A Scarborough mother whose two daughters suffer with a severe genetic disorder has played a key role in launching a breakthrough medical policy at the House of Commons.
Tracey Muschamp joined national charity, Max Appeal, and UK medical experts to discuss the first national consensus document on 22q11 Deletion Syndrome.
The landmark document will set a standard that can be applied to the diagnosis and management of people with the disorder.
The condition affects health and quality of life, from birth through infancy and childhood into adult life, with over 180 physical, functional and psychological associations reported. The complexity of 22q11 often leads to clinical confusion and a delay in diagnosis - often by years.
Dr Alex Habel, retired consultant paediatrician at Great Ormond Street Hospital, said: “The number of affected individuals in the UK with 22q11 is growing and with help to manage their disabilities, many are becoming parents adding to the pool of those in need. The consensus document will be of huge benefit to all patients and families and those who provide care and support.”
Tracey suffers with the condition herself, and for the last two decades has raised her two daughters, Charlotte and Katie, who both have 22q deletion.
As a full time carer she has struggled with the day-to-day life of living with the disease and her marriage broke up as a result. Despite this, she has cared for her two girls, who describe her as a “superstar”.
Not a week goes by without a hospital appointment for one of Tracey’s daughters.
Describing one of the hardest moments of her life, when both the girls had operations at Great Ormond Street Hospital on the same day, she said: “I had to come to London on my own from Scarborough with the girls, which was a daunting experience for me. Charlotte went into theatre first and Katie straight after. After the operation I sat with my girls on either side of me. I was in tears and so worried for both of them. It felt like I had to split myself in two pieces for my girls.”
On another occasion, soon after an operation on her stomach, Charlotte, then aged 14, was visiting a garden centre with her family and suddenly started to bleed heavily. It took a long time for her to recover psychologically and Tracey had to spend time with her daughter persuading her that it was safe to go out of the house.
It wasn’t until 1997 that Tracey, Charlotte and Katie received the diagnosis of 22q at Great Ormond Street Hospital. Tracey described it as a huge shock and has since carried a huge amount of guilt, still finding it hard to come to terms with. However, she said her girls had kept her going through even the darkest of times. “My life is my girls and they give me such happiness”, she said.
Despite long episodes in and out of hospital, Katie, now 20, and Charlotte, 22, are a source of inspiration to Tracey and others. They achieved nine GCSE’s between them and are passionate about helping others, both doing voluntary work. They have also supported numerous events for Max Appeal.
Tracey is hoping to gradually give her girls more independence and she is also managing to do some things for herself.