The Family Impact of ALD

Erika Baker and her family have been dealing with the impact of adrenoleukodystrophy (ALD) for generations. The disease has impacted several of her family members, including her uncle, her cousins, and even her father. While she is not thought to be affected by the disease herself, there is a good chance that Erika could be a carrier. Although she is currently unsure, she plans on getting a genetic test soon to confirm whether or not she is a carrier. We sat down with Erika to hear from her about how the disease has impacted her family.

ALD is a genetic disease that is linked to the X chromosome. The disease is characterized by the build-up of fatty acids, which occurs because the enzyme that is responsible for processing them is absent or present in insufficient quantities. This leads to damage of the myelin sheath, an insulating, fatty layer that coats nerve cells and is vital to their normal function. The mutation that causes ALD is found on the ABCD1 gene. Symptoms of ALD can vary depending on the subtype, as the disease can present a different stages of a patient’s life. In the most severe childhood form, symptoms include abrupt changes to personality and behavior, hyperactivity, emotional instability, and adrenal insufficiency. Progressive demyelination eventually leads to a vegetative state and death. To learn more about ALD, click here.

“My dad’s got AMN, the adult-onset form of ALD.” – Erika Baker

It is impossible to predict how ALD will present itself, and Erika’s family has been affected by a variety of types. Her dad has a type known as adrenomyeloneuropathy (AMN). This type leads to a progressive loss of nerve function and paralysis, and some patients also experience cognitive effects.

“Just watching my dad, since I was a little kid, gradually getting worse. He started losing his muscles, started using a cane, then a wheelchair, and now he’s using a scooter to get around.”

Erika’s uncle also had AMN, but for her father, the symptoms starting appearing when he was around 30 years old. Ever since, she has done her best to take good care of her dad and is also committed to researching the disease and learning as much about it as possible.

“We don’t know if I’m a carrier… here in Des Moines, Iowa, we don’t really have a doctor who understands ALD or AMN.”

Erika highlights the fact that caregivers, for the most part, are limited in their ability to help and many do not have much knowledge of this rare disease. Getting effective treatments and assistance can be difficult as a result.

“It’s a fifty-fifty chance, but either way I’m okay with whatever the answer is.”

“I’ve been researching every day to find a better medicine.”

Erika believes that there is a way to treat or cure ALD, and she keeps up to date on the latest in research and treatment for it. While she believes that some progress has been made in recent years, the lack of new research can sometimes be discouraging.

“He is doing pretty well. For him being in so much pain for his whole life he is in pretty darn good spirits… it could be a lot worse.”

Erika says that her father has experienced the world differently since he started using a wheelchair.

“It’s a whole other world out there, you see so many selfish people… they just don’t appreciate those that are wheelchair-bound or think about them.”

The possibility of being a carrier has loomed in Erika’s mind for a lot of her life.

“My whole life I’ve been traumatized. When I was a kid… I don’t think I should have been told when I was a kid that you may not be able to have [kids], or when you have kids you might have to go through all that. I don’t think it should stop anyone from having one.”

Erika helps her dad with treatment, and tries to help him retain as much movement as possible.

“When he gets sick, we’ve been working on his arm strength. That’s all he’s really got to use and keep him going; he’s pretty much numb from the waist down.”

Erika cites their Christian faith as a source of hope and determination. She believes that there is a way for her father’s illness to be treated more effectively.

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