About a year ago, I wrote a blog about the Minnesota newborn screen. At the end, I told a story about a family of mine that had been picked up early on that screen for a deadly disease. What I didn’t say was that the mom of those boys is our much beloved Jamie McAnelly. Jamie was a pediatric nurse practitioner and lactation consultant at South Lake Pediatrics until she stepped back to care for her sons and their health. Below is Jamie’s story. She is a fierce and wonderful mama bear. We hope you can join in her fight! Dr. Katie Schaefer
On January 3, 2019 our second son, Meyer, was born. We were overjoyed! He was the perfect addition to our family. Little did we know, he had bigger plans for us. One week later, we got the call that our sweet baby was positive for a rare but deadly genetic disease called X-Linked Adrenoleukodystrophy (ALD). As our pediatrician at South Lake Pediatrics explained this disease to us, I went numb. Our lives were forever changed by this information. After more testing was done, the disease was indeed confirmed and the second string of bad news was delivered. Our older son, Murray (who was 3 at the time), also tested positive for the disease.
X-Linked ALD is a deadly genetic disease carried on the X chromosome that affects 1 in 18,000 people. The majority of those severely affected are boys and men. Current statistics show that 4/10 boys diagnosed with this disease will develop cerebral ALD. This brain disorder destroys the myelin, or protective sheaths, in a brain. These nerve cells are what allow us to think and control our muscles. Most cases are found in childhood between the ages of 4-10 years of age when the symptoms begin to progress. Seizures, blindness, deafness, loss of muscle control, and progressive dementia lead to death or permanent disability within 2-5 years from diagnosis.
Thankfully, X-linked ALD was added to the MN newborn screen in February of 2017. Not all families are this lucky. Just by being born, Meyer has already saved his big brother’s life. We are now being followed by the best research hospital in the world, The University of Minnesota, for our boys’ disease. We get routine MRIs every 6 months as well as labs to monitor their adrenal function. So far, our boys are asymptomatic. If a lesion is picked up on the MRI early, the treatment is either a bone marrow transplant or gene therapy to “reboot” their bodies and halt the disease. No other treatment exists right now. Relying on a transplant is a scary place to be with a lot of risks involved.
But our story doesn’t just stop there. We have decided to turn our anxiety into action. Unfortunately, with a disease this rare, not a lot of funding has gone into ALD research. There are some very promising research initiatives but simply not enough funds available. The majority of these funds are entirely dependent on charitable donations. And these donations are tough to come by with such a rare disease. This is why we have banded together with some other amazing families to start a non-profit organization called X out ALD. The more money we can raise, the more research can happen to improve the chances of our boys and others like them. The medical team has very promising ideas to pursue but the research must be conducted to get actionable results. We intend to help be a piece of that solution. We’d love it if you wanted to help as well.
At our inaugural event last year, we raised over $130,000!! This year our 2021 Outrun ALD Virtual 5K is on September 18, 2021. You can walk, run, bike or sit on your couch and cheer us on! Since it is a virtual format, you can do it anytime, anywhere you’d like. Registration is $25 and you will receive a t-shirt that you can proudly wear around town, helping create awareness of this rare disease. Please join team Mac Attacks ALD or simply donate to our cause. Our boys thank you!!