BY NEWS REPORTER
ALD is three simple letters that can have a drastic impact on a family over night. Sara Hunt from East Dulwich experienced this impact first hand when her sons were diagnosed with Adrenoleuko-dystrophy (ALD) nearly 17 years ago
ALD causes depletion of myelin (the protective sheath surrounding nerves) in the brain, and by the time symptoms manifest, it is too late for treatment. Early diagnosis is therefore critical.
Sara’s son Alex was a lively boy of seven, well behaved and polite. There seemed no reason for concern. He learned quickly and was progressing well at school and at home. Not long after Alex’s seventh birthday, his behaviour started to change. Alex had started becoming more volatile, switching moods abruptly with no warning.
“I initially put it down to sibling jealousy caused by the birth of his younger brother Ayden,” Sara told us. “I tried to shrug it off, but the concern in the back of my mind just wouldn’t go away.”
Sara’s concerns were justified when she received a call requesting that she went to see Alex’s teacher. The teacher had also noticed changes in Alex’s behaviour and was equally concerned. The uncomfortable conversation with Alex’s teacher confirmed that Sara wasn’t imagining the problems, there was something not right with Alex.
After speaking further with Alex, Sara learned that it wasn’t just his emotions he was struggling with, Alex felt his sight and hearing were disappearing – they immediately sought medical advice. The tests all came back as normal, no issues were identified. The family initially took this as good news but over the next few weeks Alex’s sight, hearing and behaviour deteriorated further. Soon after, Alex started to lose his sense of direction.
“It was terrifying as a mother to witness that my son, who had been becoming so independent, seemed to be regressing. The school also alerted me to the fact that Alex seemed to be losing his senses as well as his way around the school and we realised we had a serious problem.”
The school was amazingly supportive at this difficult time and referred Alex to a community paediatrician, who immediately referred the family to King’s College Hospital, London. Within weeks Alex had a consultation at Guys Hospital paediatric neurology department. It was here that Alex was diagnosed with ALD. ALD is a genetic disorder which destroys the myelin sheath which covers the nerves in the brain responsible for muscle control and sensory interpretation. This results in the loss of both physical and sensory functions, including the ability to walk, swallow, see, hear and speak. ALD is most prevalent in males and can be deadly. Although males are most affected physically by ALD, females can carry the genetic disorder unknowingly and pass it on to future generations.
Receiving the diagnosis gave Alex, Sara and their family relief as now they could be proactive in how they treated the situation. This relief was short lived.
“We were quickly told that every skill Alex had lost would never return. The beautiful boy that I had raised was retreating into himself, running away from me. There was nothing I could do to stop it. It was a devastating blow.”
Sara, not wanting to waste any time, took steps to make the most of the situation. Pleased that Alex could still walk, and with the help of generous fundraising, Sara took Alex and Ayden to Disneyland, hoping to give the brothers a trip of a lifetime and an escape from the environment that had caused them so much stress.
Their holiday was only for two weeks but by the time they returned Alex could no longer walk. His ability to eat, drink and speak was fading fast and it was clear that he was in a lot of discomfort.
It was at this point that the family found out that Alex’s younger brother, Ayden, also had ALD. Thanks to the medical team behind both diagnoses, Ayden’s test had been rushed through, and his diagnosis came at a much earlier stage to Alex’s. They were told that Ayden would be monitored regularly using Magnetic Resonance Imaging (MRI) scans for early signs of ALD and could be treated with a bone marrow transplant if necessary. Sadly, it is a treatment that is only effective at the first sign of changes on an MRI scan and so not for Alex, but there was a good chance for Ayden. This was the first bit of good news in what felt like an eternity for the family.
“I will be forever grateful that as soon as we knew the diagnosis for Alex, the specialists had rushed testing through for Ayden.
It was a double blow, to watch Ayden gain new skills whilst Alex’s were disappearing before my eyes, not to mention not knowing if or when signs might appear with Ayden. It was a heartbreaking time, yet hectic, so thankfully there was no time to sit and brood on the unfairness of it all.”
Within the next year Alex became blind, tube-fed, wheelchair-bound and stopped talking; his wonderful smiles an increasingly rare occurrence. He experienced frequent painful muscle spasms and lived in discomfort.
Life had gone from the daily routines to which most parents can relate, to having to re-learn and adapt to the trials of what was now the family’s daily life. Seemingly simple tasks became complicated and no-one knew what would come next.
Despite efforts to seek out people who could help and advise the family, very little could be found. Not much is known about ALD and it failed to appear on the radar for many healthcare professionals. This led to a lack of support groups, public awareness and a sense of isolation for families going through similar situations.
During this period Ayden had regular appointments at the hospital for his MRI scans to check for signs of ALD. In 2008 the dreaded news came that signs of ALD were starting. Ayden had his bone marrow transplant within weeks of this news, and although it was a painful and intense procedure, with many psychological and physical hurdles taking years to overcome, Ayden is now a healthy teenager free from the fear of ALD and studying to go to university. The whole situation has been a double-edged sword. Whilst we are so, so grateful that Ayden survived this ordeal, the guilt he felt for being the one who could be treated was heart-breaking to witness,” said Sara.
As Sara sought help and advice online she began to meet other families facing similar challenges. People slowly began connecting with her with similar stories to her own. From this experience, Sara came up with the idea for a charity to fill the gaps so many families impacted by ALD needed. This idea became the charity ALD Life.
Sara started ALD Life from her kitchen while she looked after her two boys from home. Starting ALD Life has been the most cathartic experience, and the support network created has become immensely powerful. I would not have coped without my ALD Life family and I am ever grateful for the wonderful people that are now part of our lives because of this venture,” said Sara.
One of the ladies she met early on was Karen. She had twin boys, Alexander and Cameron, and had suffered a similar journey to her own. Alexander developed a squint at age six, the family were told that it was nothing to worry about and was an eye muscle condition. After a series of prescribed eye exercises and corrective glasses the squint improved. However, a family holiday in the same year saw Alexander’s behaviour change and he started to become disorientated and was relying heavily on his twin for support.
Karen spent months on the family’s return pushing for the doctors to take Alexander’s condition seriously and he eventually tested positive for ALD. Soon after they discovered that Cameron also carried the disorder and was beginning to show signs. Their lives were torn apart. Immediately Cameron was referred to a specialist at Bristol Children’s Hospital where he received two bone marrow transplants. Devastatingly the transplants did not halt the progression of the disease and he is now severely disabled. Despite his disabilities he is a happy 21-year-old and a valued member of the family and community around them.
Alexander, however, sadly lost his life to ALD aged only eight. They also have an unaffected son, Glenn, now 15, born in the midst of his brothers’ traumatic ALD diagnosis.
Sara’s son Alex sadly passed away just before Christmas on December 19, 2012, aged 19. Spurred on to make ALD Life the go-to organisation for all with ALD, her voluntary work as founder transformed into full time employment as the CEO.
Karen’s own journey of the devastating effect that ALD can have on lives so young brought the women together on a mission to raise awareness, offer meaningful help and advice and fund research. After several years’ involvement with ALD Life as a beneficiary and supporter, Karen joined the staff team as the support services manager in 2013, working alongside healthcare professionals to provide a tailored support package for all those affected by ALD. It was such a relief to have Karen alongside to share the workload. She has become invaluable to the charity, not to mention one of my closest friends, and we work together incredibly well.”
Sara and Karen’s much-loved boys, alongside those of their ALD Life family, provide the inspiration that lives on through the work of ALD Life, as they fight for awareness, research and support for all affected by adreno-leukodystrophy. They are now planning to take ALD Life to the next level by expanding the organisation to support all leukodystrophies, adreno-leukodsytrophy being just one of many.
ALD Life has grown into a national community and movement with five shops across South-east London supporting the staff so all donation money raised can fund further research, support and awareness of these life-changing conditions as they work towards earlier identification of people affected by adreno-leukodystrophy.
If you’d like to support ALD Life, you could vote for their Community Weekend Project in the Aviva Community fund awards https://community-fund.aviva.co.uk/voting/project/view/17-1494 The projects with the most votes could win up to £10,000 of funding.
The ALD Life Community Weekend brings together patients, their families and ALD doctors and researchers to support, learn from and advise each other.
It’s a vital event for those affected by ALD, illustrated by a bereaved mum attending the last event – “It never ceases to amaze me that “we – the ALD Life family” manage to have such fun amidst such dire situations.”
Visit www.aldlife.org to find out more and see how you can prevent another family from experiencing a similar story to Alex.
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