Port Jefferson Station, New York (NY) - Trisomy 13 Mosaic and Spina Bifida - Twin

Donna Dvorsky is available for phone support.
(631)476-8441  donnadv@optonline.net
 

My name is Donna Dvorsky. We live in Port Jefferson Station, NY. My husband, Todd and I were thrilled to find out I was pregnant with our fourth child in October 2006. We had 3 sons, ages 7,5, and 2 years. My 8 week sonogram was normal and I was told I was having one baby. At 12 weeks, I started bleeding. My husband took me to the emergency room and we prepared ourselves for a miscarriage. The doctor ordered a sonogram to see what was going on. I was afraid to look at the monitor for fear of not seeing a heartbeat

 My husband said he saw two babies. I looked at the screen and was surprised to see two babies' heartbeats. We were having twins. We were excited, but nervous because I was still bleeding. I left the hospital and was told to follow up with my doctor. The next day my sister, Laura went with me to my ob and the technician was concerned because baby A had a swelling around its neck and abdomen. I was sent to a specialist thinking that the baby had down syndrome.

The first perinatologist I saw told me that my twins were most likely suffering from twin to twin transfusion which means that one is poisoning the other. The chances for survival at 12 weeks were very low. I decided to get a second opinion. The second perinatologist told me that one of 3 things was occurring. Either it was twin to twin transfusion, a chromosome problem, or a virus. She performed a CVS test (for chromosomes) and a blood test. This all occurred 3 days before Christmas. I tried to make it through the holidays for my sons, but it was very hard. The day after Christmas, the nurse called and said the chromosome test was NORMAL. We were so relieved. My husband had me ask the sex of the babies and we found that they were girls. My blood work also was normal, I was told that it was probably twin to twin transfusion. I made plans to go to the Children's Hospital of Philadelphia, which specializes in this. This was a 4 hour trip.

A few days before I was supposed to go, I went back to the doctor for another sonogram. The technician couldn't believe it, but the swelling was completely gone. She had two other doctors come in to confirm the results.

At 16 weeks I went for another sonogram and everything still looked good, but I was still nervous. At my 20 week sonogram, I found out that baby A had spina bifida. I had a sister who passed away from spina bifida 32 years before. I thought that this was related. Many doctors suggested that I terminate the one twin, but we couldn't do it. We believe God gives you only what you can handle. The doctors were surprised we didn't terminate. We met with 2 neurosurgeons. We set up surgery for the day after my c-section.

I always worried about baby A, which we named Ashley in utero because we didn't like anyone referring to her as the sick baby. Every time I had another sonogram, the doctors saw a little more wrong with her. First it was the spina bifida, then a club foot, then not moving her legs, then her kidneys not filling up, then one side of her heart was larger. The doctor always attributed everything to the spina bifida. We tried to prepare ourselves for a baby who couldn't walk.

I had a c-section scheduled for June 14th, but my water broke on May 30 at 11:00PM. When Ashley came out at 4:16am on May 31st, she wasn't crying or making any noises. There were neonatologists in the room for her. They were huddled around her. When her sister, Courtney came out at 4:18 she was crying so loud. Finally the doctor bought Ashley over. He said look she has an extra finger on each hand. I thought this was odd, but didnt' suspect a thing. My recovery was rough and I needed 2 blood transfusions. About 2 hours later my husband went to see Ashley and he was crying when he came back. He said she had a lot of problems. Beside the spina bifida, and extra fingers, she was missing skin on her head, she had a double big toe, close set eyes, low set ears, and a flat forehead. The doctor said they were going to do a chromosome test on her, but because I had a normal CVS test, they weren't concerned.

I didn't see Ashley in the NICU until 6 pm. I thought she was beautiful in her own way. I was scared because she looked nothing like her twin sister. Courtney was perfect and healthy. Ashley was breathing on her own. She had a spinal surgery the next day. The doctor said it turned out well.

I left the hospital 4 days later with Courtney. It was one of the hardest things to do. About an hour after we got home, we got the news that would forever change our lives. We found out that Ashley had Trisomy 13, Mosaic. The geneticist told us that only 12% of her cells were affected and that 88% were normal. She told us that it is very hard to counsel parents with a Mosaic trisomy child because you can't tell what cells are affected. Ashley became a case study because Stony Brook Hospital where she was born had never seen this type of trisomy 13 and because my CVS test was normal.

We thought that she had some hope. I finally got to hold her and bottle feed her that week. She was a great eater. She was on a little nasal oxygen. We had a meeting with her team of doctors and discussed her long term care. It was hard because the doctors had never seen this and they couldn't answer alot of our questions about her prognosis.

When she was a week old, she took a turn for the worst when she developed a virus and started having seizures. She was put on medicine to control the seizures and antibiotics for the virus. Her body couldn't fight the infection and she was put on 4 different antibiotics. On June 8th, I got a phone call at midnight saying that she stopped breathing and had to be intubated. We were devastated. Her body started to fill up with fluid, so we had her baptized because we thought she wouldn't make it. She was a fighter and continued to surprise us. Twice we thought she wasn't going to make it and she pulled through. We tried to visit her as much as possible. Since I was recovering from a c section my husband and I went up every morning and then my husband went back every night and our family took turns coming up.

For 3 weeks, Ashley had her ups and downs. Some days were good and others were bad. She needed 3 blood transfusions. She never cried and a few times it looked as if she smiled at us. She knew when we were there. She would open her eyes when we talked to her.

As the days went on we knew she was getting sicker. The nurses couldn't find any more good veins for ivs. Then on June 23rd at 1:38am and only 23 days old, she passed away in my arms with my husband at my side. She finally looked at peace. We held her for an hour and a half after. The nurse was so compassionate. She cried with us and stayed with us. She bathed her and dressed her. Then she prepared a memory box for us.

In her short 23 days, Ashley left an impact on everyone. She bought our families so much closer. Everyone had so much hope and love for her. She will always be our special child.

It has been a hard 6 weeks since she passed, but we are blessed to have had her for 23 days. She was loved so much. She is our little angel who saved her twin sister's life. If she would have died in utero chances are so would have Courtney. Ashley will live forever in our hearts. She will live as a part of her twin sister.

Donna Dvorsky
donnadv@optonline.net