JACKSONVILLE, Fla. – Rare Disease Day is on Sunday to raise awareness about rare illnesses and the impact they have on millions of people around the world and in Florida.
4-year-old Elijah Williams lives in Jacksonville with Shwachman-Diamond Syndrome or SDS.
“He was genetically confirmed at around 15 months,” said his dad, William Williams.
SDS is a rare genetic disorder. Williams said it weakens Elijah’s immune system and makes it hard for him to absorb or digest food. He takes a pill with his meals every day.
“We’re lucky if he has one solid like chicken nuggets,” explained Williams. “We’re lucky if he eats that once a day with his protein drinks. He eats 90 percent protein drinks because he just doesn’t want food. You could offer him cake and we’re blessed if he eats it.”
As Elijah gets older, Williams said there is a chance he could need a bone marrow transplant.
“You can’t say it’s likely that he will need one but it’s certainly possible,” said Williams. “No one can give us the statistics on it because the statistics are worthless when it comes to this small of a population.”
That’s why the family said they are being proactive as they try to expand their family through IVF.
“It’s possible through IVF to look for a bone marrow match within those fertilized eggs and say ‘okay, this is a match,” explained Williams.
But after starting the process, the family hit a roadblock.
“Initially, we were told by the fertilization firm and the insurance company that ‘oh we’re going to cover this much of it’ and we found out recently after we’ve already started the process that insurance isn’t covering any of it and it’s going to exceed $20,000,” said Williams.
To help, the Williams set up a GoFundMe page.
“It’s to help him have a sibling, which we want another child anyway, so to have a sibling that is not only a brother or sister but is also a bone marrow match for him so if he ever needs it he can get it,” said Williams.
Due to SDS, Williams said Elijah gets a full panel of blood work done every two months and a bone marrow biopsy once a year.