My introduction - AMN

[Aaron98]

This is my first post on this forum. I am a 30-year-old male from the Pacific Northwest who was diagnosed with AMN in the summer of 2015. I had been experiencing symptoms throughout my twenties, and my wife, a nurse, finally convinced me to find out what was going on. My grandfather had AMN and passed away at 67 from complications. My mother is a carrier, and has experienced some symptoms, primarily balance issues and leg spasms.

My symptoms include pain in my lower extremities, adrenal insufficiency, balance issues, leg spasms, urinary urgency and frequency, muscle weakness, and fatigue. I am currently able to walk without assistance from a cane, but it has become somewhat more difficult in recent years. I might trip over my own feet or stumble on the stairs at home about once per week, usually catching myself with my hands. I recognize that I will likely need to start using a cane within the next few years, as my ability to walk and balance inevitably become worse.

Recently I have been experiencing a fair amount of pain in my feet and legs, particularly my left foot. It sorts of comes and goes and varies in severity. It sometimes feels like a burning sensation, or a stinging or shocking feeling at other times. I would be interested to hear suggestions for treating this pain. Perhaps massage could be beneficial.

Apart from walking issues and pain, another frustration is urinary issues. I struggle with frequently needing to urinate, particularly at night. I have to set an alarm for midnight, 2:00 am, and 4:00 am so that I can wake up to pee, or I may "have an accident". Fortunately I work in an office, so a restroom is always close by during the day. I am not really interested in botox injections or self-catheterization (both of which, frankly, sound terrible), at least as long as my symptoms are manageable.

The only medication I have taken since my diagnosis is hydrocortisone for adrenal insufficiency. I currently take 20mg in the morning and 10mg in the evening. I have found that I have not felt ill as often since beginning this medication, which is obviously a positive.

One of the frustrations with this disorder/disease is that it manifests itself differently in individuals. Even knowing how it affected my grandfather does not really offer much insight into how it will progress with me. He began using a cane in his mid to late 30s, then a walker and finally a motorized scooter in his 40s. What has helped me greatly since my diagnosis is remembering what a great man my grandfather was, a pillar in his church and community. He certainly did not allow AMN to define who he was as a person, and it is my goal to live my life in the same way.

I have read posts and comments on this forum on occasion over the past few months, and finally decided that it was time to join and introduce myself. I look forward to being in communication with others on this forum from time to time, and hope to lend support and encouragement when I am able.

[wilburlois15]

I am 38 and in a similar situation as you, although without the adrenal insufficiency. All I can say is keep walking! I spent 10 years trying to hide my increasingly poor gait, mostly by becoming less and less active, which probably further worsened my ability to walk. I think it really is a case of use it or lose it, and now I go out daily at least once for 30-60mins and for me it has been both physically and psychologically beneficial.

[bsc78]

Welcome Aaron98! I'm 38 and have many of the same symptoms you are experiencing. If you are interested in meeting other AMN patients and learning more about the disease and its management and are able, consider coming to ALD Connect's Patient Learning Academy in Austin, Texas on Feb. 20. There will be experts there to answer questions and break-out sessions (including a men-only one) to discuss what other patients are doing about their symptoms.

I've been before, I found it helpful to talk to others face-to-face. If you're interested, here are the details: aldconnect.org/patient-lear...

[Aaron98 in reply to bsc78]

Thanks for the encouragement! I am not sure if I will be able to attend the Learning Academy this year. Do you happen to know if this is a yearly event, and if so, where it is being held next year? I have met with one other person who has AMN, a gentleman in his mid-40s from Seattle, and absolutely agree that it is beneficial to connect with others who deal with the disease.

[bsc78 in reply to Aaron98]

Too bad you can't attend. I'll be there. But I understand. They are held at least once a year. This is the first time it is being held in a place other than Boston, MA. There are plans to host them around the country in the future. Stay well.

[COwithAMN Administrator AMN EASIER Volunteer]

Dear Aaron

Let me add my own personal welcome to this forum. I am the administrator of the site, though I have not been as active as I should have been in recent months. I'd also like to welcome all other new members who have joined over the last few months.

I won't comment on your personal symptoms except to say that you are right in observing that they vary from person to person. However, the core symptoms - leg spasticity and weakness, urinary/bowel urgency - are perhaps the commonest things we all deal with from day to day.

I liked the comment that your great grandfather expressed in "not allowing AMN to define who he was as a person" and that you want to adopt the same approach. I applaud your outlook about this and think it is exactly right.

I was diagnosed with AMN about 30 years ago - in my early 40s. So I try to remind people that, at 72, I still am able to function on many levels. I am fortunate in one sense in that I have never had adrenal insufficiency. But I am now only able to move around with the help of canes or a walker (short distances) or my trusty TravelScoot electric scooter (longer distances) which goes in the trunk (boot) of my car. I have all the familiar urinary urgencies (and occasional bowel ones) but find them manageable. So my experience is to live your life as fully as you are able, and use the new technologies to help cope with the familiar problems. For example there are vary good urine capture devices for men such as the Coloplast products (coloplast.com in the USA). I also agree with you about catheters - they inevitably introduce bacteria into the bladder which causes its own problems.

I also strongly recommend finding your own stretching routine. I do my own every day. It's not just our muscles that become stiff, our joints also stiffen up because ligaments and fascia are also affected.

There are many really experienced AMN-ers on this site who can and do add their own observations, but ultimately you have to find what works for you. Good luck and all the best,

Chris

[Aaron98 in reply to COwithAMN]

Thanks for the welcome, Chris. My wife agrees with you about stretching, and I am currently working to find a routine that will work for me. Yesterday morning I woke with terrible stiffness in my right leg, but found that massaging and stretching the muscles throughout the day helped. Today the stiffness is gone. It's frustrating to be unable to predict the day to day variances in pain and soreness that I will experience, but it certainly makes me appreciate the good days.

[brittanyspaniel]

Aaron:

A warm welcome to the forum, although your reason for joining is obviously not something to rejoice about. I live in Palo Alto, CA. I just turned 50, starting showing symptoms at 41 and was diagnosed at 46. Ditto on the symptoms: spastic and stiff gait requiring a cane; and urinary urgency which can make daily life tricky (car trips, long presentations at work, etc.).

We have a wonderful AMN specialist at Stanford: Dr Keith Van Haren. Did you find a good neurologist knowledgeable about the disease where you are (Portland/Seattle area)?

The patient learning academy in Austin TX on Feb 20 would also be a great forum for you to gather a ton of information and useful contacts in one day. After being diagnosed I traveled to France for the annual ELA meeting to learn about the disease! At least Austin TX is closer.

Ben

[Aaron98 in reply to brittanyspaniel]

Ben, thank you for the welcome. My neurologist is fairly knowledgeable about AMN, but he also recommended that I see the Director of the Neuromuscular Diseases Division at the University of Washington School of Medicine. Unfortunately, it has been over six months since I was referred, and they have still been unable to get me in.

[brittanyspaniel in reply to Aaron98]

In case you have not seen this:

youtube.com/watch?v=VnAoWJ5...(Not working as expected?)

[cdp71 in reply to brittanyspaniel]

The individual in this video functions at very high level. I don't think that the exercises shown are realistic for most AMN sufferers or at least they are not for me.

[Blacksheep in reply to Aaron98]

I think there's a top notch guy in Portland Oregon as well.

[StevenSims]

Hi,

I just want to check if you've seen a Urologist? There's medication that can help? I take trospium but want is very important for me is I have to use Catheters, when my urologist took my blood my kidneys showed problems, I then had a urodynamics test and this showed very high pressures in my bladder it was off the chart! The pressures were backing up to my kidneys and I was told unless I catheterise at least 4 times a day my kidneys will die and I'll need dialysis! I've been using them now for nearly 5 years and have no problems! It was not nice at first but you'll get used to it! One good thing is your Endocrinologist will keep check on your bloods! I'm booked in for the Botox procedure on the 1st of March so fingers crossed it will improve things?

Not many of us with AMN suffer pain but I do badly through the winter more and Vitamin D3 eases it, I also use a Actipatch and it makes a difference! Pain medication doesn't work! The only meds I take are Hydrocortisone 10,5 and 5 and Fludrocortisone 50mcg and Trospium for the bladder. With the Hydrocortisone I've been told to take the evening dose no later than about 5pm as the body naturally doesn't produce any after that time! I use a elliptical trainer every day without fail I try to do 30mins I do 2 sets of 15mins it's hard but does make a difference!

All the best

Steve

[monkeybus]

The man in that video is about the same level as me. I really should do more structured exercise.

Regarding urinary urgency, 4-AP fixed that for me. Vitamin C in large doses is a fantastic laxative as well. Since I started my anti oxidants, I've been going every singe day. This is amazing, for me. It is worth it just for that. No constipation=no spasms and lower spasticity.

This ALD event in Texas, I can't go, but I'll go to one next year. Will it be videoed? Or can anyone record the audio and let us all hear?

Take care folks.

[bsc78 in reply to monkeybus]

Unfortunately, the Patient Learning Academy in Austin will not be recorded. But there are a number of helpful webinars on ALD Connect's website. aldconnect.org/webinars.php Hope this helps.