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Emily's Story

Martin (my husband) and I found out at our 20 week scan that we were expecting a girl. We were over the moon as we already had James who was six at the time. My pregnancy went well. Two weeks before our due date we went into hospital on the morning of 26 June 2003 and waited to have our planned caesarean sometime that day.

 

While we were waiting, there were a few complications so I was rushed in for an emergency caesarean. Emily was born 7lbs 1oz and appeared fit and well despite her low oxygen levels due to meconium being present when she was born. Over the next couple of days she didn’t feed properly and had a high-pitched cry. I just knew something was very wrong. She lost weight and was poorly. At twelve weeks she was admitted into hospital were she was fed by an NG tube. She was tested for a number of different syndromes/diseases but each time they came back negative. It was so frustrating not having a diagnosis and not understanding what was going on. Emily had a gastrostomy fitted at the age of 6 months. This was removed at the age of three as we felt that she could eat and drink and more solid food worked better than liquid nutrition.

 

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I was a registered nurse before I had Emily and looked after patients with gastrostomy tubes, which was handy! Over the years there were a number of issues that cropped up along the way;

 

Dysmorphic features

High arched palate

Low muscle tone/ physiotherapy 

Swallowing/feeding issues

Eczema

Asthma

Gastrostomy

Failure to thrive, unable to put on weight

Behind in reaching milestones

Aberrant right sub-clavian artery

Loose mitral valve

Learning difficulties

Nystagmus

Ear, nose and throat issues

Dental issues

Sensory processing disorder

Speech and Language intervention

Chronic sleep problems

Diarrhoea and vomiting almost every day

Dehydration

Reflux

Low immune system

Chronic migraines

Anxiety issues

 

We also had James to think about. He’d often ask us if Emily would die when she was in hospital. Things were (and still are) difficult at home due to worry/stress/lack of sleep.

 

Over the years Emily has had a lot of time off school due to her having a low immune system. There was no way I could hold down a job.

 

When Emily was 8 years old we took her to see an ophthalmologist who said he had seen a little girl in his clinic that morning who had Kabuki syndrome and Emily was the spitting image of this little girl and suggested we get Emily tested. I was convinced she had Kabuki after reading all the symptoms. The result came back negative (yet again). Emily was entered into the DDD study as she had no diagnosis and we were told it would be unlikely we would get one. The DDD study stands for Deciphering Developmental Disorders. The study aims to find out if using new genetic technologies can help doctors understand why patients get developmental disorders. The study is due to finish in 2015 after collecting DNA from 12000 undiagnosed children in the UK and their parents. www.ddduk.org

 

On Emily’s 10th birthday in June 2013 we took her to Disneyland Paris. It was a special birthday to celebrate for us as a family. When we came home the day after her birthday there was a letter saying that a diagnosis had been found. I rang the geneticist who said that although the first test was negative, Kabuki syndrome can now be found on another gene, KDM6A. Emily was the first of the geneticist’s patients entered into the study to receive a diagnosis and she is the 7th individual in the world who has been diagnosed with Kabuki syndrome on this gene. She really is very special!

 

We have discussed with the geneticist that because Emily has Kabuki there is a 50/50 chance of it being passed on to her children and could possibly be more severe than what she has. She could have IVF but as she has mild learning difficulties then it wouldn’t be an option for Emily. It’s heart breaking...

 

We are so grateful that Emily was entered into the DDD study and we can finally put a name to Emily’s problems.

We are pleased that now we know what we are dealing with and can understand what is going on with Emily. It is also a great help to finally find people/families in our situation. Kabuki UK has given us not only information but also support and most importantly ‘hope’. We have been to two Kabuki Family Days which have been brilliant for all of us. We have met a number of families and its lovely to know we are not alone. 

 

Emily was ill for a lot of 2014/2015. Following three consecutive blood tests for her immunity, her levels were deterioting so Great Ormond Street suggested that Emily starts weekly immunoglobulin infusions. We started the treatment in September 2015 and I have been trained to administer this at home. This treatment has greatly improved Emily’s overall health and she has spent more time at school. However as this involves two injections once a week on a child who is completely freaked out by needles this isn’t easy. The treatment involves regular blood tests and monitoring for 48 hours afterwards. Emily has been at her MLD secondary school for nearly 2 years now. School have been brilliant with keeping an eye on her and providing support/therapy surrounding anxieties and sleep issues. She struggles with walking long distances as the hypermobility is more of a problem these days. She loves riding her bike, singing, shopping, swimming, cooking and anything to do with X factor!

 

Caroline Evans April 2016