My diagnostic journey
I was diagnosed with mosaic trisomy X when I was 41 y old. After reading about a woman my age with this diagnosis, I wanted to know if I had the same. I, a biomedical information specialist with a MSc in human movement sciences, had never heard about it. My family practitioner had never heard about it but gave me the referral. The clinical geneticist, with decades of experience, was really surprized when the test results came back. Mosaic with 47,XXX (Trisomy X) 46,XX (usual female) and 45,X (Turner syndrome). This explained many of the hurdles I had been facing. It was good to know the cause was in fact quite benign, with good perspectives for the future.
Our Facebook group
Soon after my diagnosis I became involved with the Dutch Support Group for trisomy X. And I became a member and in 2022 also a moderator of a Facebook group: Triple X Syndrome/ Trisomy X | Facebook
In our Facebook group, we have a group rule: ‘No empty promises allowed’. You are welcome to share your own feelings and experiences. Nobody can predict somebody elses future. Therefore statements like ‘she will be perfect’ or ‘She will be fine’ are not allowed. Some members have difficulties with this rule because they see these statements as just being supportive. That is the reason I made this blog.
Why do we have this group rule?
We are a very diverse group. People from different cultures and backgrounds, views on life and experiences. We have people here who are 14 weeks pregnant and received NIPT results. Parents and caregivers to children of all ages. And adults with the diagnosis, their ages ranging from 16 to over 70. Some of us, some of the children, have no symptoms at all. Some have issues that require some extra attention. A small minority needs a considerable amount of care because they have speech and language problems, physical problems like hypermobility or gastrointestinal dysfunction, to mention a few.
Some of us have disabilities
I have mobility/coordination issues equal to dyspraxia/ DCD and a complicated diet, auditory processing disorder and have had mental health issues in the past. Also slowly progressing hearing loss due to my mosaic 45,X. All together my self care takes quite some time. My income is from social security for those who are no longer able to work. I identify as having disabilities. And I am also a volunteer and a mother and so much more.
Does a child need to be perfect to be accepted and loved?
The focus on being perfect can hurt. With my disabilities and me just being a human, I feel far from perfect. The imperfections hurt now and then and they are also an invitation for growth and development. This morning, I enjoyed an exchange with Elliot, founder of Chromodiversity Foundation. He told me about Mr Rogers, who is often cited “you’re enough, just as you are”. Never heard about Mr Rogers before, but these words sound like music to me.
Not perfect, good enough, beauty of diversity
We also talked about kintsugi, the Japanese art of making visible repairs. It is related to the concept of wabi-sabi. I love crafting: knitting, crochet, sewing bags and clothes. Often, there are imperfections in them. Or it turns out different than intended. I do not correct all of the mistakes. I enjoy the results just being imperfect and good enough. Or the beauty of accidentally inventing something new. That is what I also encourage people in our group to do: accept differences and imperfections. Enjoy the child you are a parent of, the person you are. And please, mind the group rules and bear with your moderator.
