Newborn – Metabolic Mama

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!

Epilepsy Awareness: Siblings Edition!

It’s a good thing that Jack’s big sister, Rowan, was already in love with butterflies and the color purple before he was born. These important symbols of epilepsy have sort of become staples for everything in our life. What color should we get is never a question; we always purple for epilepsy awareness. If it has a butterfly on it then we are definitely getting it (doesn’t really matter what it is)! Epilepsy Awareness is so important to our family, especially Jack’s big sister! This post is dedicated to ALL the special needs siblings out there. You are seen, loved, and so important to this world!I am a different mom than I was before Jack was born. I am not sure if this is better or worse for Rowan. I do know that it has been one of the most difficult parts of this journey for me and certainly one of the most difficult to talk about. Since the day Jack found himself in Egleston’s PICU, I have struggled to be the mom that both of my kids need. I had to jump all in to protect and fight for Jack. From the very beginning doctors were confused by Jack. He had a brain injury and was having seizures, but they didn’t know why they so they were throwing the kitchen sink at us. I had to be fully present every second to make sure one decision didn’t cost my newborn son his life. The mystery that was Jack only got deeper as time went on until one day we were faced with how to explain to our 4-year-old that her newborn brother was going to die. Through it all, I had a really hard time accepting how perfect Rowan was versus how sick Jack was…why was there no balance?? Of course this wasn’t Rowan’s fault, but I hurt for my sick boy and I didn’t understand how such cruel things can happen to children, to newborn babies. I wish I would have handled so much differently in the beginning, but mostly I wish I would have encouraged a relationship instead of trying to protect Rowan from Jack & protect Jack from Rowan.

Rowan Eliza is my oldest and the one who made me a mommy, and she is turning 6 in a month. She was 3.5 years old when Jack was born and she wanted a sister. When we told Ro that she was going to have a little brother, she called him baby Lucy and said he would be a girl, not accepting a thing we said as the truth. I would literally have people say, “I thought you were having a boy. Rowan told me you were having a little girl named Lucy”. My outgoing, gregarious, and incredibly empathetic little girl had her whole world turned upside down the day her brother was born. Instead of life with a new little brother, she got life with her grandparents while her mom and dad were hours away in the hospital with her new brother. There’s no way to protect your other child(ren) when a tragedy occurs. Jack was in status epilepticus and being life-fllighted, but Rowan was also along for the ride. She sat in the PICU waiting room for over 10 hours that first day and came back almost every day with her grandparents. Rowan was the first one to adapt to our new life when Jack came home from the hospital. Jack wasn’t the only baby having seizures and therapy appointments, Rowan’s baby dolls were also going through similar experiences. Her baby doll named Sunny even had an NG tube with the same tape as her Jacks. She would get competitive some days when I was taking care of Jack. She would walk by in her plastic princess heels ask how therapies my baby had today; of course, her baby doll always had a few more appointments than my baby (aka Jack) did. After the first several hospitalizations, it became obvious when were about to take Jack to CHOA. Rowan developed a stiff upper lip and would help me pack a bag because she knew we would be there a few days, never making me feel bad for leaving her.

After we met with palliative care for the first time, it was suggested that we speak to a child life specialist about to approach this subject with Rowan. We did this in hospital one day with Rowan. The child life specialist gave Rowan this special bear that had a pouch where she could put messages she wanted to write to her brother or pictures she wanted to draw for him. I was so happy for this sweet little message bear and Rowan 100% rejected it. She would touch it, hold it, talk about it and every time I have tried to talk to her about that bear since, she still does not want to go there. It is so interesting! I feel like it is her own private revolt against the mito diagnosis and the “he’s going to die” inevitability that hung over our heads for so many months. It used to make me so sad because it felt like she was rejecting her brother, but now I am proud because it was her own way of protecting her brother (and herself maybe) by protesting against the stupid hospital bear. Rowan has always been Jack’s biggest cheerleader, but it is not easy for siblings to sit in doctor’s offices and therapy waiting rooms. You forget what they hear and what they are learning during phone calls with insurance, doctors, schedulers, etc. This is your life and they can’t escape it, just as we can’t. I got off a particularly upsetting phone call with neurology one time and Rowan asked me, “Mommy what is brain damage?” When she plays pretend, you will often overhear her saying that so and so had a genetic disorder, but does everything other kids do. I mean she is just the best despite all the pain and sadness has surrounded her for much of the past few years. Rowan’s daddy and I missed her 4th birthday because Jack was in the hospital and doing really poorly. She and my mom sat tried to eat the Barbie cake (see photo) and celebrate through the sadness. We’ve moved past all of this on the surface of course, but it still weighs so heavy on my heart and mind.

Rowan and Jack have recently developed a relationship that means so much to me thanks to the walker and Jack’s increased mobility and awareness! But, prior to this it was obvious that they didn’t know how to interact with one another once Jack’s seizures were under control and he was more aware. He is a hard kiddo to love on sometimes. Rowan wants to freely hug and kiss her little brother, but this is so overstimulating for him (even today) and he often screams, hits, and kicks her. He doesn’t like to be approached or touched without lots of warning, and even then he is likely to fight your advances. This used to hurt Rowan’s feelings so bad…”he’s pushing me away again,” she would cry. We have talked through things like this so much and I know that Rowan is wise well beyond her years. Her constant kindness and understanding always humbles me. To wrap up, I want to tell you about a little surprise that I am planning for Rowan’s 6th birthday next month AND I will be forever grateful if anyone can help me make this surprise EXTRA SPECIAL!!!

My heart is so heavy every single day with the weight of what I’m not doing for Rowan or how she always ends up having to wait because Jack needs something or has an appointment or is hospitalized. She’s NEVER once complained about her brother or uttered a selfish word. She tells me sometimes, “I remember what it was like before brother, but it would never be the same without him”. She’s been the strongest and most graceful of us all and her life has probably changed the most. If I could give this girl an experience she’ll never forget then maybe I could forgive myself for two years of missing things, failing her, and a lifetime of “hang on I need to give brother this first” or something similar. I got tickets to the Jingle Ball for her birthday, but now I need to figure out how she can meet her idol, Sabrina Carpenter!! ✨ HELP ROWAN MEET SABRINA!!! Does anyone know how I can get this amazing girl passes to meet Sabrina Carpenter at the POWER 96.1 Jingle Ball in Atlanta next month?! Hit me with your contacts AND SHARE PLEASE because this amazing big sister deserves the most special gift for her 6th birthday! We have tickets for the Jingle Ball, but I can’t find any info about meeting artists! THANK YOU!!!!

Pictured below is my sweet girl celebrating her 4th birthday with just her YaYa (my mom). We had tried to prepare for a party, even ordered this princess cake! But Jack was in status AGAIN and we things were pretty bad at the hospital. It was TERRIBLE for everyone. Below this photo is one of Jack jack in the hospital with Rowan’s Minnie mouse of she insisted keep him company in the hospital. ❤

This is the very first photo of both of babies! We had no idea about the secret battle Jack was fighting at this time!

Where does that leave Jack?

Hi friends! It has been a while so allow me to reintroduce for new followers! I’m Leah, Jack’s mom. We lovingly call him Jack-jack like from The Incredibles. Jack has a very rare genetic and metabolic disorder called Pyridoxine Dependent Epilepsy. This condition has left Jack with a brain injury, as well as many struggles and delays. To put it simply, Jack’s body lacks an essential enzyme known as Antiquitin, which breaks down the protein building block called lysine in the brain. The breakdown of lysine in the brain is necessary for the brain to function properly. This essential amino acid breakdown doesn’t happen in PDE patients and the build-up of lysine is toxic to the neurotransmitters in the brain, resulting in seizures and abnormal brain function. What does this mean for Jack?

For the first 5.5 months of Jack’s life, he suffered from intractable epilepsy (uncontrolled seizures). He was life-flighted from our hometown to the best Children’s hospital in our state at 5 days old in status epilepticus; he was in a constant seizure state that could not be controlled. For the next several months, Jack was a medical mystery. He spent so much time in the hospital having seizures, being sedated, getting tests done. When Jack was 11-weeks-old, he had his second stay in the PICU at CHOA. His seizures were getting worse and worse. He was on 3 different types of anti-epilepsy medication and still he was having terrible seizures. The doctors did a bunch of tests and an MRI and told us that Jack had Mitochondrial Disease and that he was going to die. We were devastated but kept fighting for Jack. That turned out to be a misdiagnosis, but does illustrate how sick Jack was at the time. After much genetic testing, Jack was properly diagnosed with PDE and we have been fighting for his development ever since! At 6 months old, Jack had the skills of 1 or 2-month-old baby. He still suffers many delays from everything he has been through and his health is a daily battle. He is on a diet and therapy specific to his condition. He sees Neurology, Genetics, GI (because he has a feeding tube known as a G-tube), Neuro-developmental doctors, Developmental Pediatricians, as well as a Physical Therapist, Occupational Therapist, and Speech Language Pathologist. In addition to PDE, Jack has been diagnosed with Global Developmental Delays, Sensory Processing Disorder, ASD, Apraxia, and Cerebral Palsy. Jack is the happiest, sweetest, most wonderful little boy despite everything he has been through! He loves life and exploring his surroundings more than anything. He has been completely stuck and unable to do this until his doctors prescribed him a walker! We have been waiting on Jack to get his own walker for over a month now and still no word…Currently, Jack is borrowing a walker from his Physical Therapist while we wait for the insurance company to approve one of his own. I live in fear another kiddo will need it and we will have to give it back.

And this is where we circle back to the title. Where does this leave Jack? Out. Because Jack was not a little sicker or because it wasn’t caught in time, it is a constant battle to get him the services and equipment he needs. Jack was likely having seizures in utero that were not caught. I used to say I could feel him hiccuping all the time…makes me sick to think those were seizures. Anyway, the seizure activity was not caught (by me) until he was 4-days-old. I hate thinking we could have been better prepared…where was our help and our support? We have always been handed these huge and life-altering diagnoses with little no support. The doctors can only do so much and this shit is EXPENSIVE! This is not supposed to be a bitch session so I apologize if that’s what it’s turned into. However, the struggles and battles we face as special needs parents are so soul-crushing that I feel like writing about them may help me shed some of my anger and frustration.

Our biggest struggle is getting Jack what he needs. Jack’s doctors say he needs a certain amount of therapies to be able catch up and have a decent quality of life. This is 6 therapies per week and we currently do 5 a week to try and save a little money. We have private insurance through my husband’s work. He has a great job and we are very lucky. However, I was unable to go back to work after Jack was born and his daily needs keep me from being able to work a full-time job now. This means we are stuck. We live in a basement apartment at my parent’s house because our finances are so strained. Can you imagine?? We have two windows for the whole place. Again, not complaining because we are very lucky. Private insurance doesn’t cover much of Jack’s therapies and they only pay for so many visits. In addition, we also do not qualify for any assistance so we are stuck. See a theme? Jack is two-years-old and does not walk or talk. He does not have the fine motor skills to ever be able to button or zip, hold a pencil, etc. THIS IS WHY KIDS NEED THERAPIES! Shit, sorry did I shout that?! Thanks to therapies, Jack has learned how to do everything he knows how to now. Jack LOVES his walker and the independence/confidence it gives him. He is a totally different kiddo since he got the walker and his development is taking off! At two-years-old, Jack was able to stand up and hug his sister for the first time. I am livid thinking about the waiting Jack would be doing if his PT had not given him this walker to borrow. I can only imagine the price tag that will be attached once the walker is approved. Instead of battling insurance today, I decided to write. I hope there is a way to shed to this hard shell that these battles have given me, but so far I just feel like fire-breathing dragon that scorches anyone who gets too close.

P.S. As always, I welcome questions and I am always open to helping in any way I can. If you want more info on PDE, check out http://www.pdeonline.org

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).