Julian Kampfschulte. Photo by Jared Rey for Fotolanthropy
It would make sense if the push to fund newborn screenings for Adrenoleukodystrophy (ALD) at this month’s 86th legislative was overshadowed by more high-profile legislative issues, but it’s the most important thing on one Lake Highlands family’s mind.
Remember Julian? Julian Kampfschulte was the 8-year-old boy who died last October from ALD, an X chromosome-linked disorder that occurs primarily in boys, progressively damages myelin, which protects the nerves of the brain and spinal cord. Victims like Julian gradually lose the capacity to see, hear, eat and walk, and they do not typically live long.
The last year of Julian’s life was a waking nightmare for his family, despite reprieve found in the kindness of neighbors, friends, family and strangers … [more].
There is no cure for the genetically transferred ALD. It can be treated, but only if detected before symptoms appear.
Mandatory testing at birth is the most sensible way to prevent its fatal progression, most experts agree.
The Secretary of the Department of Health and Human Services in February 2016 approved the addition of ALD to the list of genetic diseases suggested for newborn screening. In June, The Texas Newborn Screening Advisory Committee unanimously recommended to the Texas Department of State Health Services that ALD testing be added to the state panel. Julian’s mom Jenna went to the Texas Capitol then to share her story.
But Texas still has not secured funding to screen newborns for adrenoleukodystrophy.
Tuesday, Julian’s mom, Jenna Kampfschulte, will return to Austin to testify in front of the Senate Committee on Finance.
“This will be the first of hopefully many opportunities to get in front of the actual legislators who can influence the decision to add ALD to the newborn screening,” she says.
Next February the Texas House will honor Julian through a special resolution.
“That’s not making any progress necessarily,” Jenna adds, ” but a very nice gesture and another personalization, of sorts, of the request.”
You can follow the journey here at the Snuggle Julian Facebook page.
