Kelly Warren’s 25-year-old daughter, Chelsea, was diagnosed by UK doctors as having a chromosome microdeletion, but the family said they keep meeting brick walls in Guernsey because the condition is not fully recognised here.
Mrs Warren said it was very upsetting and stressful.
‘We just want the authorities here to agree that the microdeletion is a disability. We’ve spoken with many doctors and States representatives because this needs to be recognised, the genetics doctors have told us that this is a disability, this will affect her life.
‘The States keeps telling us that it’s severe autism, and fair enough Chelsea’s autism is bad, but the autism is just a symptom of the microdeletion, they’re not seeing what’s going on in the background.
‘It would be helpful if there was someone who had some sort of specialism here or at least has studied it.
‘There’s no one at the Medical Specialist Group who can see my daughter because they don’t know about the microdeletion, so she has no specialist to keep an eye on her.
‘Her dad is her full-time carer and we can’t even get respite support because she doesn’t have the disability status.’
It is believed that there are nine known people in Guernsey with this type of microdeletion.
Because of its rarity it does not have a proper name, but genetic doctors call it 15q13.3 because that represents the tiny part of chromosome 15 which is missing.
Every person with this microdeletion is said to be unique with different medical and developmental concerns.
However, common features are learning difficulties, autism, seizures, epilepsy, unstable personality disorder, mental health issues, hyper mobility, and flat footedness.
When Mrs Warren’s daughter was diagnosed with the 15q13.3 microdeletion 10 years ago it was almost a relief, because they finally had a reason for the behaviours.
Getting her daughter recognised as a person with a disability would mean there would be an entitlement to some support.
There is no cure, but the family have been told that in the UK patients are able to get their organs checked regularly, have brain scans after long seizures, and physical therapy for the hyper mobility, because if that symptom worsens it could require a wheelchair.
Apart from the Occupational Therapy department of the States, the family say they have had nothing and they feel that just because the condition is rare it does not mean a person in need should be ignored.
Mrs Warren said her daughter is a loving and highly sensitive person, and they want her to live a fulfilling life.
By speaking publicly the family hopes to raise awareness.
‘In Guernsey we’ve tried the Adult Disability Service to try and get help, but they said that microdeletion is not a disability.
‘We recently had an appointment in the UK for Chelsea to go to genetic expert, but Social Security refused to help us pay for it because they said she didn’t need to go, because they could sort the autism out over here.
‘So in the end we had do a video call with the genetic doctor, and she was appalled at the lack of support that Guernsey has.’
Health & Social Care's response:
MICRODELETION can have varying results in different people, Health & Social Care has said in a statement in response to Mrs Warren's claims.
‘We never comment on individual cases but in general terms it is not the case that we don’t recognise microdeletion as a disability.
‘We recognise that for some people living with the condition they can have physical or mental disabilities.
‘However, this is not the case for many and it is possible for people to be referred to the Adult Disability Service but upon review not meet the threshold for services from us.
‘This would mean an assessment had determined their disability does not affect their functional skills sufficiently enough for them to meet the criteria for the specialist services we provide.
‘We completely understand that this can be frustrating for those who don’t meet the threshold, but these specialist services are aimed at people with substantial or critical needs.’