Dear Faith

I am writing to you to tell you all about my daughter Sophie Victoria Tiedman.

Sophie was born at 41 weeks gestation and was put into Special Care 8 hours later with poor feeding and secretions building.  Sophie spent a week in there and we were told that she had picked up an infection from me during pregnancy.

After taking Sophie home we were back and forth to the hospital only to be told that I was an anxious first time mother.  At the grand age of 5 months Sophie developed pneumonia and was seriously ill and spent 4 weeks in hospital.  Eventually the doctors had to listen to us and luckily for us we were assigned a great Paediatrician who then over a period of time and in stages deduced that Sophie has some sort of muscle wasting disease.  As this is not her specialist field we were then referred to Guys Hospital in London who performed a EMG test and a muscle biopsy.  Two weeks after Sophie's first birthday we were told that Sophie has Minicore/Multicore Myopathy.

As I am sure you can imagine, despite being warned we were not expecting this as no-one else on either side has ever had any sort of myopathy or illness for that matter.  Whilst all this was going on Sophie was back and forth to hospital each month with chest infections/viruses and asthma.  Also at three months of age Sophie had developed a very severe "C" curvature scoliosis. 

Sophie's early life has been spent in and out of hospital but despite all of this she is nearly always smiling and making us laugh with her wicked sense of humour.  Sophie is non-verbal and uses Makaton sign language and cannot eat anything orally because of the risk of aspiration.  At the age of 2 Sophie had a gastrostomy button inserted together with a "Nissens Fundoplication" to stop reflux.  This has worked really well and now she has a nice covering of flesh unlike before. 

Sophie very rarely has to go into hospital these days as she is on a low dose antibiotic but much more of a concern these days is her scoliosis.  Last summer she was put into plaster for 6 months to stabilise it.  But looking at her latest x-ray it looks as if we may have to do this again.  It's horrible especially in the summer because its too hot and gets all sticky and you cant take it off and have a bath.

I would be interested in reading anything you have on minicore disease as over here they think Sophie is an "Alien" and even Consultant Paediatricians ask us what it is!  In fact, when the Junior Doctors are taking their final exams they use Sophie to see if the Juniors can diagnose her - very unfair really!  She has absolutely no reflexes and when they are trying to find them you see them break out in a sweat!  There is very little reading matter on minicore myopathy and we haven't actually read anything ourselves!

Well, I'd better sign off before I wear you out reading all of this - I look forward to hearing from you soon and it's nice to know that there are other people out there - you can begin to feel alone after a while.

Best wishes.
Michelle Tiedman

Hi Faith

I was really glad to hear from you.  Have you actually got Minicore/Multicore Myopathy or a different type of myopathy?

I would be delighted if you put Sophie's information on the myopathy mailing list and on the multicore website.  If you need any further information please let me know.  In answer to your question - there is no evidence that Sophie's muscles have wasted but then no-one has really addressed this issue before!  At the moment Sophie goes to a special school and she is not receiving any physiotherapy due to a national shortage and we have noticed a deterioration in her physical abilities.  I presume if we left the situation as it were, sophie's muscles would deteriorate.

Nice to hear from you.
Best wishes.
Michelle Tiedman