Sunday, October 31, 2010

partial Trisomy 4p21q

I often find myself struggling to explain Wesley's exact diagnosis, instead just stating that he has a rare chromosomal abnormality. I have found that if I use the exact medical terminology, I often get a blank stare and glazed over look in response.  But due to recent questions I have received, I thought I would take the time to explain his diagnosis in greater detail.  So, for those of you interested in the science behind the diagnosis, here it goes:

Whereas most people have 46 chromosomes, Wesley has 47. His karyotype (a picture of systematically arranged chromosomes) shows that he has an extra 21st chromosome. Usually triplication of the 21st chromosome would indicate that a person has Down syndrome, but this is not the case for Wesley.

Chromosomes are composed of 2 arms - a short arm (labeled "p") and a long arm (labeled "q"). In Wesley's extra 21st chromosome, the short arm is actually a piece of the 4th chromosome, NOT the 21st. As a result, instead of having Down syndrome, Wesley has the diagnosis of partial Trisomy 4p21q. This means that he has a partial trisomy of the 4th chromosome (4p) and a partial trisomy of the 21st chromosome (21q).

Because Wesley's chromosomal makeup is different from Trisomy 21, he does not have many of the visible attributes often associated with people with Down syndrome.  On the other hand, the fact that he has an extra piece of the 21st chromosome means that there are some similarities. Just like many children with Down syndrome, Wesley has hypotonia (low tone), particularly in his tongue and jaw. Because of that, he has many difficulties with with feeding and speech. His hypotonia also affects his walking and the strength of his ankles.

Since Wesley's chromosomal abnormality is so rare, doctors cannot give us any information as to what Wesley's long term capabilities may be. Our best guess is that they will be similar to that of a person diagnosed with Down syndrome.  But, as Psalm 139 says, the Lord knows what Wesley's future holds, and he has sovereignly and lovingly ordained all of Wesley's days.  We trust that the Lord has a wonderful plan for Wesley's life, and we look forward to seeing all that the Lord has in store for him.

1 comment:

Rochelle said...

Thanks for stopping by and leaving the info about the Sure Steps for us.
Your boys are adorable!!! We look forward to watching them grow.