20 FLORIDA STATE UNIVERSITY / COLLEGE OF MEDICINE
The Beachams went public with their story a little over a year ago, hoping to spare other families from what they have endured. They were one of the families at Rare Disease Day, hosted Feb. 27 by the Florida Institute for Pediatric Rare Diseases at the FSU College of Medicine.
Michael and Mattie, now 3, were taking a break from the proceedings inside the Durell Peaden Auditorium when Mattie quickly began charming staff and students wandering through the atrium. She invited new friends to sit and bounce a rubber ball with her, saying,“ get down,” then dropping to the floor and giggling every time the ball hit the floor and bounced higher.
As Mattie played nearby, Michael explained what transpired over the first few days of her life.
“ They tested her blood for total bilirubin when she was born, and the results that were added to her file when she was four days old showed bilirubin levels far higher than normal,” he said.
“ We’ ll get it passed next year,” he said. The Legislature adjourned with no House action on the bill, rendering it dead for this year.
IPRD has been instrumental in helping legislators expand rare disease testing for all newborns in Florida. Although biliary atresia is not inherited and the cause has not been determined, research has suggested a gene mutation after conception might be responsible.
Mattie has more surgeries ahead, including one to fully enclose her new liver within her body. She’ s immuno-compromised, and more susceptible to serious illness and disease. She can’ t grow enamel on her teeth, so they’ ll need to be capped. Serious challenges aside, her parents have faith Mattie will continue to defy the odds.
“ The day of the transplant, they said she had maybe 36 hours to live without it,” mom Allison said.“ She’ s definitely our Miracle Mattie.”
Bilirubin, the yellow pigment in bile that is a waste product from broken-down red blood cells, normally exits the liver through the bile ducts into the intestines for elimination in the stool. Excessive levels indicate liver problems.
The family is working with state legislators and federal lawmakers to push legislation requiring more specific bilirubin testing for all newborns. Dubbed“ Mattie’ s Law,” the bill before the Florida Legislature this year would have required both a total, or universal, bilirubin test – which is what Mattie had – and a direct bilirubin test. Total is used for screening, while direct is specialized for identifying bile duct obstructions or specific liver disease, according to the Cleveland Clinic. An estimated 1 in 12,000 children are born each year in the United States with the condition.
“ The Florida Senate passed Mattie’ s Law unanimously,” Michael said,“ but it got held up in the House, not because members don’ t support it. They do, but they’ re not advancing any bills right now.”
If you’ d like to support research that helps children like Mattie Beacham, donate to the Florida Institute for Pediatric Rare Diseases at iprd. med. fsu. edu / donate-2