Proposal for 'Bubble Boy' disease screenings on governor's desk

Mar 23, 2012

A state budget item that would allow newborns to get screened for a certain disease is now in Governor Rick Scott’s hands. As Sascha Cordner reports, if Scott does not veto the Health Care Budget item, proponents say it would give babies born without a normal immune system a chance at a normal life.

Twenty-two-month-old Kye Johnson is playing with his mother, Alethea Arthur. He’s your typical infant, getting into things, and playing with toys and a bag of crayons.

“Whoa! Are you okay? [baby laughter] [Hearing a rooster crowing] [Mother Alethea  laughing]”

But, there’s one thing that separates him from your average healthy baby:

“He was born without a working immune system.”

At birth, Kye was born with “Bubble Boy” disease, due to a genetic defect. It’s actual name is Severe Combined Immunodeficiency Disease, or SCID.

Arthur says when her son was only a year-old, he was finally diagnosed with the disease.  But, because she didn’t know about it before that, he was exposed to a lot of infections that were killing him.

“Really, it’s just their inability to not fight off infection. And, a lot of doctors shove it off to something else. Before Kye was diagnosed, we were going to the ER every other month, and they kept saying it was pneumonia, bronchitis, a cold, allergies.”

Kye is currently in All Children’s Hospital in St. Petersburg, where he’s been for about ten months, seven of those months in isolation. If he had been diagnosed within the first three months of his birth, he would have had a better chance of getting treated. But, not being disgnosed for many months after that lowered his chances of survival.

Doctor John Sleasman, one of Kye’s doctors, says it’s normal for doctors not to be able to diagnose the disease right away, leading many kids to die at a young age:

"Universally, all these children die, usually before the age of 2, if they’re not treated with a stem cell, or what we call bone marrow transplant.”

Kye already underwent a bone marrow transplant in January, but Sleasman says because the disease was not caught early enough, Kye may need to undergo another bone marrow transplant, and his condition is tenuous.

Sleasman says to avoid a misdiagnosis, it would be to every newborn’s benefit to get screened for SCID, in addition to 30 other tests babies get at birth.

“The test that’s done is a simple and inexpensive test, and it can be done on a single drop of blood.”

He says not doing the screening costs the state millions of dollars to treat a child who may still end up dying. In Kye’s case, the cost for his care so far is 3-million dollars, and Medicaid foots the bill.

“And, so to spend that amount of money and still have the heartbreak for the family, of potentially losing a child is something that, to me, is unacceptable.”

Republican Representative Matt Hudson is the man responsible for putting the newborn screening of SCID in the Health Care Budget, which is now in the Governor’s hands.

Legislation for the actual screening hadn’t gone anywhere early in the session. So, as the Florida House Health Care budget writer, Hudson put it in the budget. Hudson says it’s important because it saves lives:

“So, with proper diagnosis, and knowing upfront, a child can go through a bone marrow transplant at a far lesser cost of about 80 to 100-thousand dollars and ultimately survive, which is the most important thing. Forget any money, the child’s survival is maintained, and the welfare of that family is maintained.”

Hudson says this was also one of his priorities because of one individual who had the courage to tell him and others her story:

“This is a woman who lost a child to SCID, but then has advocated for early-screen detection. And, has had another child that was diagnosed with SCID, but was treated successfully. And, so she is the case study of what can go horribly wrong in a parent’s life in losing a child, only to turn around and have another child live successfully.”

Hudson is referring to Heather Smith, the mother of a healthy 16-year-old son, who is living a full life with SCID. Her firstborn son, Brandon, died with SCID, three months after birth, because he was diagnosed too late.

So, when Smith became pregnant with her second born son, she made sure the screening was done while he was still in the womb, and found out he had the disease. Smith’s son then became the first baby in the world to undergo a bone marrow transplant while still in the womb, an operation that saved his life.

Now, she and her husband are the founders of SCID Angels for Life, who try to bring awareness about the disease, and provide support for families, like Alethea Arthur and her son, Kye.

“Our foundation has been trying to offer support to her family by giving them gift cards and helping with gas and food, and that kind of thing, and just the emotional support of trying to be there for her when she’s going through all this.”

Arthur says she’s hopeful her son can be released from the hospital soon, and she knows she has a tough journey ahead of her. At Kye’s release, she’ll have to find a new home for him without carpet and he won’t be able to eat foods, like fruits and vegetables, for awhile.

Arthur says it would mean a lot if Governor Rick Scott does not veto the budget item:

“Just knowing that somebody else’s child didn’t have to go through this, another mother or father having to see their son in the hospital every day. It would mean the world.”

Governor Scott vetoed a similar measure least year, but Representative Hudson says he’s been in talks with the Governor’s office and there has been every indication that Scott won’t do that this year because he is more well-informed about the issue.