there’s a lot we don’t know about genetics!

(An open letter to Heidi Allen MP & Daniel Zeichner MP)

Dear Heidi Allen & Daniel Zeichner

All party parliamentary group on rare, genetic and undiagnosed conditions

Today I’m joining with a group of bloggers to write to our MPs to ask them to  join the All Party Parliamentary Group (APPG) on rare, genetic and undiagnosed conditions.

IMG_3307This is Twinkle, my gorgeous, happy 4.5 year old little girl who just happens to have a genetic condition that all the standard NHS tests (and we have had a lot!) have so far been unable to identify.

I just don’t know where all the time has gone since our perfect little bundle was born and our ideal newborn baby bubble was quickly burst by an echocardiogram, a skull x-ray and some chromosome blood tests.  The beginning of a very confusing time and a long list of hospital appointments and tests, over many months and years, as each came back ‘in the normal range’, ‘clear’ or ‘negative’.

Living without a diagnosis can be very isolating, and especially as Twinkle was our first child, it was hard to tell if symptoms, or more accurately thing’s she wasn’t able to do, were anything to be concerned about. As the tests seemed to say otherwise, we often felt like neurotic first time parents.

It wasn’t until we were entered on the DDD study (Deciphering Developmental Disorders) and found the SWAN UK community (when our little girl was around 18 months old) that we  really acknowledged we were not a typical family.

Twinkle has a long list of symptoms all of which can also be attributed to many other conditions so they don’t really help give a full picture of her condition and mean that we do not know what the future might hold (in some ways liberating, as there are no preconceptions) but can also be very difficult – Will she walk? Will she talk? Will she be able to live independently? Will she develop any associated health problems? Will she have a shorter life!!!?

It’s quite likely you will have a number of constituents affected by a rare, genetic or undiagnosed conditions. It is thought that about 50% of children with learning disabilities and 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties.

Rare and genetic conditions are a significant cause of illness – 1 in 17 people will be affected by a rare condition at some point in their life and 4 in 100 babies in the UK are born with a genetic condition. It is estimated that 6,000 children are born a year with a genetic condition that will remain undiagnosed.  SWAN UK made this lovely little film for undiagnosed children’s day earlier this year to helps to spread awareness of just how common this is:

It would seem that we just don’t know how much we don’t know about genetics!  There is such a long long way to go in this area of medical research and, in the meantime, a long way to go to make sure it is acknowledged across the board that even if the tests don’t find an answer, it doesn’t mean there’s not condition there, and that the family affected still needs the same level of help, support, treatment and therapies as those who are diagnosed with known conditions.

I am writing to you both as my constituency MP, and the MP of the constituency where my little girl will be attending special school.  As we fall the remit of both of your constituencies for different aspects of Twinkle’s care I felt it was important to write to both of you, and of course having MPs of different parties involved in these groups is so important!

The key aims of the APPG will be to increase awareness of rare, genetic and undiagnosed conditions in parliament and help to ensure that patients and their families, families like ours, who are affected by these conditions, have access to appropriate care and support.

Having had our brief 3 seconds of fame at the end of last year! (We and another local family were interviewed as a families potentially affected by a new genetic test being developed here in Cambridge).  I know that Cambridge is very much a centre of excellence in the area of genetic research and very possibly the source of amazing discoveries in the future which will help families like ours! It’s seems to me that this is not just a subject close to our family and our SWAN UK & RARE DISEASE UK community’s heart but also a subject right up Cambridge’s street! I do hope you feel the same and will consider joining the APPG.

The charity Genetic Alliance UK will be providing secretariat to the APPG, so please get in touch with them by emailing emily.muir@geneticalliance.org.uk or by calling 020 7704 3141, and they can provide you with additional information.

I very much look forward to hearing from you.

Yours sincerely,
Vaila & the Morrison family

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