Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

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Molly-3 years old

Diagnosis-Partial Trisomy 18q

USA

 

Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

Molly LaRae Miller was born on June 26, 2011. She was born 2 days before my due date and was just a tiny thing. She weighed in at 5 lbs 11 oz and was 17 inches long. We were so in love. After holding her in my arms for 10 minutes she turned blue and stopped breathing. A code was called and she was whisked off to the NICU. They informed us that they had gotten her breathing again and that she had just inhaled some junk on the way out. She would stay in the NICU for observation and we could go visit soon.

Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

We went to see her and was informed upon arrival that they had noticed some phsyical abnormalities that concerned them. Her ears were very low set and she had a small jaw that was set too far back. She had two small dimples on each of her ears and add in her very small stature for a full term baby. They wanted to do some genetic testing. My world was spinning and I didn’t know how to comprehend what was being said to me. The doctor informed us that they thought she had Turners Syndrome. They explained what that was and then said they wouldn’t know for sure until the end of the week to get back results.

Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

That night a friend called me and explained to me that her daughter had Turners Syndrome and I had no idea. She answered all my questions for me and told me it’s something I could handle. Over the next few days we read up everything we could on Turners Syndrome and began to come to terms with it. This wasn’t so bad. No one would even have to know she had a disability unless we wanted to tell them. Finally at peace our world was shattered once again when they told us they had discovered 2 flaps of skin that didn’t close in her heart after birth. They said they could still close over time but we would have to keep a close eye on it and if it didn’t it would require surgery.

Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

We finally got the results of the genetic testing expecting to confirm what we thought we already knew. We were wrong. A doctor took us a side and told us that our daughter had something called trisomy 18 or edwards syndrome. He had printed out some literature off the internet that explained more about it. He then informed us that the Molly would most likely not surived past her first birthday. He told us her qualilty of life wouldn’t be great. She wouldn’t never be able to talk or walk and that we should cherish the time we have with her. We were then given information on a genetics doctor up at Primary Children’s in salt lake that followed specifically kids with this syndrome and that he would be able to help us better understand what to expect.

Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

The next week was a blur of emotions. Our world had been shattered once again. I feel like we were on auto pilot trying to get from one day to the next. We were finally able to take her home after three weeks in the NICU. Because of her small jaw she was not able to feed well. To take her home we had to agree to feed her every two hours, including the middle of the night to keep her weight gain up. Because of her heart and set back jaw she also would have to wear oxygen and a heart monitor around her chest. None of this was in any of the pregnancy books I had read. I didn’t know how this would ever get easier.

Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

We finally had our appointment about a three weeks later with Dr. John Carey at Primary Children’s. This was the good news that we needed to hear. Dr. Carey informed us that Molly didn’t not have the typical, text book case of Trisomy 18 or Edwards syndrome. Molly has Partial Trisomy 18q. This means that instead of having a whole extra copy of the 18th chromosome like typical Edwards syndrome she has just a piece of extra material. She also has a small portion of the chromosome where some is missing. This makes Molly a little more rare. There isn’t very many cases out there for him to compare to or tell us what to expect. He told us that we would follow her and see but it didn’t seem as if she would have the typical trisomy 18 attributes. Since seeing Dr. Carey that first visit he has been very impressed with mollys progress.

Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

Molly is now almost 3 years old and she has exceeded everyone’s expectations. Molly is physically and mentally delayed but learns and does things at her own pace. Weight has also been an issue for us and getting her to grow. To keep the threat of a feeding tube at bay we feed her every 2 hours. We are constantly trying to pack calories. She also drinks lots of Pediasure.  She eats solid foods and drinks from a cup with a straw. She has had chronic constipation since birth that we treat with miralax. We have tried growth hormones to help with her height and possibly weight. The hormones interfered with her walking development so we decided to wait.
At 6 months old she had a VSD and a ASD repair on her heart. At 9 months old she sat on her own for the first time. Also at 9 months old she had a manibular jaw distraction and her aneroids removed to correct her severe obstructive sleep apnea. Half way through her treatment she developed an infection in her jaw and had to be rushed in for a pic line where we pushed antibiotics the remainder of the treatment. 6 weeks later she had the equipment removed. At 18 months she crawled! We are working with early intervention services and are very close to having her walk. Something in the beginning they told us would never happen. She can pull her self up to a stand and walk with a walker or holding someone’s hand. She is able to sign a few words and say about 15. She can identify over 30. She learns at a rate we never thought possible.
Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

The first year was so hard with her being in and out of the hospital with respiratory infections and colds. In her first 18 months between sickness and surgeries she had over 20 hospital stays. Luckily her immune system since has greatly improved. Molly has had countless blood draws, echoes, EKGs, chest x-rays, a CT scan, MRI and a number of other tests performed on her. In the face of all of this she is the happiest little girl you will ever meet. She has such a spirit about her that you can’t help but smile when you are around her.
Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q

Molly loves to be outside. She especially loves to go on walks. In a stroller, a wagon, or just holding daddy’s hand and doing the walking herself! She loves to throw things and watch Mickey Mouse Clubhouse. There is nothing she loves more than mickey mouse expect probably feet. Yes, feet. Molly has a very big foot fetish. She loves to hold them and smell them. She thinks it’s pretty funny. She also loves shoes. For someone that can’t walk Molly has a very impressive collection. If you ever meet Molly she will more than likely point to your shoes and say off. She will there point to her feet and say on. She loves to wear shoes, especially other peoples.  We are so grateful and humbled to have her in our lives and be her parents. Being a special needs parents isn’t something you can ever prepare for. We are constantly learning new things every day. It’s been hard and it will continue to have it’s ups and downs but we wouldn’t change it for anything. Molly is the light of our lives and we love her dearly.
Molly-Partial Trisomy 18q

Molly-Partial Trisomy 18q