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: My son has Retinopathy of Prematurity

facebook-profileToday, 28th February is Rare Disease Day. It’s an awareness raising day for the millions of people around the world who are affected by rare conditions. Most suffer from lack of investment in research and drug development because there simply aren’t enough people diagnosed to make it a profitable enterprise for pharmaceutical companies.

Today on Special Needs Jungle is the third of our series of posts about rare diseases as our contribution to raising awareness. You can find links to the others at the end of Deb’s moving article about her beautiful son J, who has a rare eye condition that means he cannot see.

Debs writes:

rosie and jamie 005

My twins were born three months early.  After an emergency arrival into the world, R, my daughter “just got on with it” (as the NICU nurse described it).  However, her brother, J, was not so keen to be here early (he still doesn’t like early starts) and needed more intervention.
As a result of their prematurity, they both developed Retinopathy of Prematurity (ROP).  This is the abnormal development of blood vessels in the retina of the eye and the condition has five stages.  My daughter was diagnosed with borderline stage 1/2.  My son was initially diagnosed with Stage 3 but this quickly developed to  stage 5, which in layman’s terms means his retinas have detached.  He has no vision or light perception.

ROP develops in 16% of all premature births (with this rising to 65% in those with a birth weight < 1250g) however, severe ROP (stage 4 or 5) is very uncommon – less than 500 children per year.

I still vividly remember the night we received the diagnosis.  We were told this was a routine eye examination for premature births (with very little other detail) but as soon as the ophthalmologist was examining my son, I knew by his reaction that something wasn’t quite right.  To check for this condition, the baby has to have their eyes pinned open and I remember just listening to my son cry.

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Rare Disease Day: Son2 has Ehlers Danlos Syndrome

facebook-profileTania writes:

As you will know if you are a regular reader, Son2 has Asperger Syndrome. He also has ADD (no H in there, he doesn’t move much!)

Last year, while researching information for the forthcoming Rare Disease Day for work, I came across a case study on the Rare Disease UK site about a young woman who had struggled with a group of different syndromes, including hypermobility, Raynaud’s Syndrome and POTS (Postural Orthostatic Tachycardia Syndrome).

It was a light bulb moment…

son2eds2Son2 was born with an unstable ‘clicky’ hip that took a long time to heal and as a toddler, he had suffered with Reflex Anoxic Seizures, a frightening condition where shock or pain can cause the heart and breathing to suddenly stop. The sufferer then has a seizure-like episode, with eyes rolling, the skin going grey and then falling into unconsciousness.

In fact, as they are not breathing and their heart is not beating, they are clinically dead. After some seconds, thank God, adrenalin always kicks in, restarting their heart and breathing and they come round.

RAS is caused by an inappropriate response of the vagus nerve triggering a cardiac event. It is a rare heart arrhythmia. The brilliant charity that helps people with RAS and other blackout conditions is called STARS and I was involved with helping them for a long time.

Son2 would have these episodes up to three times a day, usually triggered by anxiety or frustration. By the time he started school, the attacks had diminished into ‘near misses’, where an attack would start but we were usually able to get him to a horizontal position to help minimise the effects and equalise his blood pressure.

It was, as you can imagine, a very distressing time, but as with everything we have encountered as parents, we made it through, just taking every day as it came. Of course we knew nothing, then, of what was to come in the years ahead with both sons’ Asperger’s.

As Son2 grew older, his Raynaud’s would cause his lips to turn blue when he got cold and he began to suffer from joint pain and dizziness. We did not connect the different problems he experienced into one larger whole – why would we, when they were so different? We were worried that his dizzy spells were signalling a return of the RAS, which, if it goes away in childhood, can recur at puberty.

But when I read the case study, everything fell into place. The young woman had eventually been diagnosed with Ehlers Danlos Syndrome. I was convinced this is what Son2 had, so I decided to do some more research and follow it up with my doctor.

My research revealed that EDS has six different types of varying severity and the difficulties experienced within each sub-type can also affect people in different ways. EDS can cause multiple dislocations, joint pain, fatigue, easy bruising and stretchy, fragile skin among many other symptoms.

RareConnectAs my work involves a forum run by RareConnect, and I knew they had an EDS forum, I contacted my colleague there, Rob, who helpfully gave me some numbers and links for EDS information.

As a result, I called up Lara from EDS Support UK who gave me the name of a specialist. I went to my GP for a referral, worried she might think I was an over-protective mother. Luckily, she knows me and trusted my instincts. Although she was no expert in EDS, when I gave her the information I had and the name of the specialist, she was happy to refer us.

Soon after, we went to see Professor Rodney Grahame, who is a world expert in EDS in London. He carried out measurements and a physical examination of Son2 and listened closely to his medical history before agreeing that he did, indeed, have EDS Type III.

edsSon2  already had OT at school and now also has a physiotherapist, we have had a special programme designed for him at our gym (he is 13) and he is waiting to see another specialist paediatrician regarding a further potential issue that Professor Grahame noticed.

We saw the Prof. privately for speed, although he also sees patients on the NHS. All Son2’s other treatments are NHS and so we are on a waiting list.  For the physio, the letter instructed us to wait six weeks from the date of the letter before we could ring up for an appointment!

The EDS RareConnect forum that I mentioned, which is run by EURORDIS, the European Rare Diseases Organisation, has lots of information, research articles and the chance to connect with others. It’s also multi-lingual.

If anything I have described here rings a bell, do check out the links in the article to find out more. It’s quite amazing to me that because of work I was doing to help others, I ended up discovering something about my own son that will make his life better (even potentially longer) and my great thanks go to Rob Pleticha at RareConnect and Lara Bloom at EDS UK for helping me on my way.

Rare Disease Day is on February 28th. You can find the Facebook page here

If your child has been diagnosed with a rare condition, the National Children’s Bureau has an information support sheet. You can download it as a PDF here

Autism updates, SEN stories and happy holidays!

My top story this week is just out – a 90,000 drop in the number of children identified as having SEN. Do I think that SEN is on the decline? Of course not. The report in the TES says, “Brian Lamb, who led a review of parental confidence in the SEN system for the last Labour government, also identified training and funding as key reasons for the drop. But he said that the most important question to ask was whether children’s needs were being met.

“It’s positive to see a fall as long as we can be sure this is because of better assessment and the removal of perverse incentives,” said Mr Lamb, who is now chair of the SEN charity Achievement for All. “I hope the fall is not because schools are not addressing special educational needs.”

This is a point that I agree completely with and was my very first thought. Read the rest of the article for yourself and draw your own conclusions.

Also in this week’s top stories include using pets to help kids with autism (something we all already knew as well) and Barnardo’s report about tackling the causes of bad behaviour and not just the symptoms – this is an issue I have written about myself before.

I also want to highlight this week’s SNJ Guest post, from Rob Pleticha at EURORDIS, the European rare diseases organisation, who regularly volunteers at camps for children with serious illnesses. The one he’s written about is Barretstown in Ireland. If you have an 18+ year old lounging about at home or on a gap year, they could do a lot worse than be a volunteer at a camp like this – and it would look great on their CV too!

So, I’m away for a couple of weeks so no round-ups until I get back, but I’ve scheduled in some great posts while I’m away to keep you company and I’ll be armed in Italy with wifi and an iPad…Happy holidays!

Volunteering: The best way to spend your summer

We’re heading off for Italy this weekend and because both boys have special needs, we’ve always rented a villa with a pool and taken their Grandma and Nonno along to help out, so that we can all have a break without worrying about potential public meltdowns.

But imagine if your child has a serious physical illness or disease that makes it difficult to go anywhere without a high level of medical support? Pressure on families like these can be immense and no one needs a break as much as them.

Barretstown, based in Ireland, is a specially-designed camp that provides Therapeutic Recreation programmes for children with serious illnesses and their families. But to make it possible, the camp needs thousands of caring and energetic volunteers every year. My colleague, Rob Pleticha, whose day job is Online Communities Manager for RareConnect at EURORDIS, the European rare diseases organisation, is one of them. He volunteers every year to help children who are living with illness or rare diseases. A short time ago, he spent a week at Barretstown and he’s been kind enough to write for Special Needs Jungle about his experience and the camp.

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You arrive the night before the training. It’s dark but the trees are bright green, the horses are so comfortable, they lay down in the pasture sleeping, and the cabins spread thorough out the grounds emit a warm glow. You sleep well in the Irish night as fresh air fills you.

You’ve come to Barretstown in Ballymore Eustache, Ireland to participate as a volunteer “cara” at an eight-day camp summer session. 120 kids from 7 countries will arrive in two days. They all share the common experience of living with a serious medical condition at a young age.

Barretstown is a member of the European Global Organisation of Serious Fun Children’s Network camps founded by Paul Newman. The five camps in the European network allow over 3,000 children from 26 countries to attend summer camp and have life changing experiences. The services are always free of charge to families.

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Launching DysNet – and how the right education helped one man make a difference, despite disability

For the past two months, in addition to my special needs work, I’ve been working on an exciting project to launch an online community network for people living with limb differences.

DysNet is the brainchild of a dear friend of mine, Geoff Adams-Spink, about whom I’ve written on this blog before. It’s aimed at bringing together people around the world affected by dysmelia (congenital limb differences) to share information, knowledge and resources. Today, Geoff writes about his life for Special Needs Jungle and demonstrates that, with the right support and education, it is entirely possible to live a rich, rewarding and independent life.

From Small Beginnings

First let me declare an interest: Tania Tirraoro the award-finalist writer who hosts this blog is a good friend and a professional contact.  She and I trained together as journalists on the South Cornish coast way back in 1988.  Back then, Tania was vivacious, tenacious and keen to get on.  More than two decades later, absolutely nothing has changed.  Or has it?

Bringing up two boys with Asperger’s has directed her considerable energies into the field of special needs education.  As someone who spent most of his childhood at special boarding schools, she has asked me to share a few thoughts about my experiences and about the current debate about special schools vs. inclusive education.

Geoff Adams-Spink

I was born half a century ago with disabilities caused by the morning sickness drug, thalidomide.  The drug left me with extremely short arms, flipper-like hands and very limited vision in the one eye that I have – the other is completely absent.

Back then, children with physical disabilities were destined for special schools – mainstream either wasn’t geared up or wasn’t prepared to gear up to support us.  My parents were told in no uncertain terms that my safety couldn’t be guaranteed if I attended the same local schools that had served my two sisters and my brother perfectly well.

So, aged five, I was packed off to Penhurst school in Oxfordshire which was run by NCH – now NCH, Action for Children.  I recently revisited the place and found it transformed.  It no longer supports children with the sort of disabilities I have.  All of the students have profound and multiple learning disabilities or PMLD.  The 26 children require intensive support from the 150 or so staff.  The cost of a place there can only be guessed at.

And this has set me thinking about the current debate about special needs vs. inclusive education.  It seems to me entirely ridiculous that anyone should assume that one approach should be adopted exclusively.  If we are, in the words of a former Secretary of State for Education to “respond to the needs of the child” there is surely room for a mixed economy.  Plenty of children – myself included – would probably manage perfectly well in mainstream education with a few minor adjustments.  Others would be left in the margins and need the specialist support of staff who know how to encourage children with different needs to achieve their potential.

This is not simply about physical compared with learning disabilities: two children with, superficially, the same level of impairment could well require different responses from the system.  My nephew, for example, has Asperger’s and managed quite well in mainstream education.  But he has the benefit of supportive parents who have equipped him with the knowledge to know how to regulate his behaviour and manage his condition.  He’s also a big strapping lad who has no shortage of confidence.  Another child with the same level of Asperger’s may well struggle in the same environment.

Is there life after special education?  You bet!  I out-grew Penhurst quite quickly and was sent to another boarding school aged eight.  This establishment had an approach that – at the time – was quite revolutionary: that disabled children (the majority were vision impaired though some had physical disabilities as well) should be encouraged to acquire certificated qualifications.  I left the place after nine years with eight O-Levels and went on to study for A-Levels at an FE college and then on to university.

So how have mine and Tania Tirraoro’s paths crossed again?  Tania is now an expert in the use of social media.  After 22 years working as a BBC journalist, I am now Chairman of a European organisation that represents people with limb difference.  We have an ambitious project to create a global network of those affected by dysmelia (as limb difference is officially known) and to link this network with a knowledge base and another network of dysmelia experts.  Spreading the word using social media is a no-brainer.  And our choice of Tania to establish our social media networks to help us achieve our goal was equally simple.

On Monday May 21, Tania is helping us to launch DysNet – an online community that will help people to conduct conversations in five languages. We’ll have a knowledge-sharing website and a secure community forum on RareConnect, run by EURORDIS & NORD, the world’s leading rare disease organisations.

I wonder whether, when my distraught mother left me at Penhurst for the first time, she had any idea that her son would get so much from his special education.

DysNet Website  | DysNet Twitter | DysNet Facebook | DysNet G+