www.fshers.co.uk

my name is Liz and I live in West Sussex with my son Ramone, he is 14 and was diagnosed with fsh in December 08. As you can imagine this was a complete and utter shock to us as he has always been a fit and healthy child and indeed teenager, although looking back there was some scapular winging and facial weakness (we weren,t aware of the implications of this). The first indication of this was when Ramone developed wasting in his thigh and after several visits to our GP we asked to be referred to the hospital where immediately md was suspected. The paediatrician was obviously not aware of fsh as she suspected limb girdle, fsh was confirmed by a blood test.

Since the initial diagnosis, I feel that Ramones condition has worsened very quickly, howeverr we have been told by the neurologist that this is probably due to the fact that he is going through puberty and should hopefully "level out" afterwards, I really hope this is the case. Ramone has involvement with the facial muscles, shoulders, arms, hips, legs and feet, there is also involvement with the heart rhythm. What I would like to ask is what does the involvement with the heart mean, we are waiting to see a cardiologist but due to the hospital losing his referral letter (this is an ongoing theme at the moment, I am always chasing appts., letters, visits, referrals not being made, to the point where I feel like screaming at someone) we have been made to wait longer than was hoped for. Our local paediatrician couldn,t throw any light on this, indeed her exact words were "it is what it says, I,m not a cardiologist", obviously not a good bedside manner me thinks! I am really worried about this side of it and on-one can throw any light on it, we just have to wait for our appt.

Anyway thats us in a nutshell, still in the early raw stages, still trying to get all the relevant help for our son, and really desperate to try and relate to others in the same situation, particularly people who were diagnosed in their teens, or parents of teens who have just been diagnosed, although I do realise that everyone is different in the way that they are affected.

Hope to speak soon
Liz

Hi Liz,
I hope you get some action soon on the cardiac issue. These early days of seeking answers is so frustrating. I look forward to the day when everyone affected by this disease can access someone with expertise in FSHD.

We are still waiting on our molecular test results for Billy (14). Right now our most pressing concern is managing his pain and keeping him in sports. Our neurophysio was not all that familiar with fsh when we began seeing her but she reads the information I give her and she is keen to try things to help Billy even though there is not a lot known about best treatment. If there is not yet the professionals out there who have expertise in fsh I think it helps if you can find professionals who are open to learning about it along with you. My GP is not all that open in this respect, or maybe it's just that he is too busy. The other day he reassured Billy that he will develop big shoulder muscles just like his older brother and I sat there quietly thinking he doesn't know what the heck he's talking about.

cheers,
Triecia

Hi Liz, and welcome

I was diagnosed at 13 after realising I could no longer raise my arms. It was diagnosed as FSH after a muscle biopsy. What I have found over the years is that you have peaks and troughs as I call them. I've gone years with very little decline at all, then a few things seem to happen all at once, then nothing again and so on and I'm now waaaaay past pubity. I can;'t believe I'm admitting that

I have recently been told I have a problem with my heart rhythm and I am at the moment awaiting the results of some tests I've been having. I was wired for sound for 48 hours so hopefully that will have picked up whats going on.

I hope things settle down for you all. I'm sure it's alot to get your heads around but hopefully this site and the people on it will help a litte

Take Care
Traceyanne x

hi

i have a similar story to traceyanne . it's only recently they seemed to have picked up an irregular heart rhythm , but from the lack of urgency i'm not to concerened . it seems that to have an irregular heart rhythm in healthy people is not too unusual.

i know it's easier said than done , but until you have had all the relevant tests done there's no point in worrying too much .

all the best

dan

hi Liz, glad you finally made it to the site. Sorry for the delay but as I've mentioned elsewhere there's been some stuff going on that's taken my attention.

Sorry to hear about the diagnosis for your son, it might not mean much just now but there are worse things that can happen and of all the various kinds of MD this one can turn out to be one of the ones that had the least effect.

Another thing to consider is that society today is a lot better with disabled people. I remember how things where when I was growing up and even then I manged to make a career for myself, got a good education and had a relatively good life. It's only in the past 6 - 7 years that things have changed for me to the point where I can't work, but considering I was diagnosed when I was about 7 years old, and I'm now 43, it's not been the worse life imaginable.

You know where we are if you need to talk.

Again, welcome to the site.

Tommy

I've had a letter off Doctor Quinlivan and in it she states that 5% of people with FSH develope heart rhythm abnormalities. So any symptoms would be inkeeping with this condition. Which will probably mean they will now stop investigating mine.

At least you've had an answer to the problem. With FSH so much goes unexplained sometimes.

Hi Lizb I guess that makes me Liz.a

I was only diagnosed 5 or so years ago after a long time in denial but to be honest I am now happier than I have ever been. Apart from this getting worse but it has been a long slow decline so if there is a bright side that is it and with every deterioration I have coped and just found new ways of doing things. There is a lot of help out there in terms of DLA money etc and Direct Payments for care if the need arise just to make life a bit easier in the longer term.
But as you say this condition varies quite markedly from person to person. All I can say is to keep positive and obviously ask away as there is always someone to help answer questions on here. And don't let this stop your son doing anything he wants to do as there is so much help out there things are definitely getting better and more accessible.

XX Liz