Facing rare disease diagnosis, Snoqualmie family works to make ‘dreams come true’ for son and others

Snoqualmie resident Krista Roberts says son Riley graced her and husband Chris’s life just over three years ago – a squishy baby boy with a good set of lungs and a healthy appetite. But she said by the time Riley was five months old it was clear he wasn’t hitting developmental milestones.

At six months old Riley went to the neurologist, something Krista describes as the scariest doctor appointment they’d ever faced. As it turns out, that first appointment was just the starting point for many more.

Almost three years after that first neurologist appointment the Roberts still don’t have an exact diagnosis for Riley. Each newly acquired symptom has led doctors to believe Riley has a very rare disease.

At six months it was extreme hypotonia (weak muscles), which led to a muscle biopsy. At ten months it was seizures in the form of infantile spasms, which led to steroid injections to halt them. The injections made Riley cranky and puffy and he lost the ability to swallow. So he began new medication. This was followed by Riley’s first major hospital stay to treat pneumonia.

In October 2014 Riley had a feeding tube placed because he still wasn’t swallowing normally. He’s been getting food and medication this way for two years now.

But the seizures got worse – to the point where he would stop breathing for multiple minutes during episodes and required intervention, which also caused high anxiety for mom and dad.  The seizures eventually got out of control, which led to another hospital stay  -his time in the Pediatric ICU.

Riley is now on a ketogenic diet, which Krista says has virtually turned the seizure activity around. But new symptoms soon began, which led to a restrictive lung disease diagnosis. Riley’s weak muscles weren’t just impacting his outer extremities, but also his organs.

After spending almost all of this past spring in the ICU – and having more tests and gut wrenching conversations no parent even wants to think about – it was determined that Riley has a progressive neurodegenerative disease.

The disease is rare enough that top doctors in the world can’t say, “He has this.” Krista explained that Riley is loosing brain cells, and that someday he won’t be able to tell his organs to function properly and his personality – what makes Riley Riley – may disappear.

Krista and Chris  say they know reality – that someday they will loose their adorable, goofy little boy. Krista said it’s all been a bit hard to swallow and accept… living their lives with the little information they have about Riley’s condition and the extreme unknowns that come with it.  But she said they try and live their lives day to day and give Riley, who cannot do anything on his own, the best life possible for as long as he may have it.

It’s one of the reasons the Riley’s are committed to the Make a Wish Foundation. Krista says the foundation has become near and dear to their hearts – not only because of what Riley is living with, but for everything they do to make kids like Riley happy.

This fall Riley will be getting “a wish” from the foundation. To honor that the Roberts have been fundraising for the Make a Wish Foundation in his name. In fact, this past weekend they participated in a fundraiser walk – the Walk for Wishes 5K. Krista explained, “Every kid like Riley deserves amazing experiences and all the joys of the world, and we are so excited to help make dreams come true.”

The Roberts came so close to reaching their $5,000 goal before last Saturday’s Walk for Wishes – coming in just over $4,500 – but the Make a Wish Foundation said it is leaving the online donation buttons open for a few more weeks. So if you’d like to donate in Riley’s name, you can see his story and fundraising page HERE.

Thank you to Chris and Krista for sharing Riley’s story with me. I hope your goofy, adorable boy’s wish is an amazing experience for him and the entire family.

If you want to read more about Riley you can visit his blog HERE.