My sweet Everett – the reason my family created a rare disease foundation

August 3, 2020

Everett is a happy child, always finding ways to have fun. He has a whole lot of energy and is always bouncing about. Most of the time, he has a wonderfully upbeat temperament, except when he doesn’t get his favorite goldfish snack. Now that makes him really mad and you will likely find him walking around stomping his foot! 

My husband and I feel grateful when he squeals with delight as he watches or reads about the antics of his favorite character, Buzz Lightyear, from Toy Story. Just a few years back, we were doubtful if he would be able to grasp the storyline or humor in such movies and books! 

Everett met his developmental milestones until he was about 9 months old, when he inexplicably started falling behind. By the time he turned 1, he could not sit or stand by himself and his eyes would not stay focused. These subtle signs of developmental delay caught my attention only because of my training as a pediatrician. 

Since there was no progress, we consulted with a developmental pediatrician when he was 15 months old. That physician recommended several genetic tests. Despite being a physician myself, it took us a while to navigate the complex and frustrating landscape of medical insurance. 

Finally, after several rounds of testing, at two-and-a-half years, Everett was diagnosed with MECP2 Duplication Syndrome (MDS), a rare neurogenetic disorder. We were devastated – our doctor had just seen one patient previously with this disorder and all we had to get started was a packet with some basic information. Whatever little information we found in the medical literature was real scary and dire. Suddenly, Everett’s future seemed rather bleak and this took a huge emotional toll on us. Like all parents, we always fantasized about who our baby would grow to be, perhaps a doctor like me or an educator like his dad or a lawyer like his aunt. And here we were, being presented with a diagnosis with such poor outcomes and having to accept that none of what we had previously envisioned for Everett might be within reach. 

Over time, we began to accept the situation and count our blessings. After all, we were lucky that Everett was on the milder end of the MDS spectrum and did not have many of the accompanying health complications common in this syndrome. Ironically, however, because of that, it also took us a lot of effort to make sure he received the appropriate state-sponsored interventional services. He was initially denied access to early-intervention services, even though compared to his peers in the special-needs pre-school, he is among the most affected. That is when it hit us that as parents of a special-needs child, we have to constantly educate, inform, create awareness and advocate for our child. 

Around this time, after furiously scouring medical databases, I found Texas Children’s Hospital and the Jan and Dan Duncan Neurological Research Institute in Houston. The Duncan NRI is the hub for this syndrome – everything from the initial discovery of MECP2 gene to exciting new research discoveries were done in the laboratory of the neuroscientist Dr. Huda Zoghbi, and the hospital also had a clinic dedicated to MDS. Although we live in Arizona, we decided to take Everett to Texas Children’s for a consultation with Dr. Bernhard Suter, a neurologist who specializes in caring for children with this syndrome.   

From the first day, everyone at Texas Children’s has been exceedingly helpful. For instance, on our very first appointment, Dr. Suter introduced us to Dr. Zoghbi, who despite being very busy, took the time to meet us and even stayed back to play baby shark with Everett for almost half an hour! It was an amazing experience for us to learn all we could about this syndrome from a neuroscientist who pioneered work in this field. Seeing her passion and commitment for finding a treatment for MDS lifted our spirits immediately and gave us hope. We did not feel alone anymore – we knew we had powerful allies in our struggle.  

Over time, we have been able to get Everett the therapies and services he needs. Right now, he is in an inclusive special-needs preschool, in a community where we feel well-supported. Overall, he is in good health and loves his gymnastics and swimming lessons.  

But, we have never forgotten the terror and alienation we felt when we first got the diagnosis. When we were at our lowest moment, my family came up with an idea to create a nonprofit foundation with the mission to build a support network for other MDS families and to find a cure for Everett’s condition. 

When we shared our vision with Dr. Suter, he set the ball rolling by connecting us to other interested MECP2 families. We feel so fortunate to have connected to the right people at the right time in this journey. In less than two years, with incredible support from my dad, our foundation – MECP2 Duplication Foundation – has grown steadily, and now we have built an active and supportive community on Facebook. Some days the only people who can truly fathom what we are going through and find ways to help us deal with our day-to-day issues are other MDS parents. We are always inspired and encouraged to see how MDS families in our community, despite all that they are going through each day, have each other’s backs and find ways to raise funds through annual dinners to support researchers and physicians in their quest to find a cure for MDS. 

Post by:

Dr. Amelia Decker