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Thursday, 21 September 2017

Our story so far... #EctodermalDysplasia #JeansForGenes

Tomorrow it's Jeans for Genes Day and, around the same time each year, I reflect upon the impact a tiny faulty gene continues to have on our family's day-to-day lives. For those of you who don't know, I have a condition called Ectodermal Dysplasia (ED) as does my son, Theo. I have previously shared a little about the condition and my concern's for Theo's future here: Along Came Poppy: Word of the Week: Kindness 

I'd like to emphasise from the outset that I consider our family to be extremely lucky not to be more severely affected by Ectodermal Dysplasia. However, having reviewed last year's post, I now realise that in just over twelve months a lot has happened regarding Theo's condition and treatment. I hope that by sharing our personal experiences, we will raise awareness of ED and may even help other families looking for answers.


July 2016

Theo’s diagnosis has been confirmed through genetic testing. Although there was never really any doubt he had E.D. From birth he had constant issues with reflux and failed to gain weight. His teeth were late coming through and then, shortly before his first birthday, four little teeth appeared. I was absolutely delighted that he was finally getting some teeth but, at the same time, I was devastated by their pointy appearance.

Now at age 2, he has 5 little teeth and there is the possibility he won't get anymore. He has trouble chewing food, digestive issues and eczema. But, more importantly, he is a confident and extremely energetic little boy, who loves playing with other children. My fear is that when more children (and adults) start to make these comments, all that confidence and energy will be knocked out of him. I know it is my job to make him as resilient as possible but, at this stage, I’m not really sure where to start!


Update: September 2017

I'm delighted to confirm that a year on Theo remains a bundle of energy! He attends preschool and is a confident, chatty little three year old, who still adores playing with others. 

In relation to his health, he is under the care of a paediatrician. He still has digestive issues and is on a dairy, soya and banana free diet. He is due to see a dietitian next week. He continues to be troubled by eczema and has a dust mite allergy, which aggravates it. He currently has impaired hearing due to glue ear in both ears, which is having a slight impact upon the clarity of his speech. His hearing will be retested in due course and, in the meantime, I am looking into speech therapy. Over the summer he started to get nosebleeds, which now seem to have resolved. Theo's temperature, for the most part seems unaffected (even during the summer months), however when he is poorly it is very difficult to keep it under control.

The real developments this year involve Theo's dental treatment. He now has 7 teeth with an 8th on the way - hooray! He has had several appointments at the dental hospital and, on each occasion, he has been an absolute star! We have approached each trip as an adventure. He takes little toys; books about going to the dentist; and his tooth brush. In between trips to the dental hospital, he has routine check ups at the dentist and so is very accustomed to the dentist chair, which, by the way, also makes a great plane runway! So far he has had strip crowns* applied to two of his bottom teeth and a third tooth has been reshaped to avoid him puncturing his lip. He has not required any anaesthetic. We will know exactly how many more teeth he can expect to get when x-rays are carried out after he turns 4. Keep your fingers crossed for a few more!

Since my original post we have had zero, yes ZERO negative comments from others, which gives me so much hope for the future, as one of my main concerns was the potential for bullying. As for Theo, he is taking it all in his stride. Here he is giving "thumbs up" in the dentist's chair...


Thank you for taking the time to read our story so far. 
For more information on Ectodermal Dysplasia visit the Ectodermal Dysplasia Society website 
and to find out more about Jeans for Genes Day or to make a donation click here.

Kate and Theo xx


*Paediatric strip crowns are not like adult crowns. They are formed using a tiny plastic mould filled with a composite material. The mould is then placed over the existing tooth to improve the appearance.

4 comments:

  1. A lovely post about your lovely boy! Nic x

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    1. Thank you Nic. He really is a super star! xx

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  2. Aw bless him. He sounds and looks a very happy boy and I believe you are doing a great job of instilling resilience. He sounds a though he takes I all in his stride. Thank you for raising awareness. It's a condition I hadn't heard of x

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  3. I hadn't heard about this condition either, but I'm glad it hasn't stopped him from being a happy and fun-loving little boy.

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