My name is Zach. Addison's was confirmed 4 days ago and AMN was confirmed (from a VLCFA test) 2 days ago.
Edit: And I'm in Lawrence, KS, USA.
Edit edit: And I'm 28
There's no family history of AMN. I was diagnosed with ADHD when I was 8 and autism spectrum disorder when I was 11, both of which ALD is commonly misdiagnosed as. When I was 12, a brain MRI was done, which showed some very small focal lesions. The diagnostic radiologist wrote it off as "doubtful clinical significance".
The first time I noticed clonus was in April of 2017, 16 months ago, while I was riding my bike. I attributed it to restless leg syndrome. Over the next few months, people at work would comment on how I was limping, though there was no pain and I did not see what they were talking about. Maybe my ankle injury from 8 years ago was getting worse? My mother, a therapist, recommended that I start wearing an ankle brace.
A few hours after we got the brace, she noticed my legs shake as I got up off the floor. "I didn't know you had clonus." My dad, a physician, was also there and did the clonus test on me. "Yep, that's clonus." We all shrugged and went back to dealing with the ankle brace.
A few months later, I went to see an orthopedic doctor, in case they had some idea about my ankle. During the appointment, while he was checking out my ankle, the clonus kicked in. He stopped what he was doing. "Are you aware that you have clonus?" He sent he home from the appointment with no further plan for treatment because there was no pain in my ankle but advised that, if the clonus did not stop within the next few weeks, I should see a neurologist.
2 months later, enter neurologist. He told me something was wrong with my spinal cord, and his differential diagnosis was a tumor inside the spinal cord, a tumor right outside of it pressing in, multiple sclerosis, or maybe just compression of the spinal cord (Surfer's myelopathy). The spine MRI he ordered showed nothing. The brain MRI that followed showed some smallish lesions. Nothing much, but enough for him to refer me to an MS specialist.
The MS neurologist said the brain MRI did not look like MS all but ordered a lumbar puncture to rule it out. He also mentioned that if it is not MS, maybe it is a leukodystrophy like ALD or a hereditary spastic paraplegia. The lumbar puncture was normal, of course.
My dad was a real hero at this point. He caught wind that ALD is on the table and asked the MS neurologist if he would order a VLCFA lab. The neuro said "no". Instead, still with the goal of testing for AMN, my dad went to a geneticist colleague, who recommended HSP and peroxisomal gene panels. A few weeks later, they reported that my ABCD1 gene is a variant, though previously undocumented, so they could not say for sure whether the variant is pathogenic. Within the next few weeks, VLCFA labwork (and ACTH + cortisol for Addison's) confirmed that it is.
Next, I guess my family members will get ABCD1 checked, starting with my mother. None of this feels real yet. As far as AMN goes, I only have clonus and leg spasticity so far, and my job as a software developer is more or less unaffected. I feel pretty fortunate that AMN has been diagnosed while those are my only symptoms. The Addison's is completely untreated right now; I have no idea if I'll feel better once my cortisol is normal.
Also, I like Tetris
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Hi Zach I do not know how old you are but with me it started as a slight limp with my left foot and aged 31 I walked 100 miles for charity but it seamed to get a little worse every 2 to 3 years and I carried on working till I was 50 now at 57 I cannot walk with out crutches but everybody is differ with AMN so I wish you the best for the future.
Welcome to the forum, Zach. There is lots of good information on here, and of course we are happy to answer any questions you might have. Can I ask your age?
You mentioned that your Addison's is currently untreated. This worries me. You need to get on corticosteroids immediately. I didn't take this seriously enough when I was first diagnosed with Addison's secondary to AMN, and the doctor gave me a real wake-up call by stating, "No, you don't understand. If you don't get on these meds, you will die. Maybe not today, maybe not tomorrow, but you will." Please insist on getting started on hydrocortisone and fludrocortisone.
This is sadly a long and often difficult journey, but we're here for you.
>You mentioned that your Addison's is currently untreated. This worries me. You need to get on corticosteroids immediately.
That is good to know. The endocrinologist appointment is still about a month out. I have asked someone to reach out to their office to see if my neurologist should prescribe a glucocorticoid and mineralocorticoid in the meantime.
Hi tetris, welcome. In my case, we’re all a bit different, treating my Addison’s reduced my symptoms and I gained strength. At least for a while, so please see an endocrinologist and get treatment. I started noticing symptoms at about 30, people asking me why I limped, and then I woke up one morning and my big toes were numb. I knew something serious was wrong but I didn’t get diagnosed until I was 37, first with Addison and then AMN. In my long delay before treatment I became very weak and the neuro problems advanced quickly. You have a good head start, stay on top of it. I’m 67 now, still plugging along.
>In my case, we’re all a bit different, treating my Addison’s reduced my symptoms and I gained strength. At least for a while, so please see an endocrinologist and get treatment.
Will do. Hopefully my neurologist will prescribe something before the first endocrinologist appointment, because it is still about 1 month out.
You write with great clarity about your diagnosis and condition. You're an informed patient!
I am 52-years-old and live in Palo Alto, and symptomatic for 10 years and diagnosed in 2011.
Please make sure you attend the ALD Connect annual meeting in Philadelphia Nov 2-3 if you can. aldconnect.org
- Adrenal issues: you could be borderline Addisonian which means you need to be monitored but don't need to start taking daily hydrocortisone right away. Hopefully your endo knows the links between our disease and adrenal function and can make an informed call on your specific profile.
- Essential to have a healthy lifestyle: sleep, diet, and lots of exercise (Pilates, yin-yang yoga, weights, PT/rehab) to maintain core strength, balance, flexibility, and motor function.
- Important to get your attending neurologist in touch with the specialists (Florian Eichler in Boston, Keith Van Haren at Stanford, Ali Fatemi in Baltimore) to get updated on latest standard-of-care and clinical studies.
Please reach out at benlenail@gmail.com if you have any questions.
Ben, very useful information that I, myself, copied for reference. All these years and I never had my neuro consult with AMN specialists. I always had been the one to research and convey most recent findings. Also copied your healthy lifestyle recommendation to include balance training and yin-yang yoga!
First off, I grew up in Overland Park and attended KU from 1980-1984. I know Lawence and love that town. I live in Dallas but my Mom, Dad, and brother live in Leawood.
Your diagnosis is very similar to mine. I jogged and occasionally started falling. My pace running became more difficult to maintain. For 14 months, neurologists at UTSW in Dallas made guesses on ALS, tumors, MS, Parkenson's, and other things. This was in 1994.
A complete fluke led my doctor to AMN. Dr Hugo Moser was a leading resercher from Johns Hopkins. He came to Dallas to give a lecture. My doctor had a patient cancel an appointent and on a whim, attended the lecture. He called me that day. He did a VLCFA test and a skin punch,Mayo confirmed it.
Family testing for those that could have it and be impacted is important. Peripheral family members not so much. My mom is 85 and has neuropathy but so do most seniors in their 80's but she has to have it to give it to me. My sister did not have kids and would only have a 50/50 shot at having it. She was not tested. My 3 brothers are all colorblind, so no testing is required.
My daughter is a carrier, when she has kids she will have to sort for females to avoid kids with ALD.
I was diagnosed at 33. I am now 56. My MRI's for brain and spine have remained clear but the perihperal nerves to my legs are impacted. I went from walking, to a cane, to arm crutches, to a walker, to a wheelchair.
I have had no adrenal impact and have yearly testing.
But that is me. It is different for all of us. Dr Moser told me he has seen little kids not make it and old men dancing at their kids wedding.
It is a rare condition and most doctors have little knowledge.
Here are the things key:
Fitness-stay active. Walk, ride your bike, use gym machines, swim, lift weights
Weight- avoid adding lots of pounds, it works against you
Medication-question it all. Don't load up on every offered pill. Some are a blessing and some are a hindrence
Doctors-find ones that are willing to listen not just prescribe. I have a GP and neurologist willing to make my visits be 30-60 minutes long. It allows us to talk and learn from each other the best path. Remember, treatment is dealing with symptoms until a cure is found.
The most important thing to remember is this is not an endpoint. Believe me. I am in Telecom and technology. I worked in stressful jobs with employers that were caring. I am semi retired now because of financial position not disease related.
We have 2 kids. My daughter was 2 when I was diagnosed and my son was born 3 years later. Both have said that they never saw me as disabled but only dad. My daughter is in medical school and my son is studying to be a Doctor of Physical Therapy.
Stay positive. Allow others to know what you need and allow them to offer support. Avoid vanity. I refused canes and things because I did not want to look old. My vanity resulted in broken legs and a broken back when I tripped and fell. A strong family and friend network helps to keep a positive outlook.
I am in a wheelchair but can still stand with a walker. I work out in the gym lifting weights 4 times a week and that includes my legs. I bought a Nustep for cardio at the house. I swim in our pool with the dog all the time. I go out on my own to shop and other things. We just bought lake property and are building a house. I am out there rolling in the dirt and drawing plans all the time. The property has a pretty steep hill but I get around. I use a manual wheelchair to stay strong.
It is scary at first. I went through that for a few years because there was no information in the early 1990's. I found Chris Ogden who started this group on a random board. This was in the early days of the internet.
Now, the internet is full of stuff, some real and some not so real. It is best not to spend lots of time looking for answers from random places.
Finally, let me know if you want to chat. I get back to that Kansas a couple of times a year. I should be up for 10 days or so around Thanksgiving. I would love an excuse to drive to Lawrence.
Hi Zach - wanted to also welcome you to this site. I agree with others on here stressing the importance of getting your adrenals in balance with hydrocortisone.
I am 42 and was diagnosed at 18 while my whole family was tested. I started having symptoms around 30 with loss of coordination/balance and the clonus like shaking with my feet/legs.
Now, I walk with a cane 100% of the time unless I'm at home I use an electric scooter.
Stay active, stay positive and let me know if I can answer any questions you have.
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