This sweetie is my son Derek. Three months ago we took him in for an eyeglass appointment, only to discover a symptom in his eyes that led to dozens of MRIs and labs and tests that ultimately revealed cancer and a VERY rare genetic disease that is often fatal.
Derek's mutation is one of only 25 people in the world, and Derek's specific version is the only one in the world. This means that his care is costly, out of state, and very disruptive to our lives.
Almost anyone who meets Derek will say "His joy is contagious." Whether he is playing super heroes or helping with groceries, he tends to light up the room. Derek likes Legos, "being part of the action", and knock knock jokes.
What is next His next step is a bone marrow transplant. Derek will need to live out of state for 3 to 5 months while they do Chemo and Radiation and surgeries. Basically they will break down his body and hope/pray it gets built back up the right way.
After Derek comes home, there are steps that we need to take with the house since he will be immunocompromised. This includes professional vent cleaning, hepa filters and more. He will also need follow up therapies and appointments for about a year after the surgery.
About SAMD9L and MDS Cancer SAMD9L is a gene that is meant to "suppress Tumors" but in Derek's case it is causing absolute havoc in his body, everything from Cancer to bone marrow problems to problems with the Myelin sheath on his nerve cells, to balance issues and more. SAMD9L is a particularly tricky gene to treat causing his body to become devastatingly efficient at suppressing cell development. His body tried to "fight back" but in the course of doing so, he developed MDS Cancer, and now there are two problems instead of one.
About our family.
Our family is not used to asking for help. We have three children. Derek's older sister is 10. Derek's younger Brother will turn 3 soon. I work as a therapist. I have no idea how to pay for the medical care , never mind all the trips, lost income from time away from work, medicine, and everything else.