CMT Central

Hi, My son is 15 and was diagnosed with cmt 1 about 3 years ago. We live near Portsmouth.Why he was not diagnosed sooner, I don't know. He had operations when he was younger but as they didn't know it was cmt the ops did nothing to help.
He has slowly got worse over the last few years and had his last op in May. The hospital care was awful and the aftercare has been even worse. His foot has changed shape so much since the op that we are now unable to find shoes to fit - no more named shoes like his mates, is very hard for a boy of 15!. So.... 5 weeks ago, orthotics measured him for shoes and yesterday at long last they called us as they were unsure what we were waiting for - couldn't remember making his new splint or measuring him for the shoes. TOTAL incompetence. Does nobody in the nhs realise what life is like with NO shoes, at 15, for 5 weeks? I'm absolutely disgusted with it all. We haven't heard from the OT in 18mths - is this normal? also nothing from the physio since the op.
To top it all, after 2 years of my complaining, the school agreed that he needs a statement to fund a full time scribe (as did the special advisory teacher) All seemed to be going well with this until I received a letter earlier this week to say that although it's clear he has special educational needs, the assessment is not the way forward. After many calls, they have agreed to have a meeting to review - I will not be left to watch my son fail his gcses next year because he can't write or use a computer for long. It's not his fault he has cmt, yet he is being punished for it.
Is it just us that experiences such problems? Would love to hear from others.
Sorry to rant, but I just get so frustrated!!!!!

Annette.

Hi Annette.. A very warm welcome to the forum

Your poor, poor son It must be so hard for him and of course the rest of the family.

Is his CMT Inherited? Or is he a "random mutation" as they call it. I am adopted so whilst I know my CMT is inherited from my birth mother, I do not have any FAMILY with CMT within my adoptive family.

YOU ARE NOT ALONE!

You can have a bit of a wait for Shoes... I was fitted and measured for shoes on 30th July and have not got them yet... My appointment to collect them is on 9th September. My AFOs will then be going back for more adjustments and no doubt my shoes will need adjusting before I can take them so yes a wait is not unusual.

I also have MASSIVE problems with shoes I can just about get my feet into Cosyfeet extra wide and extra deep shoes if I don't wear AFOs and go up a shoe size. I cannot get any shoes to fit both my feet and the AFOs at the same time except Crocs!. That is obviously not ideal as the crocs are not stable enough.

Regarding the Occupational Therapist, I too haven't heard from mine in well over 18 months now despite being told I would get an appointment to see them once a year. I haven't bothered chasing mine up though as I didn't need anything at the time.

Can't help at all with the school problems, but I hope you get it sorted... when I was doing my GCSEs and then onto college etc... I struggled writing so missed alot when I had to take notes and couldn't write as fast in the exams. I KNOW that I could have got even better grades than I did if I could have written faster/better.

Anyway, again, welcome to the forum.... do keep posting and if you have any questions, just ask

Hi Annette .

Poor lad. Keep nagging the hospital. Complain at the top and also the school. dont waste your time niggling at the lower lot go to the top.

Hi, Thanks for the replies, It's so nice to talk to people who understand!!. Lee inherited cmt from his Dad. We split up when Lee was one and I knew there was a problem with feet in his family, but didn't know what. I asked and asked but he refused to tell me the name, so I was unable to tell the hospital. He then went on to have other children with other partners. I went to school with the partner after me and managed to track her down last year as she'd also had a son with him. Her son is 11 and was diagnosed around the same time as my Lee. Lee's paternal grandfather has cmt also.
Reference the problem's we're having, I think I will firstly write to the hospital complaints board and secondly consult my local MP. Our neurologist is very good and has written many letters of complaints on our behalf, it's a shame we only see her twice a year!!

hi Annette and welcome

have you contacted the SENCO and the Headteacher, at Lee's school directly? (after re-reading your post i expect that you already have) i really think you should keep fighting to get him his scribe and his statement, i'd suggest that it was discrimination, at whichever level of burocracy that turned you down, keep fighting, and possibly think about the pubicity route? (or at least threaten it). oh and get you're local counciler on side about this too. i've always been told that if you write, you should try to follow up the letter with a phone call about a week later, i always think that letters can be ignored, so keep a copy of it too, and any return corrispondance.).

Hi Annette, sorry to hear of yours and Lee's problems. Welcome to the forum!

Annette who is your neurologist Mine is based at southampton and is very nice and approachable.

If you are not satisfied you can go somewhere else for Lee's care. Just ask your Gp.

Hi, Our neurologist is in portsmouth, she's called Dr Freeman, she seems to be the only person we've seen who knows about cmt. I will contact my local mp next week with my complaints. I know there is a lot of disturbances at QA with everyone having to move into the new building, but that shouldn't affect the level of care. Lee had his op in the old building, the staff on the ward were dreadful, I accept they were short staffed but for a start Lee shouldn't have been put on a ward with very young children who were only in for a day (and thought it was fun to pull on the bottle of blood that was coming from Lees foot). When he eventually felt up to eating, it took them over an hour and a half to make him a slice of toast, it was awful. During the night Lee was in severe pain and kept calling for the nurse, he could hear them all having a cup of tea!!, eventually one came and he told her she should be concentrating on his pain instead of gossiping with her mates - she didn't take kindly to this and disappeared without giving him painkillers!!!After the op they put him in a back slab. The surgeon told me he would be non weight bearing for 3 weeks then back to the hospital for a weight bearing cast. But when the physio came round the next day she was trying to get him to weight bear, so of course I argued, then a doctor came and said no he has to weight bear - very confusing until the back slab started to fall apart. When I took him to the plaster room 4 days later they went mad and said everyone knows you do NOT weight bear on a back slab!!!!. Does this seem normal? I know when he had his last op (before this one) 8 years ago, at Southampton general, the care on the ward was fantastic, the downside was that we didn't know that it was cmt then!
Am just wondering if anyone has got any private medical insurance? and if so, who with? Am considering it for Lee.

Welcome to the forum!

My English is not good enough to describe my feeling when reading your introduction... nurse leaving a child without medicine in a hospital in the middle of the night – does public allow that kind of violence to happen??? There should be information following that “nurse” for the rest of her life, so that the next employers will be warned about the behaviour... I am so strict about this because in Finland were 2 cases in recent years that a nurse killed people in hospital (disabled, old people, at least other had robed several elderly people and earlier, while working in a supermarket, stolen goods for 30.000,- Euros or something like that)... it was a big scandal in Finland that the records of medical persons were not informed further (as there was a clear procedure what to do for the sensitive information regarding judged persons).

But please, be careful when complaining – see that you have good relationship with the persons who share their time with your child when you are not there – teacher, nurse, physiotherapist, psyc. etc... there are enough things you need to fight for your son anyway...

Also, seriously discuss with you son about provocative behaviour – that is something he needs to learn while soon he is more and more responsible about himself (I am straggling here also with teen age HNPP, but only 11 years old).

All the best for both of you!
Elina

Hi Annette and welcome to the forum.

I am so sorry to hear of your problems concerning the NHS. Your poor son must be feeling dreadful. I agree with Jackie try to get to the top so that your concerns are addressed.

I am sending you so that you know there are people who understand and care.

Hello Annette & welcome to this great forum. I am sorry to hear of your problems, I can only reiterate what the others have said. You will get support on here from people who understand what you are goping through

Hi everyone, Thanks for all the advice and support, I really appreciate it.
Just to update you, the orthotist called again yesterday - as I suspected Lee's shoes hadn't even been ordered, they'd forgotten, so the last 5 weeks of waiting have been for nothing. No cance they'll be here for the start of school now

Hi Annette & welcome

Sadly I have to say that your experiences are of no surprise to me. Will is my eldest son, he is 5 and has inherited CMT 1a from my husband. Between him and my middle son who is 4 and has glue ear I am about tearing my hair out with our local NHS. Every dept who wants to see you again but doesn't give you an appointment there and then you end up chasing up - or trying to, I've recently discovered that all of our NHS clinics have changed their phone numbers without notifyng us .

As far as orthotics go, Will recently got a new pair of Piedro boots. This took several months as the first pair arrived and were two sizes too small, the second pair were too large and finally the third pair fit. We do have some fantastic professionals that we see but we certainly have our fair share of bad experiences under our belts.

Oh, and don't even get me started on school! It's taken me the first 12mths to convince myself that it's them at fault and not me being paranoid, am planning on getting tougher come next week!

Gemma x