Huntington’s Disease (HD) is an inherited brain disorder
that results in the progressive loss of both mental faculties and physical
control. Symptoms usually appear between
the ages of 30 to 50, and worsen over a 10 to 25-year period. Ultimately, the
weakened individual succumbs to pneumonia, heart failure or another
complication.
Emmanuelle Caron Ritchie was born on February 8, 2003, with tetralogy of Fallot. When her mother, Nicole, was 18 weeks pregnant, she went for the routine ultrasound at Northampton OB/Gyn, and found out that there "could be something wrong with the baby's heart." Nicole's doctor decided that she should have a second level ultrasound at 22 weeks at Bay State Hospital in Springfield, MA, where the machines were more precise.
Emmanuelle Caron Ritchie was born on February 8, 2003, with tetralogy of Fallot. When her mother, Nicole, was 18 weeks pregnant, she went for the routine ultrasound at Northampton OB/Gyn, and found out that there "could be something wrong with the baby's heart." Nicole's doctor decided that she should have a second level ultrasound at 22 weeks at Bay State Hospital in Springfield, MA, where the machines were more precise. A month is a long time to wait, especially when you aren't sure what the problem is. The level II ultrasound showed that the fetus' heart had a very slight defect known as tetralogy of Fallot which could be very easily corrected with surgery after birth.
After talking to Dr. Yvonne Paris, the cardiologist in Springfield, Stephen and Nicole went for a second opinion at Mass General. The cardiologist there was in agreement. The baby would be able to handle delivery fine, and would have a scheduled surgery at about 4 to 6 months of age. It was decided that Nicole would switch practices for closer care, and deliver in Springfield at Bay State Hospital, rather than in Northampton at Cooley Dickinson. The delivery went very well, and Emmanuelle spent 24 hours in the NICU, to be certain that everything was okay. She was stable, had good color, and seemed to be doing just fine. In fact, one of the NICU nurses asked why such a healthy baby was in their care. Emmanuelle went home with her family 2 days after birth. She did amazingly well, growing like any other healthy baby.
She was growing so fast, that her heart had difficulty keeping up. So, it was decided that the surgery should be done at the end of April, rather than in June. Stephen and Nicole opted to have the surgery done at Children's Hospital in Hartford, by one of the best pediatric cardiac surgeons in the country, Dr. Dennis Mello. On Monday, April 29, 2003, Emmanuelle had her tetralogy repair. It was a long, nerve-racking wait, but after giving Emmanuelle to the anesthesiologist at 9 am, Stephen and Nicole were able to see her again at 2:30 pm. Then came the recovery period. It was not easy seeing Emmanuelle with lots of tubes and wires connected to her, but that didn't last long. Stephen and Nicole spent the week at the hospital with Emmanuelle. She is a fighter and was out of the NICU by Thursday afternoon. She went home with her parents on Saturday, May 4, 2003.
Emmanuelle is now almost 3 years old and is doing just fine. She has a lot of energy, has a wonderful personality, and is a really sweet girl. She is quite the mover, and acts no differently than any other child. She will always have a slight heart murmur, but will probably never have to have another surgery.
She will have yearly visits to the cardiologist to make sure that everything stays the way it is. As difficult as it was to go through most of the pregnancy worrying about "what if," Nicole and Stephen are thankful that this defect was discovered in utero. The early detection gave them the time to prepare, become educated about the defect, and plan for the best surgical and recovery route for Emmanuelle.
Huntington’s Disease (HD) is an inherited brain disorder
that results in the progressive loss of both mental faculties and physical
control. Symptoms usually appear between
the ages of 30 to 50, and worsen over a 10 to 25-year period. Ultimately, the
weakened individual succumbs to pneumonia, heart failure or another
complication.
Emmanuelle Caron Ritchie was born on February 8, 2003, with tetralogy of Fallot. When her mother, Nicole, was 18 weeks pregnant, she went for the routine ultrasound at Northampton OB/Gyn, and found out that there "could be something wrong with the baby's heart." Nicole's doctor decided that she should have a second level ultrasound at 22 weeks at Bay State Hospital in Springfield, MA, where the machines were more precise.
Emmanuelle Caron Ritchie was born on February 8, 2003, with tetralogy of Fallot. When her mother, Nicole, was 18 weeks pregnant, she went for the routine ultrasound at Northampton OB/Gyn, and found out that there "could be something wrong with the baby's heart." Nicole's doctor decided that she should have a second level ultrasound at 22 weeks at Bay State Hospital in Springfield, MA, where the machines were more precise. A month is a long time to wait, especially when you aren't sure what the problem is. The level II ultrasound showed that the fetus' heart had a very slight defect known as tetralogy of Fallot which could be very easily corrected with surgery after birth. 
