Out and proud. A blog for Rare Chromosome Disorder Awareness Week 2016.

This week it is Rare Chromosome Disorder Awareness Week. As with any annual event in Marigold’s life, it is time to reflect, to think about how far she has come and how much she has changed our lives.

This time two years ago I was in a pretty dark place. Marigold had suffered a life threatening apnea episode. We had spent a week in hospital being subjected to every test under the sun before we were told they had detected a unique genetic condition: 3q11 trisomy mosaicism. This meant that in some of her cells the genetic material from the long arm of her 3rd chromosome is duplicated. The condition was completely unique and had been difficult to detect: they had had to do several tests to work out what they were looking at. They couldn’t tell us any more. We were advised it might have little impact, or it might have a significant impact. We would just have to take each day as it came and look out for any red flags in terms of her health and development.

The year following Marigold’s diagnosis, I faced a massive internal struggle as to whether I should tell people about her genetic condition. She didn’t look noticeably “different” (although this is a very daft thing to say – every child is of course different). I didn’t really want anyone looking at her in a different way. I didn’t want her to be defined but it. And I certainly didn’t want anyone feeling “sorry” for us. For a long time I just hoped it was something we may never have to address and we could just carry on, at the risk of using inverted commas far too much in this paragraph, as “normal.”

This is a dilemma I see come up often on Unique, The Rare Chromosome Disorder support group that we are members of. Should one tell people about your child’s unique or rare genetic condition, especially if it might not be immediately obvious?

And of course, there is no right or wrong answer to this. It is a very personal choice and one which most parents make after they have gone through their own very personal journey.

Originally, we planned not to say anything to anyone about Marigold’s diagnosis apart from close friends and family for the reasons highlighted above. Fast forward two years and here I am blogging about it, my other half is running marathons for it and PRing himself all over the media, and last week my language skills were tested to the max in our holiday home in Normandy as I attempted to explain “unique genetic condition” and “advanced genetic testing” in respective languages to our French and German neighbours. Something we never covered off in either my French A Level or German degree funnily enough.

So what changed?

Well the world of rare chromosome disorders is as wide as a varied as you can imagine. On the one end of the scale, there are people who have gone their entire lives living with a rare chromosome disorder and have only been diagnosed later in life, often when they have come to have children themselves and the condition has presented in a more noticeable way. Some people probably go their whole lives without diagnosis. Some people are mildy through to severely affected with challenges around learning and physical ability – dyslexia, dyspraxia, ADHD, autism spectrum disorder, sensory processing disorders, hypotonia, hypermobility to name but a few – and can be greatly supported by therapies. Some children attend mainstream school, some go to specialist schools for a more supportive environment. For some, the impact of the missing or duplicated genetic material is much greater resulting in more significant physical and cognitive disabilities requiring more support. In some cases, a rare chromosome disorder may be life limiting. It is a huge and variable scale and I am only touching on it here. In the world of rare and unique chromosome disorders no condition is the same, and even if it is the same it might not present in the same way.

Marigold is currently mildly to moderately affected by her condition. She is hypotonic with weak muscle tone and delayed in some aspects of her development. She has physio, occupational therapy, speech and language therapy and may need additional support if she goes to mainstream school (which she may not – we still don’t know how she will progress.)

She is also exceptionally bright, loving and beautiful and enriches our lives more than we could ever have thought.

There have of course been challenges with Marigold and periods where I have felt overwhelmed by millions of appointments and the prospect of the future. But we are fiercely proud of our unique daughter and all she is achieving in the face of her various challenges. She is, if I may use this word, awesome. She gives us the energy and the inspiration to do things to raise the profile of rare and unique genetic conditions, to educate, to promote understanding, to change perceptions, to maybe provide support to others going through similar situations. This has been my journey over the past two years. And this is why I eventually chose to be out and proud about her uniqueness.

Last week, I took Marigold to a settling in session at a new nursery she will attend a couple of hours a week. She is very sociable and loves to be around other children, so I thought this would benefit her development. The nursery owner picked me up on a few things. Firstly, she told me I was not to talk in front of Marigold about what “she can’t do.” “She can understand you.” she said. A fair point. I spend my life talking to therapists in front of Marigold about her progress, it has become second nature to do so, but as her understanding increases it is absolutely true that she shouldn’t hear conversations about what “she can’t do.”

The nursery owner also suggested that when I meet other parents, that I don’t tell them about Marigold’s genetic condition, that I just say she is a bit delayed but she is getting there in her own time.

Her stance is one of inclusivity; that no child should be singled out for being different. That Marigold should just be treated as any other normal child with no reference to her challenges. I love this sentiment and I dearly want Marigold to be included of course, more than anything. But then I do want to raise awareness of unique genetic conditions, promote understanding and change perceptions.

She has made me think maybe there is a time in the not too distant future when I have to stop blogging about Marigold and being upfront about her unique genetic condition. When Marigold’s story and journey becomes hers to tell people about, if she wants to.

But I also want Marigold to grow up being proud of her uniqueness, honest about the challenges she has faced and proud of how she has overcome them.

Above all, I want her to grow up happy. This is all that matters.

So our journey continues. A very wise lady who is probably reading this once said to me “It may be a different journey, but it will still be an amazing one.” And she really couldn’t have been more right!

Rare Chromosome Disorder Awareness week is this week from 12th – 16th June. Very proud to be an active member of the Unique community who are doing so much to support those affected by rare chromosome disorders and without whom this would have been a much lonelier journey for us. http://www.rarechromo.org.

4 thoughts on “Out and proud. A blog for Rare Chromosome Disorder Awareness Week 2016.

  1. Just read your blog!!
    I’m a Unique mum as well, my son has a deletion on 4q and a duplication on 15q. He is 26, has complex delays, has an asd.
    BUT, he is Peter.
    He loves Disney, going swimming, art class and going on holiday.
    Oh, and an absolutely gorgeous laugh that comes from his big toe.
    I used to feel the need to explain why Peter is the way he is, but get beyond chromosomes and people’s eyes begin to glaze over.

    It’s not the journey I thought we’d be having when I was pregnant 27 years ago. But so far, even tho the journey has been hard at times, it’s Peter’s journey, so I’m not going to change it

    Like

  2. Amazingly honest and a very powerful account of how you have come to terms with Marigold’s disorder, but are still being challenged and finding your way as you go. Very inspiring Helen!
    Susan x

    Like

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