Cape Cod, Massachusetts
After my 18th week ultrasound for my fourth child, I received a phone call from my OB on a Monday afternoon. I immediately knew something was wrong. It is funny because earlier in the day I remembered feeling relief that I didn't get a call. Part of me knew something was wrong.
The OB said she saw a hole between the atrium of my daughter's heart. She wanted to send me to Boston to get a level 2 ultrasound. We went for the level 2 ultrasound and they thought they saw a heart defect called Tetralogy of fallot. They suggested an amnio because a large percentage of babies with this heart defect have DS or another genetic problem. I did not initially want to do it. I was 27 years old and had 3 healthy kids. We do not have a family history of genetic problems. And if there was a problem (besides the heart defect), I don't think I could of ended the pregnancy. I already loved this child...so why do it? My husband felt strongly that we should do the amnio if not for any other reason than to just get as much information as we could to be prepared. I hesitantly agreed (afraid of the miscarriage risk) and we had it done. The u/s place sent us to Children's Hospital to have a fetal echo done on her heart that afternoon. They agreed with the suspicion of Tetralogy of Fallot. My OB transferred me to a high risk OB at B+W Hospital in Boston. I had frequent non-stress tests to check on her well being. I received a call from my OB that my amnio was normal.
My husband and I felt relief but we were more worried about her heart defect. My OB planned to induce me so we would make sure to arrive at B+W Hospital on time. My last labor was less than an hour with my third child and we live 2 hours away from B+W'S Hospital. On August 29th (at 38 weeks 6 days), they admitted me to the hospital but they did not start the induction until about 3am on August 30th so the whole team of people would be ready for her when she arrived. They started the pitocin realllllly slow because of my history of my last fast labor so I would make it until morning. Evelyn was born at 6:22 PM on August 30th weighing in at 6lbs 5 oz. 18"long. I couldn't believe my eyes. I have never had a baby so small. I didn't even have to push her out. She came out all on her own. They let me spend a little time with her before they whisked her off to the NICU. I really only got to see her face well and she looked good to me. I was relieved. I was picturing a really sick looking baby who was BLUE. She looked pretty pink when she was born.
A few hours later they brought me to the NICU triage room where they had Evelyn. They said she was a pink Tet and looked really good. They had her on a monitor and her oxygen saturations were mainly in the 80's but into the 90's. They said if it wasn't for her oxygen levels she could of went to the regular nursery. They said she would probably only have to stay overnight in the NICU. While in the NICU overnight and the next day her oxygen levels would drop into the 70's and at times in the 60's. They did not put her on Oxygen because this was expected with Tetralogy of Fallot. Her color was getting worse. She was cyanotic around her lips and eyes. The soles of her feet were dark purple. The next day she had an echo which showed she DID NOT have Tetralogy of fallot but only a large ASD. A much better diagnosis but this diagnosis did not explain her very low oxygen levels. They were puzzled and wanted to continue to watch her in the NICU. The Nurse that evening noticed while trying to feed her she would drop into the 40'S.She notified the doctor and they transferred her into the critical section of the NICU. They put her into an oxygen tent. They did labs, x-ray and started an IV to give her Antibiotics. The stay in the NICU kept continuing day after day. The NICU doctors and cardiologists said she was a mystery. They did multiple tests and echos.
One night the NICU doctor called us at home around 10pm. She explained Evelyn in detail and why she was so puzzling. They couldn't figure out why her oxygen levels were so low. That night for the first time I was afraid she would die. Our family was very scared. The next afternoon while we were in the NICU she spoke with us. She started to mention little physical features that were barely noticeable to the regular eye. She went on and on with the list. And I mean on and on. I thought she was crazy. She was mentioning such remote things down to the direction the swirl of hair went on the back of her head. She said she had low tone. She said something isn't right I just can't put my finger on it. She studied my husband and my face. Part of me was irritated that she was talking about stupid things like this when last night after talking to her I was left with the feeling that she could die. Why did this even matter? She sent a neurologist and geneticist to see her. She had a MRI of her brain and EEG. She told me she wanted to send out genetic testing. I told her I had an amnio and it was negative. She seemed very surprised that it was possible. She said the genetic testing was more in depth. They decided on September 13th to do a cardiac cath to get more information.
While doing the cath they took blood to send out the genetic testing. The cath results gave a little more information. Her right ventricle muscle was very rigid and her left ventricle didn't pump well. The blood was shunting the wrong way through the ASD. It was going right to left. Her cardiologist said this could explain her low Oxygen levels. He said we could take her home on Oxygen if we felt like we could do that. We were more than ready. With three kids at home that we were ignoring and a 2 hour drive back and forth every day we were close to a breakdown. On the evening of September 15th, 2005, we brought Evelyn home. It was a good day. We had outpatient appointments scheduled for neurology, cardiology and genetics. The next several weeks at home were really hard. The anxiety over her Oxygen levels (she was on a monitor at home) and feeding were killing us. Her feeding deteriorated while at home. She had a weak suck. Breastfeeding failed right from the beginning. She would never wake up to eat. She would sleep 12 hours through the night if you let her. We had to set our alarm clock to wake her and feed her through the night. Over the weeks she never increased the quantity of formula she would drink. She would fall asleep within minutes of feeding her. I started to keep a food diary. If I spent every waking minute trying to feed her I could get about 10-12 0z a day in her. It was exhausting. She would only take 1/2 oz to 1 oz a feeding and it would take 1-2 hours to eat. She was burning more calories trying to eat than she was getting. She was on high calorie formula too. We tried every bottle and nipple ever made.
On October 17th we had a cardiology and genetics appt in Boston. The genetics doctor said someone cancelled the genetics test at the lab after they received the blood sample so the testing was never done on it. We would have to have the blood work drawn again. Her cardiologist admitted her to the hospital for 5 days for failure to thrive. They had the feeding team and nutritionists see her. She previously had a Barium Swallow in the NICU. They observed her feeding for 24 hours and then they recommended a NG tube. She was barely above her birth weight still at 7 weeks old. While in the hospital they did a trial of her off oxygen. They said if she could maintain above 80 all week she could go home off the oxygen. She did it. She maintained above 80 and even reached the 90's off oxygen. We were so happy. We replaced one tube for another. They even took her off the heart medication she was on (Digoxin) because she was doing so well. She was sent home on Friday with the NG tube and we started feeding her whatever she didn't finish in her bottle down her tube. She started to gain weight but she soon started to refuse the bottle altogether. They sent out the genetic testing while she was admitted for the NGTube.
On Monday November 21st (the day before she turned 12 weeks old) we had her follow-up genetics appointment. I was confident that the test would be normal even with all the problems she was having. I blamed everything on her heart. We sat down in her office and she started off the conversation with....Do you know what a chromosome is? Right then I knew her test was positive but for what? Evelyn's blood was 25% mosaic trisomy 21. Trisomy 21..isn't that down syndrome? But my amnio was negative! The rest of the meeting was a blur. She talked and I was off in my own head. I don't even know what she said. The only thing I remember was that she said MDS was the last thing she thought she could have because she really didn't have any physical features of Down Syndrome. She said it did explain her low muscle tone, poor feeding and heart defect though. I went home and couldn't even remember what she had.
Down Syndrome what? I thought there was only one type of Down Syndrome. Did it start with an M? I did an internet search and found the term 'Mosaic Down Syndrome'. That is it. There really wasn't much information on the web except for this site. Reading the personal stories really helped me. We slowly excepted the diagnosis. She is the same baby we have loved the past 12 weeks.
On January 5th Evelyn got a G-tube at 18 weeks old. This made a huge difference in our life. Evelyn was miserable with the NGT and was always gagging on it and throwing up. She was also getting quite good at pulling it out. It became quite clear that the feeding issue was going to become a long term struggle. She no longer ate anything by mouth but would suck on a binky. (It would frequently fall out though because of her weak suck.) On January 23rd (20 weeks old) we met with genetics to have a skin biopsy done. (Because my amnio was negative and that looks at skin cells.) The result was 20% MDS. I found out later that her exact diagnosis is Robertsonian Translocation Mosaic Down Syndrome. Evelyn is now 7 months old and gives our whole family such joy. I wouldn't trade her for anything. She is a very happy baby who rarely cries. (only when ready for bed) or sick. She does get frequent respiratory infections and has had 7 ear infections. She meets with an EN+T next month to see if she needs tubes. She has OT twice a week to work on feeding and PT once a week. She still doesn't eat from a bottle but we are starting to get success with baby food and just introduced a cup this week. She is growing great but still small for her age. She is up to 13lbs 7 oz. She probably will need open heart surgery at age 2-3 to close the ASD. She is a beautiful happy baby with striking blue eyes. She loves to crack up at her sister and brothers. And she is starting to roll belly to back non-stop!! Evelyn is truly a gift from God.
My husband and I felt relief but we were more worried about her heart defect. My OB planned to induce me so we would make sure to arrive at B+W Hospital on time. My last labor was less than an hour with my third child and we live 2 hours away from B+W'S Hospital. On August 29th (at 38 weeks 6 days), they admitted me to the hospital but they did not start the induction until about 3am on August 30th so the whole team of people would be ready for her when she arrived. They started the pitocin realllllly slow because of my history of my last fast labor so I would make it until morning. Evelyn was born at 6:22 PM on August 30th weighing in at 6lbs 5 oz. 18"long. I couldn't believe my eyes. I have never had a baby so small. I didn't even have to push her out. She came out all on her own. They let me spend a little time with her before they whisked her off to the NICU. I really only got to see her face well and she looked good to me. I was relieved. I was picturing a really sick looking baby who was BLUE. She looked pretty pink when she was born.
A few hours later they brought me to the NICU triage room where they had Evelyn. They said she was a pink Tet and looked really good. They had her on a monitor and her oxygen saturations were mainly in the 80's but into the 90's. They said if it wasn't for her oxygen levels she could of went to the regular nursery. They said she would probably only have to stay overnight in the NICU. While in the NICU overnight and the next day her oxygen levels would drop into the 70's and at times in the 60's. They did not put her on Oxygen because this was expected with Tetralogy of Fallot. Her color was getting worse. She was cyanotic around her lips and eyes. The soles of her feet were dark purple. The next day she had an echo which showed she DID NOT have Tetralogy of fallot but only a large ASD. A much better diagnosis but this diagnosis did not explain her very low oxygen levels. They were puzzled and wanted to continue to watch her in the NICU. The Nurse that evening noticed while trying to feed her she would drop into the 40'S.She notified the doctor and they transferred her into the critical section of the NICU. They put her into an oxygen tent. They did labs, x-ray and started an IV to give her Antibiotics. The stay in the NICU kept continuing day after day. The NICU doctors and cardiologists said she was a mystery. They did multiple tests and echos.
One night the NICU doctor called us at home around 10pm. She explained Evelyn in detail and why she was so puzzling. They couldn't figure out why her oxygen levels were so low. That night for the first time I was afraid she would die. Our family was very scared. The next afternoon while we were in the NICU she spoke with us. She started to mention little physical features that were barely noticeable to the regular eye. She went on and on with the list. And I mean on and on. I thought she was crazy. She was mentioning such remote things down to the direction the swirl of hair went on the back of her head. She said she had low tone. She said something isn't right I just can't put my finger on it. She studied my husband and my face. Part of me was irritated that she was talking about stupid things like this when last night after talking to her I was left with the feeling that she could die. Why did this even matter? She sent a neurologist and geneticist to see her. She had a MRI of her brain and EEG. She told me she wanted to send out genetic testing. I told her I had an amnio and it was negative. She seemed very surprised that it was possible. She said the genetic testing was more in depth. They decided on September 13th to do a cardiac cath to get more information.
While doing the cath they took blood to send out the genetic testing. The cath results gave a little more information. Her right ventricle muscle was very rigid and her left ventricle didn't pump well. The blood was shunting the wrong way through the ASD. It was going right to left. Her cardiologist said this could explain her low Oxygen levels. He said we could take her home on Oxygen if we felt like we could do that. We were more than ready. With three kids at home that we were ignoring and a 2 hour drive back and forth every day we were close to a breakdown. On the evening of September 15th, 2005, we brought Evelyn home. It was a good day. We had outpatient appointments scheduled for neurology, cardiology and genetics. The next several weeks at home were really hard. The anxiety over her Oxygen levels (she was on a monitor at home) and feeding were killing us. Her feeding deteriorated while at home. She had a weak suck. Breastfeeding failed right from the beginning. She would never wake up to eat. She would sleep 12 hours through the night if you let her. We had to set our alarm clock to wake her and feed her through the night. Over the weeks she never increased the quantity of formula she would drink. She would fall asleep within minutes of feeding her. I started to keep a food diary. If I spent every waking minute trying to feed her I could get about 10-12 0z a day in her. It was exhausting. She would only take 1/2 oz to 1 oz a feeding and it would take 1-2 hours to eat. She was burning more calories trying to eat than she was getting. She was on high calorie formula too. We tried every bottle and nipple ever made.
On October 17th we had a cardiology and genetics appt in Boston. The genetics doctor said someone cancelled the genetics test at the lab after they received the blood sample so the testing was never done on it. We would have to have the blood work drawn again. Her cardiologist admitted her to the hospital for 5 days for failure to thrive. They had the feeding team and nutritionists see her. She previously had a Barium Swallow in the NICU. They observed her feeding for 24 hours and then they recommended a NG tube. She was barely above her birth weight still at 7 weeks old. While in the hospital they did a trial of her off oxygen. They said if she could maintain above 80 all week she could go home off the oxygen. She did it. She maintained above 80 and even reached the 90's off oxygen. We were so happy. We replaced one tube for another. They even took her off the heart medication she was on (Digoxin) because she was doing so well. She was sent home on Friday with the NG tube and we started feeding her whatever she didn't finish in her bottle down her tube. She started to gain weight but she soon started to refuse the bottle altogether. They sent out the genetic testing while she was admitted for the NGTube.
On Monday November 21st (the day before she turned 12 weeks old) we had her follow-up genetics appointment. I was confident that the test would be normal even with all the problems she was having. I blamed everything on her heart. We sat down in her office and she started off the conversation with....Do you know what a chromosome is? Right then I knew her test was positive but for what? Evelyn's blood was 25% mosaic trisomy 21. Trisomy 21..isn't that down syndrome? But my amnio was negative! The rest of the meeting was a blur. She talked and I was off in my own head. I don't even know what she said. The only thing I remember was that she said MDS was the last thing she thought she could have because she really didn't have any physical features of Down Syndrome. She said it did explain her low muscle tone, poor feeding and heart defect though. I went home and couldn't even remember what she had.
Down Syndrome what? I thought there was only one type of Down Syndrome. Did it start with an M? I did an internet search and found the term 'Mosaic Down Syndrome'. That is it. There really wasn't much information on the web except for this site. Reading the personal stories really helped me. We slowly excepted the diagnosis. She is the same baby we have loved the past 12 weeks.
On January 5th Evelyn got a G-tube at 18 weeks old. This made a huge difference in our life. Evelyn was miserable with the NGT and was always gagging on it and throwing up. She was also getting quite good at pulling it out. It became quite clear that the feeding issue was going to become a long term struggle. She no longer ate anything by mouth but would suck on a binky. (It would frequently fall out though because of her weak suck.) On January 23rd (20 weeks old) we met with genetics to have a skin biopsy done. (Because my amnio was negative and that looks at skin cells.) The result was 20% MDS. I found out later that her exact diagnosis is Robertsonian Translocation Mosaic Down Syndrome. Evelyn is now 7 months old and gives our whole family such joy. I wouldn't trade her for anything. She is a very happy baby who rarely cries. (only when ready for bed) or sick. She does get frequent respiratory infections and has had 7 ear infections. She meets with an EN+T next month to see if she needs tubes. She has OT twice a week to work on feeding and PT once a week. She still doesn't eat from a bottle but we are starting to get success with baby food and just introduced a cup this week. She is growing great but still small for her age. She is up to 13lbs 7 oz. She probably will need open heart surgery at age 2-3 to close the ASD. She is a beautiful happy baby with striking blue eyes. She loves to crack up at her sister and brothers. And she is starting to roll belly to back non-stop!! Evelyn is truly a gift from God.
RSS Feed
