Parenting Kids With Disabilities - Jamie

When Jamie was born, he was a bit early. About 6 weeks early. However we were very lucky and he didn’t need but a few nights in the hospital before he was ready to come home. He developed just like any kid, well any kid with more energy than I’ve ever seen. He was always on the go. He barely ever sat down and when he did he was talking non stop. Jamie was always into mischief and one of the most verbally and physically active kids I have ever seen. He loved playing with us and his big brother. He loved the outdoors and muddy puddles.

Jamie was fearless and always climbing, jumping, or running at top speed. 

Jamie at 4 climbing the rock and escaping!

Jamie at 4 climbing the rock and escaping!

Things with Jamie were great until around age 3 when we started noticing that he wasn’t really growing out of that clumsy stage that toddlers have where they trip and run into things. We consulted our pediatrician and she referred us for a full work up of physical therapy, occupational therapy, and speech. The evaluations came back with Jamie scoring well above normal in speech and at normal development for occupational therapy, but he was about 4-6 months behind developmental norms for a 3 year old in gross motor skills.  Since he was prone to illness and ear infection, the diagnosis was temporary ataxia. We were assured it was common for kids with lots of ear infections and that it would go away with a few months of physical therapy.

 After 6 months of therapy it became obvious that not only was he not getting better, his coordination was getting worse. He was struggling with fine motor skills now too and he was starting to slur words slightly. They did another evaluation and now he came up at below norms for OT and Speech as well. At this point we were referred to a neurologist and the testing began. 

The neurologist ran a series of tests, MRI, EEG, and everything. Over the course of the next 6 months Jamie’s condition got even worse. So he was diagnosed with progressive cerebellar ataxia NOS. They still couldn’t figure out what kind of ataxia he had and we went through battery after battery of tests trying to figure out what was causing this deterioration. After our neurologist exhausted every possibility he could, he referred us to Stanford Rare Disease and Disorders. 

By this time Jamie was in leg braces and had been qualified for adaptive pre-school and an aide to assist him. He was wobbly, but still full of energy and loved to play. The teachers at his preschool had a standing rule that someone had to be holding Jamie’s hand before they rang the bell to come in or he would take off running and climb into hiding places they couldn’t reach. We continued with PT, OT, and Speech and had an awesome team. 

By now we had convinced ourselves that he was just going to be uncoordinated, but that it was something we could adapt to and overcome. We started him on an IEP and looked at accommodations that would help him remain mainstream at all time. It was working fairly well until the seizures started. My husband left his job to be a stay at home parent and care giver until Jamie was doing well enough to be full time in school.

Back we went to the neurologist and Stanford and at this point Jamie was starting to struggle so much when walking that we transitioned to a walker. He had a one on one aide to help him with all the fine and gross motor tasks and to monitor and provide care when his seizures hit. Stanford was at a loss to explain this ongoing decline so in desperation they decided to ask us to participate in exome genetic testing in which they would sequence Jamie’s entire genetic code and both mine and my husbands in an attempt to identify the disorder. 

Genetic testing takes a while and as we waited, Jamie got worse. He started having serious difficulty talking or moving for more than a few minutes. PT sessions would leave him drained for days. He would struggle to play or run for more than 20 minutes. He was also losing weight because eating was a huge battle and he often gave up and we resorted to shakes. 

Then the testing came back. Jamie was identified as having IRF2BPL related disorder nonsense mutation. I know right??? It sounds made up or like a license plate. Turns out there are fewer than 40 people in the world with IRF2BPL and less than 15 with the nonsense mutation. Of kids with Jamie’s specific nonsense mutation c516 there were a total of 8. There wasn’t a lot of research on this because of how few people there were to study, but they did know that no child with Jamie’s type had survived beyond the age of 12 and most did not survive to 10 years old.  They told us to prepare for Jamie to grow increasingly worse until he was unable to survive.

Of course we were devastated. It seemed insane that 2 years before he was a lively, active, energy filled ball of wild child and now he couldn’t walk more than a few feet in a walker, struggled to play with any toy that needed fine motor skills, and wasn’t eating much at all. The care team recommended implanting a g-tube to supplement his ability to eat. We went ahead with that and switched him to half days at school and modified classroom for parts of the day to decrease demand. My husband continued as his full time care giver so that we could make this work.

Jamie Christmas 2022

Even with all the accommodations, school was rough.His teachers and aide were amazing, but it got harder and harder for him to be at school for even a few hours. We planned a special bucket list trip with all his favorite activities planned. Seeing whales, going on a boat, and pirates. But just then the pandemic hit and due to his fragile state we had to remove him from school and stay home continuously for nearly 18 months. Over the course of the 18 months Jamie’s condition deteriorated. He lost the ability to walk at all, he stopped eating and switched to nearly exclusive g tube feeding. We continued PT,OT, and Speech virtually and we applied for Social Security Disability. 

There was so much paperwork, so many hoops to jump, and so much required. It took another 8 months before we received the news that we were found medically eligible and financially ineligible. Apparently a family of 4 surviving on a teacher’s salary is too wealthy to qualify for benefits. So we applied for and , after 6 months of appeals and filings, we were granted a Katie Beckett waiver to at least provide Jamie with Medicaid to cover the costs of all the treatments and needed equipment.

Jamie today

As of right now, Jamie is enjoying all his favorite movies and shows because he is no longer able to sit, control his limbs, or speak in any way. He can make noises and you get pretty good at translating their meanings. His brother now reads him stories instead of rough housing, and we try to manage his care the best we can with only a 4 hour aide 4 days a week. This does mean sacrificing sleep and never having both parents able to attend any events or activities with our older son. We get one date night a year when my friend who is in med school takes her summer break and stays with us so she can provide care while we go out.

It is very frustrating to deal with Medicaid and the uphill battle you have to fight for everything is insane. I probably spend 8-12 hours a week filling out forms, attending hearings, and getting documentation. It takes around 6-8 months and multiple denials and hearings and providing proof to get every single piece of medical equipment. Seriously I am on month 7 of fighting to get them to cover an adaptive car seat because I have to prove an 8 year old won’t fit in a standard toddle car seat from Walmart and that a child with the head, body,and neck control of a 1 month old needs more support than a booster seat

But every day we keep fighting and every day he keeps laughing. So every day is a win.We did, with the help of my family, manage to take him on a bucket list trip. He got to ride in a boat and see his beloved humpback whales up close. He was so thrilled. He’s no longer physically able to attend school, but his aide put in for retirement to become his care giver for 4 hours 4 days a week. His friends still come by to sit and watch shows with him which is the most he can do at this point. He loves Power Rangers and Scooby Doo and laughs so hard at the physical comedy. He loses ground and deteriorates all the time, but he never loses his laugh or his indomitable spirit

Jamie on his bucket list trip with his whole family

That’s why the world needs people like Charitie Carpenter. Parents of kids with disabilities are overwhelmed, outgunned, and fighting an uphill battle against a system stacked so heavily against us. Having an ally, a support system, and someone who understands is PRICELESS.

Written by Lila Allen

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