Living with a Rare Chromosome Disorder (2)

Just as I was brimming over with joy about Chrissy getting her life back, it all went belly-up again- but every cloud has a silver lining. Reading through Chrissy’s records and seeing everything that’s happened over the past six years was harrowing but now I'm clearer about what she needs for a better future. Her recent setback is a stark reminder of her fragile hold on stability and the importance of having robust community-based medical support.

Chrissy’s behaviour started to worsen after her antiepileptic, Zonisamide, was in the final stage of being titrated up to 300mg a day. Her moods became very erratic and she turned into a roaring Stalinesque dictator. Then she kept going back to bed and lost her appetite completely. As Chrissy is obsessed with food and eats everything that’s put in front of her, (the opposite of her failure-to-thrive infancy) alarm bells rang.

These symptoms had appeared nine years ago when she was 20 - her platelet count had dropped so low she was rushed to hospital. So this time, I asked for blood tests to be done asap. Lo and behold, her platelets were low again. Platelets help the blood to clot so if the count drops too low it can lead to uncontrolled bleeding. There have been other abnormalities in Chrissy’s blood count over the years, nothing too striking, but at one point her doctors thought she had myelodysplasia, or pre-leukaemia.

So here we go again. This time, her platelet count isn’t low enough to put her at risk but it’s been part of a general downward trend. As any parent knows, there’s nothing worse than seeing your child suffer but knowing you’re helpless to do anything about it. Last weekend Chrissy kept telling me - ‘I feel sick.’ Sometimes she tried to eat but couldn’t bring herself to swallow; other times she refused food and fluids altogether. She has lost 7.5 kg (over a stone) in the past fortnight and constantly has white gunk around her mouth due to dehydration. Her doctors have been on the case but it’s trial and error. Chrissy’s neurologist advised a reduction in Epilim - not the new drug, Zonisamide. I agree with his decision. So many new adjunctive antiepileptics had been tried, and caused horrible side-effects, we were at the end of the road. We can’t keep putting Chrissy through what are effectively drug trials. She’s been on Epilim for years so it’s a case of better the devil we know, but the dose has been high, and, perhaps when Zonisamide was added it tipped her over the edge. We saw Chrissy’s neuro on Friday and he said that Chrissy had been trialled on just about every antiepileptic drug going, so he was reluctant to try any more. He decided to withdrew Clobazam, as that could be making Chrissy nauseous, and should have only been a stop-gap drug while Zonisamide was being titrated up anyway. If Chrissy responds well he will look at tweaking her other anti-epileptic drugs down to try and achieve a better seizure control/quality of life balance.

The sudden deterioration in Chrissy's health has been a rude awakening. I’d been living in hope that one day she would regain the lasting stability she enjoyed during her teens. Now I have to admit it’s unlikely. It was hard enough to stabilise her epilepsy and behaviour but now these other side-effects have to be taken into consideration too.

So until a few days ago, I was going through a period of grief again - bursting into tears at unexpected times, and waking up in the night panicking, and torturing myself with thoughts like ‘how can her body cope with all those drugs going into an empty stomach?’ Then the sun came out, and love and support came pouring in from all sides, and the future started to look rosier again....

In the meantime, a bungalow has come up on the social housing register. It looks promising – in a neighbouring village set in open countryside, five minutes drive from us - and Chrissy would share our GP, who already knows about her. Her Social Worker is 'quietly confident.' We should know by Monday if our bid's been successful.

Supported living still feels like an experiment to me but I'm told it can work for even the most complex and challenging individuals. If it's going to work for Chrissy, it stands a better chance if she's close to her family.

Wish us luck!



I support Unique http://www.rarechromo.co.uk/html/home.asp & I'm a SWAN (syndromes without a name) blogger

Legal Challenges and our Hopes for a Better Future

It's been a tough week and at times I've felt overwhelmed. We've been dealing with solicitors over difficulties with the plans to move Chrissy on, and have seen a return of some of her old challenging behaviours. Issues with the quality of personal care she'd been receiving had resurfaced but, thankfully, they've been resolved again.

We've had crisis times like this throughout Chrissy's life. I'm painfully aware that some quality of personal care problems could be avoided if Chrissy lived with us full-time but, as we experienced this weekend, it could never work for a number of reasons. I discuss this dilemma in a previous blog http://jgregorysharingsstories.blogspot.co.uk/2012/10/living-at-home-again-impossible-dream.html Some adults with a learning disability can thrive in the home setting. Chrissy isn't one of them and this is the case with many adults with a learning disability that display severe challenging behaviours. Even when Chrissy is at her most settled, she is full-on and can't be left unsupervised. Her intellectual functioning is at a similar level to a two-year old's - imagine the difficulties that a stroppy adult-sized toddler would present - and then some! When Chrissy's unsettled, as she was this weekend, her moods are balanced on a knife edge and it's like living in a war zone. As part of our legal challenge, I've been reading through old care records and they're a brutal reminder of what day-to-day life can be like with Chrissy. These behaviours have proved impossible to manage even in residential settings geared up for such challenges.

We hope that the reversion to old behaviours is temporary. As Chrissy's Zonisamide has been gradually upped, she's had spells of wetting herself at night and sleeping excessively - but then those side-effects have worn off in time for the next dose increase. Now it's been increased to its optimum therapeutic level, which seems to have tipped her over the edge. On the unit last week she'd had nosebleeds and kept wanting to go back to bed during the day. When she came home on Friday, she seemed fine at first then her mood kept switching from tears to manic laughter to shouting and demanding things. She took to the floor several times, biting her toes and pulling her hair. She demanded the same things over and over, like a stuck record, but whatever we gave her wasn't enough. She was generally more irritable and destructive, and broke her laptop mouse when she threw her laptop across the room. Ian's bloody brilliant when she gets like this; he's so patient with her, much more so than me. I find these rage episodes and prolonged periods of distress completely draining and they throw up painful feelings - resentment, guilt, pity, anger, grief, fear, helplessness, inadequacy....

Chrissy complained several times that she felt sick and, because she kept getting 'stuck' in one place and couldn't move on, yesterday, she couldn't even settle down to eat. Everything from persuading her to take her medication to getting her into the bath took far longer than usual. Then, when we finally managed to get her into the car and back to the unit at around 5.30pm, she wouldn't move out of the car. These aren't quite the same as her frozen states because she isn't content to sit quietly in her own space. It was upsetting to see her so distressed again but she is still alert and has all her wits about her. In fact, at one point, so determined was she to stay put, that she locked herself in the car. We had keys of course but there's no moving Chrissy when she doesn't want to be moved! We got stuck at the unit for ages, and had to laugh as we swapped places with Chrissy. We thought that if we hid out of sight behind the entrance gates she'd get bored and call us to be let out. Not a bit of it! Eventually her care-worker had a brainwave - to move the car slightly closer just to jolt Chrissy out of her fixed position. It worked but she took to the ground outside and still refused to move. At least we got our car back!

So on to the legal challenge - I've posted previously about the Ordinary Residence and Continuing Healthcare funding dispute, which kicked off after we relocated to a new county when Chrissy moved into Adult Services at 19. The timing of our move and the fact that Chrissy's condition worsened afterwards turned her into a political hot potato. The upshot is that we've had to engage solicitors yet again because the funding dispute is still adversely impacting on her life. As my husband, Ian, puts it: 'If we hadn't kept driving things on, Chrissy would have been condemned to a wretched life.' As the funding dispute started in 2008, it's hard to understand why an independent higher authority haven't been brought in to resolve it by now. It looks like this nearly happened in 2011 but the commissioners intervened by agreeing to a process called 'local resolution.'

A local resolution meeting was held in November 2011 and they promised to put things right. They offered to carry out a retrospective continuing healthcare assessment, which would be a major step towards solving the funding dispute and determining who was responsible for funding Chrissy's care package. They promised to complete it by February 2012. We're still waiting. Now they say Chrissy can stay in hospital until they've completed the assessment and funding responsibility is determined - yet they still haven't specified a definite date......

We are also concerned that if they claim that someone else has funding responsibility, the other official body will appeal, which will then lead to further delays. So we've been forced to bring matters to a head and have engaged solicitors. Last week the commissioners replied to their letter before action. I've spent the past few days correcting facts and omissions in their reply, and adding further evidence to strengthen our case, ready for the solicitors to prepare for the next step. Is what they're doing actually unlawful or just poor practice?

Chrissy's case is further strengthened by a wonderful letter from Mencap. Quotes include: 'It has been extremely difficult for Mencap to understand why the situation has remained stuck for so long.....'The amount of correspondence that Chrissy’s family have had to engage in to try and understand the barriers, and to try to move things forward for their daughter is difficult to believe.....''There has still been no proper assessment of Chrissy’s needs on which to base the planning......' 'The Government is very clear that people with a learning disability should be supported to live in their own communities. There is no reason why Chrissy should not be living in her own home near her family. It is crucial that the accommodation meets her needs and that she gets support from staff who are able to meet her complex health and behaviour needs. It is also crucial that she can get the right input from medical professionals, when needed.....' 'Chrissy should have the same opportunity to enjoy life as other young women her age, with the right support. She should not be living in a unit....' 'I am sure you will agree that it is unacceptable for the situation to continue as it is. I think we can all imagine how damaging and stressful it is for Chrissy and her family.'

Let's hope that we're nearing the end of this damaging chapter in our lives and that the outcome will enable Chrissy to live her life in the way that she'd want to. http://jgregorysharingsstories.blogspot.co.uk/2011/08/how-id-like-my-life-to-be-by-chrissy.html



I support Unique http://www.rarechromo.co.uk/html/home.asp & I'm a SWAN (syndromes without a name) blogger

Living with a Rare Chromosome Disorder

Well....Chrissy's clinicians have deemed her ready for discharge now, just as I was beginning to wonder whether I was kidding myself to think that her behaviour and epilepsy would ever be stable again.

Since the last meds change several weeks ago, every day has been a sunshine day. We're almost at the optimum therapeutic dose of Zonisamide, at which point the stop-gap antiepileptic, Clobazam, will gradually be withdrawn.

It's heartwarming to see 'no seizures' and 'no challenging behaviours' recorded each day in Chrissy's ward/home report. The episodes of inconsolable distress have vanished. Music from her Ipad makes her dance in her chair and her cheeky chuckles ring out around the house. I took the photo above when we were sitting in my car and she had just reached across to stroke my arm lovingly. Simple gestures like that mean the world to me as Chrissy doesn't often instigate affection.

She is having a great time exploring the new ipad she got for her 29th birthday, doing puzzles, building snowmen and causing mayhem in her virtual home. At first she used different fingers and even changed hands to manipulate objects around the screen - but she's learning fast. She has relatively good manual dexterity and loves anything to do with computers.

On our morning walk to the village shop, Chrissy pointed out sights that interested her, including a metal arch over someone’s gate. 'Rainbow!' she cooed, then stood admiring it for a while. I was enchanted.

Chrissy admiring the 'rainbow'
Chrissy still struggles with transitions and needs all our attention but she's content and responsive, which makes our job much more rewarding. She wants to be out there living her life now. The unit do their best, and do take her out, but not as often as she would like. This morning when I asked her to take her medication, she replied: 'When the night staff come!' It's definitely time for her to move on but we've had to involve solicitors to focus commissioners' minds as things were dragging on. This has been the case with each of Chrissy's major transitions over the past few years. Legal aid cuts are brutal but, in this instance, Chrissy's solicitors were able to demonstrate that we had exhausted every other avenue and only turned to them as a last resort. She will, however, have to pay a contribution.

Chrissy's housing options are still unclear but we are finding a way through the maze. One of the biggest barriers we faced was accessing social housing. I was advised to bid on local homes by Chrissy's commissioners but after several bizarre 'admin errors,' a housing officer said that Chrissy wasn't 'well-placed' for general purpose social housing as she was 'unlikely to be thrown out onto the street.' If someone without a learning disability is at the point of discharge from hospital they would be moved to a priority banding..... The very few adapted properties that I've seen on the website are for the elderly only and, although Chrissy moves slowly and cautiously, she doesn't need adaptations for limited mobility. I then learned that there was a supported living panel at our local CC, which we had not been told about. Our local council's policy documents state that social housing for vulnerable adults and those with a learning disability are their priority. This hasn't been our experience and we've put in a Freedom of Information request to identify how many people with a learning disability have been offered social housing in the CC's area over the past year.

We've also made a mortgage application on Chrissy's behalf, which would be paid for from her benefits, and we're still exploring shared ownership schemes through registered social landlords. I had been left to deal with all this confusing information but now I've had enough and forward emails to the commissioners to deal with.

Chrissy finally has a social worker! Perhaps the long-awaited community care assessment will be done now. She must surely benefit from Social Services and NHS commissioners working together but why has it taken so long when the planning process has already taken place?

So, I'm still fighting to get Chrissy an appropriate care and housing package in the community, but the sting has gone out of it because she is so settled and content. This stability was only achieved by her spending time in an assessment and treatment unit and, in our view, the Government's knee-jerk reaction after Winterbourne to close down such units is misguided and dangerous. There's no doubt that big changes needed to be made, not least for assessment and treatment units to live up to their name - to assess and treat their patients - but we have much to thank Chrissy's unit for. They've brought her back to us.

I support Unique http://www.rarechromo.co.uk/html/home.asp & I'm a SWAN blogger

A Special Celebration & Undiagnosed Children's Day

When Chrissy arrived during the hottest April for 100 years, I was the proudest mum in the world. I was 23 and a first-time mum. It felt like my greatest achievement ever.

My baby looked flawless and her beautiful dark eyes seemed to take in every detail of her surroundings. In her little perspex cot on the maternity ward she waved her hands around so energetically that I called her our 'air traffic controller.'

Then the dark shadows started pressing in. Thank God we can't see what lies ahead of us.....

Like many children with undiagnosed genetic conditions, Chrissy was a failure to thrive baby. She struggled to feed and gain weight, and was floppy and sleepy - but she was a mass of contradictions. Mostly she was sunny-natured, alert and content to coo and watch the world go by but, even in infancy, she had prolonged spells of inconsolable screaming, and no one knew why. The rest is history and detailed in my book: 'Bringing Up a Challenging Child.... http://www.jkp.com/catalogue/book/9781853028748

Although we now know the cause of Chrissy's problems, she still remains quite an enigma to us and to her clinicians, despite spending three years in an assessment and treatment unit. We know her chromosome disorder causes hugely variable effects but her learning disabilities are significantly worse than most people affected by 1q21.1 microdeletion, even those with a larger area of deleted genes.

So where are we 29 years on?

We have another CPA (care plan approach meeting) coming up on Monday that we never expected to have. Chrissy has now been in the unit for over three years and is ready for discharge but despite my monumental efforts to find solutions and move things forward, she is still stuck there. The Government is very clear that people with a learning disability should be supported to live in their own communities so it is difficult to understand why there are so many barriers in place. I feel like I'm stuck too. It has been left to me to drive it all, and I now spend most of my time on this. It's the same with every major transition, eg when she went into the unit I was driven to the brink of despair along with her. Not only was I in pieces over her suffering but I fought epic battles to get her into hospital. Why does it have to be like this?

Mencap are very interested in Chrissy, and are finding it hard to understand why the situation has dragged on for so long. They are incredulous about the amount of correspondence that I've had to engage in to try and understand the barriers, and to try to move things forward for Chrissy. Her case has been brought to the attention of Chris Bull MP, who is leading the Joint Improvement Programme to move people out of assessment and treatment units after Winterbourne, and Norman Lamb MP, Minister for Care, who has asked to be kept informed of progress relating to Chrissy's case.

Our experiences are echoed by this excellent article highlighting flaws in the Government's plans to move people with learning disabilities and challenging behaviour out of assessment & treatment units into community-based settings:
http://www.communitycare.co.uk/articles/10/04/2013/119078/dont-ignore-housing-in-response-to-winterbourne.htm

Chrissy's most recent (and hopefully last for now) medication change has been from the antiepileptic, Keppra, to Zonisamide. Because she had three seizures in a row after Keppra was withdrawn, Clobazam, a benzodiazepine derivative like Valium, was added to Zonisamide and Epilim. Clobazam will be withdrawn when Zonisamide is titrated up to the therapeutic dose. Chrissy is already on the maximum therapeutic dose of Epilim. I've discussed seizure control/quality of life and my fears about the effects of medication on Chrissy's mood, health and general well-being in previous posts. Clobazam's sedative effect is dragging Chrissy down. I can't wait for it to end as it breaks my heart to see another drug stealing away her personality, and sapping her energy and intellect. I have to remind myself how far she's come - she rarely has screaming outbursts now and, as the effects of her medication wear off during the day, Chrissy is her old self again. It's a delight to see her enjoying jigsaw puzzles again, a skill she excelled at as a child.



Now Chrissy is more aware, she says with increasing frequency: 'I don't want to go back to the hospital.' I have sleepless nights, guilt trips and anxiety attacks over how she must feel living in a locked ward for so long, her suffering and disorientation from the effects of different medications, what she's gone through over the years, what the future holds for her etc. Of course I can only imagine how I'd feel in her situation but, no matter how hard I try to banish those thoughts, they haunt me. It would be such a relief to see her settled again near her family where we can be more involved on a daily basis and help with her support. It's the least she deserves.

I support Unique http://www.rarechromo.co.uk/html/home.asp & I'm a SWAN blogger