Leukodystrophies are a devastating group of conditions that can affect men, women, and children of all ages, backgrounds, and ethnicities. It doesn’t discriminate and affects people from all walks of life.
Our ‘Life with leukodystrophy’ page is dedicated to sharing the journeys of individuals and families affected by leukodystrophy. With an aim to shine a light on the far-reaching impact of leukodystrophy and the challenges faced by our community members, in their own words.
Cheryl lives with progressive adult onset dominant autosomal leukodystrophy
“My name is Cheryl, 34 and live in Plymouth, I live with progressive adult onset dominant autosomal leukodystrophy (white matter disease) i had a hospital appointment regarding something else, sent me a follow-up letter and on it said adult onset autosomal dominant leukodystrophy which was a huge shock as neurologist never told me, it was only my next appointment that I asked questions.
I also had a genetic panel test which came back good results but the neurologist showed me my scan and its affected my brain at the front and back , one part can affect my memory and the other my sight.”
Estera’s daughter, Olivia, lives with Aicardi-Goutières syndrome (AGS)
The first time we heard that Olivia has Leukodystrophy – AGS, our entire world shattered. We had never even heard of this diagnosis before that day — and suddenly, our lives changed forever. The pain of hearing those words is something no parent can ever be prepared for. Accepting it was one of the hardest things we’ve ever had to do.
Watching our precious little girl struggle — not being able to control her head, her body, the simplest movements — it breaks our hearts every single day. Yet, even through all of this, Olivia’s laughter still fills our home with light. Her smile, her spirit, and her strength give us hope and remind us to treasure every single moment.
We don’t know what the future holds for her, or for us, and that uncertainty can be terrifying. But what we do know is that we will keep loving her fiercely, celebrating every small victory, and making each day as beautiful and full of joy as she deserves.
Dude lives with 4H leukodystrophy
Our Boy, Our Warrior
For so long we were told, “He’s just a late developer, he’ll catch up.” On April 26th, 2022, our world shattered. That was the day our beautiful boy was diagnosed with 4H Leukodystrophy—a cruel, rare brain disease that slowly strips children of their abilities to walk, talk, eat, and even smile. There is no cure. No roadmap. Just heartbreak.
We cried, we broke, and then we rose. If this disease was going to fight our son, then we would fight harder. We built him a home gym, do daily therapy, swimming, trampoline sessions, red light therapy, oxygen chamber, games to strengthen his brain. He wears a special suit under his clothes to steady his movements. Every day, we push to keep him as strong as possible—because he deserves that chance.
Meaghan lives with 4H leukodystrophy
Meaghan is 10 years old and has 4H Leukodystrophy! Leukodystrophy has affected not only Meaghan, but us as a family by the way it restricts our girl from being able to do all things she would like to do and things other kids her age can do.
Despite all challenges Meaghan is faced with daily, she is strong, independent, and always willing to try! She loves to sing and be a goofy ball!
Even though we don’t know what her (our) future holds we cherish each and every day thankful and blessed!
Liyana lives with mitochondrial leukodystrophy
Leukodystrophy has affected us in a variety of ways, ranging from our child completing all of her milestones to suffering unexpected seizures that last 30 minutes. It has been a terrifying journey that has severely impacted Liyana’s vision. Her optic nerves have both been affected because of repeated seizures.
Liyana began losing her balance in February this year, and she was unable to walk or stand on her own. A repeat MRI scan revealed that her condition had worsened. This caused a lot of stress and worry, but we never gave up, and after four months, she started taking her steps again, though she still has balance issues and struggles to walk for a long period of time.
Alex TLC has been helpful to us by sharing the experiences of others and letting us know that many families are experiencing similar problems and are also looking for answers and a cure. We also appreciate Karen’s assistance in filling out her DLA paperwork.
Catrin’s daughter, Eva Rae, lives with metachromatic leukodystrophy (MLD)
My daughter Eva Rae was diagnosed with this heartbreaking and devastating disease in June 2023 at just 18 months old – metachromatic leukodystrophy. Before this she was a happy, healthy and thriving little girl who was hitting all her milestones and loved to sing and dance.
Once diagnosed it wasn’t long before she lost all her physical abilities and could no longer talk to us anymore, she can no longer walk or talk and underwent surgery to have a PEG fitted as her swallow has become so unsafe. Eva suffers from spasms that can only be controlled under medication daily to make her as comfortable as possible. Lastly Eva has been diagnosed as visually impaired too. Eva is totally dependent on myself for all of her needs.
With the support of palliative care, physios, occupational therapies etc it’s taken the ease of worrying about day to day life and just taking care of our precious daughter and giving her the life she should have and making memories that will stay with us forever.
ALEX LTC was the best place to start on this journey and reading other familys stories.
Louise’s son, Nico, lives with Aicardi-Goutières syndrome (AGS) type 9
Nico was diagnosed with AGS after early signs of infantile spasms, global developmental delay, and regression. Brain scans showed calcification on the white matter, and we faced a long 18-month wait for genetic confirmation. The uncertainty was overwhelming, and as a family we are still processing and learning to adapt to the daily challenges. Despite everything, Nico is a loved, happy, and smiley boy who brings us so much joy.
Alex TLC has been an important source of support, offering understanding, information, and connection with other families going through similar journeys. Knowing we are not alone has made a big difference.
Georgia’s son, Myles, lives with 4H leukodystrophy
Myles is an only child, he was diagnosed with 4H Leukodystrophy/ POLR3-related age 3 yet was symptomatic since birth.
He failed all newborn hearing tests and was officially diagnosed with severe-profound bilateral MIXED hearing loss – conductive and sensorineural. The baseline loss is severe but when affected with glue ear this become profound, total deafness. He was born with a dislocated left hip (confirmed on xray to be DDH developmental dysplasia of the hip) talipees, clinodactyly AND was born with SIX teeth. Then age 1 came severe global developmental delay diagnosis and I noticed his dentition was unusual. He had knocked his front teeth out through falling and these never came back even today age 7. He has a severe case of hypodontia and suffers profoundly with grinding and pain.
Uniquely- Myles spasticity element of Leukodystrophy is only Moderate however his Ataxia, is profound. He has permanent 24/7 reliance on a medical helmet because he falls over from both W-sitting position and crawling/bunny hopping resulting in banging his head and also black eyes. He only has crawling mobility and is not allowed a walking frame. He enjoys being in his standing frame albeit his time is limited in there.
Stacey’s son, Albie, lives with Aicardi-Goutières syndrome (AGS)
In 2023, when Albie was 4 months old, we sadly were told he had a form of Leukodystrophy, we were heartbroken! This diagnosis then led us into a world of clinical appointments, home visits, medicines to try. We knew we needed to ask questions, but didn’t know what. We then found Alex TLC who are now a big part of our journey.
2023 was spent being angry at the world, questioning why us, why Albie! We then spent 2024 embracing this life as special needs parents. There were a few ups and downs and new medicines brought in.
But now here in 2025, Albie is thriving in his own unique way and growing lovely. The photo of him as a baby was the day after we found out something was wrong, and then you have the most recent photos of him and just how much better he looks with medicines & therapies.
This will always be a journey of highs, lows, laughter and frustration. But Albie and his strength, laughter and smiles gets us through this heartbreaking journey.
Ally’s daughters, Nala and Teddi, live with metachromatic leukodystrophy (MLD)
Both my daughters have MLD, Nala was found too late for treatment, but Teddi was lucky enough to be eligible.
Nala has continued to loose her abilities and functions, but we try to make as many happy memories as possible with her and give her all the experiences we can!
Teddi is absolutely thriving!! Yesterday she had her annual MRI done, now we just wait nervously for the results.
Hayley’s son, Josh, lives with 4H leukodystrophy
Our son josh was diagnosed in 2023 with 4h leukodystrophy polr3b.
After 6 years of waiting for a diagnosis- we finally got it and that day completely changed our lives – the utter heartbreak we feel daily – the unimaginable pain and knowing there is no cure or treatment.
We have been lucky on this journey with support from our families and the alex tlc who are amazing charity supporting families like ourselves
Kellie lives with adrenomyeloneuropathy (AMN). Her son, Kynan, lives with adrenoleukodystrophy (ALD)
Kynan was diagnosed at 8
Given 2 years to live he is now 11
2 major seizures and 2 not bad ones. Legs ache, in a nappy full time. Dribbling. memory loss and vision not good.
I’m his mum Kellie, I have AMN which is causes lots of issues in my legs bladder and spine, very heartbreaking story.
Michael lives with adult cerebral adrenoleukodystrophy and adrenomyeloneuropathy (cALD)
2015 was the year I was diagnosed with cALD. I immediately contacted ALD Life (now Alex TLC), where Sara assured me I was not alone. She told me about stem cell treatment. I pursued this option with my neurologist, but no donor could be found. I had graduated the year before from the University of Glasgow and thought all was well.
A year later – on holiday in Stornoway – I was trying to get to grips with my diagnosis. I had lesion in my brain at this stage. My gait was staggered, and my optic nerves were very faint, with my vision drastically impaired.
By 2019 I was in a wheelchair, but still very much enjoying a full life. I live at home with my parents in Lanark, where I have many friends. The last three months of 2025 have been a rollercoaster with three stays in hospital. Fristly, I had sepsis, and was treated successfully within two weeks. However, at the beginning of June I needed an operation on my knee. The orthopaedic surgeons of NHS Lanarkshire were wonderful, and I am now back home after 7 weeks in hospital. I am really strong despite this leukodystrophy.
Sarah’s husband lives with Alexander Disease
Leukodystrophy, for us, has meant a narrowing of our world. Beyond just the physical and mental impact on my husband; our entire way of life has had to change. Nothing can be last-minute or, conversely, planned too far ahead of time; as his physical abilities change on a daily or even hourly basis.
Until you are in the situation of needing to use a wheelchair or scooter, you just don’t realise how limiting it is and how many places are suddenly out of bounds. The world and our society is not set up to cater for people with mobility issues – you can’t just decide to go to the theatre or a restaurant or on holiday; it requires hours of internet research, emails and phone calls and, even then, whether you can find the information you need is fairly pot luck.
That’s just the practical and nothing about the mental and emotional impact of watching someone you love degenerate with no way to help them.
Sophie lives with vanishing white matter disease (VWM)
It took 30 years before we finally received a diagnosis of adult onset Vanishing White Matter disease for my daughter Sophie,now 50 . In 2005 ,our genetic samples were sent to the Netherlands to Prof M. Van der Knapp. who confirmed the diagnosis.
Sophie had suffered increasing mental and mobility difficulties after a misdiagnosed early childhood illness from which she recovered. She had no major problems whilst growing up and stayed at school until she was 18 when she suffered periods of mental illness which was put down wrongly to depression. Her mobility then started to be a problem and she was under investigation at King’s College Hospital (KCH).
In 2005 she had a major fit and it was then that KCH sent our genetic material to The Netherlands.
Sophie now is unable to walk or look after herself and lives at home with me.She takes about 25 pills a day but is usually happy and we make the best of life.She loves her 5year old nephew.
We knew nothing about AlexTLC until this year and are delighted to know that they are there to support us.
Christie’s son, Noah, lives with Acardi-Goutieres Syndrome (AGS)
My son Noah has Acardi-Goutieres Syndrome (AGS). At 5 weeks old Noah started having seizures, which was initial thought to be caused by meningitis. However Noah’s difficulties continued. Noah started showing a significant development delay; he was unable to sit or hold his head up, and was not reaching out for objects or toys. Noah also has high muscle tone, and was suffering from painful episodes of dystonia. After numerous MRIs, EEGs, a lumbar puncture and multiple blood tests, genetic tests concluded that Noah has AGS.
Noah has started on anti seizure medication and a muscle relaxant and is currently showing signs of progress. We started weaning at 8 months, and Noah has done really well. He finished his first whole pouch last week! We have also started physio and are starting to get the equipment we need to support Noah.
As a family we are adjusting to a different future with Noah than we initially thought, but his condition has taught us to enjoy each day and as many positives as we can. While we aren’t celebrating the traditional milestones, we have smaller wins of our own.
Jennifer’s son lives with X-linked adrenoleukodystrophy
My son is 6 years old when he was diagnosed of a disease that hard to understand and even to spell. At first, I thought it was only a simple sickness that easy to cure. But, after two weeks , when I saw seizures attacked of my son, I thought its all end.
A kid that can play a basketball, riding in a bicycle, now, is a bed bound and need full support for his living. As long as God gives my son to me, I will do all my best to love and give cares to him..
Ruth lost her son, Ruairí to X-linked cerebral adrenoleukodystrophy
My gorgeous boy Ruairí was diagnosed in 2019, aged 6. Heartbreaking doesn’t even do it justice. I don’t think there is any word that will ever explain the magnitude of what lay ahead. He was still in school and playing sports. To be told there is no cure to save his life , was and continues to feel “too big” to comprehend.
Ruairí a bright, energetic and happy boy. But this condition took everything from him in such a short space of time. It took his smile, his voice, his laughter so quickly. It was relentless. Ruairí faced daily challenges.
My older son was also diagnosed with ALD. While we grappled with Ruairí’s decline, Fionn had to get MRI’S every 6 months. In 2023, we travelled to Manchester for a BMT. Fionn is now 2 years post transplant, and is really well.
Alex TLC have been and continue to support us on this journey. They offer help, guidance, advocacy. They understand the sheer and utter devastation that surrounds ALD. I am so grateful to have them to turn to.
My beautiful Ruairí was courageous, strong and tenacious. Ruairí passed away in our arms on the 29th June 2022.
Rachael’s son, Alfie, lives with childhood cerebral adrenoleukodystrophy (CCALD)
Alfie was diagnosed with CCALD in Dec 2021, followed by myself, William and Noah being confirmed to have the gene. Within 2 months Alfie had lost his mobility, by 3 months his speech had gone and he was being peg fed. All 3 boys began steroid replacement and the new normal began. Hospital appointments, MRI scans, blood tests. The days were filled with tears, heartbreak, grief and guilt.
Alex TLC have given us a family, understanding and acceptance. They have been our voice when we were not heard, celebrated the triumphs and consoled the tears.
Adrenoleukodystrophy destroyed our world, we went from having 3 beautiful, healthy boys to a future filled will uncertainty and grief. Today we make every day count, every smile and laugh cherished. I wouldn’t wish this on anyone, but as parents we’ve learned a lot about ourselves and never to sweat the small stuff or take anything for granted.
We know whatever happens, Alex and all the families are right there beside us holding us up or cheering us on! Thank You all, we look forward to seeing you at the next community weekend xx
John lives with adrenoleukodystrophy (ALD)
I am 62 years old, was diagnosed in 1992 when I was 29 my brother also who was 32 my younger sister who was a carrier.my 2 older sisters are also carriers.
My brother died roughly 20 years ago of the condition after being in a nursing home for 10 years. My own journey has been different. After I was diagnosed I continued my lifestyle at the time, very sporty very drinks nothing can harm me.
The condition started to creep up on me over the next decade, my balance was first to be affected and had to give up sport, then my bladder, eventually having a bladder redirection, then my bowel which I now manually evacuate.
I had to give up work 8 years ago, I was using 2 sticks at that point and I was falling and hurting myself. I was in my 31st year with the company.
Life now is I use a walker, wheelchair and sticks in our bungalow. When I leave the house it is in a mobility scooter or the car which my wife drives. I met my wife 41 years ago and we have been married 36 years.
Elliot lives with adrenoleukodystrophy (ALD)
“Symptoms started to occur when I lost a certain level of sight loss when I was 11 where doctors did not know the cause, until I went through an MRI scan which found white matter issues on the brain. I was later diagnosed with an adrenal insufficiency (c. 2014) due to me experiencing episodes of tiredness and in 2015 , I was fully diagnosed with ALD which changed my life forever. Doctors helped, and to this day help me with my condition and its symptoms.”
