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

Post-natal Psychosis, Take a Break

This is one of the most heartbreaking stories I've ever written.

All 26-year old Karen had ever wanted was to be a mum but after her second child came along, she locked herself in her bathroom and stabbed herself in the chest. She died from a blood clot resulting from the wound 3 days later.

Her mum, Carol, tells the chilling story of how the tragedy unfolded, and how the family are still trying to come to terms with Karen's cruel and untimely death. As you can see from the photo, she has left behind two beautiful little girls.

Post-natal psychosis is an extreme psychiatric illness affecting as many as one of 500 new mums. It's thought to be linked to sudden hormone changes and lack of sleep but no one really knows for sure. Symptoms include paranoia, delusions, hallucinations and severe mood swings - and it can come on suddenly. A psychiatrist who specialises in the illness says that she has seen women go from acting normally to totally psychotic in a matter of hours.

For help & advice contact the Pre & Post Natal Depression Advice and Support helpline on 0843 2829 401

Mosaic Down's Syndrome - My Latest Real Life Story

I first wrote about this rare form of Down's Syndrome for that's life! several years ago. Then in 2011 I heard about Claire's fascinating story, and wrote it up for Essentials Mag. Then it went in the Daily Mirror and now it's had a 3rd showing - this time in Bella Magazine!


Few people have heard of the condition, where someone has two or more types of different cells in their genetic make-up, It's often missed in standard genetic tests. Like mosaic patterns formed from many small pieces, Claire had two or more types of different cells in her genetic make-up. Around 13% of her cells had the extra chromosome 21 found in the more common form of Down's Syndrome, & the rest are normal.

When Claire’s mum, Beverley, gave birth to her, she thought Claire was a normal baby girl but over the years she became increasingly difficult to manage. Despite having a son a year younger than Claire who was fine, Beverley blamed herself & wondered where she was going wrong. Eventually, just before Claire’s 11th birthday, Beverley pushed for medical tests. Claire’s doctor organised blood tests to check her DNA and she was found to have Mosaic Down’s Syndrome, which is diagnosed in around 2% of people with Down's Syndrome.

Most mums discover their babies have Down’s Syndrome during pregnancy or soon after birth, & the news can be devastating. All Beverley felt was relief that it wasn’t her fault & Claire wasn’t a naughty child. Claire was told about her condition when she was diagnosed &, gradually, over time she came to understand what it was. Now she wears her Mosaic Down's Syndrome like a crown. She raises awareness about it and supports parents on social networking sites. She has even made short films about it.

Claire amazes Beverley with her independence and achievements. She has a 2:1 honours degree in media & lives alone in a small flat near her parents. She has even flown to America to give talks on Mosaic Down's Syndrome.

Beverley is extremely proud of her inspiring daughter and wonders how many other people are living with Mosaic Down's Syndrome who haven’t been diagnosed.












I am a SWAN UK (Syndromes without a Name) blogger