To Our Daughter Emily Anne
We love you and we miss you
Every Day in Every Way
Forever in our hearts....
My Name is Mrs McDonald, from New Jersey, USA. I am 29 years old of Cuban descent & my husband is 40 years old, American of Irish and Polish descent. The disease that affected our baby girl is considered a jewish disease, since it's predominant in the European jewish population. , and neither family (my husband's or mine) fit the profile.Therefore in a small world like this one, is hard to pair ourselves in us versus them, since it is obvious from our case, that it can affect anyone.
We have been married for six years We tried to have children before but all four pregnancies ended in miscarrieage, until Emily Anne, that is our daughter's name. My pregnancy with Emily Anne, hadn't a single problem until September 23, 1995.
Mind you, the day before, I was working and had gone to the doctor for my regular check up. I was very swollen, but nothing of it they said. Just rest and put your feet up as much as you can. We had waited for this baby for so long.
I had many doctors, because I was High Risk. My specialist decided to do an Amniocentisis Test, because I was so swollen, to lessen the swelling up a bit. The baby that day was 32 weeks He tapped in, but took amniotic fluid too fast, the placenta ruptured. Baby's heart stopped, and off to the emergency room I went and they performed a crash cesarean. the baby was born in cardiac arrest. After three minutes the doctors resusitated her and she was placed on a ventilator. I had no idea what had happened until I woke up in recovery with the shivers. I looked at my stomach and realized it was flat, I asked my husband what had happened and he said we had a baby. I said what are you talking about? My husband tried to explain, but I was too weak to pay attention.. Go figure the shock!!
The doctors said the next 24 hrs were critical in her life. She managed to make it thru!!. Emily Anne was born with an enlarged spleen and liver. She weighed 4 pounds 5 ounces and was 16 1/2 inches long. Lots of hair, very petite, very beautiful, very precious, so lovely and cute. She was 2 months early. She came off the respirator 2 days later (what a joy), and she was placed on a nasal cranula and a warmer. In the meantime, she was transfused with platelets practically daily, red blood cells and plasma, as required. A month went by, and the doctors were just perplexed, all tests on Emily and myself came back negative.
She was tested for everything imaginable. In addition, they brought all kinds of specialists available in medicine. Then they asked us to consent to a bone marrow test. It was crucial in determining Emily's condition. Three weeks later, they tell us is Gaucher Disease, a very rare disease. The doctors had never heard of it, and nobody knew anything about it. Everyone went to work. The doctor started doing research on the disease from their library, but all material on it was three years old.
Research indicated that the condition when found on an infant was FATAL, but since the material was old and disease so rare, the doctors figured in three years a lot can happen. We contacted doctors all over the USA. We were still hopefull.
There are 3 types of the disease Type 1 (Adult) Curable, Type II (Infant) very rare & Fatal, & Type III (Children) could go either way Fatal or Curable. Doctor from NY saw Emily and told us that Emily had the Fatal kind. We were devastated. He gave her 2 to 4 months.
There's gene replacement therapy for the disease, the cure for type I, and the curable in type III, but in type II, there is neurological damage because they are so young. We debated whether to give the therapy or not. It had been tried once before on a baby, but efforts were futile. The baby is still alive, but a vegetative state hooked up to all sorts of machines.
We decided that Emily didn't deserve the pain, or suffering of that kind of life , and we opted to let nature take its course. It was the hardest decision we ever made. Gaucher Disease is the inability of the body to get rid of fats. Instead, it stores them in the liver, spleen, and in babies, well, the brain. All the specialists on Gaucher brought in to confirm the diagnosis had never seen a case like Emily's. Later on, we were told that Emily was the first case in medical history (of Gaucher) to be born showing signs of the disease so early, and live that long.
Everyone wanted pictures, videotapes for their journals. We allowed them to photograph her once, and no videotape. The hospital she was born in was a teaching hospital. We thought that if it could help another baby, well, there was a purpose. Previous accounts have occurred at four months of life or later, and the life expectancy is up to 18 months. Emily Anne was a very sick baby, but not once, did she show it. She managed to smile and behaved like any other baby. She loved her pacifier so much. We dressed her, bathed her, fed her, played with her. We loved her a lifetime, because that is all we had together.
She passed away on December 10, 1995. We arrived 5 minutes after she passed away. My husband and I now think she was tired, very tired. Emily fought so hard for her life. She slowly whithered in front of our eyes, and that was horrendous to watch. To the end, she knew who we were, and that means the world to us. We held her until we were ready to let her go. I cried all day that day, & haven't stopped since. I am numb, & to this day, I can't get rid of it.
We gave her the most beautiful funeral there was. There were 150 people at her wake. People that we had never met, but had come to care for Emily just the same. Friends, nurses, family, doctors, acquaintances, strangers. She looked beautiful, just like a doll, I picked her outfit myself. She has all her toys with her, and her music box she so much loved. We miss her so bad. When Emily Anne died, I did too!!.Within.
She looked just like her father. We took many pictures and a movie. I carry her pictures with me. I cry every day, frequently. I can't understand. I keep thinking about her, and nothing matters to me. I feel empty, lonely, numb, dead, angry, devastated. It has been the worst of our lives. We take it one hour at a time.
A friendly and compassionate soul from Europe sent me this: It is absolutely beautiful, and it helps somehow. God Bless his soul !!
The Morning Glory That Blooms For An Hour
Differs Not At Heart From The Giant Pine That
Lives For A Thousand Years..
How true that is.
M M. McDonald