The “Resilient” design is inspired by Go Shout Love’s featured child for November 2022: Thatcher, a vibrant 6-year old from Redmond, Oregon who loves watching cars and trucks go by.
Every purchase in November will go toward the purchase of an adaptive stroller and ramp for the front door of Thatcher’s home.
On September 4th, 2016, Nicole and Nicolas welcomed their second baby boy, Thatcher, into the world. He was born at 39 weeks via c-section, weighing 8 lbs 1 oz and seemed like a healthy baby. However, once the family returned home, they soon saw signs that something wasn’t right. Thatcher was fussy, his limbs were stiff and he was having difficulty breastfeeding.
Despite their concerns, Nicole and Nicolas were told over and over again that their son was healthy, aside from having reflux. Reflecting back, Nicole shares,
“I knew in my heart that something was not quite right and I took him to the pediatrician multiple times sharing my concerns, and every time, the pediatrician would send me home with my ‘healthy baby.’ It wasn’t until he was four months old and started missing milestones that I switched to a new pediatrician, and she agreed that Thatcher should see a neurologist. At six months of age, Thatcher was formally diagnosed with global developmental delay and Cerebral Palsy, although we still weren’t sure exactly what type he had.”
By the time Thatcher turned one, he began having seizures and was diagnosed with Epilepsy. The family sought medication which seemed to have controlled Thatcher’s seizures until he turned two; not only did the seizures return, but Thatcher began having multiple seizure types that became difficult to control.
With the gut feeling that something more was happening with Thatcher, the couple requested whole genome sequencing where they looked at all of his genes to determine if Thatcher had a genetic disorder. But once again, the couple came to a dead end after the testing failed to yield answers. In fact, it would be another two-and-a-half years until the couple received an explanation for Thatcher’s symptoms.
In the meantime, Thatcher was diagnosed with autism, but with a ‘different flavor’ of autism than most.
“While Thatcher met the criteria, he also has many strengths that are not common in kids with autism, so we never quite felt like that diagnosis was accurate for him,” Nicole explains.
A couple years went by and Thatcher’s seizures started taking a toll. He was having 50-100 per day. After exhausting all medication options, the family decided to try the ketogenic diet through a g-tube. After surgery, Thatcher’s seizures miraculously stopped for a total of ten weeks before they sadly returned.
While trying to manage Thatcher’s seizures and g-tube life, the couple learned that Thatcher has a hip deformity in both hips as well as shortened femur bones caused by a condition called Coxa-Vara.
“It seemed like every six months, we were getting all these new diagnoses, but it was the skeletal abnormalities that really kicked it off in my brain. Shortly later, I found out that I am a carrier for a rare condition called Rhizomelic Chondrodysplasia Punctata (RCDP). Instantly, I knew this was what Thatcher had. All of the symptoms matched – cataracts, Coxa-Vara, shortened femurs, epilepsy, intellectual disability – and he shares the same facial features of other Rhizo kids,” Nicole shares.
With all of this information, Nicole and Nicolas returned to the geneticist and asked if the PEX7 gene was looked at during the whole exome sequencing that was performed three years prior. To everyone’s surprise, this particular gene was not looked at–”a technical error”. Testing was done once again and the results confirmed Nicole’s suspicions.
“Our family has had quite the long road in finding a true diagnosis for our warrior boy. We found out that not only does Thatcher have RCDP, but he has the non-classic form. Thatcher is the sixteenth person in the world to receive this diagnosis. He is truly a rare gem!” Nicole shares.
After receiving the diagnosis, the family made a trip from their home in Oregon to a children’s hospital in Delaware to meet with the only team of specialists for RCDP in the U.S..
“While the flight across the country was incredibly difficult, I will never forget walking into that hospital and seeing other kiddos using wheelchairs. Thatcher is nonverbal, so it’s hard to know what he’s thinking, but on his face, you could tell how happy he was to see kids like him.”
As Nicole put it, to finally have a team and validation after all those years of searching felt incredible.
“We’ve been through the ringer with Thatcher. I really had to learn how to advocate and how to do what is best for him. I never knew I had the capacity to do all the things I did, but when you’re put in a situation where you’re fighting for answers, you have no choice,” Nicole shares, “I was one to trust the doctors and everytime they would throw these diagnoses at us, it became difficult because the diagnoses never seemed right. I never stopped fighting until we did get a diagnosis that made sense. There are a lot of good things about that and a lot of hard things too given what RCDP is.”
Today, Thatcher is an incredibly happy and playful six-year-old little boy. He scoots and crawls around on the floor and loves playing with his older brother. After recovering from a major hip surgery in February 2022, Thatcher began taking steps in June of 2022! He needs constant supervision when walking, due to his poor balance and coordination and frequent seizure activity, which leads him to fall often. Outside of the home, he uses a wheelchair to get around. He loves playing with balls, trucks and all things musical. His favorite thing to do is sit in his stroller outside and watch fast cars pass by! He is nonverbal and uses some gestures to communicate. Developmentally, he is around the age of a 9-12 month old. More recently, Thatcher was ecstatic to start kindergarten this year. He has a beautiful smile and laugh. Even within five minutes of meeting the Miranda family, you can tell how thankful they are for each other. As Nicole dotingly put it, “To know Thatcher is to love him!”
Time to get loud shouters!
Throughout the month of November we will be shouting loud for Thatcher!
So click here to shop now where every purchase in November will go toward the purchase of an adaptive stroller and ramp for the front door of Thatcher’s home.
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