Even with an estimated 60 forms of the disease and more types of leukodystrophy being identified by the researcher Dr. Adeline Vanderverver, leukodystrophies are rare. The authors of one paper speculate that the incidence of leukodystrophy worldwide is about 1 in 5000 people, the same odds as giving birth to triplets (without the aid of fertility treatments).
The thing is, we might be a rare disease, but the label of orphan disease most assuredly does not fit leukodystrophy anymore.
Orphans are alone and neglected, that is not the case with leukodystrophy.
From the efforts of courageous families using social media to transform the landscape for patient advocacy to the the stunning developments in gene therapy, and the recent launch of a Leukodystrophy Center at one of the premier children's hospitals on the planet, there is now incredible hope. The work that Augosto and Michela Odone started when they invented patient advocacy is on the verge of achieving what they dreamed of for their son Lorenzo, giving children back their childhoods.
It started with Patrick Auborg's groundbreaking gene therapy for adrenoleukodysrophy (or ALD) that has made it possible for children who would have died by the age of 12 to attend high school and live normal lives. Understand this is not wishful thinking or science fiction. We already live in a world where children with leukodystrophy who should be paralyzed and non-verbal ride bicycles and attend school.
The next step is to get these treatments approved and make it possible for doctors to find children in time to save them.
The good news is that this effort doesn't require millions of dollars or brilliant scientists making incredible breakthroughs, now, we just need people to pay attention and share this story.
What needs to happen next is to get the first leukodystrophy - ALD (or adrenoleukodystrophy) - added to the Recommended Uniform Screening Panel (RUSP).
That's quite a mouthful, and most people know precious little about the heel prick tests administered to every newborn in the US.
But the fact is that newborn screening has been a powerful tool in the fight against pediatric genetic disorders for 50 years and it represents our best chance to eradicate this disease once and for all. As one noted neurologist specializing in leukodystrophy explained, "The goal now is to put me out of business."
As of today, the millions of babies born in the US are screened for a minimum of 32 disorders. Some states have other screenings as well, but RUSP represents the diseases all hospitals must test for among all newborns.
The process for being included on the RUSP is rigorous. A board of medical ethicists, doctors, policymakers and researchers will review a disorder. Many factors will be considered, but the two most importants prerequisites include 1) a reliable and cost-effective test to identify children with a disorder using a blood sample from a heel prick and 2) a treatment that will significantly improve the quality of life for patients once they are identified.
Members of the RUSP voted unanimously to review the ALD proposal and there will be a vote to decide if ALD gets added to the Panel in August. The good news is that New York, New Jersey, California already include ALD in their state mandated newborn screenings and we want the same to be true for every state.
To be sure, it is a milestone to have gotten this far in the process. Less than 1 percent of the 9000 rare diseases have any treatment, the fact that ALD has a gene therapy protocol and a newborn screening test is a testament to the dedication of doctors, families, and researchers working on this goal for more than a generation.
So what comes next? We need your help.
We are not asking for your money, just your support. Spread the word about the #Savetheboys campaign (ALD is linked to the X-chromosone so it is disease we see in boys only), sign the petition so that we can have at least 100,000 signatures by the August vote, repost the stories of families affected by ALD, and encourage others to do the same.
We live in an amazing new world where we can do more than cure this disease, we can make sure another child never gets sick.
Let's put some pediatric neurologists out of a job.