Chromosome 5q14.3 deletion - the nameless diagnosis
April is almost here and it marks the beginning of Autism awareness month and lighting up blue to spread autism acceptance and awareness on April, 2. But this post is not just about autism, but also about what got me thinking in light of upcoming autism awareness day and a recent post in one of my Facebook groups.
Tuhina has a dual diagnosis of a rare gene deletion - Chromosome 5q14.3 deletion and autism. Actually, her primary diagnosis is Chromosome 5q14.3 deletion and autism is a result of it. So while she has the autism symptoms, she has more physical challenges than in general kids with autism have. But it has always been very difficult to explain to people what her diagnosis is and I usually end up saying that she has a rare genetic condition and autism. Her condition does not have a name. It is just a scientific term which most people don't understand.
And when a fellow mom in our Facebook group posted about having a day for us, it got me thinking; how good would it be to have a name and possibly a day for this diagnosis. So it would be easy to tell the people that kids with Chromosome 5q14.3 deletion are out there, and they are as wonderful as any other kid. Imagine how many people would understand the condition 'extra chromosome 21'. But people know down's syndrome and it helps bring in awareness.
Chromosome 5q14.3 deletion is as much a part of our lives as autism is. I am not sure that having a name or a date would help in the research in any way, but why not have a name for it when it is here, and it is here to stay.
We do have a rare disease day on Feb 28th, but as one on the mom's suggested, it would be great to have a May 14th and a name for us, so one day when we tell someone about the name of our kids diagnosis, they could atleast google it and know what it means. :)
Tuhina has a dual diagnosis of a rare gene deletion - Chromosome 5q14.3 deletion and autism. Actually, her primary diagnosis is Chromosome 5q14.3 deletion and autism is a result of it. So while she has the autism symptoms, she has more physical challenges than in general kids with autism have. But it has always been very difficult to explain to people what her diagnosis is and I usually end up saying that she has a rare genetic condition and autism. Her condition does not have a name. It is just a scientific term which most people don't understand.
And when a fellow mom in our Facebook group posted about having a day for us, it got me thinking; how good would it be to have a name and possibly a day for this diagnosis. So it would be easy to tell the people that kids with Chromosome 5q14.3 deletion are out there, and they are as wonderful as any other kid. Imagine how many people would understand the condition 'extra chromosome 21'. But people know down's syndrome and it helps bring in awareness.
Chromosome 5q14.3 deletion is as much a part of our lives as autism is. I am not sure that having a name or a date would help in the research in any way, but why not have a name for it when it is here, and it is here to stay.
We do have a rare disease day on Feb 28th, but as one on the mom's suggested, it would be great to have a May 14th and a name for us, so one day when we tell someone about the name of our kids diagnosis, they could atleast google it and know what it means. :)
We need to know why this chromosome becomes deleted. Or not formed
ReplyDeleteit was a point mutation, in case of tuhina. Not much results seen with the research right now.
Delete