Friday, June 27, 2008
Day at the Park
Today my mother and I took Puppy and his older brother, my 3 year AJ, to the park. AJ had so much fun running through the sprinklers. I'm trying to get him to play with other kids as he's so shy. He kept running up to the water and then right before approaching the other kids he would run back saying he couldn't do it. Eventually he went in. I'm hoping preschool, which starts in August, will make him less afraid and more social! He's my angel. Puppy just chilled out with his Grandma who packed us a nice picnic of sandwiches, drinks, watermelon, and cookies. After, we went back to my mom's house where AJ played with my sister's new dog, a Boston terrier named Scotty. I wish we had a big enough place for a dog.
Tuesday, June 24, 2008
Doc Visit
Today was my post partum appt. It's been 6 weeks since the baby has been born. My OB says she is going to start screening for Fragile X Syndrome. I am thrilled! Maybe another woman can be spared not knowing this is in her family.
Monday, June 23, 2008
First Evaluation
Today an occupational therapist came from our regional center to evaluate Puppy. She was very sweet and well meaning but I couldn't help but become angry when she left. I have read so much about FX now at this point and have spoken to so many people that I am kind of aware of what to expect as my son develops. She said that she didn't know much about FX, but had looked into it before coming to our house. She said that he may not have any delays and he may be just fine. I asked her how that was possible and she just said it was. Now, I know that's true for girls, but it's not true for boys.....is it? Wouldn't that be great? Anyway, she said the baby should start receiving services (probably 1 time a week) within the next couple of weeks.
Anyway, Puppy, 5 weeks old, was able to track objects and has good muscle tone. He's easy to soothe and has a nice temperament. This is what she told us.
Anyway, Puppy, 5 weeks old, was able to track objects and has good muscle tone. He's easy to soothe and has a nice temperament. This is what she told us.
Sunday, June 22, 2008
First Meeting
Some background first:
Fragile What? I had never heard of it either. Fragile X is the most common inherited cause of mental impairment. It is also the most common known cause of autism. It is second to Downs Syndrome as the leading cause of mental impairment. Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source Centers for Disease Control (CDC)). About 1 in 259 women carry fragile X and could pass it to their children as I have. About 1 in 800 men carry fragile X; their daughters will also be carriers. Many carriers also face side effects. It is carried on the X chromosome, so women who are carriers have a 50/50 chance to pass it on to their children. Men only pass it on to their daughters.
There are two mutations of the gene: premutation and full mutation. Carriers have a premutation of the gene -- like I do --where there is no mental impairment but other side effects. My son has a full mutation, which means one gene has shut down causing delay and mental impairment. Every persons X gene has a ‘repeat’ number. Normal people’s repeats are less than 55. Carriers like me, our repeats are 55-200 and once the gene mutates and repeats over 200, there is a full mutation.
We call my son Puppy because he grunts and winces like one. He's adorable. He's five weeks old and he has Fragile X Syndrome. Puppy was diagnosed at 2 weeks old and this is rare as most parents don't receive a diagnosis until their kids are older. He was diagnosed so early because I learned I was a carrier at 28 weeks pregnant. My sister, also pregnant, had an OB who screened for Fragile X Syndrome. She learned she was a carrier and told me I may be one, too. When I got screened for it, sure enough, I, too, was a carrier. I chose not to have an amnio as the baby was coming no matter what. When Puppy was born we had his blood tested. Sure enough, he was diagnosed with a full mutation. The news (still so fresh as it was only three weeks ago) is still very fresh as is the wound. We have been pretty proactive in terms of getting him some early intervention. We even have an OT coming tomorrow for an infant evaluation. I'm hopeful that with early therapies he will be able to reach his full potential.
I guess I am the most concerned about my older son. He's 3 and does not have the fragile x gene. One of the only reasons I had another child was so he could have a friend, someone to be with when my husband and I pass. I feel like this will not be the case now and that maybe I've created a burden for him. I know that Puppy's only 5 weeks old and I shouldn't even go there yet, but it's hard not to let your mind go to the darkest places. Anyway, I need to take it one day at a time.
So anyway, my husband and I went to our first support meeting today. It was so great and I met some fabulous moms. It was nice being around other parents who know what fragile x even is. Fragile what??? is what most people say when I talk about it. This is very disheartening, but it was awesome to be around other parents who have experienced what I will be going through.
Fragile What? I had never heard of it either. Fragile X is the most common inherited cause of mental impairment. It is also the most common known cause of autism. It is second to Downs Syndrome as the leading cause of mental impairment. Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source Centers for Disease Control (CDC)). About 1 in 259 women carry fragile X and could pass it to their children as I have. About 1 in 800 men carry fragile X; their daughters will also be carriers. Many carriers also face side effects. It is carried on the X chromosome, so women who are carriers have a 50/50 chance to pass it on to their children. Men only pass it on to their daughters.
There are two mutations of the gene: premutation and full mutation. Carriers have a premutation of the gene -- like I do --where there is no mental impairment but other side effects. My son has a full mutation, which means one gene has shut down causing delay and mental impairment. Every persons X gene has a ‘repeat’ number. Normal people’s repeats are less than 55. Carriers like me, our repeats are 55-200 and once the gene mutates and repeats over 200, there is a full mutation.
We call my son Puppy because he grunts and winces like one. He's adorable. He's five weeks old and he has Fragile X Syndrome. Puppy was diagnosed at 2 weeks old and this is rare as most parents don't receive a diagnosis until their kids are older. He was diagnosed so early because I learned I was a carrier at 28 weeks pregnant. My sister, also pregnant, had an OB who screened for Fragile X Syndrome. She learned she was a carrier and told me I may be one, too. When I got screened for it, sure enough, I, too, was a carrier. I chose not to have an amnio as the baby was coming no matter what. When Puppy was born we had his blood tested. Sure enough, he was diagnosed with a full mutation. The news (still so fresh as it was only three weeks ago) is still very fresh as is the wound. We have been pretty proactive in terms of getting him some early intervention. We even have an OT coming tomorrow for an infant evaluation. I'm hopeful that with early therapies he will be able to reach his full potential.
I guess I am the most concerned about my older son. He's 3 and does not have the fragile x gene. One of the only reasons I had another child was so he could have a friend, someone to be with when my husband and I pass. I feel like this will not be the case now and that maybe I've created a burden for him. I know that Puppy's only 5 weeks old and I shouldn't even go there yet, but it's hard not to let your mind go to the darkest places. Anyway, I need to take it one day at a time.
So anyway, my husband and I went to our first support meeting today. It was so great and I met some fabulous moms. It was nice being around other parents who know what fragile x even is. Fragile what??? is what most people say when I talk about it. This is very disheartening, but it was awesome to be around other parents who have experienced what I will be going through.
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