Guest blog: mum and Jeans for Genes supporter Stacey shares her story

February 14th, Valentine’s Day 2014 was a Valentine’s like no other. We were telephoned by our geneticist’s secretary the week before and invited up to the hospital for a meeting; to us this was a general catch up appointment as they had misdiagnosed our daughter, Imogen, the month before. Walking into that consultation room my heart hit the floor because we were greeted not only by Imogen’s geneticist, but another geneticist from the hospital, a paediatrician and a counsellor. Then, the discussion I’ll never forget began…image6

‘As you are aware we tested Imogen for Alagille syndrome which came back negative…so we did more research into Imogen’s symptoms and tested for another syndrome. This has come back positive, Imogen has Myhre syndrome’.

At this point I could not hold back the tears and broke down, not from sadness but from relief; our precious little daughter finally had a diagnosis. The geneticist then began to explain to me about the syndrome, firstly that it was extremely rare and Imogen was the youngest ever diagnosed, she was the only child in the UK known to have this syndrome and she was number 33 in the world!

Due to the syndrome being so rare, the geneticists were very vague about Myhre, they themselves had to research the syndrome before our discussion. They could only tell us about the literature they had read. They handed me some printed out papers they had found online and offered us counselling. We left the consultation room with our heads in a whirl wind…and so our journey truly began.

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Myhre syndrome is an extremely rare, autosomal dominant genetic condition. It is caused by a genetic misprint or mutation in a gene called SMAD4. Myhre syndrome affects many functions of the body.  This is because the SMAD4 gene is part of an important cell signalling pathway, which allows cells in the body to communicate with each other. When the communication (signalling) is abnormal it affects the development of many body systems – which explains why Imogen has many, varied, symptoms and features.

Imogen has many professionals involved in her care each managing a different aspect of her condition. A few of the professionals she sees most regularly include physiotherapists, speech and language specialists, cardiologists, and feeding and swallowing specialists.

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Imogen wears a DMO (Dynamic Movement orthoses) suit for her scoliosis, leg splints, hearing aids, glasses (when she will tolerate them) and has regular medication. Despite all that Imogen has to deal with, she is the happiest little girl and is full of energy. She enjoys going out with her friends and has a good sense of humour. She is outgoing, determined and truly independent. She makes us smile and very proud every second of every day. Imogen is our little princess.

Jeans for Genes and Genetic Disorders UK provide vital care and support services for children with genetic disorders in the UK like Imogen. Read more about our work at jeansforgenesday.org

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