Tara -- December 23, 2007 – about 2 ½ months
This has been quite an emotional week. I took Nathan in to see our family doctor last Monday the 17th. The nurse weighed and measured to make sure that he was growing properly. Nathan weighed 9 lbs 1oz. He was in the 25% for both height and head circumference. His weight, however, had dropped to 3rd percentile.
When the nurse asked me the typical milestone questions, I realized that Nathan hadn’t smiled at me at all even though I had been trying to get him to do so for weeks. He also hadn’t been cooing or making many noises as all except for crying, and his little stridor noises when he breathes funny. He also doesn’t follow people with his eyes much and often doesn’t really focus on anything at all. I had never really paid much attention to the milestones because my children had always been right on time or early with most of the milestones. I was a bit shocked that he wasn’t thriving as my other children. I began to worry if he was getting enough to eat.
The doctor came in and check out his abdominal and inguinal hernias. They were actually a little smaller that day. His abdominal hernia has been growing steadily for the last two months. The doctor spent some time looking at Nathan, and trying to get him to focus his eyes on him. Finally, he said that he thought that I should see the pediatrician that saw Nathan in the hospital. His nurses would call to set up the appointment. Still I wasn’t too worried. I would add more formula to his diet and that would fix things.
Wednesday morning the 19th, my family doctor's office called to say that they had an appointment that day at 1:45. For a moment, I almost said that we would need to reschedule since I was working and trying to get ready to leave for Christmas vacation.
At the doctor’s office, we weighed Nathan again and shockingly enough he hadn’t gained anything in 2 days. The nurse came in and asked me questions again. Finally the pediatrician came in. He looked at Nathan and asked why we had come in. I explained about his birth weight and missing milestones. This all took place in the first minute or so. Then he took a better look at Nathan and asked, “Did Nathan look like your other children?” I smiled and said, “No, this was the first time I didn’t get a carbon copy.”
He told me that he thought that Nathan had a genetic disorder. Then he asked what looked different. All the little things that I had noticed and considered unique about Nathan took on a different light. I commented that his chin was set back farther or smaller, his ears were different, he had an ear tag, his fingers were long, he always held his thumbs in, he mews for a cry, and then his hernias. He doesn’t eat as well as the other children, often has difficulties swallowing, and often the milk go up through his nose. He took a look at each body part as I mentioned them. He told me that he thought that it was possible that Nathan had Cri Du Chat. At that point, I told him to start writing everything down. I knew that I would want the information but would not be able to remember it all. He did better than that. He wrote everything down and wrote down a simple plan. Here it is.
Research. ?Cri du chat? Smith’s Recognizable Patterns
1. High-res chromosomes
2. Consider echo
3. Genetic referral
4. Fix hernias
5. ENT for laryngomalacia stridor
These are the things that he noted about Nathan
long fingers
cortical thumbs
retrognathia or micrognathia
low set ears with simplified helix
umbilical and inguinal hernias
weak cry but normal tone
distinctive facial features
tracheomalacia or laryngomalacia
Chromosome imbalance
5P- or Cri du chat
He also gave me some websites to visit: Pubmed®OMIM, Genetests.org. He encouraged me to research with him. He wrote a prescription to take over to the lab to get the high resolution chromosomes test.
He took pictures with his phone to use to compare Nathan to other children with different genetic disorders. He told me not to get too stuck on Cri du chat. Though, he believes that Nathan does have a disorder, it could be another syndrome.
I was going to go to the lab right away until I remembered I had 2 children getting out of school. For a moment I forgot that I even had other children! When I got home, I jumped on the Internet to find out what the heck Cri Du Chat was! That is when I read this line, “Children with cri du chat syndrome can lead happy fulfilling lives as valued members of their families and communities.” Then I knew that my world was going to shift forever.
I began reading about the disorder and called Ben. He was doing phone interview every twenty minutes and didn’t have much time to talk to me. I skimmed through the site mentioning that it was part of Chromosome 5 that had been deleted. Then I read through the characteristics of the syndrome. My heart fell as I read each of the indicators: weak, cat-like cry, small receding chin (micrognathia), low set ears, skin tags on the front part of the ear, poor eating, and slow weight gain. Not good. How could it be something other than this disorder?
I remember thinking just a few weeks earlier, that I was lucky since Nathan was only born with a few little problems like hernias to overcome. He just needed to survive a few months and then they could all be fixed in an operation. His breathing has been steadily improving. I remember feeling guilty for being so protective of Nathan when he was managing so well. So many people had children with lifelong troubles, I had thought.
Truthfully, I did pretty well that night, researching, thinking things through and staying up half the night cleaning and getting ready for leave for my parent's home. Life will be different but we felt so grateful for little Nathan. Ben kept saying that this is what the Lord wanted for Nathan and for us. Ben has been a great strength to rely on.
Thursday, however, I barely made it through work. I just kept crying and couldn’t concentrate on work at all. Emma happened to catch Ben shed a few tears. She said, “Daddy, your eyes dripped!” Our kids make all the struggles worth it.
Ben took Nathan over to the hospital to get the High resolution chromosome test done, but the insurance denied it. Our pediatrician is sending notes, etc. to show why we need to know if he has the disorder (duh!!!) and how it will affect his treatment. I thinking that I should start calling after to Christmas to find out the status of the approval. You know “the squeaky wheel gets the grease” and all. I want the test to be done now. We will have to wait long enough just to get the results back. Once we know for sure what we are dealing with, we can know how to proceed. Until then, Ben and I are going on the assumption that he has Cri du chat.
Truthfully, I didn’t want to go anywhere, even to my parents. I wanted to curl up in bed to cry and do research on the Internet. I am amazed that we left only 3 hours late. We were not moving fast.
It is hard not to get emotional about it. We want so much for Nathan. We are both so grateful for our faith in Christ that helps us realize that he will receive every blessing later. We still cry over lost dreams for him and for us.
We do funny things now. I am obsessed with getting him to open his hands. Before that appointment, I had never realized that he didn’t open his hands. When I opened his hand, I found that the skin was really tight and his thumb couldn’t fully extend. This is why he held his thumb in all the time. From that time, I have been working to help him open his hands, and to stretch the skin. He finally did by himself today.
