Ellie

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Ellie

Located: Ireland

Symptoms: Difficulty expressing herself, Hyperphagia, Moderate learning difficulties, Overgrowth, Teeth malformation

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Ellie Delaney is a beautiful young girl that shines a light wherever she goes! She has a very unique personality that will carry her through the challenges life has presented her with. Ellie is very funny and chatty and really sociable…she just loves meeting other people and chatting. She has a special connection with young babies, older people, and animals. She has six hens, a dog, a few cattle, and a cat at present!

Ellie’s entry into the world was dramatic just like our Ellie! I had to have emergency surgery after her birth due to blood clotting and was quite unwell for a few months after Ellie was born. Ellie’s birth weight was 9 lbs. She was a very easy baby and there was nothing remarkable until she had a seizure at 2.5 years. She was rushed to hospital and treated for meningitis but was eventually diagnosed with febrile convulsion. As a mother I felt her seizure was more than a febrile convulsion.

From that day on we noticed different symptoms. Ellie was 2.5 years and still not walking…she never crawled…. but this did not alert me too much as her older brother and sister were very late crawling and walking.

I brought her to a consultation when I was worried about milestones and they ran genetic tests at my request but said everything was fine! What I didn’t realise at the time was they did very basic genetic testing, as in how many chromosomes she had, and as she has the correct number the test result was fine.

In the meantime, I trained as a nutritionist, which fortunately gave me a lot of medical knowledge and helped me to continue our quest for answers.

When Ellie started school her teacher noticed quite soon that Ellie was going to struggle academically. At this stage I knew Ellie had challenges and I wanted answers as to why. I brought her to doctors who ran tests but Ellie’s blood work, etc. always came back ok. I also did private testing with German labs such as stool, urine, and blood, but nothing remarkable showed up.

It was an isolating and frustrating journey trying to find answers. I know a lot of parents never get answers but I felt if we knew what was different about Ellie’s body chemistry we could support it as best we could. On our journey of discovery we tried gluten-free dietary plans for about five years. This really helped Ellie but I felt she was gaining an unhealthy obsession with food and I ceased the diet in case that was causing the obsession. I now know that the obsession is part of her syndrome!

I found a lovely paediatrician and I begged him to run genetic tests again as I really felt Ellie had been born with something that there must be an answer to. At this stage Ellie was nearly eight. She was in mainstream school but really struggling and was developing an insatiable appetite. She had balance issues and found running and walking fast a challenge.

The main purpose of the test was to check for Prader-Willi syndrome. Months later, that test came back negative for Prader-Willi but they did find she was missing some information from chromosome 2. I remember at the time feeling relief that now I could start a journey to supporting Ellie as best we could. This was after years of bringing Ellie to lots of different practitioners, doing numerous tests, etc. At last, at last, some form of an answer!

I say some form of an answer, as no one seemed to know what missing the genes Ellie was missing meant or if it has any medical significance! Our best bet was to meet a geneticist, which had a 2.5-year waiting list in Ireland!

In complete desperation I went on my laptop one night to see if there was anything I could find to help Ellie. I felt we had answers but no one could help us. I will always remember this night when I found the TRBS Community. The only knowledge I had was the names of the genes Ellie was missing on chromosome 2. This led me to finding people with the same missing gene and the moment I saw the picture of the other children I knew! I immediately knew Ellie had this syndrome!

Ellie was eight, in mainstream school, and really struggling. I felt finding this community and realising that Ellie had this syndrome helped me and my husband realise that Ellie needed something different than mainstream school. Without an official diagnosis we made the decision to move her to a special needs school. We also lobbied for more supports for Ellie for occupational therapy and physiotherapy.

In October 2018, we went to the Child Growth Foundation in the UK to meet other families with TBRS. Again, we did not have a diagnosis but I wanted to meet Dr. Kate Tatton-Brown to ask her if she thought my child has this syndrome. It was wonderful for Ellie to meet other children with the same challenges. It was a year after this that we eventually got to see the geneticist and received the diagnosis. In the meantime, I had made private appointments to see a neurologist, endocrinologist, and a cardiologist as I picked up all the information from the TBRS Community as to issues our children can have. By the time we met the geneticist we had all the work done medically ourselves! He just confirmed what we had known for two years. Ellie has only officially received her diagnosis in December 2019 but we were members of the TBRS Community since April 2018!

I guess my advice is, sometimes you have to go on your own journey of discovery and having the TBRS Community of people enabled me to do that. And you need that community because having a rare disease can be a very lonely and frustrating journey as knowledge is not there…we always know so much more about the syndrome and the pathways in the body it affects than our consultations do! As I said at the start, Ellie is a beautiful, funny, young girl. She dreams of one day being able to read and write like her siblings. She dreams of having a little house filled with loads of food, lots of children, and animals! Our dream is that her dreams could in some way be realised. Her pleasures are simple and she is generally happy. She likes routine and found COVID-19 times difficult in the beginning due to loss of routine and meeting people. She suffers frustration at her inabilities at times and finds it hard to express same. Her biggest stressor is food and security…if she goes to bed she likes to know we are all going to bed at same time. Ellie finds it hard to not think about food all day.

She has a really caring nature and loves to take care of people. She has a heightened memory and could probably recall what I wore this day last year!

Ellie is wonderful but it can be painful as a parent thinking of lost opportunities and experiences that other children and adults experience naturally. This is where we need the support of the TBRS Community to help us through the tough days. As I always say, you can’t really know what it is like to be a parent of special needs child unless you live through it, and together we live though it and celebrate our little wins and mourn our losses that only we together can understand!

 Written by her mum Sinead.