23 November 2016


Okay hands up, who here has heard of X linked Adreno-Leuko-Dystrophy? No? 

I thought not! 

Three years ago neither had I, nor any of my family either even though the faulty gene ABCD1 had been in my partners’ family most probably for generations.
Here are some abbreviations you will find throughout this post simply because its easier to read – Adrenoleukodystrophy – (ALD) and Adrenomyleneuropathy – (AMN)
My partner has a very rare genetic condition, which is called X - linked Adrenomyleneuropathy. It is a build up of very long chain fatty acids in the body, which attack the central nervous system, particularly affecting the organs below the waist. 


I started dating Kenny 11 years ago, and I had known him for much longer than that, there was a running joke in my family that he had dodgy ‘wegs’ (legs), which was actually started because Stanley our first born couldn't pronounce his L's, and so we continued it to Kenny and his ‘wegs’, he was a funny walker, he fell often, or tripped up steps and we just thought it was his uniqueness, of which Kenny had in abundance!

In the summer of 2012 I was heavily pregnant with our third child, and Kenny had a fall off of a child's scooter (would you believe) and broke his collarbone. I have always believed that this was a trigger to his rapid decline in health. He was in significant pain, every second of every day, and walking was hard. He was tripping and falling several times a day and his ability to walk was severely compromised.

At first he was provisionally diagnosed with multiple sclerosis. There are a few different levels of this and his diagnosis was Primary progressive MS, which was one level down to the most severe form, I will remember that day along with a few others for the rest of my life. We felt like our world had just came crashing down around us and we had no idea how it was going to be fixed! The thoughts running through our head were incomprehensible. Scared didn't cover it. And I think we cried together that night.

After he had every single test done for confirmation of this diagnosis, lumbar puncture, blood tests, MRI scans, neurological assessments, and they were all sent back as clear we were ecstatic. But we were also in limbo because at this point we knew there was something major going on. Something more serious? We didn't know, but we did know that each medical professional we came across were very worried indeed. And so that rubbed off on us.

After a particularly long wait, some bloods came back which were positive for a build up in VLCFA (very long chain fatty acids) - C22/C26.

He was given another provisional diagnosis of X linked ALD. These results were sent to us in a letter. And so Google helped me understand.
 And also a diagnosis of slowly progressive spastic paraperisis, which is a co-existing condition which describes the pain and feelings he gets when walking also the stiffness and numbing sensation.

I wish now that i never used Google as a tool for information because it took me to the very worst-case scenario and I could have crumbled that day. It said he could be in a completely dependent state within 3-4 years. 
He's going to die? 
No way this could NOT possibly be happening. Death was not on our agenda yet We had just started a family and his company was just taking off, I decided not to tell Kenny what I had read. I decided that we needed to have a diagnosis confirmed and hear the prognosis from a specialist Doctor. Find out the exact details of AMN and ALD

He was formally diagnosed in Oxford and his diagnosis was AMN, Not ALD, The prognosis for these two things is very different indeed. This diagnosis affected our whole family because it was passed down through the X chromosome.


So that meant that it would only have came from Kenny’s mother not father, it also meant that any sons he had (1) would not be affected at all because Kenny would pass his Y chromosome only. Each daughter that he produced (Of which he has three) will be an automatic obligate carrier. This was a huge thing to come to terms with. We couldn't eliminate the faulty gene from our family for decades. What's more is that we already had children before a diagnosis was made. If we had had a diagnosis first then we would have been entitled to IVF treatment to help us have a healthy child who didn't carry the faulty gene. You can imagine the frustration we felt. It was immense. 

I should tell you at this point about the statistics and how it will affect or manifest in any other family members. 
So far this is what we know – see diagram above for a visual explanation.

Men can't pass the faulty gene to their sons.

Any daughters of a male with the faulty gene will be obligate carriers.

If a woman has the faulty gene then each of her children regardless of sex will have a 50% chance of carrying the gene mutation. 

So that means that if any of Kenny’s daughters have children then those children will have a 50% chance of inheriting the X chromosome because women have two X Chromosomes.

Okay, now statistics of how it will affect males and females.

There is no effective treatment as yet for AMN. However, terminal cerebral ALD can be stopped by a bone marrow transplant. All males with the gene must be regularly monitored for symptoms by MRI scan. Once these appear he can have bone marrow transplant which will stop cerebral ALD. Unfortunately, if a male is not aware he has the gene and cerebral symptoms such as behavioural change or coordination problems appear it will be too late for this life saving treatment. Therefore, early identification such as new born screening (ALD Life is currently applying for this in England) is key to preventing this devastating condition.

Males that have Adrenomyleneuropathy AMN normally notice symptoms between the ages of 25-40. And symptoms can vary; others may be affected more or less. It's not known why.
There are drugs that can help with symptoms such as muscle spasm, incontinence etc. There is no treatment for the condition and bone marrow transplant does not affect AMN whereas it will stop ALD.
Sara Hunt the CEO of ALD - Life states that:
“The earliest we know of girls being affected (only by AMN symptoms) is 20s. There are two known cases globally of girls with cerebral ALD it is not clear if these are misdiagnoses or they were unlucky enough that both parents carried the ALD gene"

Some men can go on to develop the ALD version in adulthood which affects the brain and symptoms can be similar to the childhood cerebral version. This is why it's very important for Kenny to have regular MRI scans, to check for any white matter on the brain. (His is clear the moment) 

Girls who are obligate carriers - it is very rare for this condition to affect girls in childhood because they have two copies of the X chromosome. One from mum and one from dad, and so their unaffected X compensates for the affected one.

But it is equally important to say that girls can and have developed symptoms of this condition in childhood, and in fact Lola is being kept a watchful eye over because of this. She's had brain scans and blood tests and we are referred for the 100,000 genomes project
. Lola has been seen by A specialist in metabolic medicine, and he has done a neurological examination on her which has picked up a few issues, they may be related, but they may also be he symptoms of something that we are yet to discover, She has very brisk reflexes in her ankles, knees, and upper limbs, and increased tone in her legs, she also has extra beats of Clonus in her ankles, (Just like Kenny). It is a very worrying and uncertain time for us as a family and I wanted to tell our story, because its one that is very rare, and not spoken enough about as afar as I can find.

I have also created a face book support group for those people who are referred for the 100,000 genomes project support group – if you are taking part please follow this link and request to join More information about the 1000,000 Genomes Project can be found here.

Females usually develop minor symptoms between the ages of 40 to 60 similar to AMN males but some may develop symptoms earlier and become wheelchair bound.
 So far in the family we have Kenny’s mother who is the carrier, Kenny has three daughters who are all obligate carriers. Both of our girls have to have regular checkups at Great Ormond Street Hospital, and 6 monthly Blood tests to check the efficiency of the adrenal glands.
The adrenal glands can be affected with this disease, and if adrenal testing shows any warning markers then they will need hospital treatment as this part of the disease can be fatal. If they are poorly we need to keep a very watchful eye on them in case of adrenal dysfunction.
Sara Hunt also tells us that that majority of males will develop Addison’s Disease (adrenal insufficiency) This is can be treated with tablets, but for some the condition can remain unsteady and cause some ongoing health problems, but can be fatal if not diagnosed.

It’s been a very worrying time for all of the family members, because there isn’t much information or research on this disease and so it’s effectively a wait and see process. I want to try and spread as much awareness as I possibly can on this horrendous disease and help to raise money for more research and investigations so that hopefully one day there may be medicines to help eradicate this disease, or a potential cure. That is way off In the future I understand but we need your help. Please help me raise awareness of this terrible disease any one of us could end up in a position where we are struggling to come to terms with a diagnosis just like this and those people need to be reached, because just like me, they are most probably finding it very difficult to find any information at all. 

Spread the word that ALD – Lives Matter!!

Credit is given to Sara Hunt, the CEO of ALD LIFE – To read Sara’s Story timeline of Alex's story please follow this link It is one of the most heartbreaking stories I think I have ever read in my life. The way that the system has failed this gorgeous family is unbelievable. I am sat here speechless at the amount of basic things that they had to fight for just for access to a life that was normal for them. I am sorry Sara, and I want to apologize on behalf of all of those systems that failed you and your family. Stay strong Sara.

To help me raise money for ALD - Life please follow this link to my Just Giving page. All money will go to the charity where they will use it to fund more research into treatments options.

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  1. What a gorgeous family you have. Such a lot to deal with, but you're strong and attacking it in the right way by trying to spread awareness and information. Wishing you loads of luck (and support!) for the future x

    1. Thank you for reading, and for your comment steph x

  2. Really fascinating. As you say it's not something most people will have heard of so really important to share awareness.

    1. Thank you for reading kate, and taking the time to comment really apppreciate it. x

  3. My family is also affected by this, with myself being a carrier, my 17yr old son being affected also having Addisons and my 18yr old daughter being a carrier. Very very overwhelming I also Google for weeks, it totally consumed me so I had to disconnect from the internet, as it took me to a dark place �� so I totally know how you feel, all the best for the future xx from me all the way from NEW Zealand

  4. I also have a family affected by this, myself being a carrier, my 17yr old son being affected also having Addisons and my 18yr old Daughter also comfirmed to be a carrier, along with my 2 brothers being affected and 1 sister being a carrier and then also their children affected/carriers, it has rippled through our family. I also like you Googled and the worst thing that I could have done, it totally consumed me and took me to a very dark place, so I knew I had to stop as it took over my life 😢 so I know and understand what you will be going through, all the best from me here in little New Zealand xxx

    1. Thank you Lisa, its so sad isn't it, i wish all of your family all the luck in the world. Do you follow my facebook page id love to keep in contact with you and hear more about your family. xx

  5. Hi Jodie,

    Thank you for sharing your story. I found your video post on youtube, and followed the link to your blog. You are so strong and so brave, and I admire your courage and resilience for your entire family. I wish I had even an ounce of your strength right now. My brother is 42 years old and was recently diagnosed with XALD/AMN, and my mom and I are so devastated and feel so lost. We are totally consumed with this and having great difficulties coping with our emotions. My brother's only chance for survival is to do the bone marrow transplant, and of course we are going to do it, but we are so scared of the risks. So if you are willing to, please share how your husband and nephew are doing now...I hope well. Please continue to stay strong and being an inspiration to others.