On May 23, 2000 I found out that I was nine weeks pregnant with my first child. My husband, Jonathan, had an aortal coarctation as a child and had surgery to repair it when he was two years old. Any pregnancies we plan to have will be considered high risk because of this. My OB-GYN referred us to a perinatologist who we met with for the first time when I was 18 weeks pregnant. The doctor performed a routine ultrasound at which time we were elated to learn that we were having a girl.

During the ultrasound I noticed a look of concern on the doctor's face. He told us that there were things he noticed in the ultrasound that lead him to believe there may be a chromosome abnormality, such as Down Syndrome. I remember him asking us more than once how tall both of us were because the baby's femur was on the small side, indicating that due to our heights (I'm 5'6" and my husband is 6'1") our baby's height was not matching up. He also noticed a thickening at the back of her neck, another chromosome abnormality indicator. At this time he said that her left ventricle was smaller than her right. All of this came as a surprise to us. I went in there worrying about whether I was going to have a girl or a boy and was faced with making the decision of whether or not to have an amniocentesis done right away or wait a day. We couldn't call any family or friends because we were all alone in this city that we had been living in for just under a year, hundreds of miles away from our closest support network. We decided to go ahead and take the chance of having the amnio done. I have, or should I say had, a fear of needles, but the procedure was not nearly as bad as what I had read or seen pictures of. The results wouldn't be in for a week or so, so we were to go about our lives as if nothing was wrong. My biggest fear right after the amnio was the chance of miscarriage. Even though a small percentage of pregnancies, that have an amnio performed, result in miscarriage, this was still a scary realization for me because I was 25 years old at the time. I had read that amniocentesis was only performed on mother's who were 35 years or older.

Eight days later the perinatologist left me a message at work regarding the results of the amnio. This is when we learned that our baby girl had Turner Syndrome (TS). I broke down crying. My husband had taken a genetics class in college and had at least heard of it, I had not. We immediately got online at work (we worked for the same company) and began pulling up information about TS. We were told to go to the hospital and meet with the head of the NICU so he could explain exactly what TS is. A social worker accompanied him as they showed us pictures of TS girls in some old textbooks and told us where to research TS on the internet. They also brought up the fact that we could choose to terminate this pregnancy, which we immediately dismissed. Neither of us would ever consider an abortion and I was horrified that they could even suggest this. In retrospect, it really bothers me that so many women are given the option to abort when TS girls live very normal lives, but with a lot of medical assistance. The NICU doctor also warned me that it was highly likely that I would miscarry and that I would need to carry the baby to 26 weeks for her to be considered viable. Those eight weeks were some of the most worrisome weeks of my life and even the weeks afterward. All I wished for was that this baby would be carried to term.

The underlying fear of wondering what TS characteristics Madison would have and what she would like was another stress within itself. We chose only to share her diagnosis with immediate family and our bosses at work. None of my closest friends had any idea of what we were going through. One thing that helped tremendously was the online support group for TS parents I joined shortly after learning her TS diagnosis. Although I did not understand a lot of the things the moms on the group discussed at the time, it gave me hope to know that my daughter would be normal too.

My due date was December 30 and our ongoing joke was that she better be born on time or early or we wouldn't get the tax deduction. My OB-GYN and perinatologist were planning on inducing me before my due date because they both believed it would be necessary. They both made a lot of comments towards the last few weeks that they believed I would have her early. Of course no one can predict or tell you when you're going to have a baby, but those two weeks before she came were practically unbearable. The stress of the holidays, leaving my job, not being near family and being in constant pain from heartburn and difficulty sleeping made me wish that labor would start soon. Not to mention twice weekly visits to the OB and frequent non-stress tests.

God answered our prayers on Sunday, December 17, 2000. I woke up around 5:30am after going to bed just a few hours earlier. I had been nesting the night before and even assembled the stroller all by myself! I didn't want to wake my husband that morning because I wasn't really sure if I was in labor because all of the pain was in my back. By 10am my husband awoke to find me laying on a futon in another room. I was half out of it from being really tired and told him that I might be in labor. We phoned the doctor about an hour later and he told us to come to the hospital when contractions were 5 minutes apart. Not too long after we phoned him the contractions started getting closer together, so we rushed around to get everything ready to go. We arrived at the hospital around 1:30pm. I labored for only a few short hours. I had just been given an epidural so I was feeling much better, but things were a little foggy. I didn't have much of a chance to push because Madison's heart rate was dropping and the doctor informed us that he would have to use the vacuum to get her out quickly. For my husband, it was a defining moment in his life. He saw his wife trying so hard to push this baby out and this baby whose life could be in jeopardy. At 6:15pm I gave birth to a beautiful baby girl named Madison Faith. We chose the middle name Faith at the delivery because our faith in God is what got us through a terrifying pregnancy and an equally scary moment during the delivery. She weighed 6 pounds, 4 ounces and was 18 inches long. Her apgars were 9 and 9 and everything appeared healthy. She was jaundiced and just below the allowable level of being sent home, so on December 19 we brought home the most precious gift we had ever been given.

At just over 7 months old, Madison had her share of medical issues, but thankfully there hadn't been anything too serious. She had GERD (reflux) and was on three medications to keep it under control. She has also had four ear infections and was off and on antibiotics to control them. The ear infections stopped completely until she was around 13 months old. She attended Occupational and Physical therapies once a month in an Achievement center to prevent her from being delayed developmentally. At two weeks old she was given an echocardiogram to rule out any serious heart problems. Fortunately, a bicuspid aortic valve, which is not too serious an does not warrant surgery until later in life. Other TS characteristics that were visible to us were wide space nipples, a uniquely shaped torso and being very small for her age.

At the end of September 2001, when Madison was 9 months old, we moved back to Indiana to be closer to our families. Madison's weight had been fairly stagnant, so we were referred to a Developmental Pediatrician at Riley Hospital for Children, who diagnosed her as failure-to-thrive at 10 months old and ordered me to stop breastfeeding. I had wanted to make it to one year, but was happy that we made it to 10 ½ months. I wanted to do whatever I could to help Maddie gain weight. Initially it did help, but to this day she still have a calorie booster added to her whole milk and feed her fattening foods.

By December 2001, Madison's Developmental Ped had made a lot of necessary referrals for her to see all the specialists related to TS. In addition, she was concerned with Madison's head size, which had always been in the upper percentiles on the growth charts, versus the rest of her which was hovering around the bottom percentiles. My husband and I didn't think too much of the head size as Jon has a larger than average head. She was also concerned that there may be an actual reason that Madison had always been so irritable. On December 31, 2001 Madison had a sedated MRI of the head.

Once again, my life starts on an emotional roller coaster. Only this time I'm a stay-at-home-mom to a daughter that I have devoted my life to. When I was working full time, it was so much easier to throw myself into my work rather than stress over the prenatal diagnosis of TS. The same daughter who I cried endlessly for when I carried her, knowing she may have many problems in her life because of her TS, had something else seriously wrong with her, something that could not be caught in utero. On January 9, 2002 we were informed that Madison has what is called an Arnold Chiari Malformation, Type I. It is possibly related to TS, but very rare. The neurosurgeon who diagnosed the condition left me with a bad taste in my mouth. Upon leaving his office, I was very distraught and confused. He said we would wait for the symptoms of Chiari to worsen and then perform surgery when she was around 5 years old.

My Mother's Instinct went into overdrive. I immediately located and online support group (just as I had when I was pregnant with Madison and learned of TS) for Chiari parents. Eventually I was lead to a private group. I noticed that the group only saw about 3 pediatric neurosurgeons in the country, no matter what part of the world they lived in. God blessed us again, as one of the neurosurgeons with extensive Chiari surgery experience, was Dr.Kerry Crone at Cincinnati Children's Hospital in Ohio. A mere 2 hour drive from Indianapolis! His office gave me one of his first available appointments and fortunately, he was covered by our insurance company. He told us that he does not operate on all of his patients, but that Madison would be one of the children he would need to operate on. By May 9, 2002 Madison was having a major brain surgery. Three long days later, she was released from the hospital with a vertical scar at the base of her neck. The scar has faded drastically within 4 months of her surgery. At some point her hair will grow longer and cover it completely. She has also progressed amazingly. My underlying fear is that she will need this surgery again when she is older. The doctors are optimistic that her case would not be one that they would have to go back and re-operate on, but the fear for us is very real and a part of our lives. The older a person is, the harder this type of surgery is on the child or adult. The only thing that got us through these tumultuous months in our lives was relying heavily on our faith and having the support and prayers of everyone around us, including people we didn't even know! God had now given us 2 miracles in our lives!

Right before her surgery, her annual echocardiogram was performed and it was noted that a small hole in her heart had not closed. It's called a PFO (patent foremen ovale) and should close sometime after birth. For now, the cardiologists will watch it as they do her bicuspid aortic valve.

As far as specialists, Madison currently sees the following at 22 months of age:

Cardiologist: annually

Urologist: annually (they watch her kidneys, as they are horseshoe shaped)

ENT (they inserted her first set of ear tubes one month after her brain surgery and only see her when problems arise)

Neurosurgeon annually, after December 2002 (they perform a sedated MRI a few weeks beforehand to monitor her Chiari)

Developmental Pediatrician every 3-6 months (they follow her weight progress, or lack thereof)

Endocrinologist every 3 months (they follow her growth after she starts growth hormone in Nov. 2002)

Madison currently receives OT & PT in our home through our state's Early Intervention program. She started walking just after she turned 19 months old. Her low muscle tone contributed to this delay. Her fine motor skills have always been on target, as has her speech. When you look at my beautiful daughter, you would never know how much she has been through in her short life, unless you knew her entire story. Many new people we have come into contact with are shocked to learn of all her medical concerns, as physically she looks like a happy, healthy toddler. In 18 months, she had over 50 separate doctor appointments/procedures and 2 hospitalizations. Since that time, we have lead a somewhat normal life of only going to the pediatrician when she's ill or to monitor her weight. She is quite a handful and can be very demanding at times. Through all this, our beautiful Madison Faith is the light of our lives!

Interested in reading the story of another baby girl born with Turner syndrome? Baby Rosie's story is featured in Fetal Cystic Hygroma section.