Parents of children with ataxia: request for a case study

Hi all!

I hope you are well.

For those of you who have children with ataxia, would you be interested in sharing their story of diagnosis, or mis-diagnosis? Is there anything happening currently you'd like to talk about?

I'll be sending a story to the charity Childlife and it will be published in their newsletter. If you'd like to know more, you can email me at [e-mail]

Many thanks,

Leanna

Communications Officer Ataxia UK

[majajefferies]

Our 17 year old son has DRPLA.

His whole treatment at GOSH has been farcical, his grandfather died of pneumonia related to his cerebellar ataxia, he started having myoclonic epilepsy at 9 and still was not diagnosed until 15 and only because we asked for second and third opinions.

His epilepsy care was abysmal from the very start, we were even denied access to medication which actually helped control seizures.

Palliative care haven’t contacted us in two years despite promises of assistance.

We can’t even access the crucial therapies for him (physio or speech&language).

We have been told by a prof Wood (UCL) that there is zero hope for any treatment in his lifetime, to “enjoy him whilst he is with us”.

Prof Giunti saw him in her “centre of excellence” with more or less the same result.

DRPLA scientific trial for an ASO with Kings College and IONIS is due to commence in January, due to us discarding his advice, finding other patients and approaching the scientific and medical communities.

In our case the NHS has failed us as a family and our son as a patient, nobody is interested in helping him live the best life within his illness and we feel completely ignored and unsupported by medical professionals who have lost the focus and seem to be more interested in paperwork and accolades rather than actually helping human beings who need them.

[Hidden]

Hello there,

Thank you for your response and I am so sorry to hear the awful experience your son and family have had.

Have you tried reaching out for support from Ataxia UK? We have a helpline that you can email [e-mail] at any time or ring 0845 644 0606 Mon-Thurs from 10.30am to 2.30pm. We also have a private Facebook group for people with DRPLA as a means of support.

If you'd like more information, please email [e-mail]

Kindest regards,

Leanna

[GoPlayer]

Hi Leanna,

Would that be childlife.org ?

Bart-Jan

[Hidden in reply to GoPlayer]

Hi Bart-Jan,

childlife.org.uk/

Thanks,

Leanna

[Jenandbeth]

My 23 year old daughter was consistently turned away from GP. In fact, the GP ultimately called me to an appointment and said he thought there was nothing wrong with her and I maybe needed anti depressants! I think I was perhaps stigmatised as a single, teen mum. It took until she was 30 months and a hospital admission for a perforated ear drum to get anyone to listen to my concerns. The hospital immediately observed issues and we were correctly referred. Ever since we have had a catalogue of diagnosis : global learning delay, left side weakness, adhd, autism, cerebral palsy, dyspraxia, suspected brain injury ( which we didn't get ruled out until she was 18!) And on and on. An initial consultant did query episodic ataxia ( I never thought it was episodic) and my daughter did recieve trial treatment from Great Ormond Street ( it was sent to Glasgow) but it didn't work and then all the professionals seemed to lose focus. I had a Psychologist tell me I was too loving and hugged her too much ( she was 5) and to withold my affection until she did as I required. My mum phoned me after a week of this horrible withdrawal, in tears and told me to ignore the Psychologist ( best thing I ever did). I have had OTs tell me it was my own fault her balance and coordination had deteriorated as I'd let her lean on her sister's buggy. I also got told that she was struggling with stairs as my hall was decorated too neutrally and that particular professional took great delight in taping luminous orange strips to my hallway ( which my husband tore off in a fury). I had a 5 year fight for a walker as they would not take her deteriorating mobility seriously. She has just been assessed for a wheelchair. Because of the learning disability my daughter did recieve specialist schooling which was a God send as they could see the issues and work with them despite not knowing what they were dealing with. Two years ago we FINALLY got feedback that they had identified 2 mutated genes linked to Spinocerebellar ataxia. We are currently in the process of her estranged Dad and his family receiving genetic counselling and testing and I am hoping ( praying v hard) that this identifies the exact Spinocerebellar ataxia she has. It may not change who she is but it may change some of the very difficult attitudes we have had over the years. Don't get me wrong, some professionals have been wonderful, but others (?) let's just say there's been a significant lack of understanding, care and support. A diagnosis shouldn't matter but in our case I feel so thankful to be nearing one.