On a Journey

It’s always hard to know how much to share about our sweet George, because, being nonverbal, he can not tell me whether it is ok or not. We kept thinking that, should George grow up to be a typical child or grown-up, he would be sad or embarrassed to have his not so typical childhood shared.


This has changed now.
A little while ago we came across a rare genetic disorder with symptoms which describe our little Boo perfectly.

It was emotional, humbling and a bit scary to see that all the things that we thought make George so unique are all symptoms, that there are other children just like George, parents just like us.


Today we went to see a wonderful doctor to talk about our journey towards a diagnosis.
The next step is the (long) wait for an appointment with the paediatrician, and hopefully a referral to genetic testing after that.
We decided to from now on share our journey, more about George and the challenges (and joys!) we face, and the amazing people we have met. We decided to do this to raise awareness, to connect with other parents going through a similar situation, and to remember this part of our life.


Since finding about about the syndrome, the name of which we are not ready to share until we know for sure, all our plans have been changed, but our goal remains the same, – we will give our little ones the most amazing, fun and happy childhood we possibly can, whether that childhood lasts ten years or sixty years.
Thank you for sharing this journey with us.

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4 Responses to On a Journey

  1. Eva says:

    He is so lucky to have you as his wonderful family!

  2. lisa says:

    I am also the parent of a child with a rare syndrome. She has cardiofaciocutaneous syndrome, or CFC. I found getting a diagnosis was actually a good thing. She is 23 now and only diagnosed 2 yrs ago. The syndrome is so rare there are only about 300 people in the world with it. I hope your experience is similar to mine. I find knowledge to be power, and having a diagnosis, although it means losing the hope of “normal”, brings with it knowledge and a different kind of hope. Just a thought…if you share the name of the diagnosis, other readers might point you in helpful directions and make your journey a bit easier. We went through several tentative diagnoses before this last one, so there is the possibility you might have a few rough patches of having to change direction midstream. Thank you for sharing your story.

  3. Sian says:

    And what an amazing childhood it is, and shall be x

  4. Imogen says:

    I love the way you have worded this, your vision for your family. Sending you thoughts for your journey to a diagnosis.

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