Question

[jk2024]

Hello all. New to the forum. First off, thank you for taking the time to read my post.
In a nutshell, I have been trying to figure out my physical issues for years. I am now 57. Started with neuropathy in feet, then hands almost 10 years ago. Slow progression. I am a life-long fitness enthusiast and have had a myriad of muscle issues that have forced me to stop skiing, biking, hiking and golfing over the past 6 years or so. Until recently, walked 4 miles a day. Now forced to stop walking due to recent foot decline/pain.

Had brain mri 4 years ago and was normal. Over 2 years ago I started with substantial muscle wasting in my thighs. My PC immediately ran me through scans and other tests to rule out cancer. Waited 6 months to get into to see neuro. EMG abnormal. Muscle biopsy showed minor myopathic changes but inconclusive. Gene sequencing showed variant of unknown significance on gene indicative of a type of MD. Further testing on the muscle sample ruled this out as a likely diagnosis.

Wasting has recently hit my arms, primarily both forearms, wrists and my hands. About a month ago rapid progression of weakness in both hands. Not a lot of muscle left in wrists, fingers and hand. Loss of dexterity in 2 small fingers of both hands, and loss of grip strength and awkward use of the smaller fingers. Forearms and hands very fatigued, weak, and sore all the time. Similar fate in my feet, with pinky toes very week and not following the other toes when I move them.

It has now been almost 2 1/2 years since muscle wasting was first noticed (although started a couple years earlier in hindsight) and still no diagnosis. Seems like I’m wasting away very quickly all of a sudden and in rapid decline. Starting to get strange soreness in my upper back and lower neck area now.

If this is ALS, would it be normal to hit a point where such a rapid decline would kick in? I have called the Mayo for 2d opinion workup but would not be able to get me in for at least a year. Any suggestions on where to go for another, quicker opinion ? Perhaps an als clinic? Willing to travel. Other comments also welcomed and appreciated. My neuro seems too busy and and only get to see him every 6-8 months. I split time between MA and FL. Neuros in these locations booking too far out.

Again, Thank you for your time.

 

[Nikki J]

Everywhere has long waiting lists I think. Massachusetts has some of the greatest neurologists and Florida does too. I don’t know where your first opinion was but Mgh , Brigham, BI, Tufts , UMass, Lahey. Florida is huge but Mayo UF , USF, Holy Cross, u Miami. There are more I am sure. Ask to be on cancel lists

 

[lgelb]

A myopathy is much more likely than ALS from what you have said.

Here is a neuromuscular center map.

ALS Clinics/Programs in US and Canada

Includes facilities certified by the ALSA and/or MDA, VA facilities, and other known programs. For more information and to ask for feedback on options in your area, see alsforums.com.

www.easymapmaker.com

 

[jk2024]

Seemingly still progressing at a rapid pace. Muscle wasting in my leg and foot makes it painful to walk. Can no longer walk barefoot on hard surfaces. Went to podiatrist who noted much muscle loss in various parts of foot/ankle as well as a loss of padding on ball of foot and heel. The foot is now looking deformed and same thing is starting in the other foot. Wrist and hands also continue to digress. Muscle and strength on outside of forearm, wrists and outside fingers most effected (numbness, tingling, etc.) and has now move to muscles underneath the thumbs. Something very noticeable lately is the fact that any type of pressure to my finger tips hurts. Pushing microwave buttons, opening cabinets or trying to cut food with fingertips on utensils has become moderately painful. Now try and avoid finger tip contact with anything. Finger tips also very sensitive to hot water or touching a hot mug. Or course, the fingers have also lost muscle and padding. Is this fingertip development a normal progression of ALS? Sorry to bother, but cannot seem to find answers from visits with neuro every 8 months to a year and things appear to be declining quickly. Any input or advice greatly appreciated.

 

[Nikki J]

My sister had hand onset with weakness and severe atrophy followed. She never complained of this type of pain. I now have hand weakness and don’t get it either.

You need to call/ message your neuro. They should have input. If they aren’t an academic medical center they should advocate for you to be seen at one.

 

[jk2024]

Thanks for the reply, Nikki. My neuro is not good at responding to messaging. Very surprising given that I am already at such a medical center. That is why I am posting questions here searching for answers. Unfortunately, getting seen somewhere else at this point will be many months away. Thanks again.

 

[Nikki J]

Does your clinic have an np or pa? If so make an appointment with them. If they see what you are reporting they can help move things along. Alternatively are you messaging through a portal? If you aren’t start if you can. They can’t just delete they have to say what they did. Portal messages are usually answered by nurses but they have their doctor’s ear. Be concise and specific