I went to our State Capitol on Tuesday, March 17th and met with the Representative from a neighboring district to talk about newborn screening, specifically for Vitamin D and for Krabbe. This was in support of two other families who contacted me and asked if I could attend.
Two heartbreaking situations. As is typical with Leukodystrophies, one of the famies has two children with Krabbe, one who was not diagnosed and is in the throes of the disease. The younger brother was diagnosed as a result of his brother’s symptoms, has had treatment and is doing great. She recently had an article published online about her family – Family’s Bittersweet Journey Spares One Son From Rare Disease, But Not the Other.
Overall the meeting went great and we managed to hijack a 30 minute slot into an hour and 15 minutes I was able to give them a lot of information about CTX, mentioning that a newborn screening test is being developed and will have something to pilot in the hopefully not too distant future. I learned a lot about the process for sure which is good knowledge to have going forward and made a strong ally in the fight to get tests into the NBS program in Oregon.
He does have an uphill battle as the Chair of the House Health Care Committee does not see eye to eye on some of these initiatives, Krabbe being one of them. He says it’s too rare, the prevalence isn’t high enough. The individual I met with yesterday is going to use some of his peers to put pressure on him though to hopefully change his mind. So it’s good to know he’s willing to engage in that fight. I guess we can use our votes to change the situation if it comes to it though. Just have to convince enough people :). One thing is clear though, knowing the prevalence of CTX is key to pushing NBS with CTX.