In 2003, when the paediatrician broke the news to the expecting parents that their future child had been diagnosed ‘in utero’ with a condition called ‘Klinefelter Syndrome’ or “XXY’ – and gave them the option to terminate the pregnancy – they were stunned.
Why had they never heard of it? How bad was it? Was this one of those rare, frightening ‘one in a million’ genetic disorders?
Not at all. About one in five hundred boys and one in one thousand girls are born with an extra 47th X chromosome. In fact, he explained it is the most common chromosome difference in boys, more so than Down syndrome (Trisomy 21). He advised the parents to think about it, be sceptical about what they would read online, and then referred them to a genetics expert.
The genetics expert explained it is an “invisible, non-hereditary wide spectrum” syndrome, probably milder than research done in prisons and hospitals suggested, but… it was impossible to say what the outcome would be. The baby might end up severely handicapped. On the other hand, 3 out of 4 people were never diagnosed, and maybe most cases were very mild. Nobody really knew. He mentioned a famous successful surgeon had it but kept it secret as it could destroy his reputation… The parents left even more confused.
In the end, they decided to keep the baby. 5 months later a boy was born, and they called him Merlin. They had no clue how things would turn out.
“Me, Myself and XXY: Growing Up With Klinefelter” is the eye-opening story of Merlin. Designed for teens, parents, educators and health professionals, it tells of the challenges, frustrations and myths around Klinefelter in the form of a children’s storybook. It shows how schools had never heard of the syndrome and provided the wrong kind of support, how health professionals missed the biggest issues he and his family faced, and how close he came to being unnecessarily instituionalised.
It shares key takeaways such as the life-changing positive effect of early diagnosis and intervention, new learning strategies to help unlock natural abilities and strengths and go-to resources for parents, educators and healthcare professionals.
It is also a funny, moving real-life story, packed with anecdotes and insights that bring to life what growing up with little-understood differences can be like. The book is set to be ready for release in 2022.
The problem is, surprisingly little has changed since 2004. While research has progressed, and social media now allows us to form vibrant communities and speak up, in other ways, we seem stuck in the past:
- 3 out of 4 people are still not diagnosed, meaning millions of people have no access to early intervention
- Myths and misconceptions abound, leading to stigma & stereotypes
- Parents are unware and unprepared for the diagnostic when it comes
- Schools and teachers haven’t heard of it and don’t have learning guidelines
- A recent analysis of 22 research papers over the past 20 years shows that healthcare remains deficient and uncoordinated between specialities
However, we have learned one important thing: nothing matters more in making a positive lifelong difference than early diagnosis and intervention.
Make Change Happen Now
“Me, Myself and XXY: Growing Up With Klinefelter” is the kind of life-changing book that could have made life a lot easier and better for Merlin’s parents & siblings, helped Merlin’s teachers know what to do, and given healthcare professionals a better sense of what to look out for – had it existed. Now you can make it happen.
The only reason we’re able to take action is thanks to our amazing donors. We believe it is urgent to get Merlin’s story published and into the hands of the widest possible audience, and that’s where everyone can make an immediate impact.
By giving $25 or more, not only can you make a difference with teens and families to reassure and give them an idea of what to expect. You will bring the story into the offices of primary physicians, therapists. endocrinologists, psychiatrists, clinics, hospitals as well as the libraries of elementary and middle schools, high schools and universities.
Limited Collector’s Edition Reserved for Early Donors
In addition to allowing copies of “Me, Myself and XXY: Growing Up with Klinefelter” to be distributed where it matters, all donors who contribute at least $25 before the end of the year will be personally thanked by the President of our Foundation, and those who give over $100 by Dec 31st will receive their own limited collector’s edition of “Me Myself & XXY” upon its publication in 2022.