Hope for Everett

This is Everett.

 

Those that know him know that he is the most loving, happy, and fun going 2 year old there is. He shows more affection to his big sisters, his little brother, his dog, and his grandparents more than I would have ever imagined. For those who don’t know Everett, this is his story.

 

Everett was a perfectly healthy baby and he continued to grow and develop as normal as most kids do; with the exception being slightly delayed in walking and talking. There was a period between 16-20 months of age where he started walking but never got “good” at it. In March, we took a staycation with the family and suddenly Everett was unable to continue walking, much less even support himself in the crawling position. That’s when seeing the specialists began.

 

We started seeing a Neurologist, of whom left no stone unturned. He had an MRI of the brain and spine. He had bloodwork and urinalysis. He saw an ortho and cardio specialist to check those boxes. We even had a couple rounds of genetic testing for some neuro and muscular panels of which everything was coming back as normal; or as a variant of unknown significance (meaning it’s not known yet of what the significance is or if it has any harmful effects). We learned that’s pretty common in the ever-so-advancing genetic world. Our Neurologist refused to give up and sent us to a Geneticist to do a deep dive into this genetic puzzle and we sent off more testing for a full exome/genome sequencing. That’s where the life altering news began.

 

The Tuesday before Thanksgiving the genetic results came back. Everett was diagnosed with Metachromatic Leukodystrophy, MLD for short. It is a very rare and very serious progressive degenerative disease. (I’ll save some additional heartache by not going in to the details of what the disease actually does to the body. Feel free to look it up more if you so choose.) The fast track to seeking additional specialist and treatment options began. We immediately contacted several locations across the United States who specialize in rare diseases and ended up traveling to the UPMC Children’s Hospital of Pittsburgh to meet with their group the week of December 13th-17th. After a bunch of additional medical testing and evaluation, we met with the doctor to discuss the treatment options. With no cure that exists, our only treatment option is a bone marrow transplant. The idea behind this is to slow, and/or potentially pause portions of the progressive disease. With so little data available, there is no way to know how fast or slow, or how subtle or severe the disease will progress, with or without treatment. Being parents and being involved in an immediate life changing event, we have decided to proceed with the bone marrow transplant and give our little guy every chance possible and hope for a positive outcome.

 

The process is not easy, nor is it fast. We return to Pittsburgh on January 1st to begin the chemotherapy, transplant, and long road to recovery. We’ll ultimately be in Pittsburgh for 5 months while his body repairs and rebuilds an immune system. He’s not able to leave until they feel it’s safe to travel outside of the hospital setting.  We don’t exactly know what our journey entails. We know it won’t be easy. It will be taxing on our families in every way humanly imaginable. We ask for continued support, hope, and healing.

((A little description with our intentions for using raised funds. Although our family is covered by health insurance, we do not yet know how much our out-of-pocket amount will be or if everything along the way is covered by insurance. Outside of the procedure itself we have temporary living expenses, travel back and forth from Pittsburgh, food, and so forth.  While we'd love to have the treatment and say it's over, the facts are Everett will have continued follow up and additional needs the remainder of his life. This could include additional trips to Pittsburgh for follow ups, special stroller / wheelchair, modifications to living quarters, leg braces, medication and feeding tubes, the list goes on and on. Above the Bone Marrow Transplant itself, the funds would go towards Everett's continued medical expenses. Beyond that, if we are so fortunate and if there comes a time when the funds are no longer needed for Everett, we would donate anything additional to an MLD charity or directly to another family going through the same events that we are.))

 

God bless.

 

Ryan