Going back a little further, Madison has had some educational struggles since she started school at 5, none of her teachers (she was at a charter home school) would entertain my concerns. When she was 9 I was tired of hearing it, and had the local school test her. She was dx'd with NLD (non-verbal learning disability), dyscalculia and dysgraphia - and the journey began. In learning about NLD I learned many that many (up to 99%) of young girls with a genetic condition called Turner's Syndrome (TS) have it. At the time, I didn't give turner's another thought.
A short while after I began noticing just how small Madison was. Her brother, who is three years younger, was larger than her (they were often mistaken for twins). I began researching and found out about 'mosaic turner's syndrome'. The collegiate in me researched tirelessly. I knew she had it. I found a new amazing doctor who would listen. A week after the blood draw we had confirmation. Madison has Turner's Syndrome, or 'TS'.
Once we got the confirmation we had to do testing - and lots of it, to get a thorough understanding of how TS affects her. We found out that she has a heart defect (she went 11 years not knowing!). Her official cardiology dx. is bicuspid aortic valve, regurgitation and widening aortic root. Thankfully none of these issues affect her activity at this time. We also found her uterus and ovaries are underdeveloped (common with turner's as only .5% can conceive). We already knew she was incredibly short (at the time of dx she was exactly 4 feet tall, 11 years old).
What does this all mean? It means Madison has nightly injections of human growth hormones as a means to help her grow and help her bones gain density and prevent long term health issues. It means she meets with an endocrinologist every other month, a psychiatrist every other month, a pediatric cardiologist once a year (for now). She has had blood draws endlessly and has seen renowned geneticist (she has a very unique DNA presentation of TS, no typical 'xx' cells, some are even 'pseudo isodecentic').
The long and short of it.The survival rate of TS is a mere 1 in every 2500 pregnancies. One, yes, One. My daughter is a miracle in the true sense of the word.
I am joining 'go fund me' so that Madison and myself and her daddy can try to attend the annual TS conference this summer (Dallas Tx!). She deserves to feel 'normal,' to meet others like her. They have activities to help these young women build self esteem, deal with the medical aspect of their dx. and even to help them deal with the harsh reality that they will not bare children in a traditional fashion (Thank goodness for adoption!). For us parents they have support groups (being a special needs mom is hard, especially when you have medical, educational and psychological struggles to reckon with), informational sessions, new research and so on.
Sadly the plane tickets alone for myself, my husband and Madi will be close to 1300 (rough estimate) the conference will be around 700 (based on last years rates) and we still have hotel costs and expenses like luggage, food and so on. Being a one income family (I am a PhD student) and having two other children, affording this conference will be next to impossible. I thought I should reach out to friends and family and maybe even some strangers and see if I could get a little help in helping my daughter and boosting her up.
A little about Madison - She's 11.5, she is now nearly 50 inches!! (that's two inches of growth since we began treatment). She loves to dance and sing and read and draw. She's really into Japanese animation, too! Beyond that, she's awesome. She is a lovely child, a blessing, and my miracle. She struggles in school, but works so hard to get good grades. I want nothing more than to offer her this opportunity to feel normal - every day she has to reckon with the cross she has to carry, which is much larger in my opinion than any 11 year old should have.
Please consider helping us, if you can't please press share maybe someone else can. Thanks for reading, and I will do my best to answer your questions.
Awareness is key.
(p.s. February is TS awareness AND heart disease awareness month, wear your purple and red!)