UPDATE May 2009

In December 2007 I noticed that Sofia was very sensitive in her rectal area. Whenever I changed her diaper she flinched and winced. She had an infection in her lower colon that broke through her colon. Stool came out of her colon and filled a pocket between her rectum and tail bone (presacral abcess). The pocket became infected and she became very ill. For several months, the doctors tried treating the infection with antibiotics. It took over 15 months, 7 surgeries and a total of 10 weeks in the hospital intermittently over 13 months to finally get to recovery mode.

Before Christmas 2008, I thought Sofia was going to die. She was nonresponsive because she was in so much pain and so infected that she would not eat or drink. Sofia lost 10 of her precious 64 pounds. She looked like a skeleton. I cried many nights and days. Then I found Dr. Le. I believe Dr. Le of Fountain Valley saved Sofia’s life. Now it is May 2009 and Sofia is finally recovering. Until a week ago, Sofia had not stood on her own two feet for over 1 year.

She now has a permanent colostomy bag, she needs physical therapy to regain the strength in her legs, and she needs to gain weight so her little body can fight off infections and viruses.

 Her beautiful, heart warming smile and infectious giggle have returned. She is getting back to being herself. She crawls out the back door into the yard and lays in the sunshine. She plays with the oven door to make the light go on and off. She stands at the microwave hoping someone will turn it on. She is a joy and a treasure.

Lucy and Carleton Waters
Home/Fax: 949-515-3856

Full T-13. Sofia walks with a walker, eats finger foods independently, eats with a spoon if assisted, and loves to be outdoors. She attends a special needs first grade and loves it. Mom is Lucy and Dad is Carleton, little sister is Geneva. Costa Mesa, California The Waters Family Click here to E-Mail submitted: 10-18-04

Sofia is a delightful, cheerful, and motivated 6-year old. She walks unassisted with a walker and cruises around the house holding onto furniture and sometimes scales the walls. She can feed herself finger foods and is nearly capable of feeding herself with a spoon. She learned to hold her sippy cup by the time she was two and is now a voracious milk drinker. Sofia loves parallel play with adults and other children. Her favorite activity is sliding down the playground slide headfirst. She is not shy and will crawl up anyone’s leg for attention. She weighs a mere 33 pounds and is about 36 inches tall. Her therapists estimate she is developmentally similar to an 11 month old child. As her mother I am a little biased, but she really is adorable.

Sofia wasn’t always so mobile and social. She was born at 38 weeks gestation and was only 4 pounds 7 ounces. She was diagnosed as Trisomy 13 when she was delivered. The ultrasounds did not show any anomalies in her spine, heart, or other body parts that would indicate an abnormality in her development during pregnancy. After Sofia was born, the nurses rushed her to the Neonatal Intensive Care Unit solely because she was Trisomy 13. The only outwardly visible indications of problems were the ulcer on the back of her skull, six fingers on each hand, and six toes on her left foot. We were fortunate that she did not have a cleft palate. She was born with a beautiful little angel face.

After 5 days in the NICU, the doctors reported the only serious problem they could find with Sofia’s anatomy was that she had too much water in her kidneys. So we decided to see how she would survive without the oxygen and heat in her incubator. We waited and watched her for an hour after they removed her from the incubator. She thrived. We finally took her home and began our journey into a land we had never been to and we did not have a map.

When Sofia was 9 months old we almost cancelled our trip to Scotland because we were afraid of the challenges of traveling with her. We decided to be brave and go on the trip. Our first stop was a visit to Nana’s house in Boston. When we arrived in Boston, Sofia had a raging fever and was quite distraught, so we went to the ER at Boston’s Children’s Hospital. Sofia had a horrendous bladder infection and spent 5 days in the hospital on intravenous antibiotics. Every curious doctor and intern came to view her and grill us with irritating questions like, “are you sure she is full trisomy 13?” We were insulted several times by their callous questions but realized that they were amazed by how healthy a trisomy 13 baby Sofia was. Their textbooks said Sofia should be disfigured and near death but they saw this adorable, thriving little baby in the bed. The doctors encouraged us to continue with our travels because Sofia was on strong antibiotics and was recovering quickly. We went to Scotland for a week and had a fabulous time. She loved car rides and was quite content to sit in her car seat and watch us enjoy the country side.

Since then, Sofia has been to the ER several times for bladder infections, upper respiratory infections, and seizures. When Sofia was two, she had surgery for ureter reimplantation because her urine was refluxing back up into her kidneys. She no longer has reoccurring bladder infections but we continue with annual ultrasounds on her kidneys.

When Sofia gets sick it usually settles in her lungs. The doctor thinks this is because she is not active enough to move the mucus out of her lungs. Now that she is more active she has fewer episodes of bronchitis and respiratory infections.

Sofia suffers from severe constipation because her bowels are rotated. Every morning we give her a laxative and periodically adjust the dose. This helps but we have not yet found a satisfactory solution. We continue to experiment with adjusting the dose and changing medications.

She used to have seizures that scared Mommy and Daddy more than they harm her. Now she is on seizure medication that works quite well and also seems to help with her concentration and patience.

We continue to learn more about Sofia’s medical needs. As she develops, new problems arise. We have learned to be patient and to watch her body language for signs of discomfort. The doctors claim to know everything but really they know nothing. They rely on the reports from Mom and Dad. It took us 2 years to learn Sofia’s true needs and the doctors’ limitations. As the parent, you are the best caregiver for your child. The doctor’s can prescribe tests and medications to assist you in taking care of your child but they need your knowledge of your child to help you. Don’t despair, after the first 2 years of learning your child’s needs, life becomes a lot easier and much more enjoyable.

Lucy and Carleton Waters
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