It’s that time again, friends – I don’t mean the Holidays, but something just as special and important – Epilepsy Awareness Month! While Jack does not have complete seizure control, he is able to go very long periods of time without having an episode thanks to his special metabolic diet that is very similar to the one that individuals with PKU and GA-1 are required to follow. These diets are low-protein and pretty grueling for little kiddos (and their parents). While seizure control is not a daily battle we face, epilepsy still runs pretty much every aspect of our lives. I don’t say this in a scary way because I am beyond grateful to have a treatment for Jack’s rare disorder, known as Pyridoxine Dependent Epilepsy. I say it because it is true. I have to calculate every inch of Jack’s day because he can only have 19 grams of protein per day, in addition to his special Lysine & Tryptophan-free formula that he receives via Gtube. Epilepsy means daily frustration of getting a low-protein diet perfect so that my son’s brain can function appropriately. Unfortunately, the etiology of his epilepsy was not discovered until damage had been done to Jack’s brain. It was, however, discovered in time to save his life. This is one of the reasons I will always talk about epilepsy, and especially during the month of November. A diagnosis and a hopefully a treatment, a community and connections that pull you out of dark places, and persistent/fierce advocacy: These are the reasons why I will never stop talking about epilepsy.

I will never stop talking about epilepsy because my words could help others find a diagnosis, treatment, therapy, or something (freaking anything) that helps improve quality of life. Prior to Jack’s birth, I knew nothing about epilepsy. Additionally and shamefully, I would have likely dipped out of any conversation about epilepsy because it’s not a pretty topic. I have seen people shy away from topics so many times because they are messy and ugly – I am absolutely guilty of this so now I talk about epilepsy any chance I get. So many people, 1 in 26, live with epilepsy so destigmatizing [by talking about] this topic is one of the best ways to spread awareness and combat fear. One of the worst parts of telling family, friends, strangers or a new acquaintance that your child has epilepsy is getting the sympathy and “I’m sorry” looks. (Me internally: “Don’t be sorry, be aware!”) Be an advocate for those living with epilepsy by being open to hearing and having conversations about seizures and then using your knowledge to continue spreading awareness and advocating wherever you can. I recently attended an event where the mother of a child with a rare disease (that involves epilepsy) was speaking about how she wanted a gene therapy to help her child be “normal” and so her child could live a “normal” life. This did not sit well with me because that’s not what I want for Jack. Of course, I would love a gene therapy for his disorder; not to make him “normal,” but to give him the best possible quality of life. This leads right into the next reason I will always talk about epilepsy: community and connection!

If you’re reading this then you likely know me online or in real life (maybe both!), but if not the biggest thing for each of you to know if that you can ALWAYS send families to me – struggling with epilepsy, rare disease, inborn errors of metabolism, etc.- I will always share my contacts and try to help any person or family struggling with an epilepsy battle or beyond. I will show up and will do anything I can to help. Ask around if you need references ;). The online support for epilepsy has grown so much over the past 3.5-years since Jack was born and it’s so nice to see the conversations, support, and awareness we all spread daily just by sharing our stories. If you are new to the unwanted world of epilepsy, then let me welcome you wholeheartedly because we are THE MOST supportive and fierce family who will stand by your side. If you don’t where to start, just begin by sharing your story and following some other families in similar situations…just slowly start to connect. I wasn’t ready to connect for a long time and it’s also okay to sit back and watch until you’re ready to connect and share. An important note and another reason I will always share Jack’s epilepsy journey is for advocacy.

One of the biggest battles those affected by epilepsy face is that of getting the correct diagnosis causing their epilepsy AND obtaining the proper drugs that treat their specific epilepsy. While there are very common and easily obtained anti-epilepsy drugs, there are also medications like CBD oil (or even ACTH for infantile spasms can be difficult to obtain in many countries) that many patients and families cannot obtain. Do our Policymakers know about epilepsy? How can they make informed decisions on these drugs or policies that affect those living with epilepsy without speaking to patients? Policymakers are not going to track us down and ask for our opinions so it’s up to us to advocate for policies that will benefit those facing serious battles like epilepsy and rare disease. I will always do this – starting with talking about epilepsy, sharing Jack’s journey, and continuing to help anyone who reaches out to me.

I have been shamed for speaking about epilepsy, sharing videos, and not keeping my battles more under wraps. If these things offend you, then please don’t come here because I will always share openly and honestly. I encourage you to share your story in YOUR style, whatever this means to you. Share photos of your child or don’t, share all the grueling details or hold them back, share and hold on to whatever you want because there us one way & no right way to do this, my friends! ❤

Reach out anytime you need anything – @metabolic_mama on Instagram or DM me for the digits! 💜💜💜

XOXO,

Leah

Jack is so many things. He’s capable, he cute as a button, he’s smart and he’s stubborn, he’s affectionate, he’s friendly, and he means so much to many people. But, before I even got to the chance to know and love my son, I was given a limit on his life and a limit on my time with him. With a life-limiting + incorrect diagnosis and poor prognosis, my 11-week-old was in a fight for his life. You would never believe it looking at my big healthy boy today, but he almost wasn’t here. He has a rare disease that was almost missed. Jack saw over 20 different doctors–specialties like Neurology, Human Genetics, Infectious Disease, ect.–in one of the US’ leading Children’s hospitals. Jack’s rare disorder, known as Pyridoxine Dependent Epilepsy(PDE), was overlooked for 6 solid months while he struggled and suffered with intractable seizures and a subsequent brain injury. This slow struggle towards a correct diagnosis is not uncommon in the rare disease community, and in fact, Jack was diagnosed quickly for having a rare disease. According to Global Genes (my go-to for all things rare and genetics related), the average time it takes for a rare disease patient to get a correct diagnosis is 4.8 years. My son could not have survived this long without the correct diagnosis + treatment and that is why I tell as many people as will listen. Awareness is everything in the rare disease community, especially when there is a treatment that is absolutely life saving like Triple Therapy for PDE.

I was thrilled when I was told we would be swapping out (slowly of course) 5 different AEDs (Phenobarb, Keppra, Topamax, Fospheny, AND the regular use of diazepam) for Pyridoxine (B6) and a new diet. For my non-neuro friends, I used the “pet words” for some of the AEDs (Anti-Epilepsy Drugs) because it’s one way we exert a little control over the meds. (ha!) WHAT? Is this even real? We went from absolute devastation, being told that our infant son had mitochondrial disease and his brain would “continue to atrophy until he passed away” to he has an Inborn Error of Metabolism and needs to see Genetics and a Metabolic Nutritionist ASAP. So he is going to live? YES! I learned the hardest way possible that doctors are not always right; they do not get to write the story of your child’s life and the fight is always worth it! I know many readers already know the entire story, but the Mito diagnosis was Jack’s second misdiagnosis. When he was just 10 days old and in the PICU after being life-flighted, we were told that he had a Hypoxic Ischemic Encephalopothy (HIE). There were pieces of Jack that fit with each diagnosis at the time so the neuro team did what they could with the information available at the time. However, the information could and should be better for inborn errors in metabolism (like PDE) that can be tested and added to the newborn screening process. As the mother of a kiddo with a rare disease, I can tell you caregivers fight, scrap, and claw for every inch of information that will help our children. And the battle is always worth it.

All of this being said, I have learned SO MUCH about PDE and want to give an update on Jack Jack. This has taken me so long for a few reasons: I want to thoughtfully explain PDE in a way that does the patient’s justice AND this update involves a subject that makes me most uncomfortable–intellectual disability. We have been prepared for many things with Jack; from the beginning we were prepared for a severely brain-injured child with a completely unpredictable future, next we were prepped (by doctors) for our son to die, then we were told his true diagnosis and prepared for unpredictable delays. Whew! I’m grateful for, not disheartened by, these diagnoses now because they made me fight like hell for my son. Jack is now 2.5-years-old and will be 3 in July. He has carried and still carries many of these diagnoses: PDE, ASD, Apraxia, SPD, GDD, Hypotonia, CP, etc. Last month Jack had two major appointments that really helped me understand, come to terms if you will, with what my son’s diagnosis of PDE truly means (at least for him, each child is so different). Here’s the medical portion: Jack is sometimes (hopefully not all the time) having seizures while he sleeps. His EEG tells his neurologist that is brain is processing at a little bit of a slower pace than typical kiddos while he is awake. These were both things I was unprepared to hear. Jack is currently on 300mg of Pyridoxine, which is a lot considering the main side effect is peripheral neuropathies. Most people need only 2mg of B6 per day just to put that in perspective. Jack is actually doing quite well currently and on an upswing with development so we aren’t interested in adding an AED at this time. My main question that I kept coming back to was, “will Jack have an intellectual disability?” I don’t know why I didn’t really prepare myself for this portion of Jack’s disorder; after all, it is written quite clearly that PDE patients are likely to have a learning disability. The idea of the gap between Jack and his peers widening absolutely crushes my heart, but I don’t have much time to mourn so on we go! Another interesting development in Jack’s diagnoses is that both the child psychologist and neuro-development team that Jack saw do NOT think Jack has ASD. They said that Jack has some very severe delays, most severe being his gross motor skills. They said that Jack struggles to orient himself with other people because it’s all he can do to hold himself up. He does not make good eye contact because his neck and core are so weak. He wants to make eye contact, they say, but it’s just too difficult because he is so big, yet his tone is so low. Sometimes he just looks like all his parts don’t work together quite right, but it’s what make him Jack Jack! Needless to say, these appointments have clarified and sharped so many things for me.

Jack’s incredible neurologist, Dr. Koh of Children’s Healthcare of Atlanta, told me that while many of those above diagnoses apply to Jack clinically, he doesn’t need them in addition because he has the “unifying diagnosis” of Pyridoxine Dependent Epilepsy. PDE, she explained, is a “metabolic encephalopothy”. What the hell does that mean? It means that Jack’s brain works differently at the metabolic level, causing him to develop differently than neuro-typical children. When this “metabolic encephalopthy” was not being properly treated, it caused damaged to Jack’s brain. The damage, or what they like to the “dull spot” on Jack’s MRI explains his ataxia, but PDE explains everything else. PDE is rare so there isn’t much written, not many resources to compare, and not enough kids diagnosed and treated properly to predict what Jack’s future looks like. I know all the rare patient caregivers can relate to that. Interestingly, Jack’s doctors (not just Dr. Koh) say that PDE is really the only diagnosis Jack needs because PDE implies developmental delays, epilepsy, hypotonia, etc. While I have always understood this, I have also spent so much of my time fighting with insurance for early intervention services and keeping ER doctors from killing my son because PDE isn’t an instantly recognizable diagnosis. An insurance representative once said to me, “I don’t understand why your son needs so many therapies, it’s not he has Down Syndrome or something”. I hung up immediately so my anger for my son and then my friends and loved ones with Down Syndrome didn’t vaporize him through the phone. Maybe, hopefully it still did. Dr. Koh basically told me that it’s my job to change this and make people recognize and remember PDE. So remember this: PDE is super similar to PKU and both can kill you if not properly treated.

I am always up to chat more about PDE and provide resources so don’t hesitate to reach out! Happy Rare Disease Day, my incredible friends!! ❤

What does World Rare Disease Day mean to you? Have you ever even heard of it? Prior to having Jack, I didn’t even know there was a day dedicated to individuals who face the unknown daily. I say the unknown because that is basically what rare means; it means you will hear a lot of “we just don’t know yet” or “we have to wait and see”. Rare looks a a bit more medical than magical in the real world. But rare is also beautiful, right? That’s what all the cute unicorn tees tell us…in a field of horses be a unicorn or whatever. Of course rare is beautiful in so many ways, but it’s also lonely. What they don’t tell you is that once you have that unicorn or are that unicorn, you will no longer have that field of horses. All of the sudden you are exposed and alone all at once. It’s almost like you don’t really exist anymore because your life is too difficult to fathom. My 2.5-year-old son is my unicorn and he is the most incredible little buddy who also happens to have a rare genetic and metabolic disorder called Pyridoxine Dependent Epilepsy (PDE).

Before Jack I had no idea there were so many genetic disorders, so many rare disorders of all varieties. I try really hard to read and learn a little about each new disorder that I learn about through a social media photo, hashtag, or a meeting at an outreach event, etc. I think that’s one the best things we can do to show respect for the brave humans who fight these disorders daily. That being said, PDE is pretty confusing to most people. I understand pretty well because I have to, but here goes:

“Pyridoxine-dependent epilepsy (PDE) is a rare genetic condition characterized by intractable and recurrent neonatal seizures that are uniquely alleviated by high doses of pyridoxine (vitamin B6). This recessive disease is caused by mutations in ALDH7A1, a gene encoding Antiquitin, an enzyme central to lysine degradation. This results in the pathogenic accumulation of the lysine intermediates Aminoadipate Semialdehyde (AASA) and its cyclic equilibrium form Piperideine-6-carboxylate (P6C) in body fluids; P6C reacts with pyridoxal-5′-phosphate (PLP, the active form of vitamin B6) causing its inactivation and leading to pyridoxine-dependent seizures. While PDE is responsive to pharmacological dosages of pyridoxine, despite lifelong supplementation, neurodevelopment delays are observed in >75% of PDE cases. Thus, adjunct treatment strategies are emerging to both improve seizure control and moderate the delays in cognition. These adjunctive therapies, lysine restriction and arginine supplementation, separately or in combination (with pyridoxine thus termed ‘triple therapy’), have shown promising results and are recommended in all PDE patients.” —> This is the treatment plan Jack is on, but because he wasn’t properly diagnosed until almost 6 months old it’s a very “wait and see” outcome for him and most patients until there is more research.

So let’s talk a little bit more about our unicorns, our rare disease warriors, and what they mean to the world. I recently worked with a media team in the UK to share Jack’s story. They made a beautiful video that had the most amazing supportive comments attached. They also published a written article about Jack. I am always asked what my goals are or plans are going forward with advocacy? The interviewer asked me this question and I answered that my first goal is to help get PDE added to the newborn screening process! Cool, right? (I think so!) But of course there were a few ignorant comments that struck me on this one. Here are two of the comments (one kinder than the other):

1.) I sympathize with the anguish these parents went through, but I’m not sure it’s practical to test every baby for something so rare.”

2.) You want every newborn tested for one of the world’s rarest diseases??

When people ask these sorts of questions or make comments like this, I get so confused. Do they know what the newborn screening process is? It already happens to every child, a little heel stick. Why is it so crazy to also test that blood for PDE bio markers? IT COULD LITERALLY SAVE LIVES! It literally makes me cringe because it seems like people don’t even know what newborn screening is or why it’s done. These are people whose future children I could be advocating for, but they don’t care enough to (at the very least) not make a comment that they don’t even understand. I guarantee if these commenters had a loved one with a rare disorder then they would care about rare, or least empathy, a bit more. Maybe the article didn’t do a good job of explaining why I want PDE added to the newborn screening process, but that was not the purpose of the article. The purpose was to celebrate a very brave little boy and shine a light on a rare disorder to give hope to others.

I did not even know that PDE could be screened for in an infant since my son went almost six months with having a correct diagnosis. During this time, he suffered immensely and even has a brain injury due to late diagnosis. Jack’s geneticist is the one who brought to light the fact that there are PDE bio markers that can be tested in newborns, just as there are bio markers that are tested in Jack every 3 months. In addition, if you take Jack’s case along with much of the research, it is quite to clear to see that many PDE patients go undiagnosed or misdiagnosed. Maybe PDE isn’t even as rare as we think. We just don’t know, which is why awareness and advocacy is important to me. I was even told by Jack’s neurologist that before the gene associated was identified, many of the kiddos with PDE passed away because they were resistant to all typical anti-epilepsy drugs (AEDs) and go into status so easily. Many PDE patients begin having seizures in-utero just as Jack did (only we didn’t know at the time) so by the time they come into the world, they have already had tons of strain on their developing brains. PDE can be most closely related with PKU, the disorder already tested for on the newborn screening because early metabolic treatment is so necessary. PKU is still considered a rare disorder even though the incidence is much higher than PDE. If the brain development and overall outcome of your child depended on as early a diagnosis as possible, then you would care about newborn screening as well.

PDE, along with PKU and many other disorders, is known as an inborn error of metabolism. Diabetes is the most common form of metabolic disorder if that helps at all. Basically people with metabolic disorders are lacking something important needed to help their bodies/brain function properly. These disorders are quite cruel, many are progressive, and even more have no treatment. This is why we should care about rare. We should care about rare not only because we love our beautiful unicorns, but also because the reality of the rare life is a desperate and isolating one. I guess a sad unicorn doesn’t make as cute of a tee, though. Care about rare because it’s all around and because it’s worth making the effort to try to understand, connect, and offer hope to others. Advocacy, awareness, inclusion, and kindness are the best way to beat the comments and ableism that make rare as lonely as it is beautiful.

You probably already know what AFOs are, but what about the AFO’s lesser known little brother, the SMO? Let’s give the SMO a little love today because they are so often overlooked. It has been incredibly difficult for me to find any accurate recommendations for shoes or even other kiddos who wear SMOs. So we are going to break that now and put the spotlight on the SMO. SMO is the acronym for Supra-Malleolar Orthosis. This orthotic supports the leg just above the anklebones or malleoli. The SMO is considered the shortest of the Ankle Foot Orthoses or AFO’s. The SMO is prescribed for patients who have soft, flexible, flat feet. Jack jack got his SMOs almost a year ago now. You may or may not have noticed; SMOs are slightly more incognito than AFOs. His physical therapist recommended the SMOs for these issues: Pronation, Hypotonia, Developmental Delay, and Poor coordination and balance. While these are all still struggles for Jack, his SMOs have truly helped him SOAR!
I didn’t really know what to expect with the SMOs. How would Jack react to them?    What about shoes? He was almost 20 months-old and still not walking or standing independently. I was excited about an option to help him get on his feet. We had our consult, got Jack’s chubby little feet measured, chose a pattern (sports bc he loves to watch hockey with his daddy), and then waited for weeks. When we finally got to pick them up, I had a few shoe options with me because I was so confused. At first glance, the SMOs are intimidating…like how the heck am I going to get that bulky thing in a shoe? I was told to buy shoes one size up to fit with the SMOs and that has worked pretty well for me since then too. I had three different pairs of tennis shoes with us when Jack tried on his SMOs for the first time. The ONLY pair that even remotely worked that first time was the standard grey New Balance shoes my mom had bought just in case. One we got Jack in his SMOs and shoes, he was not the least bit interested in trying to stand (hard eye roll–typical Jack). However, once he was ready to stand, he was so much more steady! I was worried he would hate them because he doesn’t like socks/shoes or anything that touches his feet, but Jack’s PT told me she thought Jack would love the SMOs as soon as he realized he was more steady and could do more with them. She was absolutely correct!

There was no learning curve, the SMOs were easy peasy! However, it did take a few weeks for Jack to work up to wearing them for several hours at a time. We found some really wonderful seamless socks and everything seemed great. I was a little bummed over the summer because there were no sandal options that would also allow for Jack to use his SMOs. I love shoes and I loathed that there weren’t any CUTE or even sort of okay shoes for my little man. But, his success and confidence is so much more important. I can’t reiterate how badly he needs the SMOs on to be able to walk, even now. There are many times at home where I have to put his SMOs and shoes on just so he can move around and play safely. The whole family will be in pajamas, but Jack also has his shoes on. Watch out because he’s truly a toe crusher! Sometimes putting Jack’s SMOs on is a quick process, but other times it takes a full 15 minutes because he fights the entire time. Depends on the day and I’m sure many mamas can feel me on that. So basically the SMOs have been wonderful for Jack. Our biggest struggle with SMOs have been SHOES! Not only were there not any cute options, there just weren’t any options. None of the AFO recommended shoes worked for Jack. I spent so much money on shoes just trying to find something that would work for Jack’s chubby little foot and those bulky SMOs. We started with those plain ‘ol new balances and had a few other pairs with laces as well. Not bad, until…*insert terrible choking noise here* WHAT THE HECK? I had to frantically pull over to the side of the road on the way to therapy one day because it sounded like Jack was choking. Oh he’s not actually choking choking, just has some SHOE STRING stuck in the back of his throat and it’s gagging him. This began the shoelace chewing fiasco. You would think that one choking experience would have been unpleasant enough for him after he actually threw up, but ohhhhh no! This happened on repeat to the point that I never wanted him to wear shoes. That is, until I found Ikiki shoes!!!

I was scrolling through instagram one day and saw that the company that makes Jack’s SMOs, Surestep, posted a photo of puppy print SMOs and puppy Ikiki shoes. I asked if they REALLLLY fit with those shoes or if that was just a cute photo. When Surestep said the shoes fit their brand of SMOs, I immediately jumped over to the Ikiki website to purchase because not only were they adorable, but also NO LACES so they were also safe. I ordered Otto Sanchez, all the shoes have cute little names, and both Jack and I immediately fell in love when they arrived. To make any shoes fit with SMOs, you have to take out that bottom padding piece (not sure if it has a name or not, but see photo at bottom if you’re confused). It was the ultimate Cinderella moment as I slipped the shoe over Jack’s SMO. FIT LIKE A GLOVE! Jack extra approves of the Ikiki shoes because they squeak. The squeakers can be turned on and off easily, but Jack finds the “squeak! squeak!” extra motivating! We are currently the proud owners of two pairs of Ikiki shoes, both Otto Sanchez and Sascha the Narwhal. This is not an ad, but a note from a mama who spent so much time looking a shoe that would be transformative for my son with SMOs. These shoes were just that! Ikiki shoes are durable and affordable as well, which is amazing because decent toddler shoes are super pricey usually. I was sure there would be some terrible flaw once they finally came, but there was not. They really work for Jack and my life a whole lot easier! We are pretty sure the Ikiki shoes will make you smile too and I hope our anecdotes can help another kiddo or struggling mama in a similar situation. Please feel free to message me if you have any questions about SMOs or otherwise! You are not alone and your kiddo can still wear cute shoes! 🙂

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. ❤