Moms, Just Follow Your Gut - by Dawn Aye, TSSUS Board Member
Hi, my name is Dawn Aye. I live in a small blinking light town in Montana. My closest “small town”, doctor, hospital, Walmart and fast food is 90 miles away from me. My decision to want to become part of the TSSUS Board of Directors is because of my daughter, Becca.
I am a strong proponent of the old saying, “follow your gut”. I was 38 when I was pregnant with my 4th child. It was recommended that I have a CVS (Chorionic Villus Sampling) due to my age. The test showed a disorder that, like most, we had never heard of before, Turner syndrome. The report also mentioned that I needed to have an amniocentesis because there was a chance that the TS only affected the placenta and not the baby.
TS then became my one and only focus. We were nervous and scared and didn’t know what to do. We were lucky, however, my OB happens to have a niece who also has TS. His niece at that time, had 2 children using donor eggs, so he gave me all of his knowledge and assured me, all would be well. I have come to find out since then that so many other families aren’t that lucky and don’t have a doctor with much knowledge. Even my doc had limited knowledge. This is where TSSUS shines! I researched and studied everything that I could possibly find regarding TS. When the test finally came back, it said that no, our precious girl did not have TS, it was confined to the placenta. While my OB took the test results as final, my “gut” said otherwise. I continued my research and that was when I found the Turner Syndrome Society of the United States. That website was a wealth of information.
With the knowledge that I had gained from months of research, the majority of it coming from the TSSUS webpage alone, I just had that feeling that something wasn’t right. My gut was screaming. I was still monitored as high risk due to the placental TS diagnosis and, at 36 weeks, walking around at 4 cm dilated, low fluid and other complications that would have been “monitored” had we not had placental instability, we were advised to induce her. She was average size for her gestational age at 6 lbs. 11 oz and 19”. Another sign that my OB said, no TS. But again, my mommy gut told me, test her.
After meeting our new pediatrician later that day, who was also new to being a pediatrician, I convinced him to test her directly. My mommy gut would prove correct. She had mosaic Turner syndrome. So, I proceeded to teach this new pediatrician everything I had learned from months of research and directed him to the TSSUS website. Sadly, doctors aren’t taught a lot about different disorders, so it became my job to teach everyone that would potentially treat her, that included my OB. My OB could not understand how the amnio was wrong, so I had to explain to him that that’s how mosaicism works. It affects so many random things.
To this day, I am still teaching him. Did you know that with mosaicism, you can test skin cells on both of your arms but it’s possible that one arm could be one cell line, 46XX for example, while the other one could have a different cell line, 45X, for example? I learned of so many stories similar to that about mosaicism from our geneticist. That’s why, in some cases, it is difficult to diagnose. Our geneticist told us a story about how someone “looked” like they had a specific syndrome, but multiple skin and blood test showed a “normal” cell line. However, this patient later had heart surgery, and they tested the heart tissue. It was the heart tissue that showed the syndrome that the doctors had suspected but had been unable to diagnosis.
My mother, Becca and I attended our first TSSUS conference when Becca was 7 months old. We went to every session, took pages and pages of notes, met amazing, wonderful women who had TS, talked to so many parents and learned all I could in 3 short days. We even met 2 other babies with TS. I still have a picture that was taken of the 3 babies with TS.
I decided right then that I would go to every conference that I could. We started going every other year and brought my other 2 children that I still had at home. My kids loved going to the conference! It only took 3 conferences to realize, every other year is not cutting it, we are going to go every year. Becca’s 2 siblings loved going to the sibling groups. Not only did they meet great friends, get to have a ton of fun, and do a lot of activities, they were able to connect with other kids that knew the same struggles they knew when dealing with their sister. At the conference, they have resources to help them. They have professionals come and talk to them, guide them, and help them cope with the big things, as well as the little things.
And Becca, well, she had all of that too, but she has so much more. She learned what it was like to have TS and how to deal with what that means and entails. As the rest of the family struggles to find ways to cope in certain scenarios, so does she. Why is she different; why does she struggle; why is it hard to learn certain things; why doesn’t everyone else get upset when things aren’t put exactly so or done a specific way, every single time? Why doesn’t she like change; why is it hard to make and keep friends; what will her future be like, will she be able to have kids? These are things she wonders and asks herself, just as we ask the professionals about her.
The information we have gotten and continue to get from the TSSUS website is invaluable. I print out the guidelines for whatever doctor we are going to, and tell them, please, do this. This is what she needs. You see, to me, doctors have a hundred patients to worry about, how can they possibly know every single thing about every single disorder that there is? I, on the other hand, have 7 patients. My children, my husband and myself, therefore, it’s my job to help the doctors and teach the doctors as much as I can. And if they won’t accept my help, I’ll find one who will - and I have, even when we have to drive 3 hours one way to see them.
We still go to the conferences every year. I stopped attending every session and instead, for the last 8 years, I just help wherever I could. I wander the halls just pitching in where they need help, popping into a session if there was something that I wanted to learn more about or to see the newest recommendations. But, the fact is, the main reason I am going at this point, is for Becca. So that she can see and be with her friends and other girls that are like her, people that understand her. So that she can prepare for whatever next year’s challenge would bring. This past year, all 3 of my kiddos decided they didn’t want to go to the groups anymore, they just wanted to help out. Even Becca. Becca was a youth counselor for the little kiddos and was in her element.
Becca just turned 18 in November and has been on the honor roll every semester except one. She has been accepted to every college she has applied to. She is athletic, she is smart, she is stubborn, and often inflexible, and she struggles with many things, but most importantly, she is knowledgeable. She has learned, and does, advocate for herself. She knows many of the struggles she will face but, thanks to all of the information that she has learned at the TSSUS conferences, she will know how to tackle each obstacle.
So, why am I on the TSSUS Board? One day during last year’s conference, it was mentioned to me that I should apply to the Board of Directors. In the 18 years I have been going to conferences and scouring the TSSUS website, I had never even considered it. So, I thought about it. I am forever grateful for TSSUS for all of the knowledge and help they have given me for the last 18 years. They allowed me to advocate for my “patient”. Whether they are aware or not, they have become my teachers and my family. So, after thinking about it, I just decided to follow my gut, again, and applied for it and now I am able to give back and to help those who need or want help, just like TSSUS has done for me all of these years. Knowledge is power, especially with our girls but still…. just Follow Your Gut.
