Biology 101

Numerous people have been asking how Josephine is doing, or if she has been improving. I tend to bite my tongue when answering, but can honestly reply that she is doing well. No more blue spells recently, she's eating more and gaining weight, and she's really starting to let us know her personality. Now, the reason I hesitate to answer this question is that for some people, as I'm relaying all this great news, have expressed hope that Josephine will recover from this. Unfortunately, the answer to that is no. I realized that many of you who are reading this blog don't have the background in Biology that I do, so I thought I'd take time for a little tutorial. You can access this info here.

Trisomies develop while the egg/sperm is developing. It occurs either during the first stage of meiosis, called meiosis I, or during the second stage of meiosis, called meiosis II. What happens is that as the chromosomes are pulling apart, instead of one chromosome going to one egg/sperm and the other going to the other egg/sperm, both chromosomes get pulled into one egg/sperm. This results in one egg/sperm with double the information and another egg/sperm lacking some of the information. This is called nondisjunction, and this is what 95% of Trisomy 18 cases are. When the egg/sperm with the extra chromosome is fertilized, this results in three chromosomes. In Trisomy 18, it is three of the 18th chromosome. In Trisomy 21, or Down's Syndrome, it is three of the 21st chromosome. Hopefully, the picture below and the link above will help to understand how this occurs.

Nondisjunction during Meiosis II

The important thing to know is that this is a genetic disorder, not a disease. A disease is something that you can treat and usually cure. A genetic disorder causes symptoms and characteristics that never go away. You can treat these symptoms and characteristics to make life more comfortable, but they will never be cured. A perfect example of this is Josephine's heart. We are treating her heart defect with Lasix and Digoxin. Both of these help her heart to work more efficiently, but will not "cure" the three holes in her heart.

I hope this has helped some you understand her condition just a little bit more. Unfortunately, this is not like cancer. Josephine will not "beat" this. She will always have this condition and one day, it will take her life. What we do know is that she is a remarkably strong little girl and has already survived longer than she was expected to. Each day with her is a blessing, and we are thrilled with her progress and improvements. She has been an inspiration to us, as you have read, and we marvel at her strength. She is precious beyond words and we are grateful that she is ours.