Special Needs Jungle Drums!

Some great stories, news and blogs from the last week, curated from us, just for you.

  1. This is next week – so still time to mark the week!
  2. Congrats to Debs at Aspie in the Family…
  3. An interesting first hand account.
  4. Congrats to Renata and Swan UK on their first birthday
  5. A lovely post from Susan
  6. Get ready to expunge the word Asperger’s from your vocab! I’m off to a workshop on Monday with Tony Attwood & Carole Gray and I’ll be asking him about DSM V categorisation – will he need to change his book title?
  7. A very interesting article, not to be missed.

Our son’s rare disease sparked a search for answers- and support

Tania writes:

I am often contacted by desperate parents searching for help with finding the special needs solutions for their children.

It’s something that Helen never imagined herself having to do. She had never had to worry about SEN support for her son Jake, until he became a teenager and his health began to deteriorate.

He has since been diagnosed with a rare disease, Kleine Levin Syndrome. From having a healthy 13 year old, Helen found herself searching for answers, support and a way through the jungle of health, social care and special needs services.

Here is her story….

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We never thought our world would be turned upside and we would suddenly be fighting for our son’s right to his education.  Our son Jake, was a healthy, happy 13 year old with predicted A grades at GCSE when he got sick.

He got sick slowly, in an unexpected way, it was so difficult to explain – but his behaviour was no longer normal.

kleineHe slept for a longer periods of time, he fell asleep in shopping centres, on woodland walks in the rain, every time we got in the car – and at the same time he lost his confidence, he did not know his address, what day it was, some days he could barely speak – yet nothing had happened to him, he had not had an accident or even a bad virus – but suddenly he was not the son we use to know. It was so much more than sleeping, but sleeping was the most obvious symptom and the easiest to talk about.

We were being told, don’t worry he is just a teenager – teenagers like to have lie-ins, sleep all day and barely grunt at you, and they can change into teenagers overnight! But teenagers still leave the house, can walk for two miles without having to sit down and sleep, teenagers can be woken and it is not like they are in a comatose state with pounding headaches and having hallucinations when awake, and although teenagers might choose to ignore you, our son just didn’t hear us some times.

We saw doctors, we saw neurologists, we visited CAMHS, we made our own private referral to London and we had the same response – it is very interesting. Who wants to be interesting? We wanted to know when our son would be back.

We noticed that despite seeing all these doctors and reading the reports about Jake’s condition, they were missing the point, they were not seeing everything we were seeing; the points we felt were key to his condition.

We wrote to our GP and our neurologist and told them in a detailed letter what they were missing – it was a hard letter to write, to describe everything our son could no longer do – but this letter struck gold, it was the best thing we ever did up to that point.

A week later we had an appointment with a paediatrician who, from our description and the tests he had had so far, suggested Jake  may have the rare neurological condition of Kleine Levin Syndrome.

We had never heard of KLS – we read up on it, Googled for information and learned that it was episodic and that the episode would end, but may repeat. Shortly after that, Jake was back, it was nearly Christmas and his last memory was the summer holiday. For a while, he was the bright young person who we had before – until it happened again.

It has happened a lot since. The episodes have been a variety of length from one to 118 days, with gaps in between episodes from 1 to 33 days – KLS affects Jake severely.

We went from 100% attendance to 30% at school and we realised that when unwell, Jake was cognitively unable to learn, he could barely write his name. Yet when he was well, he was a bright, able student who had just missed loads, with topics moving on at school so rapidly he could barely catch up.

In Year 9, we focused on just his core subjects, dropped the ones he was not continuing with and school agreed to half-days to reduce the stress, and for him to do catch-up work in the mornings. We muddled through, thinking it was all okay.

We’re in Year 10 now and KLS continues. Jake is still missing huge chunks of time and we think he is doing OK. But when his  first exams arrived,  Jake panicked because he realised he has not been taught what he needs to know to succeed and that to catch up involves him copying from books, working independently but on some days doing nothing as no one knows what work to give him because he has missed so much. We also asked the school to put in writing what would happen if he was ill for exams and missed them.

In all this time we have not been chased for school attendance as they have marked him as ill and school have looked to us for guidance – but we don’t know what the options are.

After having the exams and then having five weeks off for another episode, Jake returned to school to watch a video all day as they had no work planned and we saw “red” –  there has to be more help for him.

We discovered the Local Authority Inclusion Services, who might be able to help Jake have catch up education. They had not been told about us and could do nothing without medical records and a referral.

We sent them all his notes and they contacted school. At the same time we began researching education in more detail and although we had an IEP, we had no real support or action, so after broaching the idea with my paediatrician, she agreed that applying for Statutory Assessment might be a good idea.

We also approached local colleges to find out about his post-16 options and they had been in touch with school… and we found SPecial Needs Jungle and bought the book.

Two weeks after we got to this point, we were in shock; the Maths teacher rang us at home to ask if he can put Jake into exams early, so he has a chance to sit his GCSE’s twice, and he has had some 1:1 catch up in Maths.

His Science teachers wrote to us and invited him to attend a ‘catch up’ assessment day in the Easter holidays if he was well enough and the English team have delivered a copy of his curriculum, the books he needs and some research guides to my door at 4.45pm in the evening. We have also had our first meeting with our head teacher (we have dealt with the head of year and SEN department to this point), who is looking into offering us five hours of 1:1 support a week when Jake is well, looking at reducing his time-table further and offering us easier GCSE options.

All because suddenly we have asked for more support – we are still applying for a Statuary Assessment – we may only have four terms left, but Jake deserves the opportunity to achieve the best he can, and we know school were in the wrong, as otherwise the arrival of the Statuary Assessment notification would not have had the reaction it has had.

We have done a detailed report for the Local Authority, the form we received allowed for just a small paragraph, instead we have sent a lot of evidence of Jake’s condition and we can only hope they read it and  support us.

Kleine Levin Syndrome is hard to understand – if affects only around 1000 people world wide, most patients go undiagnosed for 7 years, and most grow out of the condition within 20 years, and go on to live a normal life, but in the mean time are robbed of their teens and twenties – have little or no qualifications and struggle to be understood…. we are hoping our case will be different.  To follow our story – then visit our parents guide to KLS – www.kleineLevinSyndrome.co.uk

Here is our video about out story:

Raising awareness of children’s conditions so rare, they’re undiagnosed.

Tania writes:

Recently, when Debs & I went to Westminster, we met Renata Blower, a Mum who blogs about her life as the parent of a child with an undiagnosed rare disease.

RenataI was impressed by Renata immediately, as she has the tenacity, courage and drive to make a difference that I see in those who find themselves negotiating a very different parenting journey to the one that they originally envisaged.

Renata’s son, and to a lesser extent her other two children, have such a rare condition that it has no known diagnosis. She is working with SWAN UK (Syndrome Without A Name), a project of The Genetic Alliance UK to highlight today’s first ever Undiagnosed Children’s Awareness Day. Below is some of Renata’s story and if you’d like to read her blog in more detail, I will add the link at the end.

RareConnectTo coincide with Undiagnosed Children’s Awareness Day, a new community forum is being launched today on RareConnect, the very excellent platform hosted by EURORDIS and NORD Rare Diseases organisations that brings together people from around the world with specific uncommon conditions to share knowledge, support and experiences.

In this, their 40th Community (congrats!) RareConnect have partnered with SWAN UK, SWAN USA, and the Wilhelm Foundation to create a community especially for undiagnosed brain disorders. This community will be a place for caregivers of children with undiagnosed brain diseases a place to connect and share experiences across the five main European languages.

There are two types of Undiagnosed Brain Diseases. The first is ‘Stagnant’ where children are very sick from a very young age often at birth. They have severe congenital dysfunctions in the development of the brain. The other, ‘Progressive’ is where children are usually symptom-free at birth. Some of them have symptoms that are not related to a severe brain disease. At some point in their childhood, they start to exhibit different types of symptoms that worsen and often progress into a very complex neurological profile.

These Diseases are often fatal. To read stories of families affected by undiagnosed brain diseases, visit: https://www.rareconnect.org/en/community/undiagnosed-brain-diseases
For any parent who has no easy way to describe their child’s condition, never mind a proven pathway for treatment, finding others to share their frustrations and difficulties with is vitally important.
Here now, is an extract from Renata’s story.
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On Saturday 13th April 2013 I will be celebrating Undiagnosed Children’s Awareness Day, probably at home, perhaps with an acquired bit of Easter chocolate, but undoubtedly with a huge sense of pride.

UCAD-widget-logo1I guess I don’t talk that much about Dominic (and of course Elliot and Lilia as we know they have a milder form) not having a diagnosis. I accepted a long time ago that finding an answer to why this had happened and what it meant we might face in the future might never happen.

Although the unknown is one of the hardest things an information junkie like me could possibly be asked to embrace, it is probably what has saved me. It is only when a new test is suggested that my compulsion to throw myself into hours of late night research starts again. Thankfully this doesn’t happen that often any more. I say thankfully because it’s exhausting, physically and emotionally, to be endlessly poised to find out whether your child is about to be handed a death sentence or a not, and geneticists aren’t doctors who are in a rush, so you can be driven mad by worry but then have to wait for a year for a follow-up appointment to find out the results of the tests. If the test results don’t go missing somewhere along the line that is.

Living in limbo with this level of anxiety about the unknown is disabling in itself, planning for a future you don’t know whether you’ll ever have leaves you scared to makes plans but racked with guilt if you don’t. At some point you have to make a decision to let it go but accept that it will lurk like a dark shadow over ever illness, every appointment, every form you fill in and every conversation about your child’s (unknown) future.

Tests to try and diagnose Dominic are few and far between now quite simply because we’ve done them all. The conclusion, if you look at the results printed in his notes, is that Dominic is normal. Ahh, I love that word as it holds so much importance and yet is so often meaningless. Dominic’s version of normal, the ‘there is nothing wrong’ test results, are in conflict with the five volumes of Great Ormond Street Hospital notes and the child that is tube fed, having growth, blood sugar and thyroid problems (linked to a small pituitary), unable to stand or walk, hypermobile and tires incredibly quickly (for a full list have a look here).

In fact the only test that has shown any issue is an EMG (electromyography) which tests the muscles and nerves to see if they are working properly. We found that his muscles were normal and his nerves were normal, however they did eventually discover that the communication between nerve and muscle (at the neuromuscular junction) wasn’t working as it should (after disbelief lead them to repeat the test 5 times). Of course all the testing for the conditions that are known to affect the neuromuscular junction came back… you guessed it…normal, and a muscle biopsy (his second) came back… yup… normal again! At this point most medical professionals shrug, or scratch their heads before giving up trying to figure it out… so feel free to follow suit.

This has been going on for 6 and a half years. If I was still on tenterhooks for a diagnosis after all this time I would be sat in the corner twitching… well far more than I am currently. Our only hope for a diagnosis is the Diagnosing Developmental Disorders study, which is trying to create an online catalogue of genetic changes and what problems they cause for children. So the answer we get might get would be little more than a string of numbers and letters locating where the genetic code has hiccupped. Even so it would answer the question ‘why’ Dominic has the difficulties he does, even if it can’t tell us much more about what to plan for in the future– at the moment.

I say at the moment, because science never stands still and advances in genetics happen almost weekly it seems. I find it hugely exciting to be part of something that I truly believe will change the way complex children are diagnosed and something that will help us begin to understand the code that makes us who we are.

You can read this post from Renata in its entirety, and please do, at this link  

Below are some more links you might like (of course you will!)

Renata Blower on Twitter  | Just Bring The Chocolate on Facebook | SWAN UK on Twitter | Swan UK on FaceBook

You can find out about the other 39 RareConnect Communities hereRareConnect on FaceBook | RareConnect on Twitter

Read more posts from parents of Undiagnosed Children at Renata’s Blog Link Up

Rare Disease Day: How Dan’s rare disease didn’t stop his mainstream education

facebook-profileRare Disease Day is at the end of February, with the theme ‘Disorders without Borders’. In Europe it’s coordinated by EURORDIS, the European Rare Diseases Organisation.

Many children have special needs because of a rare disease that may present extreme difficulties with being included in mainstream education. Many others, however, whose condition is physical and not a learning disability, simply need support to help them manage the classroom environment on a practical level.

One person such as this is Dan Copeland. I met Dan through my work with DysNet Limb Difference Network. Dan has TAR Syndrome and was only the 18th person recorded in the UK with the disorder. Despite his physical difficulties, Dan, from Liverpool, impressed me with his cheerfulness, humour and can-do attitude.

Dan, now 23, is a student and works part-time as a DJ. Below is the first part of his story, with a link through to the remainder that’s hosted on the RareConnect DysNet rare disease community.

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Dan Copeland

Dan Copeland

My name is Daniel Copeland and I have a very rare syndrome called TAR syndrome which is short for Thrombocytopenia with Absent Radius.

This means I have a low platelet count which causes me to bruise and bleed more frequently and when my blood count is low it causes me to catch viruses more easily than others. I also have no radius bone in my forearm, the rare thing with this is the fact in most genetic cases if the radius is not present then neither is the thumb. But with TAR there is a thumb, although the tendons and ligaments are connected to the ulna bone which causes the wrists of the affected to be turned inwards.
As so little was known about my syndrome as a child, initial diagnoses from knee and hand specialists were not good, telling my parents I would be unable to do basic things from feeding myself to dressing myself. When I was due to start nursery and primary school, the boards were trying to push my parents into sending me to a special school even though all my problems are physical and not educational.
Through my whole educational experience, fitting in was difficult when I started at a new school and college but I quickly integrated into a normal social lifestyle. There were some other disabled children in my school but not many (about six in my school year) so integration with able-bodied children was extra important so as not to become isolated…

Read More of Dan’s story on RareConnect

 

Read our second Rare Disease Day post: My son has Ehlers Danlos Syndrome

Research, articles & opinion – special needs news from this week

Tania TirraoroAn incredibly busy week, so I missed my Wednesday post as I was in Brussels to speak at a EURORDIS workshop on social media for rare disease organisations. I was describing how we set up the social media for DysNet, the new Limb Difference Network for which I am PR & Community Manager.

It was a really interesting and exhilarating day, hearing from other organisations such as Bee For Battens, a charity set up by a family who are dealing with the loss of one child and the illness of another with Batten’s Disease. As is so often the case, such terrible adversity and tragedy prompts some people not to hide away but to reach out and help others in a similar position.

We hear so often today about greedy bankers, self-interested politicians and welfare cuts to the most vulnerable.  We hear nowhere near enough about people who, despite their own difficulties, put their energies into offering care and support to those in need. These are the inspirational people that newspapers should highlight on a daily basis – it would, I believe, have a positive effect on the nation as a whole.

And so… I’ve been busy, but not too busy for the ever-popular Friday round-up. Please do read my post about launching DysNet and another inspirational person, Geoff Adams-Spink, if you missed it earlier in the week. Enjoy the sun!