PeekabooNWA

Our Jilly Bean

Posted on 29. Oct, 2008 by admin in Personal Stories

wards the beginning of my second trimester, during a routine visit, I found out that I would be mommy to my second little girl. It was also the fateful day that my pregnancy turned a corner from normal, to turbulent. During a sonogram the doctor discovered that the baby had an enlarged kidney.

That week we began to pray about a name. “What about Jillian? Jillian Faith?” Nate, my husband, loved it immediately. Since names are a big deal we wanted to wait to see what Jillian meant. Imagine our delight when we looked up Jillian and found out that it meant regenerate. We took it one step further and looked up the definition of regenerate. We found it meant ‘to restore a part of the body by the growth of new tissue,’ and ‘to be born again spiritually.’ We knew that name had been whispered in our ears by God Himself!

The day I went to see the specialist was very difficult. I laid on the table for a 2 hour sonogram where they examined every inch of Jillian’s teeny body. At the end they explained that they did not know exactly why her kidney was so much larger and said that usually with one birth defect there were others. They suggested I undergo a series of tests to find out what was going on so that I could make a decision whether or not to terminate my pregnancy. We knew in our hearts that was not an option and so we didn’t feel we needed any further testing. We did however agree to continue seeing them for the indepth sonograms. It was important that we monitor the kidney and her growth, as they had also noted she had short femur bones.

At my next appointment with the maternal fetal specialist, Jillian’s kidney looked about the same but they were concerned that my amniotic fluid was low. I was told to take it very easy. So I took it as easy as a mother of a 3 year old could.

They decided it would be best to induce labor. They were very concerned that Jilly wasn’t making the proper breathing movements (I didn’t even know she was supposed to practice). After a long day of waiting, my contractions started HARD and out of no where! Little did I know that would be Jillian’s way of doing things forever. At 10:30, with my husband by my side, the nurse informed me that the baby was crowning, so I pushed 3 times and out she came. Small and quiet. She didn’t make a peep until they finally rustled her enough with a towel. She weighed 5lbs 8 1/2 oz and was 17 inches long. The first thing I noticed were her little feet. They were swollen. We had a team from the NICU there and I heard all kinds of scary words like, “nuchal fold”, “Down’s syndrome”, “hydronephrosis”. A time that should have been filled with joy was filled with fear.

Once I was settled in my room and Jillian in the nursery, we heard, for the first time, the term, “Turner Syndrome”. We were told that Jillian would be shorter than average and infertile. “OK,” we thought. “Well, being short, that can be hard, and infertility, that’s sad. But we could deal with it.” Wow. We had no clue..

In the next few months, and even still to this day, we have learned so much more about TS (Turner Syndrome). TS only affects females. Girls and women with TS are missing part or all of an x chromosome. It is true that girls with TS are almost always very short and infertile. Typically the girls are treated with growth hormones to help them reach a “normal” height. Later, they begin Hormone Replacement Therapy to help their breasts grow, regulate their periods and other things related to puberty. Girls with TS can have a mixture of problems ranging from swollen feet to hearing and vision problems, diabetes, and so much more. They can also suffer from major heart defects and even death as a direct result of complications from TS. Every girl is different in the variety of symptoms. Since Jillian’s birth we have learned that 98% of fetuses with Turner Syndrome do not make it to term. TS accounts for 10% of miscarriages. Our Jillian is among the 2% that survive!

Jillian’s case is mild compared to some that we have known and heard of. She has the lymph edema (swelling) in her hands and feet, making it very tricky to find shoes that fit. When she was 11 months old the kidney that first sparked concern was removed. She has had chronic ear infections and has a slight heart defect. There are many other small issues that we deal with. Things that we would typically write-off with our other kids we have to watch closely with Jill to make sure it doesn’t develop into something serious. We visit Arkansas Children’s hospital several times a year.

But in spite of all that, we feel that Jillian has defied odds and overcome obstacles. She is a strong, healthy, feisty and hilariously funny little 2 year old. She started growth hormones about a year ago. She gets a shot every night and will continue to until around 10-12 years of age. She “holds” the shot device and counts with us when we give it to her. We have seen AMAZING results and the doctors at ACH say she is doing “better than average”!

TS is just one part of Jillian’s life. While we will always be open and honest with her, we don’t want Jillian to be identified by TS. In our minds, all of us have obstacles in our lives. Some are physical, some emotional, or spiritual, etc. We want to equip them with the tools they need to overcome those obstacles. To learn that these obstacles do not have to defeat them and that trusting in God can get them through anything.

When we first found out about Jillian we were clueless, scared and desperate to relate to someone on the topic. We were fortunate to find out about Jillian’s diagnosis very early. Unfortunately, many women do not find out they have TS until their cycles become irregular, they can’t conceive or suffer from a number of seemingly unrelated circumstances. A woman who has been trying to conceive and cannot may write-it off as infertility. With an awareness of Turner Syndrome, she and her doctor would be able to make the connection between her short stature, thyroid issues and even vision problems along with the infertility. The sooner TS is diagnosed the better chance treatment options have of being successful.