Shortly after submitting her 2016 Flintstone Challenge Race registration form, Bridget informed us that on May 1, she will be running for 4-year-old AJ, whose baby brother, Teddy, has a rare genetic disorder. As a member of an organization known as, I Run4 Siblings: The Unsung Heroes, Bridget dedicates every mile that she runs to AJ, who she explains, “bravely steps into the role of a caretaker, protector, helper, advocate, and so much more” for Teddy. Inspired by the uniquely intimate relationships that have been fostered by Irun4, we reached out to Teddy and AJ’s mother, Kerry.
What is Teddy's diagnosis? And what would you like for the medical community as well as the general public to be aware of in terms of supporting other kids and families facing this diagnosis?
Kerry: Teddy's diagnosis is Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1), which is a type of Congenital Disorder of Glycoslyation (CDG) that affects the PIGN gene. Essentially, the mutations of Teddy's PIGN gene affect his body's ability to send messages and connect information because the pathways and processes don't function typically. When Teddy was diagnosed in November 2015 at the age of 28 months, we were told by our genetics team that Teddy was the 15th person in the entire world with this diagnosis. So although we finally had a name to explain Teddy's seizures, hypotonia and global developmental delays, we didn't have much information because the disorder was discovered in 2011, and the only information available was only a handful of rather depressing medical research papers. We recognize the value of the case studies, but we firmly believe each child with MCAHSS1 will write his or her own story. Each, including Teddy, has the potential to reach milestones not previously documented. We would like the medical community to become more aware of CDGs and their increasing prevalence in the population as advances in testing make diagnoses more feasible. Teddy's diagnosis came as a result of exome sequencing after nearly 2 years of searching for answers, and our understanding is that is the only way someone would be able to diagnosis this syndrome currently. We are extremely interested in furthering the research of CDGs, in particular MCAHSS1. For the general public, we appreciate the kindness of others who make our day much brighter through a single interaction. We all have the ability to impact people's lives every day, and sometimes it's the things we view as little that make all the difference. The boy who patiently played a video game with AJ in the waiting room for one of Teddy's appointments is the perfect example. He shared the game he was playing, he explained and coached AJ on how to play and he made AJ's day. That young man was was my hero that day.
What would AJ describe as the 3 best aspects of being Teddy's brother?
Kerry: This is a bit tricky because AJ's 4 years old, so this is a combination of his answers and our observations: 1) Teddy's laughter and smiles. It's fun to make Teddy laugh. 2) I like teaching Teddy how to do things. (AJ can be extremely patient when showing Teddy how to do things, and he gets so excited for Teddy's accomplishments.) 3) I like playing with Teddy. We have fun together.
Also, in AJ's opinion, what are the 3 hardest parts of being Teddy's brother?
Kerry: Again, it's a bit hard to get AJ to answer this. When I first asked him, his answer was everything. Although he doesn't necessarily put it into words, it is hard to always have to have Teddy's needs come first. He can't play with small legos when Teddy's awake, for example, because Teddy will put them in his mouth. I understand other children with younger siblings struggle with that, but typical children move past the phase much quicker than the 2+ years AJ's dealt with it. 1) When Teddy bites me. Or when he wrestles me and sits on me. (Even though the boys are two years apart, they're about the same size. Teddy loves to climb and wrestle and will knock AJ over wanting to play.) 2) Not being able to have alone time. (Teddy's favorite toy in the whole wide world is AJ. He wants to be wherever AJ is and touching whatever AJ is touching.) 3) I don't like when we go to the far away doctor appointments or the ones without toys. (We sometimes drive to Milwaukee, which is 1 to 1.5hours depending on traffic and where we're going. Also, some doctor offices have toys to occupy the boys, and some have nothing at all.)
As their mom, how do you navigate Teddy's health for AJ?
Kerry: We've tried explaining to AJ that it takes Teddy longer to learn to do things. AJ is still young enough that he simply accepts Teddy for who he is and sometimes believes Teddy cannot do certain things because Teddy is a baby. He's starting to realize that "baby" doesn't really apply to Teddy any more, so I think he will struggle more with this in the years to come. AJ comes along to nearly all Teddy's appointments and sometimes is a tremendous help in getting Teddy to work on his therapy goals at appointments. He's usually a good sport and accepts that this is just what we do and how life is. We try to balance the focus on Teddy by doing AJ's favorite activities with him while Teddy naps or having special dates with just AJ to give him some undivided attention.
How has Irun4 impacted your lives?
Kerry: We started a blog about Teddy's journey, and I actually did a blog post about it this week that is my long version answer: http://teddystriumphs.blogspot.com/2016/04/i-run-4.html