Lori Kobular has adult daughter, Julie, with Turner Syndrome (TS). Lori is a Turner Syndrome Foundation (TSF) board member and serves on the volunteer Awareness Committee. In this post, she answers some questions about her experience parenting a daughter with TS.
This is only one parent’s experience with TS and does not reflect every person’s experience. Every patient is different, and severity and symptoms of TS vary widely.
When did you find out your daughter had Turner Syndrome?
When Julie was born, the pediatrician and neonatologist noticed that she had very short arms and thought that she might have dwarfism, so the doctors took blood to do a genetic test called a karyotype on her. A karyotype is when the doctors look at the chromosomal make-up of cells. So, six weeks later, when the results came back, the pediatrician called us and set up an appointment to talk to us in his office. That is when we learned Julie had TS.
What were your first thoughts on Turner Syndrome?
We had never heard of TS before, so we didn’t know what to expect or what it meant. The pediatrician told us to go to Robert Wood Johnson Hospital and have her seen by a geneticist there. They did another karyotype test there, and that confirmed that she had mosaic TS. My husband and I were not happy with the way the appointment went because we felt they were treating Julie as a science specimen. There were several doctors and medical students in the room with us, and they were taking measurements and looking for information for themselves, instead of guiding us through what we could expect for Julie’s future.
The hospital where she was born had done a karyotype blood test, but the geneticist at Robert Wood Johnson wanted to repeat it. They took Julie out of the room and told us to stay behind. We could hear her crying because they tried to get blood from both of her arms and then both of her feet. So when we left there, I told Wayne that I would never let them take her away from me again to do a test of any sort. But we were first-time parents dealing with a diagnosis that we had never heard of before. It toughened us up! Because of all of this, we made an appointment with the Genetics Department at the Children’s Hospital of Philadelphia (CHoP).
Did you tell your families about Julie’s diagnosis? Why or why not? What was their reaction?
The doctors at CHoP advised us not to tell our families because they would treat her differently. In retrospect, I don’t think that was the best advice they could have given us. Our families knew something was wrong but didn’t know how to ask us about it. We wanted to get all of the tests and X-rays done first, so we had a clearer picture of how this might affect Julie. My parents waited for us to tell them. My mother-in-law took Julie to my husband’s old pediatrician while she was babysitting Julie. Because Julie was growing very slowly, she thought that I was starving her. The pediatrician examined Julie and told her that we weren’t starving her. After that, we sat down and told our parents that Julie had TS. My parents were very supportive, but my in-laws were not. They had a hard time accepting that Julie was not a “normal” child.
What did you learn about Julie’s health early on?
The doctors at CHoP told us that Julie would be short in stature, and that she would have trouble with math. They added that, if we gave her some extra help, she would eventually catch up to her peers. A cardiologist evaluated her to see if she had coarctation. She did not, but the doctors told us that she should be monitored by a cardiologist for life because she could have issues later. She also had X-rays to see if she had a “horseshoe kidney” (when the two kidneys fuse together at the bottom to form a U shape), which she did not. Lastly, they did a special blood test to see if her marker chromosome was a Y, which could have created other issues, but it was not.
How else has your daughter been affected by Turner Syndrome?
Julie was born with a very high palate, which created feeding issues where she would spit up food through her nose. She aspirated (when food enters the airway) at six days old and went to the NICU. Over the years, her doctors diagnosed her with ADHD and ODD and considered her as having multiple disabilities. She also had developmental delays and behavioral problems. We enrolled her in an Early Intervention Program, followed by a pre-school program for children with multiple disabilities in our school system.
Now, at 32 years of age, she cannot write, other than her name; can read some sight words, but not a book; cannot drive; has trouble with IBS; and has challenges with anything that requires good fine motor control. She has had many ear infections and has had to have tubes put in her ears several times. She lives in a group home and always will, because she can’t live independently.
What do you think are the most special things about Julie?
Julie is a very outgoing person! She loves to meet new people and learn about their families. She also has an amazing memory! If she meets someone new and asks about their children, she will remember their names and anything you tell her about them. Julie never has a bad word to say about anyone. She is a very happy person, loves to laugh, and adores animals. She lives in a group home and helps out her housemates all the time. Julie and I have a very good relationship, and she loves her sister Jenna and when she takes her some place. They get along wonderfullyt!
What advice would you give parents who have just found out their daughter has Turner Syndrome?
The most important thing, in my opinion, is to be a strong advocate for your daughter for medical and educational issues. Most of Julie’s doctors are not that familiar with TS, since she is usually their only patient with the condition. Be aware of the educational issues that could give her trouble, such as poor math skills and difficulty reading facial clues. You know your own child best. If you feel that something a doctor or teacher is saying about your daughter is not accurate, stand up and tell them. Don’t be afraid to speak up for your child.
For example, when Julie was in a pre-school, they shared a classroom with the physical therapy (PT) department. Several times a week, the PT would go into her classroom, behind a portable wall, with a student to play basketball. The child study team kept insisting that we should increase her medication to get her to behave in the classroom, instead of addressing the distraction. After becoming aware of the situation, I contacted the other students’ parents and asked for a meeting with the Principal, who moved the PT to a different area of the school.
Want to learn more about other people’s experiences with Turner Syndrome? Visit our YouTube channel to view all of the videos in the “Questions Campaign” series.