I have never explained very well on the blog Cade's diagnosis. I always just say he has a chromosome 6p deletion and people just nod their heads and pretend to know what I'm talking about and I'm OK with that because it's confusing. This may be boring for you if you have ever had a genetics class but I'm going to attempt to explain Cade to those of you that remain confused.
There are 46 chromosomes that make up the DNA of a human and they are divided into 23 pairs. The pairs come from inheriting one from your mom and one from your dad. There are many things that can go wrong with replication as your cells divide as you are being made. There can be deletions, duplications, inversions, translocations and the list goes on and on. In Downs Syndrome there is a duplication, or trisomy, of the 21st chromosome. In Cade's case, when his little cells were dividing, a little piece was left out, or deleted, off his 6th chromosome. Because Shane and I have no evidence of this deletion, it was just a freak occurrence, or de novo, we are no more likely than the average person to have a child like this again. Below is a karotype of the normal human male. I have checked the 6th chromosome.
As you can see based on size, the higher the number, the less genes it represents. It's unfortunate for Cade that the 6th chromosome is so large and it represents about 6% of total DNA. That means it controls many things that affect the body. Each piece of the chromosome can be broken down and we can know what parts of the body it controls down to the tiniest detail. Each chromosome has 2 arms, known as P and Q. P arm is the short arm. It was detected on Cade's karotype to be missing a small but important piece on the P arm. All this means to us is that we have a little boy that you can think of as a book. You can think of each chromosome as a chapter of the book. Cade is missing some pages from the 6th chapter. You get the general idea of the story, but some parts don't make sense.
This deletion has affected Cade's development, mentally and physically, his muscle tone, the basic formation of his mouth, teeth, and chin, his heart, and possibly his vision and hearing. There are so few documented cases of this and there are so many variations it is impossible to compare. Today Cade's new geneticist took another blood test on Cade to determine his "break point" and the exact areas that are missing. In the meantime, we will continue to do what we are doing, get all the help he needs, and love on him everyday!
5 comments:
Our little guy has a 6p25.1 deletion. We have been told that there is no other worldwide...I pray that you get this comment and will contact me!!
Hello! Your family is adorable! You did a great job explaining the deletion. I've never even attempted... just letting people kinda assume they understand. You've inspired me to make an attempt. My daughter Kinsley has a deletion of 6q16.1q22.2.
I wanted to invite you to join our "chromosome 6" group on Facebook. Vicki is part of the group as is a couple other "p" families. Also, there is a Chromosome 6 Deletion Syndrome group on Yahoo where about 80 of us share medical info and support one another on this often rocky, unpredictable road.
I haven't been good at updating Kinsley's blog lately... she was hospitalized with H1N1 and then my husband and I came down with it. Now with her being sick again there is little time to update. Anyway this is her blog: http://kinsleygrace.blogspot.com/
I am so happy to hear from ya'll! It is so nice to know we are not the only ones with these struggles. Vicki I'm not sure how to get in touch with you so I am hoping you see this post so you can let me know.
And Blessed Momma- I am so sorry to hear about Kinsley's illness, I pray she gets well soon. She is a doll as well as her sister. I read her entire blog and was amazed how similar her first year has been to Cade's. It was a very tough start with several surgeries and hospitalizations but I am happy to report he has been so much healthier and stronger in recent years. I loved hearing from ya'll and hope to stay in touch. We are praying for your little ones- Don't you just love them?
very good explanation of Cade Anna! I had read about this chromosome 6 when your Dad told me aobut it. I love they way you compare it to a book. Cade is a very special and loved little boy!
christa
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