Thank you.

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Mike908

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I do not have any questions, but I would have had I not already read all of the awesome, detailed information already provided in many other sub-forums in here, and I just wanted to thank the members of this community for the time they put into this particular forum.

Long story short, I spent ages 20 - 27 trying to figure out what was wrong with my health, as I had progressively worsening physical and mental symptoms, all while trying to push through it all and live a 'normal' life. I saw doctor after doctor, including some of the 'best of the best', none of whom could identify anything wrong with me. Three years ago, right before my 28th birthday, I was diagnosed with an extremely rare and progressive metabolic bone disorder that most DOCTORS have never even heard of, called HPP. For years prior I had been told by doctors, family and friends that I was probably fine, but the whole time I knew it wasn't just in my head (I had already had 4 foot surgeries and was developing hip issues that would later lead to surgery, plus increasingly debilitating fatigue) which is why I can acutely identify with many of the people coming to this forum, struggling desperately and yet to find any answers. For me, the answer had actually been in my blood work since I was 17 years old -- the doctors just never recognized the red flag associated with this disease because they had never heard of this disease in the first place.

I share all of this because, for various reasons, lately I've become suspicious that there is a second illness also occurring within me. Co-morbidities are common amongst the several thousand people who have HPP, and I have been developing symptoms that don't necessarily clearly connect to HPP. I had full EXOME sequencing done at the University of Michigan recently, and they found a "likely pathogenic variant" in the GLE1 gene.

This is where ALS first entered my story, as the writeup from the genetic counselor indicated that, while my specific GLE1 mutation had never been previously reported before, the literature shows that there have been a few individuals found to have disease causing variants in the GLE1 gene with ALS. The geneticist assured me that this statement was NOT an indication that I was developing ALS, and that it isn't even a clear connection between the GLE1 gene and ALS, but she went ahead and referred me to a neurologist at UM so that I can get a full work-up and rule out any neuromuscular disorders.

I have not yet been able to see the neurologist, and had been mostly calm about the whole thing until more recently. The muscle weakness, muscle twitching and gait abnormalities that I've dealt with in the past have all gotten worse, among other things.

Many other places on the Internet that mention ALS, quite frankly, had me starting to think that maybe it was a real possibility.

But reading through the information provided in the stickies in this forum, as well as many of the answers to the other posts in here, has provided a level of detail regarding ALS vs. not ALS that I wasn't able to find anywhere else. And I am very, very grateful for that.

I still very much suspect that I have some type of neuromuscular disease, and am still a bit anxious to see the neurologist, but in the meantime I can now be certain that it is not ALS, and I wanted to thank all of you who spend your time providing information on here to those desperately seeking answers. There is an HPP forum that I belong to, and I can definitely relate to those on both sides here -- pre-diagnosis I have been the person desperately seeking answers, knowing for years that something is wrong....and I have also been the person rolling my eyes at a newbie who thinks they may have HPP, but clearly don't. It typically takes a few deep breaths and some patience before responding to them, so for you all to spend the time that you do on this forum responding to people to put their minds at ease...is pretty incredible.

I wish each and every one of you the best. Sending my love.
 

KarenNWendyn

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HPP = hypophosphatasia?
 

Mike908

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Yep! I have kind of a strange presentation of it so my care team are looking for other possibilities as well. But it's still such a relatively poorly understood disease (most of the research has been done on a particular type of presentation) that all my symptoms may just be HPP.
 
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