Sharing Our Community Members’ Stories 🦓💙

For Rare Disease Day this year the focus is on raising awareness of the key three themes: Misdiagnosis, Treatment Inequality and Isolation. We asked our community members to share their story – choosing a focus of their story by exploring a challenge them or their loved one has faced around one of the key themes.

We will be sharing a new story each day throughout the week leading up to Rare Disease Day – read their stories below:

Alex’s Story

Alex, son of Sara Hunt (founder and CEO of Alex TLC), story highlights one of the themes for Rare Disease Day, Misdiagnosis. The challenge of misdiagnosis continues to be a challenge faced by many of our community members. Read his story: Alex’s Story

Matthew’s Story

It’s been almost five years since I was diagnosed with AMN. So much has happened since then yet it feels like only yesterday… like a lifetime’s worth of memories compressed into the time it takes to blink your eyes. To say a terminal diagnosis has wide-ranging implications would be an understatement. For me, personally, everything changed when I opened up the envelope to discover a letter from my specialist at the time, clinically telling me I had this condition. I fought against it for so long; partly because I was too stubborn to accept I needed more help but also because I was terrified that what I had planned for the future was now nothing more than fairy dust. Everything suffered as a result of that outlook and it cost me dearly.

When I started to adapt how I approached things, alongside changes to medication and proper counselling, I realised how wrong I’d been and how different things can be. Learning to put your pride to one side is not an easy task but it’s made me a better person and Dad. It’s a process… this isn’t some fairy-tale story where everything’s okay in the end but that doesn’t mean life with a disability has to be bereft of joy and love, either. If I could go back in time and give myself some advice, it would be: it’s okay to grieve the life you had before but don’t dawdle for long… it won’t accomplish anything. Be patient. Love yourself for who you are. Remember it doesn’t just affect you. Don’t rebuff others’ help – and perhaps, most importantly, don’t let a diagnosis get in the way of the things you want to achieve.

NB: I chose this photo from my own collection; on a purely personal level, its location helps me to reminisce on all of the things I’ve learnt since diagnosis, during an incredibly formative and happy time. On a visual, deeper level the tree represents the patient and the rain is the sorrow that a terminal diagnosis can cause; the tree starts bending and bowing from the weight of the downpour but it withstands it for its roots are deep.

Rachael and Family’s Story

Alfie (9) was suspected ASD and ADHD since aged 4. After working with speech therapists, being diagnosed with DLD and attending a SALT unit at school, he began to regress, his handwriting and understanding suffering the most. A CT scan showed an abnormality on Alfie’s brain. We were taken to Alder Hey Hospital where Alfie had an MRI scan, this and his past history gave his neurologist the idea that Alfie had cerebral ALD. Our world shattered, as parents, hearing that your child was so poorly with a high likelihood treatment wouldn’t be an option destroyed us. In the days following Alfie’s brothers and parents had blood tests confirming that mum was a carrier and his two brothers also had the gene for ALD. All 3 boys suffer with adrenal insufficiency and are steroid dependant. Within 2 months of diagnosis, Alfie had lost his mobility, a month later his speech had been lost and he was fitted with a PEG to feed and medicate him. He is now totally dependant. Noah (4) has MRI scans every 3 months and presents as ADHD and William (12) has yearly MRI scans, both have BMT donors ready in the event of cerebral changes. Following on from the boys diagnosis, we discovered Alfie’s uncle aged 41 had the ALD gene and adrenal insufficiency and that his maternal grandmother is a carrier. It has blown us away that a rare condition such as this runs so deep through our family and has never before been detected. Watching your children struggle, each with their own battle is heartbreaking, the not knowing if Alfie’s siblings will begin to have cerebral symptoms is unbearable. We pray that one day newborn screening will be passed and other families won’t have to watch their child deteriorate as we are. At the moment Alfie is a cheeky 9 year old who loves jokes, sonic the hedgehog and spending time with his family. We are fortunate enough to have an amazing medical and healthcare team who ensure he is always comfortable and getting the most out of each day.

Gill’s Story

Hi…my name is Gill Parker and my husband and I live in France with our son who was diagnosed with AMN 6 years ago. He is 40 years old. The diagnosis came as a complete shock. However, my brother was diagnosed with Schilders disease in 1966 when he was 11 and he died in 1977. We have since learnt that this disease and ALD are linked. I am a carrier of ALD.

My husband and I are having difficulty coping with our son who has lost the use of his legs and is consequently angry. He is almost housebound although he lives separately in an apartment in our house with his two dogs. He uses a wheelchair and now cannot drive. He can cook for himself and has an adapted bathroom so that he can shower himself.

Writing this is difficult as you know.

Trusting that the research into genetic disorders will be successful in the future.

We would like to thank ALEX for their tremendous support.

Wishing the best to all concerned.

Karen’s Story

Karen’s story highlights one of the themes for Rare Disease Day, Misdiagnosis. The leukodystrophy journey of her son, Alexander, demonstrates the challenge of misdiagnosis faced by many of our community members. Read her story: Karen’s Story

Fiona and Bronwen’s Story

Isolation for me is that feeling you get when you’re in a room full of people and not one of them can relate to your situation. This is something which mum and I both experience in different ways.

My mum has always been a shy person, preferring the company of animals to people, but she has always wanted a close friend to chat to. This was always hard for mum when she was well, possibly due to undiagnosed autism, which has a high prevalence in our family. Unfortunately due to her leukodystrophy (ALSP/HDLS) she now has aphasia and finds it very difficult to converse with people she meets, this makes forming connections even harder. I try to explain to people that mum has dementia which affects her thinking and communication, but because this isn’t the classic dementia most people have experience with, people still struggle to understand her predicament. I think there is a barrier when you have a rare disease, of people simply not being able to relate the condition to anything within their own experience and therefore there is a disconnect, which is nobody’s fault but adds to that feeling of loneliness. Nearly every day I hear my mum say ‘they don’t understand me’ and it is taking its toll on her mental health. Even something like talking therapy, that would usually be a valuable tool for anyone with low mood, is more difficult to arrange for someone who struggles to verbalise what is on the inside. She had to stop driving and working due to her cognitive problems and eventually had to give up her volunteering role at a local cat sanctuary because they could no longer accommodate her needs. Her world has become small. Mum has regular speech therapy sessions and recently cried during her appointment as she was scared people would forget her. It is heart-breaking to watch someone you love become so lonely because of a disease which is totally out of their control.

I am lucky in that I have a supportive partner and a handful of very close friends who are always at the end of the phone if I am having a difficult day. However, as much as they try to understand my situation, all our lives are moving in such different directions that I sometimes feel like they’re on a ship sailing to their destination, and I’m on a rowboat getting carried away by the current. I’m in my mid thirties, have 2 chronic health conditions of my own, no children, unmarried, a carer, all with the knowledge that I have a 50% chance of inheriting the same life limiting condition as my mum and aunt. I feel an utter urgency to live life to the full, but this is always coupled with the huge responsibility of care giving for someone with a very complex and unpredictable disease, and the unshakable fatigue which now seems to be my default state. A lot of the time I am simply too tired to arrange social meet ups, but this only contributes to the feeling I sometimes get, of not really being a full person anymore. I know that sounds strange, but it’s the best way I can describe it.

We’re now 2 years into our leukodystrophy journey and I intend to take active steps to ease the isolation we’ve both been feeling. For one thing, I’ve enrolled us in a local dementia singing group once a month. It’s a safe space for those with cognitive difficulties and their carers – and we both enjoy a sing song. We’re a little nervous for our first session next month, but I think it will be so good for us to get out and meet people with similar challenges. We’re also attending Alex TLC’s community weekend in April, and are very much looking forward to hopefully meeting some people who we can really connect with. Just the thought of not having to explain mum’s condition is a huge weight off my shoulders.

Michael’s Story

Misdiagnosis

On Christmas eve 2015, after a lot of MRI scans, lumber punctures, very long fatty acid tests, nerve conduction studies & EMG tests, my neurologist told me I has Multiple Sclerosis (MS). I spent Christmas day feeling a little empty, but at least my illness had a name. My neurologist said he was going to continue testing me throughout the first quarter of 2016. Then, on 16^th May 2016, I was called in to see him and he finally told me I had “x-linked Adreno Leuko Dystrophy. I asked him to write it down. This is the note.

Treatment Inequality

It has been said that many GPs will never have heard of ALD in a lifetime of practice. I feel this can lead to inequal treatment. I am trying to raise awareness of ALD but nearly every time no-one recognizes what I have. Other well-known diseases seem to have very high-profile advertising campaigns and support services available.

Isolation

I often feel very isolated. No-one knows how this feels. When people see my crutches, they think I have a broken ankle. I feel lonely and anxious a lot. I don’t have a guardian angel or someone I can talk to or a person who even understands what I am going through. Not even my family really know what this is like and how hard it can be. They don’t understand why I fall over all the time, why I am so very tired and have poor concentration and memory.