It’s no secret that social media has changed the way we perceive our lives. I am so guilty of gushing over how perfect the lives of others seem through the screen. I was well on the way to my very own picture perfect family when life stopped in its tracks. My whole world fell apart during a season (this season) when everyone is celebrating, cheerful, and thankful. I became an island of secret sadness and grief; a zombie amongst the Christmas elves. When my son was a newborn, the beloved holidays turned on me and became only painful reminders. My name is Leah and two years ago during this beautiful season of giving, my son was being taken from me.
My son, lovingly known as Jack Jack, was born on July 23, 2016. I was the happiest I had ever been as the wife of my college sweetheart (Cliff), mom to a vibrant 3- year-old daughter (Rowan), and now the mom of a newborn son (Jack). Rowan went straight to NICU when she was born for breathing difficulties, so I was overjoyed to have a “normal” experience this time around. Everything was great; I had Jack on a Saturday morning and we were home by Monday evening. I started thinking that this having babies business wasn’t so hard after all. And this is where I must forgive my younger naïve self because you just don’t know what you don’t know. And all the while I was soaring through pregnancy, labor, delivery, and the first few days of Jack’s life, he was silently struggling to survive. You know how the saying goes, the higher you fly…and boy did we ever fall far. Jack was life-flighted to a leading Children’s hospital when he was five days old because he was in status epilepticus. Status is just prolonged seizure activity with no recovery. I thought I was in a fictional episode of something when I first heard the words status epilepticus. Let’s be honest, it sounds made up or like some sort of Harry Potter spell. No such luck, though. Reality is so much more raw than watching other people through Instagram or your favorite TV show.
I’m so excited to share Jack’s journey with a rare genetic and neurometabolic disorder called Pyridoxine Dependent Epilepsy. However, before I do, I want to share something even more important. This is something I wish I could go back and tell myself, tell my family & friends, and shout from all the freaking rooftops. We are the writers of our own narratives and even when it feels like there is nothing left, we are still in control of the narrative. No one else can write your story, especially not a doctor. DON’T let a doctor or a diagnosis dictate the way you feel about your life or make you question your own feelings. Don’t confuse a doctor’s opinion with your own feelings because I have done this so many times and each of these times, I failed my son. He needed me to be his voice and speak up, not take what a doctor said as infallible. I want to make sure I never make this mistake again so now I advocate every day to make sure other mamas in similar positions don’t feel so painstakingly alone. My life is different than I thought it would be for sure, but it is so much more beautiful than any previously planned insta worthy life. So instead of feeling sad when I write this story, I feel proud to be Jack’s mom and proud to be vulnerable if it helps even one person.
JACK JACK’S STORY:
Jack was admitted to PICU at the children’s hospital that I previously mentioned, and he spent 5 days there before being transferred to a neuro floor with the diagnosis of HIE (Hypoxic Ischemic Encephalopathy). The neurologist who delivered this news was noticeably upset and told us that this meant Jack would have Cerebral Palsy (CP). The way this neurologist delivered the news was absolutely devastating. I had no idea what CP truly was and the doctor didn’t take time to explain. She just acted like we should be devastated because this meant our son had a severe brain injury and so we obliged and were absolutely devastated. If I had known ANYTHING at all about the CP warriors that I know today then I would have never felt devastated because I would have known the possibilities for my child and known there was so much hope. But unfortunately, our world chooses time and again NOT to celebrate or show different abilities so instead of hope, we have fear. If I can replace anyone’s fear with hope then my job is done and my heart is full. I am here to be transparent about our journey in hopes that the world will also learn to embrace differences and accept people as is instead of always looking for perfection.
After our first life-altering hospitalization with Jack, we immediately started early intervention to try and compensate for what had been damaged in Jack's brain. Jack was placed on many medications, including a large dose of phenobarbital to control his seizures. We swallowed his bitter diagnosis as well as the treatment plan and started again. The further from the hospital our lives got, the more hopeful we grew. Unfortunately, Jack required more hospitalizations within weeks for breakthrough seizures. He was hospitalized 3 different times before being admitted again to PICU at 11-weeks-old in status epilepticus. This time the narrative that was slowly spiraling out of control again would become even more unimaginable. During this horrific hospitalization, Jack was inpatient just over two weeks. He suffered so many seizures, including an incredibly rare type called gelastic seizures. Gelastic seizures are uncontrollable fits of laughter and most often associated with a certain type of brain tumor, as we were informed. Thus, when Jack went in for a special kind of MRI known as an MRS, we knew he had a brain tumor but we were hopeful that he could beat it. Never could we have imagined the cruel results this test would bring. We met with the team to finally get the dreaded results. There were three doctors, along with my mom, my mother-in-law, myself, and my husband. They brought in a big computer screen to show us the MRS like we would understand anything through the crushing blow they were about to deliver. We were told that Jack had Mitochondrial Disease and in no uncertain terms that he would not live long. We were told to stop all therapies, go home, and love our baby. We met with Palliative Care, got our special new medical supplies for Jack’s care, a new list of medications, and were sent out into the world to live out something that you would expect to see on Grey’s Anatomy; only on Grey’s, Derek Shepherd would come running to save the day.
Over the next few months Jack was hospitalized four more times, but proved that he wasn’t going anywhere. I was no longer listening to the doctors just because they were doctors. I was letting Jack and my mama instincts lead me in the best way they could. I was making the best of our new life, even if that meant frequent hospitalizations. It was a privilege to fight for my son and that’s exactly what I had to do. I decided I was no longer living out a Grey’s Anatomy nightmare, but instead had to become more of a no-nonsense Sons of Anarchy-type mama so the doctors would hear me. So when Jack was hospitalized in December of 2016 after weeks of struggling with severe seizures and no relief, I came in like a wrecking ball…and I mean hot!!! During this two-week hospitalization, it was beyond clear that Jack was finally fighting for his life for good. We missed our daughter’s 4th birthday and almost Christmas during this pinnacle hospitalization. BUT like some sort of Christmas miracle, the genetic testing our son’s neurologist had sent off almost 3 months prior came back. Just like that, as simple as unwrapping a gift, we had an answer to everything. The doctors had overlooked something in the very beginning as Jack’s presentation was not exactly typical of this disorder. Jack was diagnosed with a gene mutation of his ALDH7A1, causing the rare neurometabolic disorder called Pyridoxine Dependent Epilepsy. This time we were told that not only was our son going to live, but there was a also treatment for his disorder that could likely give him a good quality of life. It was hard to believe the same doctors who had just told us months before that there was no hope for our son were now not only giving us hope, but giving us our son’s life back.
Again, this diagnosis was presented grimly as there are still many lifelong issues PDE patients must deal with, including developmental delays and severe communication deficits. In addition, Jack still had a brain injury due to an undiagnosed neurometabolic disorder that wreaked havoc on his brain for 6 months. We knew there was no way to know how he would develop, but I was determined to prove everyone wrong and give Jack back the time that had been wrongfully taken from him. I had been given the most precious gift and I knew I had to fight to help him regain his quality of life. This meant that we started a rigorous schedule of feeding, physical, occupational, and speech therapies. In addition, Jack was able to wean off ALL AEDs (anti-epilepsy drugs) because his specific disorder is controlled through diet. He is on what is known as Triple Therapy for PDE. He gets a special lysine and tryptophan free formula, arginine supplement, and a high dose of Pyridoxine (B6). I am beyond thrilled to share that after starting this treatment, Jack’s seizures became under control within 6 months and he has been seizure free for a little over a year now. Jack’s life is still super busy with therapy appointments. He does 2 sessions of Speech therapy, 2 sessions of Physical Therapy, and 2 sessions of Occupational Therapy each week. In addition, Jack attends a music class as a therapy option and endures many mommy in-home PT/OT/ST activities. He has a Gtube for his medically necessary formula and supplements. He is also able to eat by mouth now, but has a very strict low protein diet to ensure the success of the triple therapy method of treatment. Jack recently learned how to walk after much work in PT and the help of a Kaye Walker. He still struggles in many areas and is globally developmentally delayed in all areas. But if you ask Jack, I know he thinks he is the king of the world just like all kids do and should at his age Jack’s disorder has led to many other diagnoses, including CP, Sensory Processing Disorder, Apraxia, ASD, and more. But one of the most important things I have learned is that these labels and diagnoses mean nothing. They are important because they help kiddos get the therapies they need and help guide care, but they are not synonymous with your child and the doctors who hand them down do not dictate how you feel.
So if the whole world and especially the holidays seem to be turning against you, remember that you get to control this narrative! And when you don’t want to be in control, just turn on Grey’s and watch someone else’s fictional life go to sh*t. We are all insta worthy, even if we are bursting at the seams trying to navigate a life less traveled. I learned this the hard way, but I am here to tell you that it is true! Don’t accept defeat and devastation just because someone hands it you. Emily Perl Kingsley’s beautiful poem about raising a special needs child is truly the best way to describe what life is like when you find yourself on a journey that’s much different from the one you planned. Please read below and thanks for sticking with me! I love connecting with other moms and helping in any way I can so please reach out if you would like to connect or have any questions. I currently serve on the Children’s Healthcare of Atlanta Family Advisory Council where we work to make sure the family voice is heard throughout CHOA. In addition,
I’m incredibly passionate about helping others with PDE and other metabolic disorders/epilepsy. I recently applied to go to the capitol with Rare Advocates to work on getting PDE added to the newborn screening so no child or family will ever suffer the way we did again.