Disability, Rare Disease, special needs

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.
****
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 here | RareConnect on FaceBook | RareConnect on Twitter

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

Tania Tirraoro
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