When Max Phipps was diagnosed with ALD at 14, his parents were taken into a room, given an A4 sheet of information and left alone with the knowledge that their son had just two years to live.
Devastated, they struggled to break the news to Max: he had adrenoleukodystrophy. This rare, genetic condition would almost certainly quickly leave him unable to walk, talk and eat, destroying his mental capacity before taking his life.
Finally understanding the reason behind his symptoms was somewhat of a relief to young Max, who accepted his fate and decided to take each day as it comes. Offered a bone marrow transplant which had a 70% chance of worsening his condition, he opted to take his chances without the transplant. A rush of activity followed; Max took part in activities such as a visit to Silverstone with charity Starlight and social events through his hospice, to make the most of what were expected to be his last months.
Remarkably, it’s been ten years since his diagnosis. At 24, Max’s eyesight has deteriorated and he uses a mobility scooter, but he feels lucky to have avoided the short path he was expected to follow. The medications he takes today help him to manage his pain but do not claim to stop progression of ALD; his continued survival and relative independence defies medical explanation.
Outliving expectations against all odds has brought its own problems for Max, who feels left in limbo by life “after” terminal illness. Today, Max has an active, ambitious and adventurous mind; and a body that can’t keep up with it
Max often finds his biggest struggle is the systems he must go through to get the help he needs. Lack of understanding of the condition by professionals often has him labelled as “not ill enough” for financial and other help, even with supporting letters from his consultant.
Keen to keep himself busy and to give back to the services that have helped him, Max works with disabled children to provide respite to parents. In his spare time, he volunteers at the hospice which once supported him, with the local council Physical Disabilities Team and, previously, as a Parish Councillor. After taking a gap year, Max is ready to get back to studying and is about to begin a college course to pursue his passion for media and video production.
Through ALD Life, Max has met others with ALD at Community Weekend events. The Community Weekends have introduced him to lifelong friends from across the UK and around the globe; he only wishes the events could happen more often. While ALD has had a huge effect on his social life, he finds comfort in talking to those who can relate to his struggles; those who, like him, are experts through their own experience. Having such a rare and poorly understood condition can be isolating, so Max encourages anyone curious about his ALD, his medication and his lifestyle to ask questions.
Lack of understanding and awareness of ALD affects Max’s ability to access assistance, as well as his social life with friends who cannot understand his struggles. It also has serious consequences for those unknowingly carrying the ALD gene, who often do not find out about the condition until symptoms develop: by which time it is too late for treatment.
New born screening to test for ALD could be an answer to this, revealing the gene as soon as a baby is born and allowing for action to prevent the condition developing. Alex TLC and others are fighting to add ALD and other rare conditions to the UK screening list, something that Max encourages for the amazing difference it would make to so many families.
Max’s story is of the struggles of growing up with adrenoleukodystrophy, with the limitations this brings to his independence and social life, the pain and tiredness that his medications can’t always contain, and the constant threat of ALD progressing. For almost all those diagnosed with ALD as children, however, independence and adulthood are distant hopes as lives are cut tragically short.
Through pushing for new born screening, encouraging research and by bringing together and supporting those affected by ALD and AMN, Alex TLC works to help individuals and families to cope at all stages of a difficult and isolating journey.
If you and your family are struggling with adrenoleukodystrophy or adrenomyeloneuropathy, you don’t have to do it alone. If you need support or advice, or would just like further information, please contact us.