Our daughter, Amy Rochelle Morgan was born in July of 1977. That makes her 36 years old today. Her father, Kevin, and I (my name is Lynnie) were ecstatic when she arrived as a healthy 8lb 9oz baby girl, right on her due date. My pregnancy with Amy was average until the sixth month when I started to have extreme itching in all the places one might sweat, behind the knees, underarms, on the chest, in the creases of one’s elbow – everywhere! The itching would stop when I bathed but as soon as I started to dry off I became itchy again within minutes.
I also started to have contractions from 7 months. I went to the hospital once thinking that I was in labor but was told I was two cm dilated but not ready to deliver. Full labor started a month later at 6 AM and by 8 AM, I was 10 cm. We hopped into the car and headed straight for the hospital. Amy might have been born at home or in the car on the way to the hospital but Amy was “Sunny Side Up” so once we arrived at the hospital, I had to push for two full hours. Amy was delivered at 10 AM and seemed healthy.
Amy’s first three months were average. Then her schedule seemed to be confused and she would sleep all day and scream all night kicking her feet and pumping her arms up and down as if something was hurting. She was seen time and time again by the pediatrician she was assigned at birth, but she seemed perfectly fine to him. This went on until Amy turned 7 months of age. At that point my husband, Amy, and I went away to Canada for a small vacation.
On one occasion Amy’s muscles up and down one side of her torso all locked as if someone had pulled a string. She was bent sideways but not in any pain. Another time her hands did a pill-rolling motion for a couple of hours. She seemed fine during the whole episode. We took her in as soon as we returned home. Her pediatrician examined her and turned to me and said, “Mrs. Morgan, you are a neurotic, first-time mother. Go home and have a glass of wine!” The next day I changed pediatricians.
Between seven and 11 months, Amy had many such episodes. She became tired easily, had a crazy schedule that we couldn’t seem to make right. She wasn’t hitting the milestones all my other friends’ children who were the same age were hitting right on time. It was scary and I doubted myself as a new mother. I journeled for the first couple of years, which helped me keep track of events. Amy frequently had colds and flu-like symptoms. She had a hard time recovering from the infant injections she was given and often had flu-like symptoms for no reason.
Then in November, while recovering from one of her the flu-like bouts, she woke up moaning in her crib. I picked her up to hold and comfort her and her body began to softly jerk. I called the advice nurse but was put on hold. I was on hold a long time, and as I waited, Amy’s body began to jerk more and more. She began to cry with each jerk. I gave up on the phone, put her in the car and took her to the clinic yelling, “There is something wrong and you need to help her NOW or I will sue this hospital!!!” The doctors and nurses came out of the woodwork to help then.
After that first generalized seizure, the doctors took us seriously. Amy has been hospitalized at least twice a year if not more since then. She has seen specialists in every field. She has been part of a study that was written up in the New England Journal of Medicine. She has had blood work sent all over the world in search of a definitive diagnosis. She has had two muscle biopsies (which were painful) searching for a Mitochondrial Encephalo-myopathy with no definitive outcome. One doctor suspected Segawa’s disease so there were tests done to confirm that, but the tests were negative.
We, as Amy’s parents, were asked appalling questions like: have we given her poison, are we brother and sister, etc.! Just about the only thing we haven’t done is been asked to be featured on an episode of House! If they had asked I would have said YES!!! Anything to get Amy’s symptoms out there in hopes of finding others with the same disorder or finding a doctor that might know what this is. I have even written to Dr. Oliver Sacks, the doctor featured in the movie, Awakenings with Robert De Nero. He never bothered to write back- he’s a busy man!
I started a nonprofit organization called Mitochondrial Disease Foundation of America (MDFA) – the first mitochondrial foundation to unite people with different mitochondrial disorders under one heading. I closed MDFA in support of the United Mitochondrial Disease Foundation. They had amassed a full board with a lot of financial support that I didn’t have and were located on the east coast where many of the mitochondrial specialists were located.
In 1997, Amy spent eight months in hospice because her health and mental status deteorated so rapidly that her pediatrician, geneticist and neurologist thought that she was going to die. We prepared our family and our three children for the worst. Amy is the oldest of four with one birth brother and two adopted siblings who are both FAS survivors. It was a trying eight months.
Today Amy still lives with us. Two of our children have moved out and on with their lives. We lost a son in 2010 to an asthma attack that proved fatal. My husband and I are sixty years old now. Kevin is a Contractor and I have a licensed Daycare in our home for baby’s birth to two years of age. I started my daycare (Bunny Run) so that I can care for Amy here in our home. We have help from the state via the Regional Center who sends us a nurse three days a week, for five hours a day. Amy has hallucinations and associated paranoia. She takes nineteen different medications- three for psychosis, three for epilepsy, one to keep food down, one to balance the effects of other meds and on and on. Sometimes she remembers who I am and sometimes she doesn’t. She has a lot of trouble with short-term memory.
Three months ago I heard about a program that I thought might help. The National Institute of Health has the Human Genome Project (HGP). Under that HGP is the Undiagnosed Diseases Program (UDP). We have requested that the UDP consider Amy to be a candidate in hope of two things –
1. That they may help us gain a definitive diagnosis for Amy, and
2. If they can’t definitively diagnose her that at least her test results and history will be in their computer. Hopefully someday in the future when science catches up with these rare diseases our family will be told what has caused this lifetime of pain for Amy, and our family. Then maybe future generations might be able to fund research to eradicate this terrible whatever it is!
Thank you for reading this. We have a great hope that disorders like the one Amy suffers with will be just a blot in medical history one day.