It occurred to me that some of the people visiting this blog may not know about the disease that affects Reagan or how we got to this point. So let's start at the beginning.
Reagan was born on May 21, 2010 after a completely normal pregnancy. By all appearances she seemed totally healthy and after two uneventful days in the hospital we were discharged home to begin our family life. Tim and I noticed that Reagan seemed very sleepy. She would wake up if you stimulated her, but if you left her alone she fell right back to sleep. As the hours passed she got more and more sleepy and after about 12 hours at home she stopped eating. We took her back to the hospital where she continued to slowly deteriorate. She ultimately ended up being intubated because she was barely breathing on her own. The call was made and Reagan was transferred to University of Tennessee NICU for further treatment.
Once we arrived at UT, doctors were baffled. All of Reagan's blood work, x-rays, cranial ultrasounds, CTs, MRIs...everything was normal. They could find nothing wrong with her. We were fortunate enough to run into a doctor who had seen this type of behavior before. Once. One time in almost thirty years of medicine. He ordered a blood and spinal fluid glycine level and found our diagnosis. Nonketotichyperglycinemia.
NKH is a metabolic disorder in which the body lacks the enzyme needed to break down the amino acid glycine. Once the glycine builds up in the system, it is neurotoxic. This would explain why everything was normal at first and then Reagan slowly went down hill.
Treatment was started right away and within a few hours Reagan started to improve. By the end of the week, she was breathing on her own again and by the end of the following week we were able to take her home. We had no idea what kind of life we were bringing her home to since NKH is considered terminal. We had no idea how long to expect to have her. All we knew was that we loved her and we wanted to cherish each moment we had.
Reagan was fed primarily via nasogastric tube for the first month of her life. Then she decided to start eating again. She now eats very well and is 75th percentile for weight and height.
Reagan has low upper body tone and is seen by physical and occupational therapy twice a week. She is showing signs of developmental delays, but she continues to make progress. She is on several medicines that break down the glycine for her body and also anti-seizure medications since seizures are classic with NKH.
There is a very broad spectrum of severity with NKH and we are blessed enough to be dealing with the mildest form of NKH documented. The leading expert in the country, Dr. VanHove, told us that Reagan will be able to walk, talk, eat, and learn. He told us to expect delays, but she will thrive and do well. Prayers answered.
My ultimate dream would be to eradicate NKH. I don't think that is possible, so I hope and pray that people become more aware of NKH. Tim and I had no idea we carried the genes for this disease. I would love to see more prenatal testing for NKH genes so parents can have an opportunity to be prepared. Some doctors have never even heard of NKH. This is unacceptable to me. With prayers and the help of the wonderful group NKH Crusaders, I dream of a day NKH is included in routine prenatal testing. It comes like a thief in the night and changes your life drastically. I wish we could have been prepared.
http://www.nkh-network.org/
http://www.nkhcrusaders.com/
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