Faces of Rare Disease: Adrenoleukodystrophy

Faces of Rare Disease: Adrenoleukodystrophy

Two young brothers are in the fights for their lives, battling a deadly rare disease called "Adrenoleukodystrophy" or ALD.  We continue our Faces of Rare Disease series today with the stories of Gabe and Luke Atkinson of Dry Creek.

In the yard at the Atkinson home, laughter fills the air and three young brothers are at play.  These are the moments when there is not a care in the world for 11-year-old Gabe, 8-year-old Cane and 6-year-old Luke.  The three boys share a special bond, but it is the oldest and youngest linked by something they cannot even pronounce: adrenoleukodystrophy.

Lake Charles neurologist, Dr. Reynard Odenheimer, says ALD is a rare, inherited disorder that disrupts the breakdown of certain fatty acids, destroying brain cells.  "It just destroys them and they get progressively worse," he said, "the actual mechanism by which it causes problems really isn't clear."

ALD is an X-linked disorder, passed from a carrier mother to boys.  "I carry the disease and each of my boys have a 50/50 chance of having this disease," said mother, Amy.  "Two of the three boys have it," she said.

Gabe started showing much earlier signs than Luke.  "About four years of age, his skin seemed to be a little darker than the other two boys," said Amy.

And there were some noticeable changes at school for Gabe, including difficulty in processing and recognizing material he once knew.  "Confusion at school and bad handwriting," said father, Mickey, "and just things uncharacteristic to Gabe."

When the boys got the ALD diagnosis two years ago, the parents' world stopped.  "The doctor at first had told us, 'there's nothing that you can do, he'll start doing worse in school, lose the ability to walk to see and he'll eventually go into a vegetative state,'" said Amy.

That was an outcome the parents refused to accept.  "This can't be," said Mickey, "this can't be that there is no hope. I've never been put in a situation before in my life where I was told that there is no hope."

Within three days, the Atkinsons found a doctor at Duke University to treat Gabe and get the ball rolling for Luke, whose condition had not progressed as quickly.

The boys knew it was serious.  "If I didn't go to Duke I'd die," said Gabe.

Mickey had the heart-wrenching talk with Gabe about the reality of the disorder.  "It's pretty tough talking to your little boy about the possibility of dying," said Mickey.

It was a risky procedure.  Both of the boys had chemo and medications to wipe out their immune systems - and start over with a bone marrow transplant and umbilical cord blood transfusions.  "The transplant is not a cure. It is our prayer that it would stop the disease and for the past two years it has," said Amy.

For both Gabe and Luke, umbilical cord blood was a life-saving took when it came to their treatment. Moms-to-be can donate their baby's cord blood for free, directly to Duke University - helping other children with rare diseases.  "If you don't, it's just medical waste that will be thrown away," said Amy.

Now, both of the boys are living with new immune systems no expiration dates.  "I feel a lot better," said Gabe, "I can do everything a lot better."

The boys still have to take daily pills, shots and go to numerous follow-up appointments.  "I do not like it," said Luke, "because they torture you with needles!"

While there is no real research on outcomes for the boys, they are setting a new stage for what life with ALD can look like.  "I tell my boys all the time, you know that God's given you this second chance and there's nothing that you can't do," said Amy.

ALD has taken away Gabe's ability to see and he also has seizures, compared to Luke who has good vision and no seizures. That is because Gabe was older when his condition was diagnosed, leading to more nerve damage.

If you would like to learn how you can help other children in similar situations to them, click here for information on the cord blood donor program that is free and goes directly to Duke University's public blood bank.

To learn about bone marrow donation, click here.

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