Hi everyone,
I hope it's ok if I join in here; I have been looking for a place like this for some time but other forums I have come across appear to be inactive.

My 14 year old son is in the process of undergoing tests for what we are told is most likely a progressive disease; fsh is the query on referral sheets. We were first alerted to problems last July when Billy told us he could not hold his arms above his head. He has had prominent winging for quite a while but he is very slim and we had attributed it to his body not yet catching up with pubertal growth. In hindsight there have always been issues with trying to fix his swimming stroke and more recently my husband has noticed lack of strength when they have been out kayaking.

The neurophysio assessment has identified facial weakness, particularly eye and mouth area (Billy has always had an issue with his smile but we didn't know it was anything to be concerned about), upper arm weakness and abdominal weakness. The neurologist also mentioned something going on with one of his hips but I can't recall what that was.

Billy is having his muscle biopsy 1st April. They do it under general aneasthetic and he is terrified. He has been coping very well up until now but I think as diagnosis gets closer he is finding it harder to push it to the back of his mind. Our eldest son was born with VCFS, another genetic syndrome; he is intellectually disabled and was recently dx with schizophrenia thanks to some pretty vital missing genes. Billy has some issues with his brother being so different and we are very concerned about how he is going to cope when he learns that he is also different.
He has always been the commedian in our family, very bright and funny - we just want his lovely nature to stay that way. In some ways I think it has been easier for my eldest son even though he has a lot more to deal with he has lived with it all his life. I think it is so cruel to be suddenly confronted with something like this in one's teenage years.

I'm sorry this is such a long post; I have so many questions I want to ask and would particularly like to communicate with other mums who are supporting their kids through FSH and with other people who were also dx during their teens. I've read a lot of the posts and have seen some pretty inspiring people showing a lot of resilience through some pretty tough times. I'd really like to know how we can best support Billy once he is informed of his dx.

Thank you for reading this far.

hi there, i too am going through similar as you. My son ramone was diagnosed with fsh in december 08. He was 14 this january. Like Billy he had prominent winging but i too didnt take much notice of this as he is also a very slim child. He also has a problem with his smile and his eyes, the drs said that there is a weakness there, he also can,t whistle or kiss properly. Ramone has pec weakness and abdominal weakness and problems with his hips and feet. Both of their conditions and the stages that they are at sound very similar. Ramone didnt have to have a biopsy, there is a simple blood test that shows fsh, indeed i understand that a biopsy for fsh is not always the right way to go, however, please do go ahead with it but also ask about the blood test.

Ramone is the youngest of my children, he has 1 brother, 27, and 2 sisters, 23 and 20. He sounds very similar to Billy, he is a real joker and a very, very loving child. Very bright at school, loves his hobbies, tennis, fishing etc. He seems to be taking the news in his stride, i do believe that it is harder for the parents and surrounding family, children do have a wonderful way of coping, perhaps billy is worried more by the fact that he has to have an anaesthetic and maybe talking to the neurologist about the blood test may alleviate that.

Like you say it is extremely hard when you have a child that has been fit and healthy for so many years, to be hit by this but believe me, i am in a very early stage too and initially it felt like my whole world had fallen apart and to be honest in some ways it has but only 3 months later i am coming round to the situation, but probably like yourself you look at your child and think of all their hopes and dreams and in some ways they will still be able to achieve these but in a slightly different way.

Ramone wants to be a dentist, thats all he has ever talked about doing as a career and he is still making his plans, taking his options at school etc., we saw a neurologist only today at Evaline hospital in london and he said that probably as ramone is going through puberty things seem to be happening all at once, but hopefully when he has finished growing, the symptoms should level out and i have to hold on to this as do you, its not all doom and gloom, there are some wonderful strong people that i have come across, mainly on sites like these that give you hope for the future and for your sons future, if you need to chat, just let me know, i dont know what country you are based in, we are in uk, west sussex,

Take care, i,m sure billy will do just fine xx

Hi Liz, thank you so much for replying; it is so reassuring to hear that Ramone is coping with his diagnosis.

We are in Melbourne, Australia; apparently there is a neuromuscular clinic at our Children's Hospital that we will be referred to once the dx is confirmed. I queried the blood test some time back howwever we were told that it is a rather complex test, not readily available because of low demand for it and very pricey (around $600AU). Our neurologist says the blood test is only ever done if the muscle biopsy is inconclusive. Were you also offered the blood test for yourself and Ramone's father?

Billy is our second youngest; he has two older brothers aged 25 and 22, an older sister aged 19 and a younger brother aged 6. At the moment he is showing a preference for working in the arts; he is very creative and I tend to encourage him as it is an interest of mine also. Fortunately my understanding is that FSH wouldn't hold him back from such a career.

Liz is Ramone having any physiotherapy? Billy has a range of exercises prescribed by his physio however she says it is very much an exploratory undertaking to see if it has any effect. Billy does them very dilligently; he has been present when the Drs have said it is a progressive disease that cannot be cured but he still appears hopeful that there will be an exercise that will 'fix' his muscles. I'm pinning my hopes on the future advances of some recent adult stem cell research that came out of NSW.

Once again thank you for responding; it is very reassuring to hear things might level off for a while after puberty.

hi there, ramone wasnt offered the muscle biopsy as i think here in london they feel that the blood test is sufficient, however, the only drawback is that it does take around 3 months to come back with a positive diagnosis. Yes ramone does physio and also hydrotherapy, it is really just to give him a bit more power in the muscles that are still working, as, with his arms he uses other muscles to compensate for the ones that arent working. He is quite reluctant to do his exercises, although we do try and do them daily. The thing that is really important is the stretches, eespecially for the feet as i dont know how billy is but ramone is having problems with the tendons in his feet. He has also been present when the dr. explained the prognosis for the illness but, i feel, that as i am now a single parent and it has been mostly just me and ramone for the past 10 years, he is holding a lot back, maybe in case he upsets me and i in turn seem to be doing the same, however, all i have said to him is that he can talk to me about anything, any worries, anything , but boys will be boys!

We are having genetic testing in june for myself, his father and siblings, however there does not appear to be any history of the disease in either families, although i have an inkling that maybe his paternal grandmother did have the disease, that is just a little niggle that i have however.

The main thing i think is just to keep him going, make sure he does his exercises, hydrotherapy is wonderful and if he likes swimming he should also enjoy that. I make sure ramone still cycles to school, plays tennis etc. even though he can be a bit wobbly. It is a very hard thing to go through as a parent and i can totally understand what you and your family must be going through but with recent developments hopefully they can find something that can make life easier for our sons. I really hope that the biopsy goes well and that billy isnt too worried (easy for us to say), i have asked for ramone to have some counselling as there may be things that he wants to say/ask that he would feel comfortable talking to someone else about, perhaps that would work for billy also.

Please keep in touch and give our love to billy

Hello again,
Billy had his cardiac assessment yesterday; we weren't concerned that they would find anything as it was merely a formality to undergo prior to his general anaesthetic on Wednesday. After the tests the cardiologist said that Billy's heart is functioing at the bottom of the normal range; he said he wouldn't normally be concerned about it but given that Billy has some sort of muscular disease he wants to recall him to monitor his heart again later this year. I'm not too worried; I think he is just being cautious which is fine.

Liz Billy doesn't appear to have any problems with his feet at this stage. The physio thought there was some weakness there but her next exam showed it on the other side, so she doesn't really think there is much of a problem there. He does have some weakness in one of his calves but it doesn't really impact on him in any way.

I think you might be right about Ramone possibly holding things in to protect you; he sounds like a very caring boy very much like Billy. I work as a clinical psychologist with people who are dealing with chronic and terminal illness and I see a lot of family members protecting each other from their worries. I am also looking into counselling for Billy, for some time after the results are in just to give him a space away from home where he can get things off his chest if he wants to - he may not want to go which is fine too.

Given that they are so close in age perhaps Billy and Ramone will be interested in chatting to each other down the track sometime.

Liz I have just worked out Billy and Ramone must share very close birthdays - Billy turned 14 on January 19th.

hi there, sorry don,t know your name yet, yes they do sound very similar, probably due to being the same star sign maybe, ramones birthday is january 23rd, i would hope that maybe they could chat together, even if not about their illness in depth but perhaps about their likes and dislikes and then take it from there, i have told ramone all about billy and his possible diagnosis and he also sends his love and is thinking of him also.

Sorry my oversight - my name is Triecia

I haven't told Billy about Ramone yet. As far as I am aware he doesn't know anything about FSH yet - I know he has been googling about muscle biopsies because he showed me a response from a lady who said childbirth was nothing compared to undergoing a muscle biopsy! Fortunately I was able to point out how unusual her response was compared to the many others who mentioned minor discomfort for a few days.

If and when the dx confirms the drs suspicions I think it will be nice for Billy to hear about Ramone then and to let him know that Ramone has been thinking about him through this process. So thank you for your kind messages. It can be a lonely experience going through a process such as this as you are probably aware; we don't know anyone else who has experienced these symptoms and the forums that I have scoured in my search for answers have all been so quiet. As much as I wouldn't wish this on you and Ramone it is comforting to know we are not alone.

I'm just reflecting on the timing of Ramone's dx; Liz I recall you mentioning that the blood test results took around three months. I'm wondering if you were first alerted to Ramone's symptoms at around the same time we became aware of Billy's? For us it was the 1st August last year. Billy was due to go on camp when he told us he couldn't raise his arms and a teacher had commented that day re how weak his arms were because he could not do handstands. We couldn't get a dr appointment prior to the camp so he went but upon the advice of a physio relative he came home early rather than participating in the overnight trek through the bush with heavy backpacks - and the procession of drs visits commenced the next day.

Our earth feels like a very small place when I reflect on another boy only 4 days younger proceeding along a similar journey on the other side of the world.

hello again, firstly i would like to say that i dont believe that the muscle biopsy is painful, i think, as you say that discomfort would be the best way to describe it, i hope that billy hasnt taken too much to heart what he read about the comparison between that and childbirth, we all know what that,s like.....

Ramone has always been a healthy child, he does however suffer with quite severe migraines, which include vomiting and has always been a skinny lad, however, myself and his father are slim and his siblings are also slim so i didnt really take much notice of that. From a bout the age of 10 ish his arms and legs didn,t really "fill out" and looking back at pictures of ramone at that age, his smile did seem to change and his shoulderblades tended to stick out also but if you aren,t aware of the implications of this, it doesnt really ring any alarm bells does it. In May of last year ramone and myself went on a cruise and on coming back he remarked to me that one of his thighs was larger than the other. I took him to see my gp and saw a locum, who said that it was probably due to hormones etc. and the fact that he was right handed and right footed, the larger thigh being the right one. During the summer months ramone had a job in his friends family,s restaurant and he complained of weakness in his arms but i put that down to a lot of lifting in the kitchen at work. We again went on holiday in August and on coming back i took ramone again to the gp who decided to refer him to a paediatrician re; his leg. He saw her around octoberr and instantly knew there was a problem. Her initial diagnosis was one of the limbgirdle mds. On referral to a neurologist, this was changed to fsh md and this was confirmed by the blood test which i believe was 8/9th december.

Like yourself i have researched and joined websites etc., there hasnt really b een a lot of feedback, i have emailed numerous people, most of which haven,t replied and then i found this website, which seems a lot more userfriendly. Fsh in children is apparently quite rare and this makes it harder i feel to find others in the same situation, i really hope that billy,s op goes well and that he,s up and about in no time and we would be really happy for him to find out about ramone, i really hope they can take some comfort in knowing that there is another little boy out there that can relate to him, i really cant even begin to imagine what is going through their minds right now, all i know is that it is probably the same thoughts.

We will be thinking of you all on 1st April, please let us know how you get on.

liz + ramone

Triecia, sorry if you would like to email me direct my address is barrelizabeth3@aol.com

Thank you Liz, I have sent you an email

Billy's biopsy is not going ahead today. The Children's Hospital called yesterday to say that an emergency had come in so they will reschedule his surgery. Apparently the neurosurgeons do these biopsies as a favour to the neurology dept; they are placed into any available spaces on the neurosurgery list so we have to expect that any emergencies will take priority. My husband and I were a bit disappointed as we want to get this stage over with; however Billy was thrilled to bits with the temporary reprieve - he'd much rather be at school with his mates

We are heading into two weeks of school holidays here; Billy is hoping they don't call him in during this time. It's Autumn over here; we're getting glorious sunny days and he wants to be out and about with his mates.

Liz can I ask you how Ramone responded to his dx in those first few days? Did he tell his friends or has he preferred to keep it to himself?

Posting an update; it might be helpful for others seeking a dx.
My reading of the literature and the forums has been raising some doubts about the advice we have been given re having the muscle biopsy rather than molecular testing, so I decided to look into it further.

I rang Genetic Services and they said we should have been referred to them in the first instance so the diagnostic options can be explained to us whereupon we and our son can make an informed decision and yes they said they can organise molecular testing for us if that is what we decide to proceed with. Unfortunately they also said it will take months to get an appointment. I am feeling quite frustrated at yet another delay as it has been 8 months since we first attended the Dr with our concerns. However we are keen to explore less invasive means of diagnosis if they are available so our GP faxed a referral off yesterday.

We are thinking if the appointment for muscle biopsy is scheduled before we get in to genetic services (as is most likely) we will probably put off the biopsy. From my reading of the literature I am assuming there is no urgency to obtain a dx as there is not a lot that can be done in the way of interventions. Could someone please tell me, am I correct in making that assumption?