As I wrote before, we believed that Daniel had Charcot-Marie-Tooth (CMT) disease. CMT is by no means a pleasant or easy journey. Right now, I would give anything, including my life, for Daniel to have CMT.
On April 28, I saw that Daniel was struggling to sit upright on the floor. This was very alarming because CMT affects the hands and the feet. There was no reason for Daniel to be struggling to use his core muscles. I took video and thought about calling the Johns Hopkins emergency line. My husband, Dan, was coming back from a trip to Florida. During his layover, we spoke. He, who has never thought it was CMT, urged me to call Hopkins.
I called the number for the neurologist on call. She returned the call in about 20 minutes and, rather over her head because Daniel's type of early-onset CMT is not common, she had our regular neurologist, Dr. Crawford, call. He urged an appointment the next day.
We came into the office with Daniel and Dr. Crawford performed his exam. He said he saw signs that were concerned and implied that Daniel's disease involved the central nervous system. CMT is soley a peripheral nerve disease. His legs were rigid at times. He had some neurological sign where his big toe came up. He in general, did not present like he did before. This is the first time that we heard the word leukodystrophy from a doctor. I, because I am a crazy researcher, had read about these diseases before. I had dismissed them. Daniel didn't have seizures. He had no sight or vision problems. His speech, while not improving, had been about right for his age.
Dr. Crawford ordered bloodwork and an MRI. When we went to schedule the MRI, they said that they would call in 4 to 5 weeks. That seemed an eternity. On the way out, the Musclar Dystrophy Clinic coordinator Theresa, who has been wonderful, told us that she would do everything to get us in as soon as possible.
We had an MRI four days later. It's never good when doctors move mountains for you.
Waiting for the MRI was rough. Dan, I think, was just waiting for the bad news to fall. He had always said that Daniel's disease was progressing too fast for it to be CMT. I alternated on what I thought. I would suddenly be sure we would get bad news. Then, after doing some research, I would convince myself that it was not any leukodystrophy. They did not fit. I would cry and then feel better.
We went to the MRI on Friday. The doctor's put Daniel under. It was terrible seeing Daniel on the large, hospital bed. We went to the large waiting room. It was late in the day and there was only one other couple in there. We waited.
Before the MRI, I told Dan that I thought Dr. Crawford would be there. I had in mind a picture of House looking at the images as the brain was scanned. I didn't admit to Dan that I was thinking of a TV show but I insisted that he would be there. Dan scoffed at the idea and said that if the doctor was there, he would be very worried.
Dr. Crawford came out to give us the news. Daniel had white matter in his brain. At first, I was calm. I asked if he could tell the type. He said no. I asked if it was ADL, which had a distinct pattern, and was my hope since there were some treatments. He said it wasn't ADL. At this point, I lost it. Dan began to cry. We both sat on the couches and felt our world end.
I hope you never have to see how the world reacts when you just found out your child is going to die. The other couple in the waiting room, almost 50 feet away, retreated to give us privacy. The cleaning lady offered us tissues and water. When we pulled ourself together and went back to get Daniel who was waking up from anesthesia, the medical staff waiting for us had tears in their eyes. The medical bay with over 20 beds was completely empty. It was late but no one hurried us. We were offered more water. It turns out you get really thirsty when you are sobbing. I think offering water is part of the training for medical staff.
Daniel when we went back was crying for mommy. A nurse was trying to unsuccessfully calm him. We had a big family hug, all of us, crying.
On April 28, I saw that Daniel was struggling to sit upright on the floor. This was very alarming because CMT affects the hands and the feet. There was no reason for Daniel to be struggling to use his core muscles. I took video and thought about calling the Johns Hopkins emergency line. My husband, Dan, was coming back from a trip to Florida. During his layover, we spoke. He, who has never thought it was CMT, urged me to call Hopkins.
I called the number for the neurologist on call. She returned the call in about 20 minutes and, rather over her head because Daniel's type of early-onset CMT is not common, she had our regular neurologist, Dr. Crawford, call. He urged an appointment the next day.
We came into the office with Daniel and Dr. Crawford performed his exam. He said he saw signs that were concerned and implied that Daniel's disease involved the central nervous system. CMT is soley a peripheral nerve disease. His legs were rigid at times. He had some neurological sign where his big toe came up. He in general, did not present like he did before. This is the first time that we heard the word leukodystrophy from a doctor. I, because I am a crazy researcher, had read about these diseases before. I had dismissed them. Daniel didn't have seizures. He had no sight or vision problems. His speech, while not improving, had been about right for his age.
Dr. Crawford ordered bloodwork and an MRI. When we went to schedule the MRI, they said that they would call in 4 to 5 weeks. That seemed an eternity. On the way out, the Musclar Dystrophy Clinic coordinator Theresa, who has been wonderful, told us that she would do everything to get us in as soon as possible.
We had an MRI four days later. It's never good when doctors move mountains for you.
Waiting for the MRI was rough. Dan, I think, was just waiting for the bad news to fall. He had always said that Daniel's disease was progressing too fast for it to be CMT. I alternated on what I thought. I would suddenly be sure we would get bad news. Then, after doing some research, I would convince myself that it was not any leukodystrophy. They did not fit. I would cry and then feel better.
We went to the MRI on Friday. The doctor's put Daniel under. It was terrible seeing Daniel on the large, hospital bed. We went to the large waiting room. It was late in the day and there was only one other couple in there. We waited.
Before the MRI, I told Dan that I thought Dr. Crawford would be there. I had in mind a picture of House looking at the images as the brain was scanned. I didn't admit to Dan that I was thinking of a TV show but I insisted that he would be there. Dan scoffed at the idea and said that if the doctor was there, he would be very worried.
Dr. Crawford came out to give us the news. Daniel had white matter in his brain. At first, I was calm. I asked if he could tell the type. He said no. I asked if it was ADL, which had a distinct pattern, and was my hope since there were some treatments. He said it wasn't ADL. At this point, I lost it. Dan began to cry. We both sat on the couches and felt our world end.
I hope you never have to see how the world reacts when you just found out your child is going to die. The other couple in the waiting room, almost 50 feet away, retreated to give us privacy. The cleaning lady offered us tissues and water. When we pulled ourself together and went back to get Daniel who was waking up from anesthesia, the medical staff waiting for us had tears in their eyes. The medical bay with over 20 beds was completely empty. It was late but no one hurried us. We were offered more water. It turns out you get really thirsty when you are sobbing. I think offering water is part of the training for medical staff.
Daniel when we went back was crying for mommy. A nurse was trying to unsuccessfully calm him. We had a big family hug, all of us, crying.
Sue, thanks for creating this blog and sharing the intimate details of your agonizing journey. It brings tears to read but it also brings insight and a bit more understanding of Danny's disease.
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