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!