I have noticed that we have had several new members join our forum in recent months, which is of course wonderful! Some of these members have written detailed introductory posts about their diagnosis and experiences with ALD/AMN, but others only post infrequently, and we don't really know anything about their story. I thought it would be useful to have a single post dedicated solely to sharing some basic details about each of our histories with AMN. I think this could be a useful reference tool, especially as we continue to add new members.
As much as possible, please try to limit this post to these personal details, and if you have a specific question for another member regarding a detail that they share, please write a new post to discuss this. Below are the details that I think would be most helpful. I will respond with my own to begin. Of course, all of this is completely voluntary, and you are under no obligation to share any detail about your personal life. I would like to keep this very basic, but if there are other details that you feel should be added, please let me know, and I can edit this post accordingly.
Family history or de novo mutation: Extensive family history (maternal grandfather, great-uncle, mother, two aunts, sister, daughter with gene mutation causing AMN; male second cousin, deceased, with childhood cerebral ALD; male first cousin, asymptomatic; male first cousin, Addison's-only).
Age at which earliest symptom was present: Undiagnosed adrenal insufficiency in teens, other symptoms in late teens.
Age at diagnosis: 29
Year of diagnosis: 2015
Earliest symptom: My earliest symptoms were adrenal insufficiency, urinary problems, and balance issues.
Current symptoms: Severe neuropathic pain in feet and legs, balance issues, spasticity, adrenal insufficiency, myoclonic jerks in legs, urinary urgency and frequency problems, bowel issues, sensory problems in lower extremities, sexual sensation issues, physical and mental (cognitive) fatigue.
Good idea Aaron, I often click on people’s info to look to see where they are from or what they said in their first post. Need to check all my info first though, to be able to do this myself
AMN only because they have not given female symptomatic carriers their own. diagnosis. Doctors are very confused when they Google it and see discussion of men with Addison's etc. I broke my hip last year and they couldn't figure out how I had AMN and was female.
No Addison's
I do not have record of mutation
Brother died of Shilder's Disease before i was born. Parents were not told if it was known then it was genetic. Mother diagnosed then retracted with MS. My son had difficulties since birth with vomiting dehydration hospitalizations. Finally diagnosed with Addison's at age 7 then AMN When I questioned and demanded to be seen at Hopkins he was diagnosed ALD by Dr. Moser and we were immediately referred to Dr. Krivit. BMT 1991 brother donor 6/6 Successful. Also have a daughter carrier who juat gave birth to son who opted into pilot screening in MA. Results of baby negative for ALD. I have an affected sister. 2 brothers who tested negative one who passed at age 9. Untested
My symptoms began at age 21. Pins and needles in feet No doctor took it seriously.
Age 30 1991 while at Univ of MN with son being transplanted his doctor explained to me why I was having difficulty walking Obviously I had been tested but attention was on my son and I knew nothing of carrier's difficulties. My mother's difficulties then became clear and finally I knew what was the cause.
Pins and needles in feet. Legs giving out/falling. Tripping falling
Current age 59 Dizziness. Arms/hands esp fingertips numb Dropping lightweight things. They seem to float through fingers. Picking up objects. Hand tremors. handwriting horrible. Need to concentrate and form each letter slowly. Typing the same. Have made numerous corrections doing this.Hands/legs and feet extremely cold. So cold painful. That has been for years.Heart spasms. Pain/spasticity legs. From knee s down feel like they weigh 300 pounds. Toe drop. drag. Trip over them. Of late leg/ankle/foot swelling. Last night my legs hurt like crazy even the right one that started this all but lost most feeling years ago. Tight from left butt all the way down to toes and I was in tears. I am used to pain every day from this as well as athritis joints, no cartilage left in thumb joint from forearm crutch, shoulder from fall, butt from fall, hip/leg from fall break. This pain/swelling is new. Balance has been an issue for years but now can't use 2 hands to pull up pants. Must always be holding onto something and must have light. Urinary problems for years. Have been wearing a pad for years. I was working in the school using forearm crutch . Have had AFOs since mid 30s They are great for standing but I do better walking in stocking feet as I can't clear show and end up stubbing toe or tripping. Bought power chair but still had to stand as chair did not fit in between desks in classrooms. Finally agreed with doctors and had to stop working. Home now and days are long, lonely and difficult. Depression has always been a part of me but now it is taking over. I struggle to continue the house chores what I could do all in one day I have to portion out through the week. I tire easily and lay down more often than i like to admit. I do things I shouldn't and expend more energy to do things that would be easy for my husband to do but he works all day and I don't want him doing 2 jobs. I wish I could give in but I know if i do I will lose what i have left. Doctors have told me straight up I should not be walking even with walker and say it is because i have been and continue to be stubborn. I do have to be pushed in a wheelchair to go out of the house anywhere.
I can't even pretend to walk out and about.Before the hip break I could push a shopping carriage and trudge along. That is done.
More than anyone wanted to know but I feel information needs to be out there for doctors and carriers. I am hoping one day diagnosis won't take years ad treatment will begin to help affected sooner and change as needs change
Hi Barbara, I cannot believe how similar our lives are! I’m 62, bit older than you. My brother died, age 7, from Shilders as it was back then. My parents were told to have another child. My son was diagnosed in 1997 with Childhood ALD, died age 9. I was told by one of his consultants that I had symptoms after watching me walk. I have identical symptoms except for the pins and needles. Heavy legs, myclonic jerks, arthritis and swelling of my ankles. Cold legs and feet, I even wear bed socks in the height of summer. I was a medical secretary but had to give up my job as the NHS would not allow me to work because of the danger to myself. The pain is unbareable at times. I use bilateral crutches in and around the house and a power chair when out. I also suffer from depression but have found small amounts of happiness with the birth of my granddaughter who is not affected (PGD). If you need to talk anytime let me know
Also have a congenital aortic defect/ vascular ring that was repaired and migraines with auras
Live in the USA in Maryland
Adopted as an infant so no known family history
Diagnosed (tested at my request after lots of my own research) in 2014 after 2 years of misdiagnosis
No Addison’s but endo agreed to give me a stress dose of steroids at the time of my hysterectomy surgery last year and I felt so much better and healed easily from that one.
I can’t find the paper with my specific mutation right now
Symptoms began around age 38ish...with difficulty jogging, tripping, falling. Hyperactive reflexes. No pain at that time. Paresthesias in my legs and feet...vibrating feelings (kept trying to answer a cell phone that wasn’t ringing!), feet felt “numb” and super cold. Urinary urgency.
Now, chronic back and leg pain (does seem to fluctuate in severity) deep gnawing bone type pain, spasms, paresthesia level around T10 down to feet, painfully icy cold feet (but not to touch),
Coordination worsened, falls, often limp and don’t realize it, can’t jump, arthritis, injured knees and ankles.
: Oldest brother passed away of cerebral ALD last year at age 39. I have another brother who is show symptoms of cerebral ALD, but is reluctant to get testing and is starting with the family doctor this year. (He is a handful to say the least..haha)
Age at which earliest symptom was present:
30
Age at diagnosis:
31
Year of diagnosis:
2016
Earliest symptom:
Gait and walking issues.
Current symptoms:
Walking issues, although with current leg braces I can walk around with fairly no issues. Weight gain currently on the MIN-102 trial.
Preferred name: Steve (but I’ve been called worse)
Gender: Male
Age: 56
Country or geographic location: Western California, United States
Diagnosis: AMN
Addison's Disease: (yes or no): Yes
Genetic mutation signature: (if known):
c.1866-10G>A variant (rs398123108) p.Pro623fs*
Family history or de novo mutation: Family history includes brother (AMN) and half-brother believed to have died from ALD.
Note: My mother arrived here in the U.S. as a refugee of war (Soviet occupation). I have a half-sister as well, however, I never got to know my mother nor my family history in Latvia.
Age at which earliest symptom was present: 17 when Addison’s Disease was diagnosed after brother (19) was diagnosed after a neart fatal Addisonian crisis.
Age at diagnosis: 37
Year of diagnosis: 1999
Earliest symptom: Addison’s; fatigue; tripping and unable to lift legs when running.
Current symptoms: Adrenal insufficiency; spasticity; neuropathy including neuropathic pain on soles of feet; urinary frequency; balance issues with falls (including occasional knee buckling); fatigue; testicular failure; ED ; and myoclonic foot jerks.
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