Mosaic Trisomy 16
We were elated to finally find we were pregnant after almost two years of trying to conceive. We just could not believe that it finally happened! Finally, a family...
Our dreams were crushed on Valentine's Day, 2000, when my doctor called with the results of the amnio, which had been recommended after my triscreen test came back abnormal twice. The doctor would not tell me what was wrong, just that there was something wrong with the baby and that she probably would not make it to term. We saw him in his office that afternoon and were told of the trisomy. We were devastated.
We immediately went in to see the genetics department at St. Mary's Health Center in St. Louis, Missouri. They tried their best to explain what was going on, even though they really did not have many answers or much information for us. We felt so alone and lost and desperate. All of the cells in the amnio were affected, so the outlook was very grim for us.
We chose to continue with the pregnancy; if this baby was not going to live, it would not be by our hands. The next few months, however, were very difficult. Lots of our friends were pregnant, lots of baby showers, lots of tears. We did not make any plans for the baby, did not prepare the nursery, etc. We did found out the baby was a girl, and we named her Emily Marie. The pregnancy was monitored closely by ultrasound, and she kept growing. A heart defect was found, but the doctor labeled it mild. In April, we met with one of the doctors at St. Mary's and he said to plan on a normal delivery! We could not believe our ears! Those were the only positive words we had heard since February.
On May 21, 2000, while vacationing at a nearby lake, my water broke at 5:30 a.m. I think that was the most scary moment of my life. I was so scared we had lost her! I was taken to our local hospital and then transferred to St. Mary's. I was on complete bed rest. By Saturday, Emily was not looking good on the monitors, and the doctors decided it was time for her to be born! I was so scared; we still did not know if she would make it or not.
Emily Marie came out with a loud cry at 3:36 p.m. Saturday, May 27, 2000, weighing 2 lbs., 6 oz. She was whisked away immediately, BREATHING!!! I cannot even explain the relief I felt that she was alive. Emily was in the NICU at St. Mary's until June 21, 2000, when she was transferred to Cardinal Glennon Children's Hospital due to NEC. She got very sick. Dennis and I were so scared we would lose her to this. However, she bounced back in a few days.
Emily got to come home on August 10, 2000, weighing 5 lbs., 5 oz. Other than some difficulty feeding and some heartrate drops, she is doing really well. There are no abnormal cells in her blood, and the skin biopsy showed only 2 abnormal cells out of 50. All of the cells in the placenta were abnormal, the cord only had two vessels in it.
Emily is such a little miracle! She is starting to develop her own personality, and we know she is going to be a fighter! We are looking forward to seeing her grow and blossom...
UPDATE NOVEMBER 2001
Hope all is well with everyone............ it is certainly a busy time of year in our household. We had a tree down in the yard the same week that Emily "supposedly" had a double ear infection, followed by diarrhea from the antiobiotic. Throw in a wedding shower for a future sister-in-law, worrying about our nation's safety and future, etc etc. I have been a little stressed lately!
Anyway, Emily graduated from nursery follow-up on Oct. 25!!!! We were very excited. The psychologist who tested her said that her development, overall, is right on at 15 months (which is her corrected age). That was a huge relief for us. He is a little concerned about her attention span, and her speech is still pretty far behind (about 12 months).
We also saw the ENT/audiology team at Cardinal Glennon on Oct. 29. Her hearing is excellent -- she even heard things I barely heard! The ENT dr also said that her ear infections are being misdiagnosed as there is absolutely no fluid in her ears. I was sure we would be getting tubes, since we were treating her 7th "infection" since February. NO tubes! He referred to "negative pressure" in her ears, caused by a cold.
Emily is still receiving developmental therapy once a week, and we will be starting speech therapy in the next few weeks. Her occupational therapy was stopped this summer.
She is becoming a little girl before our eyes! She is no longer a baby, and has certainly become very independent.
UPDATE APRIL 2002
Emily is doing great -- her only real delay at 22 months is her speech. She is still saying just one-syllable words for the most part. She receives developmental therapy once a week yet, and they concentrate quite a bit on her speech. She is such a joy to have in our family! She is certainly developing a mind of her own, and once she decides she wants something, she does not give up. Her therapist says this is good, but I think it is going to drive me insane!
We are talking about trying to have another baby in the coming months; this "project" certainly scares me since we had a hard time conceiving Emily. Infertility treatment is so hard!