Video Interviews: Impact of Diagnosis

About this clip: Impact of Diagnosis

Seven people discuss what it is like to live with a genetic condition and how it has affected their lives. They tell about their initial diagnosis and how they discovered they were a sufferer of a genetic condition.

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The Transcript:

Impact of Diagnosis

My name's Corrine Swainger and I've got Tubular Sclerosis and this wasn't actually diagnosed until I was twenty eight. However, its interesting to think that a lot of times people say "Oh you know, you've had it all your life". That's interesting to think about.

I had epilepsy when I was 12 and that started out at that point. My periods stopped when I was 16 and all of a sudden I was diagnosed with kidney disease. That went on to become endstage renal disease and I eventually needed a transplant at the age of 21. I got a transplant from my sister which lasted 10 years. I got another one. I was very lucky to have a second one - another kidney. That lasted 6 years.

It hasn't just been kidney's and epilepsy, it's also been a lot of skin problems. It's been medication, remembering to take medication, high blood pressure. It's also meant a lot to me growing up, school wise, thinking about having kids, thinking about what I would do in the future - as far as dating somebody, for example. All these insecurities have come up, all of these ideas have crossed my mind with TS. It's actually good to know finally when I was diagnosed at 28 what it all meant.

It was like a jigsaw being tied together, finally somebody came along and said "we think, we suspect, you have a medical condition" and at that point there was no genetic test. When I was actually diagnosed, they said you have a 70% chance but at that point it was still sort of a question mark as to whether I had it or not.

My name is Mike Payne. I am 49 years of age and I have haemophilia. I was diagnosed at birth because my brother had already been diagnosed as being a haemophiliac. Haemophilia is where one of the vital proteins that causes the blood to clot is actually not manufactured by the body, which means, not that you will bleed excessively if cut because everybody bleeds at the same rate when they are cut, but it means that you can bleed internally very easily with joint bleeds, with haemorrhages in the stomach, and things like that. You generally have to run your life around it and make sure that you don't overstretch yourself.

My story really began in October 1991 when my attractive, intelligent, outgoing, energetic wife Sarah, hit her head on sharp edge of scaffolding and problems began. Those problems, to do with vision, to do with balance and other obviously considerable concerns at the time eventually lead us, a year later, to Queens Square, to the National Hospital of Neurology where Sarah was diagnosed as having this comparatively rare disease, Progressive Supranuclear Palsy.

I have MEN2A. It's a genetic cancer condition which attacks the thyroid and adrenal glands, endocrine glands altogether really, but basically it's affecting my thyroid and adrenal glands.

My name is Laura Cowell and I have cystic fibrosis and that effects the lungs, the digestive system and the pancreas.

My name's Helen. This is my daughter Sophia, my son, Oliver, and my husband, David. The three of us have neurofibromatosis which is a genetic condition. I found out when I was pregnant with Oliver I had a lot of little lumps appear on my stomach. I'd had various tumours removed prior to that but nobody actually told me and it wasn't until after Oliver was born that we actually looked into the condition and found out more about it.

I am Jeanette Forester and this is my daughter, Susie, and she's 31 now and she has Rett syndrome. She has classic Rett syndrome and she was diagnosed with it at the age of 18. Prior to that they had diagnosed her as profoundly mentally and physically handicapped but the cause was unknown.

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