© 2017 Kabuki UK. 

Site map; www.kabukiuk.org.uk/sitemap.xml

Registered charity England and Wales 1150972

Lucy & Amelia's Story

We were told during my 12 week scan that I was expecting twins. To say we were shocked was an understatement! We had not been expecting it at all. Well that was just the beginning....

 

As the girls had separate placentas we were told they were non-identical (this is later disproved). During the 20 week scan a problem with twin 1's heart was detected. We were sent to Evelina Children's hospital at St Thomas's in London where a serious heart defect called Hypoplastic Left Heart Syndrome was diagnosed. The outlook was bleak and we were offered a termination which we refused. 

 

After a difficult and traumatic birth the girls were born at full term on 19th Feb 2007 –Lucy at 5lb 11oz and Amelia at 5lb 2oz. They were beautiful!!! Lucy's heart condition was confirmed and she was transferred to paediatric intensive care at the Evelina. She had open heart surgery at 4 days old, at 6mths old and at 3 and a half years old. These were very traumatic and stressful times, and we very nearly lost her during her second stage surgery. The memories of these times are a little sketchy and take a while to come back to me. I think as they were such difficult times I switched onto autopilot to get through it. 

 

 

1/17

Lucy was discharged from hospital following her first surgery at 6 weeks old. The early days with the girls at home were indescribably difficult. The girls were sickly and found it very difficult to feed. They couldn't breast feed, and took an hour each to take the smallest amount of milk from a bottle, which they often subsequently threw up. It was exhausting and demoralizing.  

 

Due to Lucy’s heart condition and the strain her feeding difficulties had on her heart, and the concern of the lack of calories Lucy was fitted with a Naso-gastric tube at 7 weeks old. She was tube fed like this until she was over a year old. It was hard to deal with. We were constantly back and forth from the hospital, and Lucy was on her pump feed for most of the day with a 4 hour break at night. And still her reflux was so sever she was constantly vomiting. We rarely slept!

 

In the meanwhile Amelia’s feeding problems were paled into insignificance when compared to her sisters. She was the ‘healthy’ twin. Whereas I can see now just how sickly and difficult to feed she was, but we were first time parents and so occupied with Lucy’s heart condition and the day to day issues that we didn’t press for any extra help with Amelia. Besides she was always seen by Lucy’s doctors and benefitting from any tips they had for Lucy regarding feeding. 

 

The girls’ development was slow. Amelia started to crawl when she was about 16 months old, and she walked when she was just over two. Lucy really struggled. She started crawling when she was about two and a half, and she started walking just before her fourth birthday. 

 

We often had problems with the girls getting sick with colds/ viruses. When they started nursery they were extremely prone to catching the vomiting and diarrhoea bug (not fun!). Amelia started to get persistent ear infections when she was about two and a half. She got one ear infection which started in Jan 2010 and lasted almost a whole year! After what seemed like hundreds of trips to the local hospital, a couple of minor exploratory procedures under general anaesthetic and a CT scan she was diagnosed with a cholesteatoma in her left ear. This is a rare form of tumour (benign). This diagnosis coincided with Lucy’s third stage heart surgery. It was a very difficult time. Especially since the girls had a new baby brother! 

 

Amelia had the tumour removed under general anaesthetic in Dec 2010 aged nearly four. After a couple of days in hospital we went home relieved it was over. She has a conductive hearing loss in her left ear now as they had to remove most of her middle ear along with the tumour. There is also the possibility it can grow back so she has regular ENT appointments. She also still gets frequent ear infections in her right hear which render her very deaf due to the hearing loss in her left ear. Unfortunately Lucy also gets frequent ear infections; it seems that over winter at any point in time at least one of them has an ear infection. 

 

Over the years we did have various doctors enquire about Lucy and ask whether anyone had suggested genetics testing. No-one had specifically suggested this until we met a new paediatrician in early 2011. She surprised me by commented that she was certain that there was an underlying genetic cause for Lucy on account for her heart condition, her developmental delay, and her unusual facial features. 

 

She suggested a genetic test for Lucy. I was confused! What about Amelia? How could she explain Amelia’s health problems and delay? Could she also have a genetic disorder? It seemed unlikely that they could both be suffering from the same genetic disorder if they were non-identical twins. 

 

In the end she referred them both and a few months later we met with the genetics consultant. After consideration she gave us the expected diagnosis of Kabuki Syndrome for them both. However the chances of them both having this if there were non-identical twins was remote, so the first thing she did was a test to see if they were in fact identical. A couple of weeks later this was confirmed! It seems that they are a rare type of twins who develop separate placentas. I found it very difficult to get my head round this. Whilst they do look alike I had always seen them very differently.

 

After more tests a few months later in Nov 2011 the diagnosis of Kabuki Syndrome was confirmed. We are still getting our heads round this. It is very difficult to accept that both of the girls are permanently disabled. The diagnosis however perfectly fits. They have many of the traits including the facial features, heart problems, hearing problems, ear deformities, palette deformities, hypertonia and hypermobility of joints, foetal finger pads, developmental delay, learning difficulties and autistic traits. 

 

The girls are now 6 years old (April 2013) and they are in Year 1 in separate classes at a local mainstream school. The school have been fantastic and they both have a one to one teaching assistant due to their developmental delay part funded by the local authority and part funded by the school. At school they are quiet, and no way near as advanced as their peers. They are behind with their reading and writing and their general comprehension. They find it hard to communicate with their peers, and difficult to form proper friendships. Despite this they are happy to go to school and are making slow steady progress. We have been warned that at some point in the future their placement at mainstream school may be readdressed in favour of a specialist facility. Until then we are quite content to continue as we are, they are happy at school, always smiling and are very popular.   

 

Life is sometimes a constant stream of doctors and hospital appointments. When you combine this with two working parents (I juggle a challenging part time job), it can at times seem like an uphill struggle. 

 

At home the girls are a handful! They are strong characters and like to get their own way! They have no problem communicating with us and like to voice their opinions very loudly. They both have some mobility issues relating to their hypertonia. Lucy (with the heart condition) has more difficulty than Amelia and can not walk long distances. They also have some behavioural quirks; at one point we were struggling to keep on top of it. We had some help last year via the early stage autistic services and have benefitted hugely from some behavioural techniques specifically formed for autistic children. Since we implemented the technics they have really turned around and are much easier to manage. They are both very colourful characters, and make me smile every day. Whilst they would challenge most people’s patience (and at times sanity!) they are fantastic, wonderful and beautiful. They have a very good sense of humour and make me laugh (and cry!) all the time. It still makes me sad that they have a disability which is permanent and can not be ‘fixed’. But I am also very proud of them and marvel at how far they have come despite their multitude of challenges. They are very fond of their little brother Oliver who is now three years old. They are really starting to enjoy playing properly with one another which is wonderful to see. There is never a dull moment. Together they are quite a handful but we love them all to bits and wouldn’t have it any other way.