Month: May 2019

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!