The loss of their 2-year-old son Joshua in 2008 led former Southington parents Elizabeth and Lee Florian to ask why. Joshua died suddenly after a fever June 26, 2008 from undiagnosed Addison’s disease.
The family’s search for answers led them to a doctor who was able to determine that Joshua’s Addison’s disease came from a rare non-inherited type of Adrenoleukod-ystrophy (ALD), a neuro-degenerative disease that frequently affects boys.
Early diagnosis of ALD could have prevented Joshua’s death and given his parents the knowledge needed to get Joshua the right treatment and give him a chance to live a perfectly normal life.
The disease involves an abnormal accumulation of long-chain fatty acids in body fluids and tissues throughout the body due to incomplete degradation of fatty acids found in blood plasma. The fatty acids build up in the brain, and the adrenal glands causing a breakdown of the myelin sheath surrounding the nerve cells of the brain.
Myelin is essential to proper functioning of the nervous system – without that sheath the neurons don’t do their job of telling muscles and other elements of the central nervous system what to do.
The disease is a genetic disorder that doesn’t discriminate race, geography or ethnicity. The disease presents as normal healthy boys begin to regress and can show behavioral problems, difficulty with focus and as time goes on, symptoms continue to worsen with cumulative physical disabilities.
Joshua’s unexplainable death caused much pain for the family. The only indication that something was wrong was Joshua’s suntan skin and his prolonged cold symptoms compared to his three siblings who were over their colds. Their doctor referred them to an endocrinologist to investigate the skin problem, but Joshua died before he could make it to his appointment.
The nightmare experience of losing Joshua in the presence of his three siblings affected the family.
“Having our private story told in public is difficult. But we are openly willing to do it, if it will save children and save another familes from this grief,” said Lee.
The Florian’s pursued the cause of death until they had an answer. They learned that ALD is not included in the group of diseases newborns are screened for in Connecticut.
“Each state decides which diseases to screen for. Some states tests for some forty different diseases, some as little as twenty,” said Elizabeth.
When they got a call last month from the doctor who discovered Joshua’s ALD asking them to testify to Connecticut legislators that was the moment they learned a newborn screen test was available. If diagnosed early, boys with ALD have a good chance at a normal life.
The Florian’s sought to advocate for the passing of Senate Bill 465, which was introduced by Sen. Len Fasano, R-North Haven, at a public hearing before the Public Health Committee Feb. 27. The bill would allow for newborn screening of ALD.
“It’s a matter of living a normal life if screened early. A special diet eliminates fats and can reverse damage when early detection is made,” said Eliza. “By participating in this bill, we are seeing some good come from this. The bill helps us tell Joshua’s story and that is a healing process.”
The Public Health Committee also had a joint favorable vote of this bill and local State Representative David Zoni (D) served as co-sponsor of the legislation, and is supporting it fully.
The SB 465 now is filed with the Legislative Commissioners’ Office where it will undergo review. Additionally, feasibility will be determined before going to the Senate for a final vote.
In the meantime the Florian’s want to get the word out about ALD and the importance of early newborn screening.
“This is not just a Connecticut issue. ALD is something that can be treated and should be,” said Eliza.
To monitor the progress of the Senate Bill 465 or to contact your legislators to express your opinion, go to: http://www.cga.ct.gov/ or visit the Facebook page Elizabeth and Lee Florian established in Joshua’s honor and to bring awareness of this issue: https://www.facebook.com/JoshuaJourneyALD.