Saturday, 17 August 2013

Genetics Advances and Learning Disability: A Parent's Perspective

My book Bringing Up a Challenging Child..... was published in 2000 and takes the reader through Chrissy's life up to the age of 14.

A decade later my chapter 'A Parent's Perspective' was published in the New England Journal of Medicine. Dr Samantha Knight, who was on the research team that discovered Chrissy's chromosome disorder, was editing the journal and, as you can imagine, it was a huge honour to be invited to contribute. The book, which was published in Feb 2010, had the fabulously un-pc title 'Genetics of Mental Retardation' (a term that is still used in the US) My chapter encompasses Chrissy's life up to the age of 26, and lies behind reviews on the remarkable advances in modern technologies that have resulted in newly identified syndromes and the importance of genetics in learning disability. The best way I could think of to add my chapter was in a series of images that can be opened up and read individually. The 14 pages can be clicked on and scrolled through at the bottom of the screen.

In between the two books I also wrote a piece for the Daily Mail about the groundbreaking genetic breakthrough that ended our 22 year search for answers in 2006.

I support Unique & I'm a SWAN (syndromes without a name) blogger

Saturday, 10 August 2013

Progress & Mum Meltdowns

The roller-coaster ride continues! I'm feeling more optimistic again as there's been progress on all fronts.

Chrissy made it home yesterday! It's been a real struggle to get her up, bathed, dressed and out so all credit to the ward staff for getting her here.

Last week I had what Chrissy's social worker called a 'mum meltdown' when I saw the wretched state Chrissy was in, & the only solution I could think of was to keep her at home until suitable housing was found. Now we've had another discharge planning meeting and seen the neurologist, I'm able to take a step back and make a more considered judgement. The neurologist has attributed the changes in Chrissy to Zonisamide, so it's being withdrawn but we're likely to see clusters of seizures. I'm not sure how well I could manage these at home and if I, alone, had decided to bring her home, it could all blow up in my face if I put her at risk. At least in the assessment & treatment unit there are always medical staff somewhere on the site.

The urge to kidnap Chrissy & protect her from harm at all costs grips me every so often. It's an irrational, but all-consuming impulse that made me sympathise with Sally Roberts, who ran away with her son to stop him receiving life-saving radiotherapy because she feared it could do him more harm than good. Also, if Chrissy came home her place on the ward would still have to be paid for by the NHS so we need to do this properly and plan each step with her multi-disciplinary team.

So now I've had the opportunity to air my concerns to the neurologist and other professionals involved in supporting Chrissy I can see light at the end of the tunnel again. Zonisamide is slowly being withdrawn. Chrissy's had two seizures, but one of those was on 1 August when she was on the full dose of Zonisamide. She had the other seizure here in the early hours of this morning. Both seizures were one-offs & lasted around 30 seconds. I am concerned about what next with her epilepsy meds. In the past her seizures haven't been managed by Epilim alone but the neurologist said there is scope to increase it. Overall, on balance, would it do her more harm to increase her regular epilepsy meds - or add secondary antiepileptics - or allow her to have runs of seizures & use rescue meds? These runs of seizures used to only occur around twice a month but they've been suppressed by meds so I'm not sure what her natural pattern is anymore. I don't know anything about the long-term side-effects of using rescue meds at the frequency Chrissy would need. The assessment & treatment unit still use PRN Diazepam, but care providers I've spoken to use buccal midazolam, which is given into the buccal cavity (the side of the mouth between the gum & cheek). I wonder why the latter has never been tried for Chrissy & which would work best? These are questions I need to ask the neurologist at her next appointment.

Progress too on moving into the community - yesterday we met with someone from a specialist housing association for people with disabilities and mental health problems and a potential care provider. We were very impressed with each of their approaches and the obvious passion they showed for supporting vulnerable adults to live as full a life as possible. With the aid of grants, the not-for-profit housing association would purchase a share in a property of our choice, given various conditions are met. The other part of the property would be mortgaged with a specialist mortgage company. As I said in my previous blog post, the budget covers a house we've seen in the local area.

The tendering process for providing the care package is now well underway. The plan is for decisions to be made early in September. The more I learn about supported living the more I realise it will be very different to any other service that Chrissy's lived in. It will be a huge challenge and a steep learning curve. Chrissy has no idea of what's in store as she wouldn't understand the concept - but I'm really excited! Bring it on....:)

I support Unique & I'm a SWAN (syndromes without a name) blogger