(WHAS11) - This is a story about the strength of one Kentuckiana family and their search for a medical breakthrough.
Thomas Milburn and Stacy Webb live in Jeffersonville.
Last year their lives were turned upside down when they discovered both of their seemingly healthy sons had a rare, terminal disease.
3-year-old Thomas has a smile that can light up a room, especially when his dad sings a favorite lullaby. But his family isn't sure how much longer this smile will last.
“Just out of nowhere, he stopped walking…went back to crawling. Then he had maybe 50 some odd words he was saying and he just slowly stopped saying them and then it got to the point where he was crawling, his head would just drag on the ground. He couldn't keep his head up,” says Thomas Milburn.
A year ago, little Thomas was diagnosed with Metachromatic Leukodystrophy, commonly known as MLD.
It's a rare genetic disorder that attacks the brain and central nervous system. Roughly one in 40,000 have this disease, which is caused when both parents carry a defective gene.
“His body's not able to break down the toxins in the blood so they store in the brain and I guess the more toxins store in his brain, the more it affects different areas,” says Thomas.
It causes patients to lose control of their muscles and regress to an infantile state. Most children don't live many years after symptoms appear.
But there are mixed emotions for the family. Thomas' early diagnosis helped his baby brother, Lucas, get treatment for the same disease.
“Diagnosis in one sibling led to an early diagnosis in the younger child, which is really important when you're dealing with these inherited diseases,” says Dr. Vinod Prasad of Duke University.
“Thomas was diagnosed after symptoms appeared, so he wasn't a candidate for transplant. Lucas was pre-symptomatic,” says the boys’ mother Stacey Webb.
Nearly 600 miles away, 17-month-old Lucas got an umbilical cord blood transplant at Duke Hospital last May.
There's a narrow window of time when a child with MLD is eligible for a transplant, before any symptoms appear.
So what is the goal of the transplant?
“Change a lot of the cells within the patient’s body by replacing the patient’s own bone marrow cells with an unrelated umbilical cord blood taken from public banks,” says Dr. Prasad.
Lucas and his mother spent much of the past year in Durham, North Carolina. Stacey lost her job, and is anxious about their medical bills but is more concerned about being separated from Thomas.
“The hardest part is you know, me being 600 miles away from Thomas while you know, he's at home. The MLD is progressing in him and you know, I'm missing out on precious time with him,” says Stacey.
But the family is doing what's necessary to care for their sons. Daily phone calls keep them connected.
Just Tuesday, WHAS11 News received some heart-breaking news. Little Lucas unexpectedly passed away in his Duke Hospital room from complications related to his transplant.
His mother, father and big brother were with him. The family asked that we air their story as planned to honor the boys and the family's on-going efforts to bring attention to this rare disease.
“I discovered I'm a lot stronger than I ever thought I could be, but when you're put in a situation like this, you just keep going and do what you have to,” says Stacey.
“I just want to get awareness of their condition out there. You know, and raise money for research & maybe one day we can get a cure,” she says.
While Lucas' umbilical cord blood transplant was not a success, Stacey says she has no regrets about getting the procedure.
She says it was Lucas' only hope and there are other children who have had the transplant and are seeing differences in their condition.
Meanwhile, the family has exhausted their financial resources, and needs help with a memorial service for Lucas.
Friends have set up a fund in memory of Lucas Webb at local PNC banks.
They're also hosting an all-day benefit at the Texas Roadhouse in Shively on March 9th.
