Charysmah's Story
This is long because I needed to write it for me. But I also hope it can help someone if they need it. Charysma’h was born November 23, 2004 by induction. She weighed 7 lbs. 6 ozs. There was a little trouble with her weight gain, but everything else was good.

Charysmah's picture taken May 2006

From the beginning she would scream for no reason and could not be soothed by me or her daddy. I just felt there was something wrong. But everyone told me she was fine.

Around 2 months she started having these spasms that kind of looked like gas she was trying to push out. But they were stronger. I showed a couple of people in my family and they said she just had gas. So I left it all day, but by night time I was really starting to worry. So I took her to the emergency room. We were of course there for hours and they eventually sent me home saying I had a beautiful healthy baby and stop worrying. But when we were there they didn’t see her having these spasms. I knew something was wrong and I was livid when I got in the car that night. When I got home I put her in the bed with me and set up the video camera. All through the night I got up changing the tapes to try and catch one. The next morning I got one on tape. That was also the first one my husband saw her have. He said right away for us to get dressed he was taking us back to the hospital.

So I took the video camera and thought if they see this and they say there is nothing wrong with my little girl, then I will go home and be fine. But they have to see what I am seeing before I leave this hospital. As soon as they saw the tape, they admitted her saying that it was a seizure. We were in the hospital for a month. And they could not figure out the root cause. They diagnosed her with Infantile Spasms. They told me she would not be “normal”, that she would be mentally delayed among other things. But still they could not find a root cause for any of it. They did a spinal tap on her. 4 nurses held her down while they did it. It was horrible. I just sat in the hall and cried. The results came back normal. They released us and had her on Sabril/Vigabitrin saying they were going to try the ACTH injections to try to control the seizures. Which is a steroid and it makes them very fat. She was on that for a few months and her seizures were hardly there but she couldn’t do anything she was so fat and uncomfortable.

Charysmah and her brother while she was on ACTH.

My son, her older brother, was the only one who could make her smile. And that was few and far between. For a year they were still trying to find out the root cause. Running tests after tests. We saw neurologists, geneticists, nurses come to the house, occ. therapists, and physio therapists. It was crazy. I didn’t understand any of it. Questions were everywhere, but not any answers.

One day in December of 2005 we had an appointment for some blood work and had to see her geneticist afterwards. So we went up and saw a different geneticist (hers was out of town). He told us his name got put on her bloodwork results by accident, but he would see us anyways that day. So we went in and he said her results were fine. Blah blah blah. We left.

He called about a week later saying he needed us to come back in. We went back, and he said she has a disease called CDG Syndrome. He said it was chance that he got her file before and that he looked at all the symptoms she had, and he was almost positive that was what she had. It just so happened he was supposed to go to a CDG conference that weekend where top experts on CDG would be and he had taken her file and showed one of them. That doctor said yes it is definitely a case of CDG. At last our questions were answered. But our lives were turned upside down all over again. Trying to understand that we both have this gene and gave it to her. And trying to understand everything that came with it. Like the fact that she will never be cured, or probably will never run because it affects their muscles in their legs and so on. Like the fact that I was pregnant and any child we have has a 25% chance of having the same thing. He offered to do tests on my unborn child and I asked him how accurate the tests are, and he said they are not 100% and there is risk involved of losing the baby. I told him “NO!”. He had asked me previously if I had the tests done would I abort the pregnancy if the results were positive, and once again I told him “NO!” We have one child who doesn’t have any problems and I was going on Faith. It’s strange to remember his words the day we came in his office, when he said he got her file by “chance“. Because I say it was God pushing us in the right direction. Her other geneticist didn’t even know about this Syndrome because it is so rare and pretty newly discovered. Needless to say our third child was born in May 2006 and is doing perfect!

Charysmah continues to grow and she is a beautiful, happy, & cuddly girl. Although some days are hard, we always find the strength to keep going. She has trouble seeing, she doesn’t stand or sit unassisted, and she doesn’t talk. She does a few things to let me know what she wants. But we have a lot of people involved with her. And they give us ways to teach her and equipment we can use to help strengthen the muscles she needs to sit and stand and so on.

Our house is always crazy with 3 kids. A 6 year old boy who needs to go go go, Charysmah (CDG), and Kaelyn who is 10 months old and I can not keep up with. But they keep us busy and we’re happy and so are they. So we must be doing something right!!

I have a support group for CDG families on Facebook if anyone is interested. Its called - CDG Syndrome Support Group & Info. Facebook is another web chat like MYSpace. It is free and easy to register. You can find me by searching for Chrysti Harpole or the group I created for CDG families. It is open to everyone and it would be great if anyone wants to join. You can chat with other parents about CDG and post pictures of your beautiful children!! I hope to reach more people. I also put a link to CDG Family Network for information.

eff: 04/26/2007