It was a Friday evening around 6:30 and I’ll never forget the phone ringing and the look on my wife’s face when she answered it. It was our neurologist and he should not have been calling us for any reason. He had received her genetic tests and they turned up a serious abnormality. She has what is called XQ28 duplication syndrome. This is a rare genetic disorder for children and even more rare for girls. We’ve been told she’s 1 of around 15 known girls who have the disorder. It’s more common in boys and they have it very severe with 100% of them having mental and phyisical disorders. The known girls is a range of issues but all still have mental and physical problems. What everyone seems to experience is low muscle tone, respiratory problems, eating issues, and an overall developmental delay. All of these we have experienced in abundance and will continue too.
One of the genes that is active in XQ28 chromosome is the MECP2 gene. This is the more popular name to call her disorder. In fact, when you google MECP2 syndrome, you get all kinds of information and almost 99% of it is about boys because it’s so rare in girls. The list for boys is very disheartening but I’ll put it below.
Characteristics of MECP2 duplication in affected boys:
*Hypotonia (low muscle tone)
*As a result of hypotonia, motor development including sitting, crawling, and walking is severely delayed or impaired
*Mental retardation (in 100%)
*Recurrent respiratory infections (in 75%)
*Epilepsy (in 50%)
*Constipation and/or reflux
*Limited or absent speech
*Progressive spasticity (usually noticed in the legs more than the arms)
*Stereotyped movements of hands
*Developmental regression occurs in some boys
We read all of this the night of the phone call and both of us just broke down. Why God? Why? My wife ate nothing but healthy food during her pregnancy, she walked 3 to 4 miles almost everyday, and in fact, the night her labor started she had just walked 4 miles in 90 degree weather! The birth was easy, she barely needed an epidural and pushed 3 times and Reese was out. We had a miscarriage over a year earlier and had planned on waiting a while longer to try again. God had other plans but this was the big plan? He gives us the most precious gift of all that we prayed over so many times and it’s a child with this?
Mental retardation? Possible Epilepsy? Another article we read said only 50% of boys live past the age of 25! Another study of 4 girls that have it had one dying before the age of 3! This is our future? A child who will never drive a car, fall in love, go to college, and maybe never even run into our arms and tell us she loves us. For months leading up to her birth I joked about buying guns to keep boys away from her, now she’ll never have a man to love her as a wife? I will never walk her down the isle and give her away, I’ll never take her shopping for her college dorm or to buy a prom dress. At no point in my life did I ever consider this as a possibility for my child. This was other people’s problems and I always smiled and said a silent prayer when I saw children with these issues. Now these issues are our life. Where do we go from here?