Today is the 4th #undiagnosedchildrensday. Often the word SWAN (Syndromes Without A Name) is used - it is essentially an umbrella term for a child or young adult who is believed to have a genetic condition or rather an undiagnosed genetic condition. This can impact on a child and their family in enormous ways. There is no designated medical path to follow - no exact treatment plan. Sometimes it can involve guess work and fighting fires, instead of a preemptive strategy.
For anyone who has read a few of my posts, you will know by now that diagnosis came relatively quickly for my daughter. She had a very precise symptom, which lead her consultant to carry out a FISH test (I’ve attached a link as I wouldn't dare to attempt to give an exact translation of this!). They were able to administer this test to look at a specific chromosome - number 7. Within 8 weeks we had a diagnosis and a plan. I have frequently said that it is easy to become blasé about having a label, a name for why your child is developing in a particular manner. As time has passed I have started to fully appreciate what it means to ‘know’, to be able to map out and consider the future. To know the organs of the body that need to be monitored or observed. The methods that might unlock or support your child to achieve.
When my lovely girl was diagnosed we had genetic counselling (one of the most fascinating meetings of my life). This incredible man enlightened us on what we had in store, what we would need to be aware of but more than that he offered us hope and support for the journey we were beginning. At the end of this session he handed me a booklet, which contained around 50 pages. This outlined every stage of my daughter’s life and what medical checks would need to be done. I can remember casually putting this in my bag and walking out. I had no real appreciation at that point how valuable & fortunate we were to be carrying this paperwork. I feel completely ashamed writing that today but I do it to make people realise how grateful they should feel to have a diagnosis, even when it hurts to your core.
I know a number of children & young adults who have yet to find a diagnosis. I have witnessed first hand the struggles, worries and apprehension this can cause. The not knowing must be deeply painful but yet they continue to put one foot in front of the other - determined to give their all to their child. Studies like the 100,000 Genomes Project are working towards finding diagnosis and treatments plans for those who need them. I have met one of the Drs involved in this and he is simply the most dynamic man I have ever met - he is passionate about discovery and changing the lives of families. The support he offered my family post diagnosis will never be forgotten.
So, this is my plea to you. Please support #undiagnosedchildrensday - retweet, Facebook, tell your loved ones, tell everyone about the importance of it. For the friends I know who live this every day, life without diagnosis is complicated and unforgiving at times, but their child is just as loved, valued and significant as your own.
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You can make a difference - if you would like to support SWAN then please find the details below: