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.
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.
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.
Men can’tpass the faulty gene to their sons.
Any daughtersof 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.
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.
“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”
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.
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.
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.
8 thoughts on “ALL LIVES MATTER”
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
Really fascinating. As you say it's not something most people will have heard of so really important to share awareness.
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
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
Thank you for reading, and for your comment steph x
Thank you for reading kate, and taking the time to comment really apppreciate it. x
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
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.