No, not the ‘Ice bucket thing’. That’s ALS. This is Adrenoleukodystrophy (ALD). It is an X-linked recessive disorder that affects an estimated 1 in every 18,000 live births. It is primarily a childhood disorder where boys are born appearing completely healthy until symptom unset sometime between the age of 4 and 8 – and then a rapid deterioration of the myelin sheath occurs that brings a cascade of devastation to the child and his family. The disease is 100% fatal within 2 to 5 years of diagnosis. Once symptoms appear, there is no effective treatment to stop the disease from progressing – and researchers are working hard to find treatments and cures for those who are affected.

I have been working in the newborn screening space on behalf of our Duchenne community for several years, and have been shoulder to shoulder with many other patient advocacy communities whose stories were compelling. But Thursday, September 11 was different. As I attended the meeting of the federal advisory committee which oversees our nation’s newborn screening programs, I was among two communities who would be presenting that day, Duchenne and ALD.

Thursday was different. The similarities between the two communities sent shivers down my spine.

Both are x-linked recessive diseases where children born without a family history have seemingly non-symptomatic, normal development for several years prior to the onslaught of a diagnostic odyssey. After symptom onset, the disease has no effective treatment to reverse damage. Both are 100% fatal. Both have valid, reliable, and in-expensive diagnostic tools. Both can be screened for at birth.

But here’s what is different.

Here’s what breaks you at your core. Here’s why the Duchenne story must not mirror the ALD story.

While there is no treatment to prevent death from ALD once symptoms have appeared, there IS a treatment for ALD that can prevent symptoms from EVER appearing if the disease is detected pre-symptomatically. In families where a child has been diagnosed and had to endure the devastating effects of the disease, genetic testing of siblings, cousins, and other family members has allowed for the identification of other children who have ALD but were still pre-symptomatic and successful treatment allowed them to live healthy lives without the effects of their ALD. In other words, screening for ALD would have saved those lives. Not just saved those lives. Prevented the disease from ever showing symptoms.

When you have a baby in a U.S. hospital, your newborn has his/her heel pricked and small sample of blood taken. That blood sample is used to screen for a panel of diseases that – if detected early – could be treated with life-saving consequences for your infant. Over the past 50 years, newborn screening has evolved from a fragmented provision of limited screening of newborns to a comprehensive nationwide program that is directly responsible for identifying and saving thousands of babies every year who would otherwise go undetected until it’s too late to provide a meaningful, life-altering medical intervention. Prior to passage of the law that authorized the federal newborn screening program and the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) (P.L. 110-204) in 2008, the number and quality of newborn screening tests varied greatly from state to state. In 2007, only 10 states and the District of Columbia required infants to be screened for all the recommended disorders. Today, 44 states and the District of Columbia require screening for at least 29 of the 31 treatable core conditions. In many cases, whether your child is identified as having a specific condition early enough to deliver a life-altering treatment is dependent on the state in which your baby was born. A cruel lottery.

The SACHDNC is comprised of child health champions and leaders from across the federal agencies who have been working tirelessly to address the myriad of issues that arise as life-saving therapies come onto the market and new newborn screening tests are warranted. Hurdles include appropriate screening tools, funding for state public health laboratories, funding for the agencies that oversee these programs, information dissemination and training for health care providers, support and outreach networks for new parents who may be facing difficult diagnoses, and more. These are not simple issues, and they cannot be tackled by federal advisory committees alone. That is why PPMD is working to formalize a national effort to prepare for Duchenne newborn screening infrastructure in the United States.

I sat next to two extraordinary parents on Thursday. One was a dad of a healthy 14 year old boy who loves football and high school. His son is alive today because he was treated for ALD after their family was blind-sided by his cousin’s diagnosis and death.

The other was a mom who sat holding a school photo of her beautiful, blonde haired, 6-year-old little boy. It was taken prior to his diagnosis and was the last school photo he ever had taken. Newborn screening for ALD could have prevented this.

Ready for this?

If you have a baby born tomorrow, your baby STILL will not be screened for ALD.

The process is tedious, thorough, complex, and intense.

Our Duchenne community has therapies in today’s pipeline that will be most effective when administered early. Our formalized efforts to move towards Duchenne newborn screening began several years ago; our community push begins now.

While I cannot think of much worse than the current Duchenne story, I shudder at the thought of us one day having treatments available that will (with certainty) prevent Duchenne symptoms from ever appearing – but no national mechanism to identify the children who will benefit from that treatment until it is too late.

That cannot ever be our Duchenne community story. Our community push begins now.

Click here to read the public comment I submitted on 9/11/14 on behalf of the Duchenne community and PPMD.

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