AKRON, Ohio (WJW) — Not yet two months old, Christopher Miller is already battling for his life.
“You expect a baby, you are excited you are happy,” said Christopher’s mother, Andrenia. “When he was born that was a beautiful moment. I noticed he wasn’t eating but I also thought he’s going to learn.”
“Basically when he was first born, the nurses had mentioned that his tone was low. You could kind of see sometimes that his legs, his neck and his arms, for lack of a better word, were kind of floppy and he wasn’t taking to the bottle very well,” said Christopher’s father, Mike.
Newborn screening, which just became available in Ohio last October, revealed Christopher has a genetic disorder called Zellweger’s Syndrome.
“Zellweger does occur on a spectrum, there are severe intermediate and mild forms, in Christopher’s case he does appear to be more on the severe end, and this is because his symptoms are more noticeable at birth,” said Akron Children Hospital Nurse Practitioner Jennifer Stefanich, who started seeing Christopher soon after he was born.
“His body doesn’t break down long chain fatty acids so within time, because it can’t break it down. It does attack his brain, his liver his respiratory function, they do become blind often and they do become deaf.” said Christopher’s dad.
“Severely affected infants often have distinct cranial facial features. They have neurological deficits, progressive dysfunction of the liver and kidneys, and sadly they often develop life-threatening complications during their first year of life,” said Stefanich.
Zellweger’s happens when both the mother and the father have a specific genetic mutation.
Even then it is seen very rarely in their children.
“In the United States we see one in 50,000 to one in 75,000 people be affected with this,” said Stefanich.
Stefanich believes the newborn screening, which was not even available this time last year, will help identify additional cases that may not have been recognized as early.
As of now, there is no known cure. There are treatments that can help manage the symptoms but Christopher’s parents say just one of the medications from which he might benefit is $300 per pill and he would have to take one every day.
Mike Miller says so far his insurance has not agreed to cover the medication.
The family has been in touch with Dr. Troy Lund, an associate professor in the Department of Pediatrics at the University of Minnesota Medical School.
There they hope to be able to access a trial program which is one of the few that can help give them hope.
“Dr. Lund is very optimistic from the standpoint that because Christopher is not on any kind of oxygen and he is at home,” said Mike Miller.
“If Dr. Lund decides to move forward and we decide as a family it is the best thing to do, it will be the first time that a bone marrow transplant has been done on somebody with Zellweger,” he added.
Christopher’s aunt, Jenny Winot, started a GoFundMe page to help offset their medical costs, transportation and then to potentially help others who are struggling with the rare disorder.
“These children have six months to a year and if they are going to get treatment or they are going to be on these medications to potentially help them…they need them now,” said Winot.
“You cannot see a future with the baby, but you don’t see a future without a baby once he’s born, once he is in your arms right? We don’t know we don’t know anything about his future, it’s a roller coaster,” said Andrenia Miller.
“Zellweger’s Syndrome is managed by a team of specialists but the parents are the ones who are the glue holding this together and Christopher’s parents are an excellent example of working together and quickly becoming experts in the subject matter to really get treatment for their son very early,” said Stefanich.
If you’re interested in helping here’s the link to Christopher’s Go Fund Me page.