Donna, Lee & Shaun

Donna has two sons, Lee and Shaun, aged 26 and 31. They both have adrenoleukodystrophy (ALD) and adrenal insufficiency. A rare, genetic condition often affecting young boys, ALD can have a devastating effect on ability to walk, talk and eat unaided, often leading to death within a few short years. Adrenal insufficiency, or Addison’s Disease, is common in males with ALD, and can be a key indicator leading to ALD diagnosis, as it was for Donna’s sons.

At age 4, Lee was sent home from school with an infection. This was not the first infection he had suffered, but it soon became the most severe. He was prescribed antibiotics, but after 24 hours these had still had no effect. Donna decided to wait until the following day to return to the doctor if Lee’s condition had not improved. That night, he became more severely ill, going into shock and ultimately being put on life support in hospital.

Lee was diagnosed with adrenal insufficiency; a lifelong condition that would mean he would need steroids to regulate hormone levels and manage further shocks like this one, known as adrenal crises. An endocrinologist worked with Lee and his family to find the cause of the adrenal insufficiency. Two months later, Lee was diagnosed with ALD.

The diagnosis came as a shock to the family: there had been no other signs of the condition, and no history of ALD in the family. They were lucky to have seen an endocrinologist who was thorough and knowledgeable enough to perform tests for ALD: while the likelihood of a positive diagnosis of this rare condition without other indicators is low, early diagnosis can be life-saving.

Following Lee’s diagnosis, his older brother Shaun was also tested for ALD and adrenal insufficiency. 10-year-old Shaun’s diagnosis of both adrenal insufficiency and ALD suggested that his hyperactivity and declining school work were in fact early symptoms. The rest of the extended family were tested, but no more cases were found.

Both boys were prescribed life-long steroids for adrenal insufficiency and had MRI scans to see if ALD had begun to cause changes in the brain, called demyelination. The only current treatment for ALD is a Bone Marrow Transplant, which can effectively halt this demyelination before it becomes severe. Lee and Shaun both returned normal MRI results: demyelination had not begun, meaning that they were not yet eligible for Bone Marrow Transplant, but that this could be a possibility in the future. Further MRI scans were scheduled.

Preparations for these Bone Marrow Transplants began, as finding a matching donor who can give bone marrow can take time. Doctors hoped that by beginning this process before the transplants were needed, they would be able to act more quickly when demyelination began and increase the effectiveness of the transplants. Lee began to take Lorenzo’s Oil, a remedy which in some cases can slow the deterioration process. Lorenzo’s Oil is not known for its appealing taste, however, and Shaun refused to take it

When Lee and Shaun returned for follow-up MRI scans, the results were shocking: both boys were now found to have severe demyelination, with ALD having caused advanced changes to their brains. A transplant was scheduled for Lee, but after a second opinion was sought on this most recent scan, it was cancelled. Shaun was also deemed ineligible for transplant.

The months following this devastating news saw Lee deteriorate greatly, losing the ability to walk, talk and eat independently. This happened in contrast to Shaun, whose stable condition in a somewhat arrested form of ALD shows the unpredictable nature of this condition.

Coping with her sons’ conditions was difficult and isolating for Donna; despite invaluable support from friends and family, she felt the need to connect with others who knew what she was going through. Living in the North East of England, Donna felt that her sons were the only affected boys in the region, isolated from specialists and lucky to have been seen by a consultant with knowledge of ALD who had moved from London.

Within the first few years of her family’s journey with ALD, Donna discovered the newly created ALD Life, now Alex, The Leukodystrophy Charity (Alex TLC). She attended the charity’s first ever Community Weekend, meeting other families with ALD, and has brought her family to every possible Weekend since. Talking to those who understood her condition, Donna supports and is supported by people who have become her lifelong friends, helping her to feel less alone.

Continued contact with the Alex TLC community in the following years has come in the form of leaflets and emails from Sara Hunt, CEO, and Karen Harrison, Support Services Manager, as well as social media contact with her friends from the Community Weekend. Information on ALD provided by Alex TLC is still Donna’s main source of knowledge on this poorly understood condition.

Today, Lee’s condition has been stable for many years, a rare occurrence which cannot be explained by ALD experts. He has complex needs and is completely dependent on care from others, and Donna works hard to maintain his health.

Shaun is still able bodied and fairly independent, although he has other difficulties such as congenital deafness and a learning disability which may or may not be linked to ALD. 

Both Lee and Shaun continue to take steroids for adrenal insufficiency, with both having suffered multiple adrenal crises in the years following diagnosis. Lee and Shaun have both suffered from stomach bleeds caused by these steroids, a rare but cruel side effect of a vital medication they both need to prevent and manage these crises.

While Shaun takes a few other medications, apart from steroids, to manage allergies, gastritis and minor complaints, Lee takes many different forms of medication to fight off the worst of his symptoms, which include epilepsy, chest infections and gastroparesis, and to prevent these from causing adrenal crisis. ALD has changed Lee and Shaun’s lives, but Donna knows that her sons have been luckier than most who face this condition. Without the bone marrow transplants considered to be the only hope for those with ALD, both of her sons have survived into adulthood against the odds. Grateful for the unexpected and inexplicable halting of their disease progression, Donna is determined to maintain the health and happiness of both of her sons for as long as possible

If your family are coping with adrenoleukodystrophy (ALD), connecting with others who understand can help. To speak to Alex TLC staff, who can provide information, connect you with specialists in your area or introduce you to others coping with this condition, please contact us.