Wonky Genes. Rare Disease Day 2018

Eleven years ago an event occurred that made me Mother of Pearl.

A home birth, relatively easy, despite traffic problems meaning no pain relief at all.(Pause for standing ovation)

This beautiful third baby took us on a journey of discovery, to see if we had what it takes to join the Special Parents club. Fortunately it appears we did, which is just as well.

Nine and a half years of alternative reality later we finally had a diagnosis.

Join me on a normal morning in our household.

Six a.m. the alarm goes off. Father of Pearl is in Barcelona,with work. (Having had a full week of half term already, I was delighted to receive pictures of Gaudi’s world famous architecture while child wrangling)

Pearl is already awake and shouting loudly (she is non verbal-but vociferous).

I change her wet nappy, bung her a breakfast biscuit and an iPad,jump in the car to take her older brother to the bus station for college. (Before you phone social services her older sister is home from Uni and holds the fort.)

Back home, up date the Home School diary with the events of the half term week-forgetting to include the fact that she fell once or twice a day over the holiday, explaining the purple bruise on her behind. I should have mentioned the scratch on her tummy too, but forgot until now. I daresay there’ll be a note.

Pearl proceeds to climb into my bed with iPad (other tablets are available)  as I explain that it is no longer the holiday and she has to get dressed.

Pearl is famously bad at transitions and despises having clothes put on.The tights are OK, but something is very bothersome about the jumper and it leads her to throw herself on the floor and weep big fat, slightly over dramatic tears. After a debrief, several cuddles and a face wash we go slowly down the stairs. Slowly because as she gets taller (about 5ft now) her legs are becoming less and less predictable. I have to go down in front of her backwards. Also slowly as somehow we have got into the unwise habit of her throwing herself into my arms and biting my left shoulder, before signing sorry and cuddling and kissing my right shoulder. I do not know how I allowed this to develop,  but it has and it is what it is.

We have by this stage, left a trail of pyjamas, unmade beds, dirty nappies and breakfast biscuit wrappers behind us.We have ten minutes until school taxi arrival time. Fortunately she has got out of the right side of the bed, and sloughed of the dreadful dressing experience and allows me to brush her hair, without the need for us both to have counseling (this is remarkable)

Five minutes to get her into splints and shoes-and she doesn’t kick me in the face today-bonus!

A big kiss and she lets me put on her coat, and makes no fuss at all about leaving the house for the taxi. It is a good day indeed.

 

img_9901

Despite the relative ease of the morning as I’m clearing up I reflect on rare diseases and how this one effects our family.

Pearl has a novo mutation on GNA01. This was discovered by the Deciphering Developmental Delay study, which we took part in as a result of SWAN UK.

SWAN (syndromes without a name) is part of the Genetic Alliance, and provides support to families with children who despite a myriad of difficulties have no known diagnosis.

GNA01 does not describe Pearl’s difficulties but the gene change that produced them. It is a novo mutation, as it is new, and happened by chance during her development in utero.We did not pass it on, and statistically Pearl’s siblings are no more likely to pass it on than we were. Her geneticist did not spot it as Pearl was not particularly similar to the wider cohort of children with it.

Pearl’s difficulties, include epileptic seizures. These are rare for her and well controlled by a vary low dose of medication. Not so in the wider cohort, where seizures can be frequent and hard to tame. She does not display the uncontrolled and random moment disorder displayed by the majority of the group.She has an ataxic gait, walking  (as one Orthopedic Surgeon who went to the Bernard Manning school of tact) like a drunken sailor. Her centre of gravity is all over the place and her muscles are unpredictable, increasing in tone when she grows, while also unexpectedly giving out and causing falls. She has no recognizable speech, although she uses yes and a head shake, plus her wonderful PODD communication book. Severe learning difficulties, double incontinence, global developmental delay, poor fine and gross motor skills and a bit of autism complete the picture.

Luckily neither this list, or her diagnosis define her.

She is observant, funny, loving, thoughtful, stubborn, self possessed, strong willed and has a ridiculous sense of humour.

So what has Rare Disease diagnosis meant for us? If it isn’t who she is what its the point?

Well it has given our children peace of mind about the chances of passing it on.

We are now part of an online community of parents with children with the same condition, we can ask questions, share stories and see what the future may look like.

Most importantly we are taking part in fact gathering for the next generation of geneticists, parents and Pearls about how the disease can look.

There are thousands of children out there with Rare Diseases and no easy answers, further research is needed to smooth the way, provide evidence for therapeutic intervention.give support to families and arm the professionals with information to pass on.

It’s Rare Disease Day. I love someone rare and she is quite magnificent.

 

 

 

 

 

Summertime sadness.

In which the summer seems never ending,a biddable girl shows her assertive side,and her mother fails to step up to the plate.

The six week holiday is over,  a collective sigh of relief can be heard from homes all over the country.

A summer holiday with Pearl is generally trying. We spend the first week being bad friends. Pearl expects me to provide  days full of excitement at least as interesting as school. I expect to be able to continue with work, tidying and writing in much the same way as I do in term time. We are both stubborn and unreasonable. Oh, that’s not quite all. Every holiday I have two noble aims. Firstly I will toilet train Pearl. Secondly I will teach her how to speak. Pearl has been in the school system since the age of three. Every single holiday since then I have had the same aims. I have clearly learnt nothing from this experience. Neither has Pearl.

This holiday has been particularly difficult. I ditched the goals in the first week (there was a lot of wee). In retrospect reducing my antidepressant dose was not well timed.We did however do some amazing things (In the Night Garden Live anyone? At least as enjoyable as Benedict Cumberbatch in Hamlet last summer. Truly) I however struggled.

I had plenty of Direct Payment money saved, for plenty of support from Pearl’s two awesome  Personal Assistants, but I struggled. I was tired, so tired. Nine and a half years of special needs tired. Mr Pearlie J and I went away together overnight, child free .Still I struggled. I just did not want to come back. Pearl went out with her PAs. I did not want her to come back.

For the first time in ages I lacked flexibility, I was tired, I hated myself, I hated my life and I struggled.

Pearl I suspect is prepubescent (Worms anyone? They’re tinned) I am well into an early menopause. This is a heady combination. Being Pearl, full of hormones, cognitively challenged, full of self esteem and non verbal, led to kicking, stamping,  shouting and biting. Independence fostered at her fantastic school resulted in tremendous attempts at achievement any time I left the room to do anything as ambitious as going for a quick wee.Things were spilt, fallen off, broken, and rooms generally trashed. I most fabulous and patient of women,  had none.

If you are possessed of an assertive young person of differing ability things cross your mind when meltdowns occur.

Is she autistic like her brother?  How do I  know?   Would knowing help?

Does she hate me?

Do I hate her?

When she is 46 will she still be doing this?

Is she in pain?

Is she regressing?

How will she cope with puberty when it properly arrives?

Will any of us survive until September?

My default response to these thoughts, which race harum scarum through my head at a mile a minute is a good healthy dose of denial. This holiday someone appears to have taken my denial, and its helpful assistant emotional resilience. I only hope  they had much joy with them.

Our holiday for me was characterised by  a beautiful picture of Pearl I shared on my Instagram page with the following post.

img_4920

 

 

 

“This is the proof of the lies that Instagram tells. A beautiful picture of a glorious child taken by her stylish mother. Pearl and I left the house early, dog in tow for a secret trip to Beadnell Bay. I’m such a great mum! Pearl wanted to walk from the car, despite not wearing AFOs (splints) just crocs. She feel over, screamed, I manhandled dog, buggy and screaming dervish onto beach where she continued to scream repeatedly. At this point I noticed that she had horrible dental caries on a back tooth she never lets me brush. Feeling super crap at parenting I encouraged her to play in this hole, she calmed down, I took this picture. This was followed by renewed screaming as the sand had got into the graze, which was much worse than I realised. Bundling dog, 3 wheeler and screaming childback into the car I winded myself on a kissing gate.

Tomorrow I am putting her in bed with Dad and an iPad, while I go out for a run. Alone.”

 

On the morning Pearl went back to school,my shoulders moved away from my ears a good five inches. I missed her. I loved the fact I missed her. All the guilt and anger and fear faded away. When I look back over the holiday I know I will remember the stand out parts, not just the stand out tantrums. I’m mindful of another special boy, who did not make it through the holiday, and hold my bossy, sassy, tiring girl a bit tighter.

I remind myself how far we have come. Pearl is learning. She has changed. We do love each other, oh how this child is loved! She will learn and grow and change again.She is just 9 and her body is getting used to growing into her future womanhood.

These tricky times will be got through. Like the endless holiday, this too will pass.

 

MN-blognetwork-104-final

Belong.

Undiagnosed Children’s Day and SWAN UK,have prompted consideration of the importance (or otherwise)of diagnosis

Undiagnosed Children’s day is on the 29th April.

Did you know that approximately six thousand children in the UK with assorted Special Needs and disabilities do not currently have a diagnosis?

I learned this after Pearl’s first round of diagnostic tests at 18 months. I was astounded, surely the SEN teacher in the Child Developmental Centre was wrong? My girl was wobbly, couldn’t speak, was missing developmental milestones all over the place, and couldn’t walk. That HAD to have a name didn’t it? Pearl obviously had a diagnosis or would be getting one very soon. Oh yes.

In the interests of honesty, I’ll tell you a secret. I did not really want a diagnosis as it would prove there was a real problem that Pearl may not grow out of. I was also more interested in treatment and therapy than a name. Looking for a label seemed to imply that there was something wrong with my atypical, perfect child. Obviously if Pearl had a syndrome it would be called HGS (Happy Gorgeous Syndrome) or ‘Probably a Genius but slightly held back by circumstance syndrome’ (PAGs) for short.

So why do we all get so het up about diagnosis?

Children with SEN can struggle to fit in with the mainstream world. As you merrily bob along to the local Mums and Tots and shoehorn your child into Gym Babes (an experience I soon discarded as all the children younger than Pearl learnt to walk and graduated to Tumble Tots) it’s clear that there is a difference. We are social creatures and we all need somewhere to belong. As you realise this, and your friends are ignoring you as all you talk about is medications and hospital appointments you look around. Oh look! There is a Special Needs Community! They get it! In truth in the early years everyone I met in this community got a diagnosis and peeled off into specific support groups. I’m afraid to say that many in this community struggled with our lack of diagnosis even more than out pre Pearl friends. Hadn’t we met this nurse? Wasn’t our Paediatrician very good? Had we seen the Geneticist? Everybody seemed more interested in Pearl’s diagnosis, or lack of it, than Pearl.

So why get a diagnosis anyway?

Firstly it’s easier. When people ask “what’s her problem?” instead of replying “people who ask insensitive questions” you can give a short sharp punch, sorry, I  mean answer.

When the DLA send you the mother of all forms, you can save (some) time by putting PAG syndrome in the “cause of difficulty” box.

Importantly it may be that your diagnosis is a difficulty that doesn’t stand still, progresses, or responds to treatment. As a parent this is something you need to know. You may be able to stand on the shoulders of the giants of research and academe and benefit from their hard work.

Siblings. Those people who have learnt more about disability than many junior Doctors, they may need to know. After 3 A4 pages of rejections from the likely diagnosis club I was ready to throw in the towel. Pearl’s eldest sister, referred to in the blogosphere as “The Glory”had a very astute appraisal of the situation. At 15 she wanted to know could she have a child like Pearl? I had not even thought about inheritance. I had to put my feelings about the diagnostic process to one side for her peace of mind.

The main, overreaching reason I can see that we require diagnosis is that our society works on the Medical Model. The Professionals come in, they assess, diagnose and treat. Funding follows. We have all been brought up with this. It is the glory of modern medicine.

My preference is the Social Model, which takes everyone however able or otherwise, at face value and changes society to make it accessible to everyone in every way. Get with the programme people, we need adjustments. Make them. Unfortunately we are quite a way from this being our societal default. Until it is diagnosis will continue to be hotly pursued by medics and parents alike.

Where does that leave the 6,000? Where do they belong?

SWAN (syndromes without a name) is an initiative of the Charity Genetic Alliance UK, to support families of undiagnosed children. They are simply fabulous. Organising support pages, local groups, information sharing and giving parents the opportunity to vent and celebrate in a safe space. Importantly they also offer access to studies which will further future generations knowledge of the gene, syndromes and interventions. Because of SWAN Pearl took part in a study on Deciphering Developmental Delay, and because of that we have a genetic answer to her difficulties. Pearl has a mutation on GNA01 which has spontaneously occurred and was never tested for previously as she displayed different features to others with the condition (go Pearlie go!). This may help us learn how genes change, widen our awareness of what this particular gene is responsible for and help the Pearls of the future.

As far as this family is concerned though, Pearl is Pearl and that’s that.

SWAN_UCD_Email_Footer

Find out more about SWAN on www.undiagnosed.org.

Share the news about Undiagnosed Children’s Day on twitter #undiagnosed.

Donate by texting SWAN11 £3 (or any amount up to £10) to 70070

Follow this blog on http://www.thewrongkindofsnow.wordpress.com