Joseph Merrow

Joseph’s Story

“He’s currently 21-years old. He has been the light of my life.”

Joseph Merrow, Partial Trisomy 18, del 1q, unbalanced translocation, 9/9/1994, Lakeside, CA

JosephUpdate: My first child, Tiffany, was born stillborn. My second pregnancy ended at 12-weeks with a miscarriage. My third pregnancy, Benjamin, was born two-weeks over-due and very sick. He died, 12-hours-16-minutes later. My fourth, Joshua, came screaming into the world__to my surprise__healthy. Chromosome studies were done on Tiffany and Benjamin, and both came back as normal. Even though, everyone kept telling me, all of this was a fluke, something just went wrong in the initial dividing of the cells. I never truly believed it. And, during my fifth pregnancy I find out I was right.

Joseph was my fifth pregnancy. Everything progressed normally until I had a lab test come back making my OBGYN believe my due dates were wrong. Joseph was also smaller than he should be at the current gestational age. Everything could have been left there, however, I was sure of my dates, and because of my history, an amniocentesis was suggested__and I had it done. The test came back, and the true nightmare began. One of Joseph’s #1 chromosomes was carrying an #18 end. This gave Joseph too much #18 dna, and deleted a portion of #1.

The geneticist immediately started trying to convince me to abort, knowing I was so far along I would have to buy a casket have a death certificate, and actually bury my baby in a grave. Sorry, but, NO Thanks.

The rest of the pregnancy, became a terrifying whirlwind. Keep in mind this is all happening in the 90s when medical technology wasn’t as good as it is today. I went from ultra-sound, to ultrasound. They found his heart defect the day before delivery.

Joseph was born by a scheduled c-section at 36-weeks. He was premature, because I was carrying “gallons” too much amniotic fluid, and they were afraid my uterus would actually rupture. I do not know if this is true, but I believed it at the time. Joseph came into the world blue, was rushed into another room where I could see them working on him through the glass. I never heard him cry. He was taken away to the NICU and transferred to Children’s Hospital a couple of days later.

He spent almost six-months in the Neonatal ICU, because he had a massive VSD, and he was too small to fix it. The hole in his heart was so big, he couldn’t breath on his own without his lungs being flooded with blood, so they were using the pressure of a ventilator as a cheat to keep his lungs clear. Joseph was born at 4-pounds, and immediately dropped to his lowest weight of 3-pounds-2-ounces.

Once we got to Children’s Hospital the battle was on. Joseph’s neonatologist didn’t believe it was ethical for her to treat my son. So, she tried to convince me to take my son off of the ventilator and watch him die with no treatment. I refused. The geneticist jumped on the bandwagon. She even wrote in his chart “No Hope for Survival.” I still refused. I didn’t refuse because I was naive, or stupid, and for the most part I didn’t think they were wrong. I had already buried two children. I knew first hand how bad it was. I refused because a brilliant cardiac surgeon had looked me straight in the eye and said, “I don’t care what his diagnosis is. He has a VSD. I can fix it! I fix them all the time.” The bottom line is Joseph is my child and my decisions should have been honored. When I didn’t go along with the pressure and half-truths the neonatologist tried to take the decision away from me by taking me before an ethics committee. Needless to say, she LOST. After hearing the decision she tried to stop being his doctor. The ethics committee wouldn’t allow it. They made her treat him. I will say, even though she put me through the most needless, utter hell, by trying to impose her beliefs upon me, I believe, in the end she treated my son to the best of her ability, whether she agreed with treating him or not.

Joseph survived. He’s currently 21-years old. He has been the light of my life. He is full of personality. Always happy.

I wrote a lot of the blunt details in this story, because, sadly, in the 21st Century pregnant women are still being told the same half-truths and flat out lies. All children born with T18 are not doomed to die, and the information being given to parents needs to be accurate. There are children who have T18 who can walk, talk, go to school, and there are children who don’t make it due to the anomalies. The problem I see is everyone is grouped into a category, and the category is titled “Incompatible with Life!” Do not base our children’s treatment based on the stigma of a chromosome disorder. Chromosome disorders can’t be fixed. But, many of the anomalies can. Each child is unique, and each child should be treated and valued as such.

Joseph Merrow age 19Original text: Joseph was born in late September 1994 with Partial Trisomy 18 / Deletion 1Q. Because most of his anomalies are related to the 18 chromosome he is normally referred to as T18 or Edward’s Syndrome, even though he does have some things related to the deletion of part of the 1 chromosome as well. Joseph was born with a massive VSD, coarctation of the aorta, PDA, duplication of the right kidney, absent corpus callosum, micronanthia, microcephaly, butterfly vertebrae, clenched fists, rocker bottom feet and much more. He was given absolutely no hope for survival by the neonatologist and geneticist who treated him. But, due to the skill and willingness of a brilliant, young cardiac surgeon that diagnosis did not stick. Joseph is now nineteen-years old, with a heart that is considered fully repaired. He resides in San Diego with his Mother, Brother and Step-father. His major medical problem now is a curvature of the spine.

Due to Joseph’s mother having a balanced translocation that was not diagnosed until right before Joseph was born, he survives two Trisomy angels. Tiffany born 1981, and Benjamin born 1987. Due to the anomalies Benjamin is believed to have the same combination of chromosomes as Joseph. Tiffany was stillborn.