News & Events

CHROMOSOME DISORDERS AWARENESS WEEK

Last Reviewed 20/06/2018

By By SWAN UK MEMBER AND BLOGGER, lorna fillingham - http://awheeliegreatadventure.wordpress.com

Eight years ago my beautiful daughter, Emily-May, made her arrival into the world. I knew that my world had changed; she was the one that made me a mum. I jumped into the new world of baby groups with relish, we wiggled and giggled, made new friends, watched as their babies achieved their milestones and waited for my daughter to do the same. And waited, and waited, and waited …

My daughter, for her part was doing her best, trying to sit, but unable, she spent hours upon hours upon hours doing the equivalent of baby abdominal crunches, her legs hyper extending before her. It was not until the six to nine month health visitor check that it really began to be obvious that Emily-May was unable to do things that many babies less than her age did with ease, and we were finally referred to a paediatrician. On examining her, he said that it was likely that she would have physical and learning disabilities, but we would need to watch and wait to find out how severe these might be. She was labelled as having global development delay (an umbrella term for a child that is not meeting their milestones); this would be the only label that she would have until she was seven years old.

 

We were offered no support at this time – we were left to walk out of the appointment into a whole new world, no leaflets, no contact numbers for people we could speak to – it was very much a case of being very much left to fend for ourselves …

We began to get more and more appointments. Emily-May was already under an audiologist as she consistently failed to pass the standard hearing tests (she would be making too much noise, or she would pull the earplugs out, or be too unsettled to try). But now we were also seeing the physiotherapists, occupational therapists, we had portage early learning for a few months, and speech and language therapists. She had tests done, she was prodded and poked, bloods were taken, none of which provided a satisfactory answer as to why she was missing her milestones. We were eventually seen by a geneticist, who took pictures, and gave us information regarding the Deciphering Developmental Disorders (DDD) Study. We were given sample pots to spit in and they were sent off. It would still be a few years before we would get a result, and there are many families out there that are still waiting.

 

Whilst all this was going on, we still attended the playgroups. People started asking what was wrong with my child (the phrasing of this still irritates me today, I would turn it round and say: ‘do you mean what condition does she have?’). I would then have to explain that we had no diagnosis, but that she was delayed in meeting her milestones and was still undergoing tests. People were surprised that the doctors were unable to give us answers, and often would give us their own opinions …

 

Life continued, the tests diminished. We welcomed another child, Thomas, into the world. We discovered a support network, SWAN UK, which supports all those families who have undiagnosed children. SWAN UK has been incredible in letting us know that we are not alone, and gave us the opportunity to meet other families who were in exactly the same boat, and going through the same challenges. My daughter remained a swan (syndrome without a name) for another couple of years.

Then last year, the almost unthinkable happened. After waiting for seven years, we finally got a diagnosis. We were called in to see the geneticist. A result had come up from the DDD study. Emily-May was diagnosed as having Baraitser-Winter Syndrome. There were only 50 documented cases worldwide at that time, and, of those some have a different variant to Emily-Mays.

 

So has a diagnosis changed anything? Not really. We have a label. But because it is so rare, we still have no real prognosis as to how this will affect her in the long-term.

 

We know that it occurred spontaneously in her (de novo). But she remains the same girl as she was the day before we got the diagnosis: a happy little girl, who loves horse-riding, Brownies, the wind in her hair and the sand between her toes. She is the girl with the infectious giggle. The girl she was always meant to be, who we love to the end of the world, and always will.

WOULD YOU LIKE TO SHARE YOUR STORY AND HELP RAISE AWARENESS OF UNDIAGNOSED GENETIC CONDITIONS?

EMAIL: INFO@UNDIAGNOSED.ORG.UK.

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