Sunday, October 5, 2008

Our Jilly Bean

When I was pregnant with my second child, somewhere towards the beginning of my second trimester, I went in for a routine Dr's appointment. I can't remember now exactly why but the doctor decided to do a sonogram. I was excited because I had been anxious to find out the sex of the baby. I found out that day that I would be mommy to my second little girl. That was also the day that my pregnancy turned a corner from normal, to turbulent. During the sonogram the nurse noticed that one of the baby's kidneys was significantly larger than the other. She called the doctor in and he looked at the screen for a while, then explained ALL the possible scenarios, but said that he wanted to send me to a maternal fetal specialist to look closer.

I made an appointment that day before leaving the doctors office. When my husband came home for lunch, I told him that we were having another girl. He was very excited but I started crying as I explained about the kidney. He was worried but was very comforting and assured me that God would help us get through whatever it was.

That week we were praying about baby names and trying to see what we liked. We couldn't seem to find one thing we agreed on. On a Sunday morning while driving to church, I said "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. We knew that Faith was the substance of things hoped for and the evidence of things unseen. Imagine our delight when we looked up Jillian and found out that it meant regenerate. The definition of regenerate is- cause a complete spiritual or moral reform in. 2.To effect change. 3.To restore a body part by the growth of new tissue. 4.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 was scared and worried about what they would tell me. They asked very in depth questions about family history and then I was taken to have a sonogram. I laid on the table for nearly 2 hours as they examined every inch of Jillian's teeny body. At the end of my visit 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 listed off at least 7 possibilities. 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 in depth 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 so low. I was not put on bed rest, just told to take it very easy. So I took it as easy as a mother of a 3 year old could. My fluid was lower still at my next visit, around 25 weeks, and I was told if it got any lower that I would be admitted to the hospital. So, I slowed down and drank alot of water. Around 30 weeks I began going to my regular OB 2 times a week. On Tuesdays they did a non stress test and on Thursdays sonograms were done to monitor my fluid They did both things because the baby was so small and not growing or moving much. For the non stress test I would have to lay there with a monitor around my belly and push a button every time I felt her move. Several times she barely passed.

I went in for an appointment a few days after Christmas, just shy of 37 weeks and during my sonogram they were very concerned that Jilly wasn't making the proper breathing movements (apparently the babies "practice" breathing in utero.. I never knew that!), so they sent me to the hospital. There I was monitored and it seemed that Jillian had started moving as she was supposed to but that my fluid was at a 2 ( extremely low) and they were getting concerned with her other kidney. My doctor decided that they would go ahead and induce the Tuesday after New Years. I was put on bed rest and my parents came to help take care of Emma.

We arrived at the hospital at 7:30 Tuesday morning and pitocin was started at 8. It was a looong day. I started having mild contractions, but they were not hard enough to do anything. Things went on like this until around 7:00 p.m. I sent my husband and parents down to eat. As soon as they walked out of the room my contractions started HARD and out of no where! Little did I know that this would be Jillian's way of doing things forever. I called my husband to come back up. I got an epidural half an hour later and went to sleep. A nurse came in and checked me around 10:30 and 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 rustled her a little with the towel. Then she quieted down again. She weighed 5lbs 8 1/2 oz and and was 17 inches long. The first thing noticed was her little feet. They were swollen. We had a team from the NICU there and waiting 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. Thankfully, Jilly Bean was well enough for me to nurse her right then. While she did have to stay in an incubator in the nursery, she never did have to go to the NICU like we originally had thought.

When I was settled in my room and Jillian in the nursery undergoing tests, we had a doctor come talk to us. That was the first time we had ever heard the term, "Turner Syndrome". We had no idea what it was and it was explained to us that if the tests confirmed Turner's then 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 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 them grow breasts, regulate their periods and other things related to puberty. But it doesn't end with shortness and infertility. Girls with TS can have a mixture of problems ranging from swollen feet to hearing and vision problems, diabetes, and so much more including major heart defects and 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 survived!

Jillian's case is mild in comparison 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 in several different departments for various monitoring.

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 keeps the family laughing! She loves to color, swing, slide and play with sidewalk chalk. She adores her big sister and her baby brother, Nathaniel, is her biggest fan. 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. It was hard at first but now she hardly notices unless we have interrupted her play time to give it. Now she even "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 teach ALL of our children that their identity is in Christ. That they are who HE says they are, they can have what HE says they can have, they can be what HE says they can be. 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 they can trust and believe God for ANYTHING.

Our lives are blessed because Jillian and her sister and brother are in it. Any challenge, any obstacle, any heart ache is worth the joy they have brought to our lives and the lessons they have taught us.

I wanted to write this article to bring awareness to Turner Syndrome. 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 at birth about Jillian's diagnosis. Several women do not find out until their cycles become irregular, they can't conceive or any other assortment of seemingly unrelated circumstances. Because the symptoms of TS are not restricted to TS and can affect women and even men for that matter, who do not have it, often TS is not suspected until many other options have played out. A woman who has been trying to conceive and cannot may write it off as infertility. But perhaps with awareness of Turner Syndrome, she and her doctor would be able to put together her short stature, thyroid issues and even vision problems along with the infertility and make the connection. I believe that by making people aware of Turner Syndrome, we can save so many women agony, depression, pain, financial burdens and poor quality of life. The sooner TS is diagnosed the better chance treatment options have of being successful.