Here's what mom has to say:
Hi Guys! My name is Penny and I am writing this blog from a mums point of view with a Turner Syndrome daughter. Mackenzie is a very lively 2 year old. She was diagnosed with Turner Syndrome at 5 months old after constant trips to the doctors and hospital with worries about her (When she was born she had really puffy hands and feet and they told me it was due to her drip). When we went to the hospital for results they took us into a room on our own and I knew straightaway there was a problem. The doctor sat us down and started explaing to us about syndromes, and then told us Mackenzie had Turner Syndrome. I asked what this would mean? And she told me that Mackenzie had a full x chromosome missing (girls have 2). She told me that Mackenzie could develop a few problems later on in life, take it day by day. She said the feet was a sign, high arch pallette (Mackenzie wasn’t feeding). Doesn’t sleep either. Then came the biggest shock of all: INFERTILITY. I just burst into tears. I was shaking and so shocked! I thought how the heck has this happened? I asked the doctor and they said the chromosome had just got lost at conception. I asked the doctor what would happen now and she said we would need to see a specialist in Turner Syndrome. As I was leaving the hospital she advised me not to look it up in the internet.
I went home and I did look it up on google straightaway. I needed to know what this was. I saw on google they had a lot of very bad cases of it which did scare me a bit . I saw a lot of the characteristics also fitted in with Mackenzie too. I then saw that the only chance they could get pregnant was through egg donotion (IVF.) At this point, I then decided the desicion was made for me to hopefully be given the chance to donate eggs for Mackenzie should she wish to use them in the future? She doesn’t have to. I just want to give her that option. I am waiting on an appointment with the IVF doctors to hopefully set the wheels in motion. I know some people don’t agree with what I am doing but I would just like to ask if you were given this scenario would you do it? I know I would do anything to help my children if they wanted it. One thing I have realized with Turners syndrome is not enough people are aware so I am also raising awareness of it. This is something that affects 1 in 2500 girls and most people don’t find out till there teens or even later. We are so lucky Mackenzie was diaognosed now. Mackenzie has started growth hormone treatment to help her grow (it is doing a fantastic job). She is also part deaf too, she has hearing aids and communicates through sign. We take each day as it comes and deal with every new thing that arises. I will keep you informed of the ivf appointment and let people know how it goes. I thank you for reading my story.
If you want more info, check out this facebook group by visting the link I have posted on my page, titled More Doctors Should Be Aware of Turner's Synd.
