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. ❤