Support and Understanding

[tph]

I was so thankful to find this forum on TAM. My 20 year old son was diagnosed with TAM in February 2015. The summer of his Freshman year of High School was when his symptoms started showing themselves. He started weight training for football and began experiencing some pain and weakness. We chalked it up to overworking his muscles and possible "growing pains". The pain continued as well as some weakness then he began to fall. He would be walking and his legs would just give and wouldn't hold him up and he would fall. This was not normal especially for a healthy 14 year old boy. We took him to a local neurologist who conducted some tests, which included nerve conductive testing as well as blood work. The tests came back normal except for his CPK level being extremely high. The neurologist called me and said that the high level of CPK was suggestive of a muscle disease and referred us to Duke Neurology. We traveled back and forth to Duke for 2 years undergoing a biopsy, genetic testing, etc. They really couldn't tell us anything except that he "might have a mitochondrial myopathy" and that he was a medical mystery. As a mom, I was desperately trying to find help for my son. I requested from my sons pediatrician to refer us to another Neurologist for a 2nd opinion. This time we headed south to Wilmington. Another biopsy was done in December 2014. At our follow up appt in February 2015 our "mystery" had a name Tubular Aggregate Myopathy. I was thankful to finally have a diagnosis but saddened to learn that it is very rare with no cure. He is having more "episodes" of weakness and some days can't walk or get up from a seated position. He hurts daily, whether it is a good day or bad day. My son is a 6'0 240lb "healthy looking" young man who had dreamed of becoming a State Trooper. This diagnosis has shattered those dreams and he is currently in college still contemplating on his future and what career path he needs to take. Trying to think ahead not knowing what the future may hold for his health. He often feels alone with TAM and that no one understands. Sorry for the long post but he and I both have so many questions and concerns. He joined this forum tonight as well under the user name NTS. Hopefully he will make some relationships here with people who truly understands what it's like living with TAM.

[Craig Lane]

Hi there TPH,
Welcome to the forum.I think many of us have found solace in the fact that although very rare through the internet we can meet others who understand and share symptoms albeit as a combination and variation of intensity. Some folk have trouble adjusting to the fact that they cannot do all the things they have done and enjoyed in the past. For others, it's the "doom" of a chronically degenerative disorder.
There is hope and solace to be found within the group. Some have worked out acceptably effective pain management programs. Some have found the side effects of drugs to be beneficial. Knowing you are not alone is I have found number one. Finding a good neurologist who is interested and willing to try to help is number two. Accepting you are no longer superman because you have kryptonite in your muscles is number three. Having a good laugh at yourself when things don't go to plan is number one. I know I said something else was number one but I like laughing it makes people think you are up to something.
There are some meds that have worked for some but the thing with TAM is it effects everyone differently. Slight discomfort to one person is screaming agony to another. Frustration is probably the hardest thing for most as we find things we used to do with ease become more and more difficult.
DON'T GIVE UP!!!!! You may not become a state trooper but nothing stopping you practicing law. To my knowledge, strength training will exasperate the issue, but it doesn't mean you have to remain sedentary. Learn your limits (usually by overdoing things) and try to work within then. TAM is not a pain barrier that you can push through.

I hope some of our other members can help give you the support you both need. Don't be afraid to ask questions the sillier the better. Across the members on our forum here we have probably the most experience of TAM in one place. Do read Dawns paper (Nuttysmallholder) The TAM notes she put together are pretty much all you can eat serving of TAM. Might also be worth printing them off for your Doctor, not many of them know much about or have even heard of TAM.
I have tried to keep this as serious and on track as possible as I can see from your posting this is a difficult time. But, this is not my normal disposition I can't help but laugh at myself and a lot of the world in general. I do cry too, but laughter is the best painkiller mood enhancer on the market; only side effect seems to be some folk get offended. We look forward to hearing from both of you in the future it is only by sharing our experiences that we can gain knowledge of this crazy disorder.

[tph]

Thank you for welcoming us in. I read Dawns paper last night and it was the most informative article I've read on TAM. The hard work she put in was much appreciated! When my son got off work last night I was so excited to tell him that I had found a forum with other people who had TAM. He immediately registered and started reading Dawn's paper. We look forward to learning more and corresponding with everyone. You're right, laughter is is a great mood enhancer and good for the soul. On a brighter note Nick bought a jet ski today and is looking forward to many fun times with his friends! Thanks again for this forum! We will be checking in often!

[georger]

Hi TPH, welcome to the forum from me too. I feel for you in your concern for your son and remember my own mother's distress at seeing my difficulty in walking. She was more distressed than I was.

We folk with TAM are very grateful to Craig for this forum because of the contact and sharing of ideas. I don't expect to meet anybody else with TAM. By the way, he is known to some people as Eric the Half a Bee. The variability of TAM that Craig/Eric refers to may be because we are all different plus the different mutated genes found to be responsible. There are at least 3 mutated genes, another one being discovered since the excellent article by Nutty Smallholder. As well as that there are variations in the way these genes are mutated. Most of the serious research is at IGBMC in France. You may be interested to know that I have sent my DNA and my mother's DNA for comparison to IGBMC and I have great hopes for their research.

I think that the best support for folk with TAM is their family and friends and themselves. In part, what I mean by that is that with a chronic condition your relationship with medical folk changes. With an acute condition, you put all your faith in your doctor, he/she diagnosis, prescribes and hopefully that fixes it up. With a chronic condition, it's more of a collaboration or partnership and any doctor who does not recognise this is to be discarded. Not only do TAM folk tend to know more about the disease, but they'll have a very good idea about what helps and what doesn't and exactly how the disease affects them.

I've had symptoms of TAM for about 20 years and what I'm finding is that mostly life is pretty happy and the things that make me happy and sad are the same as for most people. I hope your son is as lucky as I have been. It hasn't all been downhill; there've been two very spectacular reversals. The 1st was from very gentle exercise, building up my endurance over many months, just increasing a little bit every week or whenever it felt comfortable. The 2nd was with verapamil which I still take, though not many others have benefited from it.

Good grief, I do tend to go on. That's more than enough from me for now. Please keep in touch, we'd like to know how you and your son get on and what you find that may help others.

Best wishes.

[georger]

PS There is a thread on this forum "off topic chainsaws" which I hope becomes about all sorts of off topic subjects just to show that TAM does not define us and life goes on despite it. We could even hear a bit about jet skiing.

[tph]

Thank you Georger! It's great to know that there is some research going on in France for TAM. I am hopeful that the DNA you and your mother sent to them will reveal some needed knowledge that will be beneficial to TAM sufferers. Nick does not see his Neurologist again until August unfortunately, but we are going to ask him to start him on Verapamil. He and I actually talked the other night about reading that others were benefiting from some gentle exercise. That definitely makes since to try to keep the muscles stretched as much as possible so that they don't contract and shorten. Thanks for sharing what has helped you and we look forward to learning and sharing experiences. We will definitely check out the "off topic chainsaws" thread and I'm sure you will probably hear some jet ski stories!

[georger]

Hi TPH,
Have you read the Verapamil thread on this forum? Another thread that may be relevant is "Still Kickin leteeters." Don't get your hopes up about it because few people with TAM have tried it and even fewer have benefited from it. I have an odd form of TAM without elevated CKs and very little pain unless I do too much, so what more is very beneficial to me may not help many others. Best wishes.

[leteeters]

Welcome tph thank you for joining in. Take a look at my post on Treatment for Patients with Metabolic Myopathy. This board is a great place to be and is the best source for TAM info. Hang in there.

[tph]

Thank you leteeters! I will definitely read your post.

[juker12]

Hi guys, how do you think, may CBD oil cause real diseases? I am not a doctor and I am afraid to ask about it some1 else...

[Craig Lane]

As CBD oil is not a narcotic maybe the best person to ask is you primary health carer / Doctor They will have better knowledge of your health requirements.

[kotl]

Apr 15, 2019 20:18:41 GMT Craig Lane said:

As CBD oil is not a narcotic maybe the best person to ask is you primary health carer / Doctor They will have better knowledge of your health requirements.

I do not aagree with you, mister. You don`t know much about cbd and telling us that it is narcotic... Check for example premium jane. It is one of the best products on the hemp market and even it may be used by children in minimal doses. I am using it because of my stress and I may say that it is 100% helps and safe for your health!

[georger]

Craig said it was NOT a narcotic. Tell me if I'm wrong, but I suspect the failure to read Craig's post correctly looks like the action of a spammer searching for key words, superficially scanning posts and spamming and moving on to the next victim.

[Craig Lane]

As I quietly edit out the coded links I feel a kind of peace. Much better than getting all hot and bothered because I couldn't be bothered to read the information given carefully enough to be of benefit.

What is with these folk Pete?