Could you be a woman living with undiagnosed autism?

I blogged about Shona in January. Her story in Essentials Magazine came out today. 32-year old Shona has a 1st class degree in genetics but finds it difficult to hold down even basic admin jobs. She is attractive with a big personality but has problems in her relationships with family, friends & boyfriends. She has always felt alone & at odds with the world. Six years Shona was diagnosed with autism spectrum disorder (ASD). Autism in women is an under-researched area & many women wait years for a diagnosis or are wrongly diagnosed with eating disorders or other problems. 10 males to one female are referred for diagnostic assessment for ASD; females present differently to males, with less obsessional and pedantic traits, which means autism is less likely to be suspected. Many women may be living with undiagnosed autism like Shona was.

How autism widens our view of the world

I've been agonising over how, for years, before our daughter got her diagnosis, we misunderstood her autistic behaviours as 'naughty.' We acted like parents of typical kids, setting boundaries and refusing to give in to our daughter's 'unreasonable' demands. Our actions resulted in lots of unnecessary frustration and anger on both sides. One way or another our daughter would have to learn that she couldn't get her own way by having tantrums.

Now, I understand that her demands are driven by obsessions and compulsions that she can't control. If thwarted, she becomes overwhelmed by distress & anxiety. The resulting outbursts look like severe temper tantrums. Some of her behaviours may seem totally unreasonable, for example one day when our daughter seemed particularly calm, I took her to a local pub on a sunny Saturday afternoon. It was very quiet and I thought she'd enjoy a coke in the gardens. When the barman poured her diet coke from a tap she started flapping anxiously as she usually has it in a bottle. I try to be one step ahead but you can't think of everything! I explained the situation & the barman unearthed a bottle with a metal cap, different from her usual one with a plastic lid. It was enough to tip her over the edge. She threw herself on the floor, screaming & pulling her hair. I stood by and waited until she was calm enough to be lured into my car with a promise of her usual 'coke-from-a-shop' at home. Her thinking is very literal & concrete, & no alternative would do. I try to keep her environment as consistent & structured as possible. I've learned that any tiny deviation in routine can result in chaos, but by deepening our understanding of how people with autism see the world we widen our own view.

Funding wrangles continue over disabled daughter's care

I've blogged about this before (see below). Received an update today that the funding dispute remains unresolved and various assessments will be done for a 'high level meeting.' 1st a 'standard' self-directed support questionnaire, then an in-depth 'care funding calculator assessment' to allocate my daughter a 'notional budget.' Scary stuff! I can't help feeling sorry for local authorities, who must really be feeling the pinch now. The system is flawed. Is it fair for one local authority or NHS trust to pick up the bill for people with severe and complex needs? Shouldn't there be a national budget for such cases?

For the last three years I have been fighting to get my 26-year old daughter, who has a rare chromosome abnormality & autism, the expert help and support she needs. Residential homes have said they can't manage her behaviours, expert support services have shunned responsibility and she has been pushed from one local authority to another throughout the south of England. Three times in the last year alone I have had to litigate to try to resolve the situation. Her PCT have said that she needs a fully staffed local supported living single person service – acknowledging that residential services can't provide what she needs. But who will pay? My daughter's funding has been a wrangle between two local authorities – one arguing that her predominant need was social care provision, the other arguing that her predominant need was for health care and, in addition, they couldn't agree which area’s authority was responsible. In January last year, after litigation, one authority was forced to accept 100% responsibility for funding her health care so she could get the hospital treatment she desperately needed. This funding agreement was given 'without prejudice' & the dispute continues. We have been waiting for over 18 months for a continuing care assessment to be completed - it should take about two weeks. These delays and disputes are a means for responsible authorities to delay or avoid paying for care. It means that our daughter has not had any involvement from a care manager for the past few months as the authorities continue to shunt responsibility betweeen them - I have done their job for them. She has suffered so much and we are fearful of the future - what happens when she leaves hospital? Our much-loved, complex & vulnerable daughter has become invisible in the midst of all the funding wrangles. We can only hope that she will regain her quality of life at the end of all this - but what happens to the vulnerable that don't have families to speak for them?

Cuts in services for the disabled

Attended a Mencap Big Cuts event today. Received loads of useful advice about fighting the cuts. Met other parents, who, like me, are frightened of what the future holds for their disabled children. What's happening already is bad enough - cuts in Mobility component of DLA & Disability Law Service, respite centres being closed down etc. Government plans to make personal budgets compulsory for people with disabilities are the most scary. Disabled people will be allocated a budget based on their support needs then, if they have the capacity, make their own decisions on how it's spent. In many cases the task will be vested to families or, if they have no family able to do it, outsourced to 'brokers.' Essentially, the government would privatise learning disability services like they did pensions - & look what happened there!! Although many charities, including Mencap, support the principles behind personalisation - giving people choice & control - there is concern that personal budgets would be inadequate & used as a 'stealth cut' to reduce the amount of social care provision made. Navigating the system will be be more daunting in some cases than others - hitting the most vulnerable or those with additional complex health needs. Not a prospect I'm looking forward to :(

Meeting the mum of Chrissy's genetic 'twin'

Comparing notes with another parent of a child like Chrissy was something I'd always longed to do. Until her diagnosis 4 years ago that wasn't possible. Recently, the mum of a 6-year old with the same 1q21.1 micro-deletion as Chrissy got in touch through Unique, the support group for families affected by a rare chromosome disorder. Initially, we swapped information by email & exchanged photos. By coincidence, the mum had already read a copy of my book 'Bringing Up a Challenging Child at Home.' So she already knew more about Chrissy than I knew about her daughter, Molly Mai. Today, we spoke on the phone for the first time. We plied each other with questions & shared stories for over an hour & were astonished by how much our families had in common. Their family sound lovely. Molly Mai is more mildly affected than Chrissy but it is so comforting to know that we're not alone in our experiences. We're looking forward to talking again, & maybe one day we & our daughters will meet. Thank you Unique!

Autism, communication - and a breakthrough

Using effective behavioural strategies are all very well but it's demanding & exhausting caring one:one for an adult with autism. Then sometimes, you get a small breakthrough that lights up your whole day.

This weekend, still treading cautiously after our difficult Xmas, I painstakingly used symbols & planned every word I said. It worked reasonably well until today over breakfast when Chrissy demanded her favourite dessert. I told her that we have 'puddings' at dinner time, not breakfast time but she grew increasingly insistent & agitated. I ran out of diversions & strategies, but didn't believe that giving in was the answer in this situation. As I prepared myself for the inevitable outburst, to my amazement, Chrissy paused for thought & came up with her own ingenious solution - a massive step forward. "Can I take my pudding to Linton?" (the ward she lives on) "Yes," I replied, removing it from the fridge. "Can I have a bag?" she asked, then asked for a spoon, which she insisted on selecting. "Make a bow" she ordered. I tied the bag up, gave it to her & the immediate storm passed....

Test to check DNA flaws in prospective parents

http://www.dailymail.co.uk/sciencetech/article-1346543/Pre-conception-test-flawed-DNA-eliminate-deadly-childhood-diseases.html

It is important to remember that only 600 of the better known conditions would be examined here. The test would miss many rarer chromosomal disorders affecting 1 in 200 of us. Tiny but equally 'catastrophic' genetic variants are being identified as culprits for previously unexplained learning disabilities in individuals. The mystery is that, in some cases, controls can share the same genetic variants without adverse effects. We still have a long way to go before genetic research can explain these differences. Strict guidelines need to be followed so that conditions tested for will definitely result in either very early death or severe suffering.