Like any other family, a day out for Elisa Perugini and her family is a time for relaxing and enjoying time spent together. Martina, aged 7, plays happily with mum Elisa and dad Marco, but her older brother Michele cannot join in. Wheelchair bound and unable to interact with those around him, Michele has adrenoleukodystrophy (ALD). Every day spent together is made more precious knowing it could be the last.
When Michele began to have attention issues aged 8, psychologists in his hometown of Rimini, Italy, assumed he was just jealous of his 4-year old little sister. He developed a tick, began to suffer sight loss in one eye, and his attention issues worsened. This was the summer of 2015.
By the following year, Michele was no longer able to connect his favourite Lego bricks together. Elisa and Marco were becoming desperate. They insisted Michele receive an MRI scan, which revealed white matter on his brain in April 2016. Searching for a second opinion, the family travelled to Genoa in September, where doctors confirmed the presence of white matter and reached a diagnosis: adrenoleukodystrophy, or ALD.
These specialists were able to provide Michele with an oil intended to relieve symptoms and hoping to halt progression of his condition. By this time, however, 4 months had passed since his diagnosis.
Devastatingly, these months had seen Michele lose cognitive ability, and he could no longer independently feed himself.
A diagnosis of ALD was by no means an end to the family’s suffering: this rare, genetic condition strips young boys of their ability to interact with the world in a few short months, usually resulting in death within a few years. Determined to understand their son’s needs and his complex and poorly understood condition, Michele’s parents looked for answers, in Italy and beyond.
Family friend Roberta, living in the UK, connected the family to Alex TLC to provide this support, community and understanding. Alex TLC were able to support them through the difficulties of having a condition that even doctors had failed to understand, by helping Elisa and her family to find specialists in Naples.
Since beginning to take the prescribed oil, Michele’s condition seems to have stabilised. Although he is no longer able to walk or talk, his family remain proactive and determined to help Michele to cope and to enjoy life as much as possible. Beyond medications such as hydrocortisone and muscle relaxants, he has daily physiotherapy sessions, osteopathy and massage. Michele’s daily physiotherapy in particular seems to be highly successful in reducing spasms and relaxing his muscles.
Elisa is a strong believer in the power of a healthy lifestyle, crediting Michele’s diet as a significant factor in preventing further regression. The family have also tried animal therapy and music therapy to help Michele and are always on the lookout for innovative new ideas.
Elisa’s message for families facing the devastating reality of their son’s ALD diagnosis is to stay strong, stay united and live life the best you can. Michele is now aged almost 13, and his family hope to connect with others his age living with ALD. Their live-every-minute attitude will certainly be inspirational to many, and the thought of supporting and being supported by those who can really understand life with ALD is some comfort for Elisa.
The family strongly support the need to screen new born children for ALD to help early identification; Elisa and Marco know that this identification could have made all the difference for Michele, as for so many others. If identified early enough, those with ALD can have bone marrow transplants which can completely halt symptoms. Following Michele’s diagnosis, other family members have been tested for ALD and fortunately do not have the condition. Elisa herself, a carrier of the condition, has not suffered any symptoms as yet.
By sharing their story, Elisa and Marco hope to show other families coping with ALD that they are not alone, and to encourage them to reach out for support. If you and your family need support, advice or information, if you have suggestions for therapies for Michele or would like to connect to the family for mutual support, please contact us.
Elisa and her family speak Italian and were supported in telling their story by their friend Roberta, who translated for them. Although UK based, Alex TLC is committed to supporting individuals and families with ALD and AMN around the world, creating a global ALD community.
We also work with ALD organisations around the world and may be able to refer you to more local support. In Italy, for example, those with ALD/AMN and their families can contact Associazione Italiana Adrenoleucodistrofia Onlus (AIALD Onlus).