Our Story — Ryan and Ethan – Adrenoleukodystrophy (ALD)

[David and Cian are traveling from Waterford Ireland to run the Boston Marathon for their patient partners Ryan and Ethan.]

Ryan and Ethan Caulfield McCormack from Tramore, Co.Waterford, were recently diagnosed with Adrenoleukodystrophy (ALD).  ALD, is a deadly genetic disease that affects 1 in 18 000 people. It most severely affects boys and men. This brain disorder destroys myelin, the protective sheath that surrounds the brain’s neurons — the nerve cells that allow us to think and to control our muscles. ALD causes relentless progressive deterioration to a vegetative state or death, usually within five years. It knows no racial, ethnic or geographic barriers.

The prognosis for patients with childhood cerebral X-ALD is generally poor due to progressive neurological deterioration unless bone marrow transplantation is performed early.

Ryan is currently in the US in rehabilitation after undergoing the process for a bone marrow transplant which was performed on the 26th December 2012.

Ethan is currently asymptomatic due to his age (childhood ALD only becomes symptomatic from age 5 generally) and will become a candidate for a bone marrow transplant when his myelin sheath begins to deteriorate. There is presently no cure for ALD.

Currently the people of Waterford and the surrounding areas are on a campaign to raise funds to cover the remaining costs of the transplants (estimated at 3 million euros, some of which is being paid by medical insurance). We, as a community have vowed not to have either boy denied treatment due to lack of funds. Any donations, big or small are appreciated.

Please take the time to read the story from their mother, Caroline, below. 

David and Cian

Our Story

Ryan, Big E and Jack.

Life was pretty normal until a short while ago.

In 2006, I gave birth to twins, two beautiful boys, Ryan and Jack. They were both perfect, healthy and happy in every way and meeting all their milestones with ease. As a mum, I couldn’t have been happier. It got even better two years later when another bundle of joy arrived in the form of Ethan, whom we affectionately call “Big E”. I was blessed with three beautiful boys & life was rosy.

In August 2010, Ryan and Jack started in the local primary school and Big E started in playschool. Everything was as it should be, hectic but fun!

Suddenly, in August 2012, I noticed that Ryan was exhibiting some unusual symptoms. I wasn’t at all sure what was wrong but I was very concerned. He had become a little clumsy and his attention span seemed a bit short. When Ryan went back to school in September, his teacher also noticed that something was amiss and thought maybe that there was something wrong with his hearing but a hearing and eye test confirmed that all was normal. I was still very concerned, so I got Ryan referred to our local hospital where he underwent a full examination.

The consultant assured me that everything was fine and referred Ryan to a psychologist. Any mum out there will understand when I say that I just knew that something was desperately wrong even though all his tests were coming up clear. A visit with a fantastic speech and language therapist who agreed that something was not right, I decided to seek a second opinion.

I put Ryan in the car that evening and brought him to Dublin. This time, I insisted that an MRI scan be carried out. The next morning, my whole world fell to pieces, literally. Ryan was diagnosed with hereditary ALD, a disease I remembered seeing in the film “Lorenzo’s Oil” about 25 years before. Following extensive research online, we found a hospital in Minnesota that deals with ALD and there, Ryan began his journey on the 26th November 2012. A bone marrow transplant was the only hope for Ryan. This procedure carried with it huge risks that I don’t like to dwell on but it was the only option available to us at the time.

As ALD is a hereditary, primary a male disease and even though the chances were only one in 2 million, we decided to get Jack, Ryan’s twin and Big E tested. It turned out that, despite the odds, Big E also has ALD.

As of today Saturday April 6^th, Ryan is continuing his rehab at a Ronald McDonald house in the US, he is getting his lines out and we were making plans to come home to Tramore but unfortunately, he’s back in hospital. It’s a suspected case of pneumonia and our fingers are all crossed that’s all it is.

The good news for Ryan is that the disease has not spread in the last two months (results of MRI) so the transplant seems to have done its job, it will never repair the damage that was done and he still has a long road ahead but has come very far since September.

As for Ethan, the results of his MRI scan came back and he is all good for another 6 months as there is no change in his condition.

We need to make more parents and consultants aware of the symptoms this deadly, silent HORRIBLE disease. Thanks for reading this and for the overwhelming support that my family have received over the last few weeks.

Caroline McCormack

On behalf of Jimmy, Ryan, Jack and Big E xxx

Adrenoleukodystrophy Awareness

A short video explanation of the effects of ALD and possible treatments available to the effected patient: