My Miracle

Do you believe in miracles?

Because I certainly do.

I gave birth to mine.

Our oldest daughter, Madelyn, entered the world a month early on March 31, 2008, under terrifying circumstances via an emergency C-section due to HELLP syndrome. HELLP basically meant that my liver was shutting down rapidly and unexpectedly, and I was suffering from severe pre-eclampsia. My life was in serious danger, but I was fortunate to have amazing doctors who worked quickly to bring Madelyn into the world. She weighed a teeny 4 lbs. 11 oz. and was 17.5 inches long, and she had a beautiful head of blonde hair. Due to her prematurity, she spent two weeks in the NICU. From those early days of snuggling her tiny body on my chest while I visited the NICU, to seeing her struggle to learn how to feed and gain weight, I knew our little girl was a fighter.

The first year was hard. Like, crying and sobbing in her rocking chair because she wouldn't eat hard. Or gain weight. Dump extreme sleep deprivation, stress, fear, constant worrying, and some good ol' postpartum depression on top for good measure, and I was a hot mess all.the.time.

My goal was to breast feed, despite our obstacles with prematurity and her NICU stay. I pumped for three months, telling myself I was "the best mom ever," only to cry endlessly when my supply tanked because she wouldn't latch properly. When I was finally told by her pediatrician that I MUST put her on formula because she was diagnosed with Failure to Thrive, it was like being punched in the gut. I drove cautiously to the store to buy Similac NeoSure, tears streaming down my face, feeling like the most defeated mom in the world.

At her one year well visit, she only weighed 14 lbs. 11 oz. She gained exactly ten pounds in one year. TEN. I was shocked. I felt like the doctor was judging me. "Are you SURE you're giving her the right amount of bottles?" We received a referral to the GI department of our local Children's Hospital for feeding therapy, and various GI testing. Madelyn was a trooper through it all, always smiling and working as hard as she could during all the tests.

These agonizing visits to the GI department and feeding therapy continued for almost a year. At last, the time came when Madelyn would tolerate Cheerios on her tongue, or would swallow miniscule bites of chicken nuggets and whole-milk yogurt without making herself throw up. The series of tests and worrying finally came to an end. Or so we thought.

At Madelyn's four year well visit, she was still way below the chart for height and weight. Our little preemie never experienced that sudden growth spurt that most premature babies eventually reach at one point or another, so her pediatrician referred us back to Children's for blood work and bone growth tests in Endocrinology.

June 5th, 2012

My phone buzzed. We'd been waiting two weeks to see the screen flash with the Endocrinology number. Results. We were finally going to learn why our girl wasn't growing and thriving as she should.

"I am sorry to inform you... your daughter has Turner Syndrome."

I dropped the phone. All air escaped my lungs like a balloon being popped with a sharp object. 

When you're told that your child has a medical issue, regardless of said issue, your typical responses sound like this: "WHAT?! How are we just now learning of this? What does this MEAN??"

I was a blubbering, crying nutcase, and the Endocrinologist had to ask me several times to "Calm down, everything is going to be all right. We would like to request that you and your husband come to the hospital for a private consultation to discuss the test results." 

If you're like me, you're probably sitting there wondering, "Huh? What IS Turner Syndrome? I've never even heard of this." 

I resisted my itching fingers' desire to type "Google" in my web browser. Surely, a more reputable web site exists in cyber space to calm my nerves and answer the 6,491 questions that were firing amongst my synapses at that unbelievable moment.

Luckily, I found this link that answered maybe about 5,276 of those aforementioned questions in an hour's time. My husband and I encourage you to click the link here below to learn more about Turner Syndrome (TS).

I will attempt to breakdown the basic information of TS that I needed to know once we learned of Madelyn's diagnosis. (Get ready to be thrust back into your high school sophomore Biology class!)

• Baby girls should have the chromosomal make-up of 46XX. Likewise, baby boys should be 46XY.
• Turner Syndrome results when all or part of one of the X chromosomes is lost before or soon after the time of conception. It is among the most common chromosomal abnormalities, yet few have heard of it. There is no known cause for TS, and it is not genetic.
• Classic Turner Syndrome results when a female in utero is completely missing a sex chromosome (resulting in 45X). Girls with this karyotype tend to have noticeable features of TS and often are diagnosed soon after birth.
• Mosaic Turner Syndrome results when a female in utero is partially missing a sex chromosome, or has other varying deletions to the sex chromosomes (45X/46XX, 45X/46XY, for instance).

It is important to note that not all girls with TS will exhibit the same physical features or medical issues. Below is a list of common conditions associated with TS:

• Short stature
• Webbed neck
• Triangular face
• High arched palate
• Slight droop to the eyes
• Broad chest 
• Low hairline at the back of the neck
• Toenails turn upward
• Heart defects (Aortic coarctation, Bicuspid aortic valve)
• Puffy hands and feet (especially at birth)
• Frequent ear infections
• Delayed puberty
• Kidney/Thyroid/Liver concerns
• Hearing loss
• Scoliosis
• Celiac disease
• Non-verbal learning disorders (especially in Reading and Math)
• Diabetes
• Infertility due to non-functional ovaries

Madelyn was diagnosed with Mosaic Turner Syndrome. She has many of the above characteristics, including a bicuspid aortic valve and Aortic Valvar Stenosis, or narrowing of her aortic valve. Her karyotype is 45X/46XY. She has a rare form of mosaicism in that she has both X and Y chromosomes.

Girls with TS can lead healthy, productive and normal lives. The typical medical treatment to help girls with TS grow to achieve a normal height is Human Growth Hormone (HGH). My husband and I must give Madelyn a shot six nights a week before bedtime until she is about 12 or 13.

Please stop for a moment and envision how bedtime at your own house looks: whining for one more book, one more drink of water, the never ending bath drama. That's our house too, but add in the requirement of a nightly shot. It's like taking your kid to the doctor for a well visit and you all KNOW shots will be involved at the end. You choose to ignore the massive elephant in the room because you're trying to fast forward to the ride home when lollipops, stickers and Goldfish are enjoyed in the car after the buckets of tears and piercing screams. This is the scene at our house. Six nights a week.

The first 6 months of giving the shot were agonizing. I'm pretty sure I cried on a nightly basis, all the while practically having to pin her down to give the medicine. It was harder on my husband and I to get used to than her. After her tears had dried, she would pick out her princess, Dora or Hello Kitty band-aid, then affix the chosen sticker to her monthly chart that she and I decorated together. Rinse. Repeat.

Did I mention that HGH is the MOST expensive drug in the United States? Yup. It definitely is. Wowza.

Thank goodness I have amazing medical insurance. I'll leave it at that.

Due to Madelyn's unique karyotype (45X/46XY), there was a strong risk for gonadoblastoma, or cancer to develop near her ovaries. I still remember the day we heard this news from her doctor: "Madelyn will need to have surgery soon to remove her ovaries. I'm sorry, but she will be unable to have children of her own."

This reality of Turner Syndrome still remains the most difficult part for me to accept. My sweet baby girl will probably NEVER be able to have children. There have been some cases of girls with TS getting pregnant via IVF, but there are high risks involved due to the mother's heart condition, namely, aortic dissection. My husband always reminds me that our youngest daughter, Olivia, could possibly one day choose to donate her eggs to her sister, so that she may have children. Simply thinking of the implications of that process tend to give me a whopping migraine, so I usually just head for le vin rouge when these thoughts dance in my head.

Every now and then, Madelyn will utter a variety of the following statements:

• "Mommy, one day, I'm going to be a great Mommy just like you."
• "Mommy, one of the teachers in my school has a baby in her belly. I can't wait until I have a baby in my belly when I get older."
• "Mommy, what will it feel like when a baby is in MY belly?" 

Most of these comments have been shared while driving in the car, and she'll just blurt them out of nowhere. My heart has stopped in my chest, and I have had to fish for my sunglasses (even on an overcast day), to hide the fat tears sliding down my cheeks.

My blanket response: "Of course you'll be a good Mommy, sweetie. There are many different ways to be a Mommy and to have a family when you get older." 

Sigh.

Our brave girl had a gonadectomy on October 18th, 2012, to remove both her ovaries and fallopian tubes. Explaining the need for the surgery was the most difficult. Madelyn knows she has Turner Syndrome--we try to educate her as best as possible on what she needs to know at this stage in her life so she feels less confused about all the doctor visits and the reason for her nightly shot. She doesn't need to know about the birds and the bees at age five.

I remember sitting in the lobby of Children's Hospital, grappling with the reality that was underway behind the doors of the operating room. My baby was lying on an operating table. She doesn't completely understand why. I was a wreck, to say the least.

She pulled through the surgery just fine, and the doctors said that she had "streak ovaries" and "barely developed" fallopian tubes. No eggs at all, no ability to conceive a child in the future. Of course, I knew this going into the surgery, but hearing it out loud from the surgeon's mouth made my heart break over and over again. Thankfully, no cancerous cells were found as a result of the surgery. Another huge sigh of relief. Madelyn will begin Estrogen Replacement Therapy at the age of 12 or 13 in order to trigger puberty and further development.

We feel so lucky to take Madelyn to the Turner Syndrome Clinic that exists at our Children's Hospital in Cincinnati for frequent check-ups with Endocrinologists, Cardiologists, Developmental Psychologists, and other medical personnel who specialize in TS. They truly make us feel comfortable at every visit, and Madelyn has impressed her doctors by growing a whopping seven inches since starting the hormone therapy in June 2012! Woo hoo!

Check out this video of Madelyn's doctor discussing TS awareness!

Madelyn's infectious smile and always-happy-bubbly personality make me so proud to be her mom. She has the kindest heart, and she is such a "people pleaser." She doesn't know a stranger, for she often approaches randoms at Kroger (Hi, there, Mr. Cashier), and talks their ear off. One day the Stranger-Danger talk will hopefully resonate with her.

She has always been incredibly strong for how small she is, and she has muscles for days! Her love is gymnastics, and she has been participating since she was 18 months old.

It never fails. I'll be sitting in the stands at her gymnastics practice, watching her flip and twirl and do her amazing candlesticks on the rings (see above!), and a random mom will say "Whoa! Your daughter has such big leg muscles! Has she always been like that?!"

I proudly beam and say, "Yes, she's always been built like this."

What I really want to blurt out is, "She has a medical condition. It's called Turner Syndrome. Would you like me to elaborate?"

But I don't reply with that retort. Even in August when she's swinging from every pole at the playground, and random parents are whispering under their breath, "Wow. Look at that little girl! How old is she? Three? How is she that strong?" Even then. Because Turner Syndrome is NOT what defines our daughter. My husband and I tell her this on a regular basis.

Future Olympic gymnast? Maybe. The girl with Turner Syndrome? No no no nope.

Madelyn's other hobbies include arts and crafts projects, playing dress-up with her little sister, any outdoor activities, and tea parties galore. She wants to be an artist, a bus driver, or a teacher when she grows up. We feel fortunate to have found a local family support group for girls and women with Turner Syndrome, and we have formed lasting friendships with so many wonderful girls and families affected by TS. It's definitely comforting to know that we're not alone.

Madelyn and her friends having fun at the annual TS family picnic.

February is Turner Syndrome awareness month. I felt compelled to tell our daughter's story, in the hopes for an early diagnosis for another girl sometime in the future. Thank goodness our pediatrician had the experience and knowledge to refer us to Endocrinology when Madelyn was four and something just didn't seem right. Sadly, so many girls with TS are not formally diagnosed until age 9 or 10 on average, when GH treatment may be too late to help them grow.

I ask that you please share this post to promote awareness of Turner Syndrome. Over 80,000 girls and women are currently living with TS in the United States with approximately 1,000 new cases being diagnosed each year. However, clinical research and funding are severely lacking. We hope that spreading knowledge and awareness leads to earlier diagnoses and a better future for girls with TS.

I've saved the best stats for last:

• Turner Syndrome affects 1 in 2,000 births of baby girls.
• 10% of miscarriages are the result of Turner Syndrome. 
• Out of the fetuses with Turner Syndrome, only about 1% of them survive to term.

Only 1% of babies with Turner Syndrome are actually born. Only 1% of these babies' mothers actually get to hug, cuddle, and LOVE their daughters with Turner Syndrome.

 

The first moment I met our beautiful daughter, Madelyn Grace.

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She is my 1% gift from above. I wouldn't change her for anything in the entire world.

She is truly my miracle.