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Anyone know of a muscle disorder Congenital Fiber Type Disproportion

(5 Posts)
Mummymida Wed 06-Nov-13 13:56:21

Hi All,

My little one has CFTD. Anyone out there have kids with the same? I would love to chat to some mums!

Thanks in advance smile

Not me but a friend of mine..her daughter has CFTD. She was slow to develop physically and is very very thin (at one point a gastro tube was suggested to boost her but she was a teen and refused!) but she has just graduated from a top university and is now working in a very good job abroad!

She does have to be careful of her health and she will always be thin and weak but she has managed a very independent life so farsmile

ventilatormum Fri 15-Nov-13 18:30:33

Hello!
I am the mother of a teenager with a disorder which is either this or something v v similar.
How did you get the diagnosis? it was hard for anyone to decide exactly what my dd's condition was and only after two or three muscle biopsies did they put a best guess name on her condition. (this, or nemaline myopathy, are most likely)
How old is your child?
Do tell me more about your little one and I will happily give you more info about mine.
I don't always look at this board but will daily now to see if you reply.
And do not worry! (easier said than done, I know ...)

Mummy987 Fri 22-Nov-13 17:35:20

Hi ventilatormum

So lovely to hear from you!

My boy is 8 months old. He had a muscle biopsy which picked it up. He was born breech and very floppy. He had a weak suck swallow so he was tube fed. I wished I had pushed breast feeding more but we were so shocked by everything we allowed the dr's to lead us. That's changed as I think we know more about the condition then they do!

He swallow is so weak he can't swallow his own secretions well. Did your dd have the same issue.

Thank God my son is progressing and getting stronger but his swallow is still weak and he had suffered collapsed lungs quite a few times due to secretions.

How has your dd progressed? I would love to hear more because the future is scary for me right now.

There is a FB page for CFTD, it's really supportive and informative!

ventilatormum Mon 25-Nov-13 18:49:09

Hello!
I bet the future is scary, but my best advice to you is just focus on the day as each one comes - none of us, even with healthy, normal children, knows what is round the corner, so just enjoy every milestone your son reaches and you will find it much easier.
My dd (my second, oldest has no problems of this type) was breech, I had a c section, all seemed fine, till 12 weeks old she was v v ill, emergency admission, no one knew what was wrong, then they said she had an underlying condition. I had just been noticing she was not holding her head up but had breast fed fine, and everything else seemed pretty much as dd1.
So then started a massive diagnostic period. She was floppy (hypotonic). Her physical milestones were late or non existent (she never rolled or sat up herself but once sat, could stay and play etc). She was clearly bright so t b h once loads of possibles had been discounted and no diagnosis reached, we just got on with life.
Swallow was fine, secretions not an issue.
Muscle biopsies suggested either cftd or something close to nemaline myopathy, but nothing was ever finally diagnosed
But unfortunately at about 2 she started to keep getting pneumonias/lung collapses, often v serious.
Meanwhile everything but the physical side was progressing normally - talking, etc etc.
I won't bore you with the details but now at 15 she is at normal mainstream school and doing 10 GCSEs.
Given your son is still so tiny I would say:
Make sure you get physio referral v quickly and lots of stuff to practise at home.
Ask if Portage operates in your area: my dd had it from v tiny and I think it was v useful
Get signed up for DLA asap - get a social worker on your side and start getting the financial aid he is eligible for
My dd had a statement of educational need from nursery onwards - I am not sure how the system works now but it is never too early to get help
Have you got a community nurse from your local hospital? if not, get one on side. Really helps if you have to have frequent admissions; oh, also, we got direct admission sorted so did not have to go to a and e etc, I just phoned to say we were coming in if she was ill. didn't even bother with GP as he knew we knew her best.
ok that's it for now, will answer any other qs you want but my page won't go down any further!!
Just seen he is tube fed. My dd was too for a while, then a gastrostomy button, but now she eats normally and it was removed when she was about 12 - nothing is set in stone for ever!
Have you got suction machine etc at home? also masses of non invasive ventilation stuff out there if he needs help to breathe - we have had all of that and indeed dd is now full time on a ventilator, but STILL AT MAINSTREAM SCHOOL and planning to go to uni so do not panic!
Have you contacted Muscular Dystrophy Campaign? think they would be v helpful to you too.

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