Kellyann and Jamie Carter, both 27, with their three kids Rose, four, Billy, three, and Nancy, two
A HEARTBROKEN mum has told how the NHS are making her family wait 15 years to discover if her three young children have inherited the same devastating condition that is killing their young dad.
Since the diagnosis, the family have moved to a bungalow as the disease has left Jamie struggling to climb stairs or even feed himself.
Kellyann has also had to quit her job at a care home to become his full time carer.
The mum now lives in with the constant fear that little Billy may have the disease because he falls over more than other children - with clumsiness being a sign of SCA1.
Kellyann, from Witham, Essex, said: "It is so, so hard for us. I don't know how I can face 15 years of not knowing, it's very scary.
"The doctors don't know at what age the first symptoms can develop - we've been told it is usually in your teens or early 20s, but sometimes I wonder.
"Billy always falls over, and although I know it's completely normal for toddlers, the girls don't have the same problem.
© Kennedy News and MediaDad Jamie, who is battling the progressive condition, with son Billy
"You wouldn't believe the concerns I have about him. I haven't got the same concerns for the girls because they don't fall over like he does.
"To me, as a mother, I want to help him and I feel like the only way to do that is to find out for myself."
The mum became pregnant with Billy in 2014 when Jamie was diagnosed with the rare condition which only affects around one in 100,000 people.
After being given the awful news that their children have a 50/50 chance of inheriting the condition, the young mum had a contraceptive implant to stop her getting pregnant again.
However, the contraceptive failed and she fell pregnant again in early 2015.
They considered having an abortion and even booked an appointment but were unable to go through with it and gave birth to Nancy in October that year.
Doctors won't let their three children Rose, Billy, and Nancy, have the simple genetic test until they are 18
Kellyann then took the decision to get sterilised so that she could not fall pregnant again, but guidelines say that genetic tests on conditions like SCA1 should only be done when the children are old enough to decide for themselves.
The mum-of-three said: "I have asked them to do a gene test but, even though I'm their mother, I'm not allowed because they have to give consent themselves and they can't do so until they are 18.
"I feel like I have the right to know so I can prepare myself, and them, for their future.
"I got offered a test while I was pregnant with Billy by the hospital, but there was a high chance it could lead to a miscarriage - I was told it was more likely than not - so I didn't even think about it and said no.
"In hindsight, maybe I should have done but I didn't want to risk my baby's life just to know."
FAMILY IN CRISIS: Genetic testing and counselling in the NHSJamie's diagnosis has changed the couple's lives as they quit their jobs when he became too ill to continue working as a caterer for the NHS.
The NHS says that genetic testing can be used to find out whether a person is carrying a specific altered gene that causes a particular medical condition.
However the consent of the patient being tested must be given, and in some cases this consent cannot be given before the age of 18.
Tests are carried out in order to...Patients need a referral from their GP or a specialist doctor for genetic testing to be carried out.
- diagnose a person with a genetic condition
- help work out the chances of a person developing a particular condition
- determine whether a person is a carrier of a certain genetic mutation that could be inherited by any children they have
Source: NHS Choices
With no known cure to SCA1, Jamie now struggles to eat, walk, speak clearly and even carry out simple tasks by himself.
Jamie's diagnosis has changed their lives as the couple quit their jobs when he became too ill to continue working
Many people mistake his imbalance and slurred speech for drunkenness, causing frequent embarrassment and upset for the family and increasing isolation for Jamie from the outside world.
He said: "I didn't really know how to deal with my diagnosis, so realising that the condition is just going to get worse and that there's no getting better has been really hard to accept.
"The worst thing is that I am young: I used to work, I used to play football, and I was always very athletic.
"Now I can't even take my kids outside to play in the park, or pick them up from nursery. It's turned our lives upside down.
THE EXPERT'S VIEW: How SCA1 progressively devastates lives and when sufferers are diagnosed"I just want there to be a cure so I can outlive this and see my children grow up - that would make me very happy.
Julie Vallortigara, research officer at Ataxia UK, said: "SCA1 is a genetic form of ataxia, and it's a rare neurological and life-limiting condition.
"It's a progressive disease, and therefore symptoms get worse for somebody living with the condition year after year.
"The age of onset does vary, and the rate of progression can be different from one person to the next.
"Sometimes, how long it has been in your family does play a factor. Each time it is passed on, an earlier age of onset and more severe symptoms can be observed."
Genetic Disorders UK state on their website: "[A predictive or presymptomatic test is generally only offered to adults (18 years+) as the health implications are only in adulthood and there is a need to respect individual autonomy."
A 2011 report on genetic testing by the Royal College of Physicians and the British Society for Human Genetics gives some hope of an earlier test, but only by a year or two.
The report states: "Young people aged 16 or 17 are presumed to have capacity to consent. Under the age of 16, the presumption is reversed."
The report goes on: "Where the test will not be of medical benefit to the child for some time, the recommendations suggest a presumption of delay until a child is old enough to choose for him or herself, unless there are compelling reasons to test earlier."
"Even now we would love to go to work if we could. We would rather go to work than not.
"But I'm not able to and I need someone to care for me all the time, so we just have to keep going. Unfortunately you've just got to learn to live with it."
It was when Jamie was just 23 that couple went for him to get blood, balance and coordination tests and it was confirmed he had SCA1.
Kellyann said: "Jamie is getting worse all the time and there's nothing I can do to help him.
"All the time it's constantly going through my mind that my kids may face the same future as Jamie. It breaks my heart that my children might not have a dad when they grow up."
Comment: That a parent is completely responsible for their children until they are able to give consent seems to reason that they can make these requests of their behalf. It states that these are guidelines and that this is a rare condition, and therefore an exception could be made. However it seems the age we live in bureaucrats are unwilling to adapt their policy to the situation at hand. It's only when a legal case is made or outrage through a publicity campaign that we sometimes see a semblance of empathy.
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