New to forum

[Lucy_2010]

HI I just joined the forum. My son has a very rare syndrome called Xia Gibbs. There are only 200 patients around the world so far diagnosed. We have a facebook community, but sometimes I need help with navigating the care system in the UK and there are only about 10 families in the UK with my sons condition. His syndrome was only discovered by geneticists in the US in 2014. The community is slowly growing as more children are being diagnosed through genome sequencing. A lot of them have had had diagnoses of Autism and/or ADHD. The symptoms are sleep disturbances, learning difficulties and spine problems. We are all still learning about the syndrome and there is a team of geneticists working on the gene to understand more about the syndrome. Most of the patients are children, but we found one adult in the US in his 50s. the scientists are not sure about the prognosis with age, because theyve only found this one middle aged adult. 2 children have died so far, but they think there could still be other adults out there living with the syndrome, its just that gene testing isnt done very often with adults with learning difficulties. My son is 11 years old and is non verbal. He has mental capacity of 18 months.

[sunnydisposition]

Hi Lucy

but sometimes I need help with navigating the care system in the UK

What help do you need? Can you expand.

[bowlingbun]

You should be getting services based on what your son NEEDS regardless of diagnosis.
Have you applied for disability living allowance?
Heard of the Family Fund?
Contacted Education?
Social Services?
Had a Carers Needs assessment for yourself?

[Jane Carers UK]

Hello Lucy, welcome to the forum.

It must be difficult caring for someone who has a little-known condition. In terms of practical support I would recommend you look through our help and advice pages and check you're getting everything you're entitled to. Link is here:

https://www.carersuk.org/help-and-advice

Best wishes

Jane

[Lucy_2010]

i camt do any of those things because I am being abused. please help me

[sunnydisposition]

Are you able to tell us more ...

camt do any of those things because I am being abused. please help me

who is abusing you?

[Melly1]

Lucy,

I thought your son lived at his Father's house and his Father had abused you?

I'm confused.

Who do you live with now?

Melly1

[Lucy_2010]

I live alone. But am being psychologically abused on email and through other means. I am frightened of asking for help. Every time I try services attack me and victim blame me. They tell me i deserve no help and I should just tolerate the abuse. The police say they are taking my concerns seriously. But they are saying they cant do anything and I have to let my son be locked up. Social services say it is a police,matter, as to NHS. But when I report it to police they say it is a social service matter. Then when NHS do welfare check they find my son still alive and say they cant do anything to ensure he gets treatment for his condition. I am really scared.

[Melly1]

Lucy,

You sound very stressed and anguished. Battling with social care, the NHS and the police is taking its toll on you.

You might be better focusing on ensuring your son has regular check ups at Great Ormond Street with the doctor who diagnosed your son with this rare condition. He/She will want to monitor your son not only to check up on him but also do develop their knowledge and understanding of Xia-Gibbs Syndrome.

You can raise your concerns with this doctor too, particularly about his breathing and sleep apnea. You need to be careful, as the more you focus on the him being locked in the bedroom etc - it detracts from the sleep issue. All you need to say is he sleeps in a separate room from his Dad and so you are concerned his Dad would not be aware of him having breathing issues/sleep apnea in the night.

Is your son's school concerned that he is falling asleep in class etc?

Does he have breathing difficulties during the day?

I appreciate you are concerned he is locked in his room, however, most non-verbal children still vocalise and make sounds so if awoke distressed or was upset in the night, I'm sure his Dad would hear him. I hear S in the night, even though his door his closed.

I'm not saying it is right that he is locked in his room, but that you need to pick your battles. If you are so stressed out that you are close to having a breakdown, you won't be able to advocate for your son at all. Focus on having him monitored by the Dr at
Great Ormond Street first and go from there.

Do you have contact visits with your son?

Melly1

[Lucy_2010]

Hi

I have taken this up with GOSH and their PALS team there. They are following up with social care and safeguarding. But I am getting no response. All I know is that the geneticist who has diagnosed him have originally said that it is up to the local team to commission services and that they cannot treat him from GOSH. They have subsequently said that they are going to ensure a care plan is put in place for my son. Iam not able to see my son because I dont have a carer or wheelchair to help me. I have got no transport either and whenever I have tried to do a handover with my son my ex husband is abusive towards me. Last time i tried to do handover he was grabbing my sons wrists so tightly and coming into my face laughing manically. I had to run into the back of my car just to get away from him andhe came running after me and trying to get at me as I was barricaded in the back of my car. I reported it to the police, but they didnt follow it up properly and then I chased and now they said they dont have CCTV any more. This happened in a train station, which is why I followed this up with British Transport police.

Lucy