This girl...with her new smile and even newer haircut. She just beams. Always has had that zest for life. That zest making for some parenting challenges but so thankful for it as it seems she'll need to harness her inner warrior more now than ever.
We recently found out she has Turner's Syndrome. In short, she's missing her 2nd X chromosome. This causes short stature, difficulty reaching puberty without hormonal assistance and infertility. Scarier still, heart defects, kidney abnormalities, learning disabilities.....the list goes on.
We initially went to our pediatrician to have her headaches addressed. They were becoming more frequent and bothersome. The doctor recommended an MRI which showed a nearly non existent pituitary gland. After more vials of blood than I've ever seen being taken, the diagnosis was made.
We were a bit shocked.....we expected a growth hormone deficiency at worst and had no idea chromosomal tests were even being done.
Nothing is more difficult than knowing your child will likely face some heartbreak. She speaks often about being a mother. ....what if that is never possible for her? Although there are amazing alternatives, not having the ability to carry your own child can be devastating. For now, she only knows she'll begin shots for her growth. That enough is difficult for her...daily shots...for possibly the next decade of her life. I don't believe she can fully comprehend the rest. ....we hardly can. Right now, our concern is making sure we educate ourselves and stay vigilant about the many consultations she'll face....cardiologist, nephrologist, ENT.....
My prayer is that her issues are minimal although the big things, like fertility and puberty seem to be problems for even the better case scenarios. I worry about the woman that she'll eventually become facing these things. While I know things could be so much worse, I hate for her to experience any sort of heartache.
She's a tough kid though, this one....I have no doubt God gave her that spunk to be able to face this and any adversity that comes along. She's gonna be juuuust fine......
From The Mayo Clinic:
We initially went to our pediatrician to have her headaches addressed. They were becoming more frequent and bothersome. The doctor recommended an MRI which showed a nearly non existent pituitary gland. After more vials of blood than I've ever seen being taken, the diagnosis was made.
We were a bit shocked.....we expected a growth hormone deficiency at worst and had no idea chromosomal tests were even being done.
Nothing is more difficult than knowing your child will likely face some heartbreak. She speaks often about being a mother. ....what if that is never possible for her? Although there are amazing alternatives, not having the ability to carry your own child can be devastating. For now, she only knows she'll begin shots for her growth. That enough is difficult for her...daily shots...for possibly the next decade of her life. I don't believe she can fully comprehend the rest. ....we hardly can. Right now, our concern is making sure we educate ourselves and stay vigilant about the many consultations she'll face....cardiologist, nephrologist, ENT.....
My prayer is that her issues are minimal although the big things, like fertility and puberty seem to be problems for even the better case scenarios. I worry about the woman that she'll eventually become facing these things. While I know things could be so much worse, I hate for her to experience any sort of heartache.
She's a tough kid though, this one....I have no doubt God gave her that spunk to be able to face this and any adversity that comes along. She's gonna be juuuust fine......
From The Mayo Clinic:
Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.
Turner syndrome may be diagnosed before birth (prenatal), during infancy or in early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have mild signs and symptoms of Turner syndrome.
Nearly all girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead relatively healthy, independent lives.
