few reasons: I want to thoughtfully explain PDE in a way that does the patient’s justice AND this update involves a subject that makes me most uncomfortable–intellectual disability. We have been prepared for many things with Jack; from the beginning we were prepared for a severely brain-injured child with a completely unpredictable future, next we were prepped (by doctors) for our son to die, then we were told his true diagnosis and prepared for unpredictable delays. Whew! I’m grateful for, not disheartened by, these diagnoses now because they made me fight like hell for my son. Jack is now 2.5-years-old and will be 3 in July. He has carried and still carries many of these diagnoses: PDE, ASD, Apraxia, SPD, GDD, Hypotonia, CP, etc. Last month Jack had two major appointments that really helped me understand, come to terms if you will, with what my son’s diagnosis of PDE truly means (at least for him, each child is so different). Here’s the medical portion: Jack is sometimes (hopefully not all the time) having seizures while he sleeps. His EEG tells his neurologist that is brain is processing at a little bit of a slower pace than typical kiddos while he is awake. These were both things I was unprepared to hear. Jack is currently on 300mg of Pyridoxine, which is a lot considering the main side effect is peripheral neuropathies. Most people need only 2mg of B6 per day just to put that in perspective. Jack is actually doing quite well currently and on an upswing with development so we aren’t interested in adding an AED at this time. My main question that I kept coming back to was, “will Jack have an intellectual disability?” I don’t know why I didn’t really prepare myself for this portion of Jack’s disorder; after all, it is written quite clearly that PDE patients are likely to have a learning disability. The idea of the gap between Jack and his peers widening absolutely crushes my heart, but I don’t have much time to mourn so on we go! Another interesting development in Jack’s diagnoses is that both the child psychologist and neuro-development team that Jack saw do NOT think Jack has ASD. They said that Jack has some very severe delays, most severe being his gross motor skills. They said that Jack struggles to orient himself with other people because it’s all he can do to hold himself up. He does not make good eye contact because his neck and core are so weak. He wants to make eye contact, they say, but it’s just too difficult because he is so big, yet his tone is so low. Sometimes he just looks like all his parts don’t work together quite right, but it’s what make him Jack Jack! Needless to say, these appointments have clarified and sharped so many things for me.

Jack’s incredible neurologist, Dr. Koh of Children’s Healthcare of Atlanta, told me that while many of those above diagnoses apply to Jack clinically, he doesn’t need them in addition because he has the “unifying diagnosis” of Pyridoxine Dependent Epilepsy. PDE, she explained, is a “metabolic encephalopothy”. What the hell does that mean? It means that Jack’s brain works differently at the metabolic level, causing him to develop differently than neuro-typical children. When this “metabolic encephalopthy” was not being properly treated, it caused damaged to Jack’s brain. The damage, or what they like to the “dull spot” on Jack’s MRI explains his ataxia, but PDE explains everything else. PDE is rare so there isn’t much written, not many resources to compare, and not enough kids diagnosed and treated properly to predict what Jack’s future looks like. I know all the rare patient caregivers can relate to that. Interestingly, Jack’s doctors (not just Dr. Koh) say that PDE is really the only diagnosis Jack needs because PDE implies developmental delays, epilepsy, hypotonia, etc. While I have always understood this, I have also spent so much of my time fighting with insurance for early intervention services and keeping ER doctors from killing my son because PDE isn’t an instantly recognizable diagnosis. An insurance representative once said to me, “I don’t understand why your son needs so many therapies, it’s not he has Down Syndrome or something”. I hung up immediately so my anger for my son and then my friends and loved ones with Down Syndrome didn’t vaporize him through the phone. Maybe, hopefully it still did. Dr. Koh basically told me that it’s my job to change this and make people recognize and remember PDE. So remember this: PDE is super similar to PKU and both can kill you if not properly treated.

I am always up to chat more about PDE and provide resources so don’t hesitate to reach out! Happy Rare Disease Day, my incredible friends!! ❤

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Rare isn’t all unicorns and sparkles: World Rare Disease Day 2019

IMG-9315What does World Rare Disease Day mean to you? Have you ever even heard of it? Prior to having Jack, I didn’t even know there was a day dedicated to individuals who face the unknown daily. I say the unknown because that is basically what rare means; it means you will hear a lot of “we just don’t know yet” or “we have to wait and see”. Rare looks a a bit more medical than magical in the real world. But rare is also beautiful, right? That’s what all the cute unicorn tees tell us…in a field of horses be a unicorn or whatever. Of course rare is beautiful in so many ways, but it’s also lonely. What they don’t tell you is that once you have that unicorn or are that unicorn, you will no longer have that field of horses. All of the sudden you are exposed and alone all at once. It’s almost like you don’t really exist anymore because your life is too difficult to fathom. My 2.5-year-old son is my unicorn and he is the most incredible little buddy who also happens to have a rare genetic and metabolic disorder called Pyridoxine Dependent Epilepsy (PDE).

Before Jack I had no idea there were so many genetic disorders, so many rare disorders of all varieties. I try really hard to read and learn a little about each new disorder that I learn about through a social media photo, hashtag, or a meeting at an outreach event, etc. I think that’s one the best things we can do to show respect for the brave humans who fight these disorders daily. That being said, PDE is pretty confusing to most people. I understand pretty well because I have to, but here goes:

“Pyridoxine-dependent epilepsy (PDE) is a rare genetic condition characterized by intractable and recurrent neonatal seizures that are uniquely alleviated by high doses of pyridoxine (vitamin B6). This recessive disease is caused by mutations in ALDH7A1, a gene encoding Antiquitin, an enzyme central to lysine degradation. This results in the pathogenic accumulation of the lysine intermediates Aminoadipate Semialdehyde (AASA) and its cyclic equilibrium form Piperideine-6-carboxylate (P6C) in body fluids; P6C reacts with pyridoxal-5′-phosphate (PLP, the active form of vitamin B6) causing its inactivation and leading to pyridoxine-dependent seizures. While PDE is responsive to pharmacological dosages of pyridoxine, despite lifelong supplementation, neurodevelopment delays are observed in >75% of PDE cases. Thus, adjunct treatment strategies are emerging to both improve seizure control and moderate the delays in cognition. These adjunctive therapies, lysine restriction and arginine supplementation, separately or in combination (with pyridoxine thus termed ‘triple therapy’), have shown promising results and are recommended in all PDE patients.” —> This is the treatment plan Jack is on, but because he wasn’t properly diagnosed until almost 6 months old it’s a very “wait and see” outcome for him and most patients until there is more research.

So let’s talk a little bit more about our unicorns, our rare disease warriors, and what they mean to the world. I recently worked with a media team in the UK to share Jack’s story. They made a beautiful video that had the most amazing supportive comments attached. They also published a written article about Jack. I am always asked what my goals are or plans are going forward with advocacy? The interviewer asked me this question and I answered that my first goal is to help get PDE added to the newborn screening process! Cool, right? (I think so!) But of course there were a few ignorant comments that struck me on this one. Here are two of the comments (one kinder than the other):

1.) I sympathize with the anguish these parents went through, but I’m not sure it’s practical to test every baby for something so rare.”

2.) You want every newborn tested for one of the world’s rarest diseases??

When people ask these sorts of questions or make comments like this, I get so confused. Do they know what the newborn screening process is? It already happens to every child, a little heel stick. Why is it so crazy to also test that blood for PDE bio markers? IT COULD LITERALLY SAVE LIVES! It literally makes me cringe because it seems like people don’t even know what newborn screening is or why it’s done. These are people whose future children I could be advocating for, but they don’t care enough to (at the very least) not make a comment that they don’t even understand. I guarantee if these commenters had a loved one with a rare disorder then they would care about rare, or least empathy, a bit more. Maybe the article didn’t do a good job of explaining why I want PDE added to the newborn screening process, but that was not the purpose of the article. The purpose was to celebrate a very brave little boy and shine a light on a rare disorder to give hope to others.

I did not even know that PDE could be screened for in an infant since my son went almost six months with having a correct diagnosis. During this time, he suffered immensely and even has a brain injury due to late diagnosis. Jack’s geneticist is the one who brought to light the fact that there are PDE bio markers that can be tested in newborns, just as there are bio markers that are tested in Jack every 3 months. In addition, if you take Jack’s case along with much of the research, it is quite to clear to see that many PDE patients go undiagnosed or misdiagnosed. Maybe PDE isn’t even as rare as we think. We just don’t know, which is why awareness and advocacy is important to me. I was even told by Jack’s neurologist that before the gene associated was identified, many of the kiddos with PDE passed away because they were resistant to all typical anti-epilepsy drugs (AEDs) and go into status so easily. Many PDE patients begin having seizures in-utero just as Jack did (only we didn’t know at the time) so by the time they come into the world, they have already had tons of strain on their developing brains. PDE can be most closely related with PKU, the disorder already tested for on the newborn screening because early metabolic treatment is so necessary. PKU is still considered a rare disorder even though the incidence is much higher than PDE. If the brain development and overall outcome of your child depended on as early a diagnosis as possible, then you would care about newborn screening as well.

PDE, along with PKU and many other disorders, is known as an inborn error of metabolism. Diabetes is the most common form of metabolic disorder if that helps at all. Basically people with metabolic disorders are lacking something important needed to help their bodies/brain function properly. These disorders are quite cruel, many are progressive, and even more have no treatment. This is why we should care about rare. We should care about rare not only because we love our beautiful unicorns, but also because the reality of the rare life is a desperate and isolating one. I guess a sad unicorn doesn’t make as cute of a tee, though. Care about rare because it’s all around and because it’s worth making the effort to try to understand, connect, and offer hope to others. Advocacy, awareness, inclusion, and kindness are the best way to beat the comments and ableism that make rare as lonely as it is beautiful.

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SMOs: What’s Good to Know!

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You probably already know what AFOs are, but what about the AFO’s lesser known little brother, the SMO? Let’s give the SMO a little love today because they are so often overlooked. It has been incredibly difficult for me to find any accurate recommendations for shoes or even other kiddos who wear SMOs. So we are going to break that now and put the spotlight on the SMO. SMO is the acronym for Supra-Malleolar Orthosis. This orthotic supports the leg just above the anklebones or malleoli. The SMO is considered the shortest of the Ankle Foot Orthoses or AFO’s. The SMO is prescribed for patients who have soft, flexible, flat feet. Jack jack got his SMOs almost a year ago now. You may or may not have noticed; SMOs are slightly more incognito than AFOs. His physical therapist recommended the SMOs for these issues: Pronation, Hypotonia, Developmental Delay, and Poor coordination and balance. While these are all still struggles for Jack, his SMOs have truly helped him SOAR! img-9636
I didn’t really know what to expect with the SMOs. How would Jack react to them?    What about shoes? He was almost 20 months-old and still not walking or standing independently. I was excited about an option to help him get on his feet. We had our consult, got Jack’s chubby little feet measured, chose a pattern (sports bc he loves to watch hockey with his daddy), and then waited for weeks. When we finally got to pick them up, I had a few shoe options with me because I was so confused. At first glance, the SMOs are intimidating…like how the heck am I going to get that bulky thing in a shoe? I was told to buy shoes one size up to fit with the SMOs and that has worked pretty well for me since then too. I had three different pairs of tennis shoes with us when Jack tried on his SMOs for the first time. The ONLY pair that even remotely worked that first time was the standard grey New Balance shoes my mom had bought just in case. One we got Jack in his SMOs and shoes, he was not the least bit interested in trying to stand (hard eye roll–typical Jack). However, once he was ready to stand, he was so much more steady! I was worried he would hate them because he doesn’t like socks/shoes or anything that touches his feet, but Jack’s PT told me she thought Jack would love the SMOs as soon as he realized he was more steady and could do more with them. She was absolutely correct!

There was no learning curve, the SMOs were easy peasy! However, it did take a few weeks for Jack to work up to wearing them for several hours at a time. We found some really wonderful seamless socks and everything seemed great. I was a little bummed over the summer because there were no sandal options that would also allow for Jack to use his SMOs. I love shoes and I loathed that there weren’t any CUTE or even sort of okay shoes for my little man. But, his success and confidence is so much more important. I can’t reiterate how badly he needs the SMOs on to be able to walk, even now. There are many times at home where I have to put his SMOs and shoes on just so he can move around and play safely. The whole family will be in pajamas, but Jack also has his shoes on. Watch out because he’s truly a toe crusher! Sometimes putting Jack’s SMOs on is a quick process, but other times it takes a full 15 minutes because he fights the entire time. Depends on the day and I’m sure many mamas can feel me on that. So basically the SMOs have been wonderful for Jack. Our biggest struggle with SMOs have been SHOES! Not only were there not any cute options, there just weren’t any options. None of the AFO recommended shoes worked for Jack. I spent so much money on shoes just trying to find something that would work for Jack’s chubby little foot and those bulky SMOs. We started with those plain ‘ol new balances and had a few other pairs with laces as well. Not bad, until…*insert terrible choking noise here* WHAT THE HECK? I had to frantically pull over to the side of the road on the way to therapy one day because it sounded like Jack was choking. Oh he’s not actually choking choking, just has some SHOE STRING stuck in the back of his throat and it’s gagging him. This began the shoelace chewing fiasco. You would think that one choking experience would have been unpleasant enough for him after he actually threw up, but ohhhhh no! This happened on repeat to the point that I never wanted him to wear shoes. That is, until I found Ikiki shoes!!!

I was scrolling through instagram one day and saw that the company that makes Jack’s SMOs, Surestep, posted a photo of puppy print SMOs and puppy Ikiki shoes. I asked if they REALLLLY fit with those shoes or if that was just a cute photo. When Surestep said the shoes fit their brand of SMOs, I immediately jumped over to the Ikiki website to purchase because not only were they adorable, but also NO LACES so they were also safe. I ordered Otto Sanchez, all the shoes have cute little names, and both Jack and I immediately fell in love when they arrived. To make any shoes fit with SMOs, you have to take out that bottom padding piece (not sure if it has a name or not, but see photo at bottom if you’re confused). It was the ultimate Cinderella moment as I slipped the shoe over Jack’s SMO. FIT LIKE A GLOVE! Jack extra approves of the Ikiki shoes because they squeak. The squeakers can be turned on and off easily, but Jack finds the “squeak! squeak!” extra motivating! We are currently the proud owners of two pairs of Ikiki shoes, both Otto Sanchez and Sascha the Narwhal. This is not an ad, but a note from a mama who spent so much time looking a shoe that would be transformative for my son with SMOs. These shoes were just that! Ikiki shoes are durable and affordable as well, which is amazing because decent toddler shoes are super pricey usually. I was sure there would be some terrible flaw once they finally came, but there was not. They really work for Jack and my life a whole lot easier! We are pretty sure the Ikiki shoes will make you smile too and I hope our anecdotes can help another kiddo or struggling mama in a similar situation. Please feel free to message me if you have any questions about SMOs or otherwise! You are not alone and your kiddo can still wear cute shoes! 🙂

 

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The soft piece in the very bottom is what you have to pull out for the SMO to fill well! It looks weird, but that cute plastic orthotic is going in so it doesn’t matter!
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Every detail of the Ikiki shoes is adorable, especially the animal tails in the back! This is Sascha the Narwhal!

 

Metabolic Mama Origin Story

 

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What if I told you that I felt like I have been in a fog for the past few years? If you have a child with medical needs then you may feel similar, hell even if you don’t. I think I have let the intense severity of what we’ve been through take hold of me without inviting it to. I am proud of the way I have taken care of my son, but I haven’t nurtured my family. I feel like I can barely take care of myself most days, but luckily that comes as a form of habit. I thought sharing our journey was the key to healing, but recently it has become more clear that I need to be an active part of my own healing so that my family will feel whole again. As independent as my daughter and husband are, they still look to me for emotional guidance in our day to day lives. That has been such a difficult and overwhelming load to carry as I try to process my own feelings and navigate life as a special needs parent. But as this fog lifts and life carries on, I realize that it is time to take control instead of letting my son’s metabolic disorder continue to run my life.     {Metabolic Mama Origin Story….dun dun dun!}
You already know that Jack’s metabolic disorder runs our life (haha), even though we are able to control it fairly well. Life has gotten a little less difficult as Jack has gotten older, learned to eat on his own, and required less and less of his metabolic formula. These are all good things, but I am ill prepared for a life making metabolically specific cuisine for toddlers. I am BARELY domesticated. I hate the kitchen and I loathe cooking (I know, this should be fun, right?). As an adult, I still don’t eat regular meals; I do sort of a grab and go, whatever I can eat on the run. So we can definitely say that I am at a disadvantage when it comes to cooking, meal prep, etc. because I already do not want to be in the kitchen. I like Cook for Love’s motto of, “you might not love to cook, but sometimes you need to cook for love.” ←that needs to be me. It’s a new year and I have an awesome new planner so here I am committing to myself and my family in hopes that I can break these bad habits that trauma has created in our lives.
Chaos has reigned supreme too long in my life. Granted, it is a chaos of my creating. I was used to the high-stress life that revolved around recurring hospitalizations for my son. However, Jack is 2.5-years-old now and he has not needed to be inpatient since April…and whoa mama that is huge! There are a few reasons for this, but the main reason is that I have finally learned (and grown confident enough) to effectively take care of Jack at home when he is sick (woo hoo!). My current motto on hospitalizations is that as long as there is enough Zofran, we can make it at home! So many doctors prepared me for absolute despair and I have been living day to day since Jack was born. I think this is ultimately what I mean by feeling like I am in a fog; I can’t see anything up ahead because the fog is too thick so I just take it day by day. My job as a metabolic mama (aka mom to a kiddo with a metabolic disorder) is too important to let chaos reign any longer. The overall function of Jack’s brain depends on his diet and I know all too well what can happen when his metabolism is out of control. This is my circus and these are my monkeys so it’s time to tame the chaos for the benefit and health of my family.
This metabolic mama is trying so hard to establish some new (and improved) habits so forgive the cheesy “new year, new you” feel if you’re getting that. This is what’s up: I am tired and teaching yourself new behaviors/habits is incredibly hard. It just so happens to be a new year so I’m going to dedicate myself fully to these new habits so they will (hopefully) become a long term lifestyle. I decided it would be important not only to incorporate my new journey with meal planning and feeding a kiddo with a metabolic disorder, but also feeding a ridiculously picky eater (aka Rowan). Jack’s hospitalizations, diagnoses, and overall difficult start to life has also taken a huge toll on Rowan. While you might not be able to tell from looking at her big smiling face, her already minimalistic eating habits have turned into almost non existent ones over the past 2 years. In addition, Rowan has been very sick over the holidays, going on two full weeks now, and I know that if she had better eating habits then I could keep her healthier. That is not to say that her eating habits have caused her sickness, more so that this illness has put into perspective how poorly she eats. Thus, my goals with this new metabolic mama journey will not only cater to Jack, but also Rowan. I’m excited to learn, grow, and share what I find along the way because this is going to be an enormous challenge for me.
Did I mention that I hate cooking and all things kitchen that don’t come out of a Keurig and into my coffee mug? My feral tendencies in the kitchen are going to make me work hard for success on this one. I think the full weight of Jack’s disorder and what it will mean long term hasn’t set in until more recently. As most of you are aware, Jack has a gtube and a disgusting special Lysine & Tryptophan free formula that can be classified more as medicine than formula. When 2018 began, Jack could eat very little by mouth due to sensory issues and protein constraints. As the year has progressed, Jack’s RD was able to add more natural protein to his diet and less formula. He can currently have 20g of protein per day so most of the meals I share will be low protein. However, I do need some good high protein options for Rowan…they basically need opposite nutrition so this should be fun! I want to empower other metabolic mamas/medical mamas/special needs mamas (whatever you want to call us, just f*cking be kind when you do), to take control of whatever they need to in order to give their kiddo(s) the best quality of life. For me right now, that means taking control of nutrition and diet in my household. One of my main goals in sharing more of the metabolic side of our journey is transparency. I want to be honest about what works and what doesn’t work each week, versus snapping a bunch of cute pics and posting a recipe. I hope it works, I hope you like it, I hope it’s helpful, so so many hopes! Thanks for reading & Happy New Year, friends!
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I was able to be creative with tube feeds so now I have to tackle PO feeds!
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And this is how Jack feels about food today! He’s pretty good for his tube feeds, but he doesn’t like being messed with so it’s best to approach when he’s sleepy!
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The upside to Jack’s metabolic disorder is that we got to trade all these meds for one med + the special metabolic formula!