We have had a lot of people ask us questions about Camden's dwarfism and I realize that many people have questions they want to ask, but just don't know how. I thought I would write this post to answer some of the most frequent questions we've gotten. Please know that we welcome any questions that you have, so please don't be afraid to ask. Besides we really love talking about Camden:)
*I got all of the statistics from the LPA website
What is achondroplasia?
Achondroplasia is a skeletal disorder that causes dwarfism. Camden's body does not convert cartilage into bone as efficiently and as quickly as a person of average height. Because of this, his bones (especially the long bones in his arms and legs) will be shorter than normal. Achondroplasia is the most common type of dwarfism and it occurs in 1: 26,000-40,000 births.
Is it an inherited condition?
In Camden's case it is not inherited. More than 80% of all babies born with achon come from average size parents with no family history of the condition. Camden's achon was caused by a random gene mutation at conception. He has one normal gene and one abnormal gene. He has a 50% chance of passing it on to his children.
How tall will Cam be?
We have no idea exactly how tall he will be but the average height for an adult male with achon is about 4 feet.
What can be done to treat it?
This question has been hard for me to answer because I don't view achondroplasia as a disease that needs to be treated, but instead as a condition that needs to be managed. There is no way to "fix" Cam's condition. There has been a lot of research done about growth hormone therapy, but it hasn't proven to be very effective. There are also limb-lengthening treatments and surgeries that are incredibly expensive and painful. It doesn't make sense to us to put Cam through those types of things to try to "correct" his dwarfism. We don't want him to grow up thinking that there is something wrong with him, and to me, that is what those treatments would do. He is going to be little so we don't think it's fair to put Cam through those things just to gain a few inches. We want him to be proud of who he is.
On the other hand, there are things we need to monitor closely to make sure he is safe and healthy. For example, he will have to have regular CT scans to monitor the opening at the base of his skull. In average height people, this opening is round, but in people with achon, the hole is misshapen so there is a possibility of his spine being "pinched" or cerebral-spinal fluid not passing efficiently. Cam had a CT scan a few months ago when we went to see the neurosurgeon and everything looked great. Also, kids with achon are prone to ear infections because they have shorter ear canals/nasal passages so he may have to have tubes put in eventually. He's never had an ear infection, so this may not be a problem for us. He may also end up needing physical therapy depending on his development.
Will your future kids have a chance of being born with dwarfism?
Most likely, they won't be. Since Cam's dwarfism was random, there is very little possibility of it happening again.
I think the main thing that Patrick and I want everyone to know is that Cam is a totally normal kid that just happens to be small. Achondroplasia is not a mental disability and is not a handicap. He will grow up to be anything he wants to be. He will be able to go to college, get married, have kids of his own--whatever he wants to achieve, he can. He may just need a stool every once in a while to reach things:)
Wednesday, December 30, 2009
Thursday, December 17, 2009
Our Story
We found out we were pregnant with Camden in June of 2008 when we were visiting Patrick's family in Michigan. We had a miscarriage a month before and were excited to find out that we were pregnant again. I took about a million pregnancy tests just to be sure it was true. Seeing that pink plus sign over and over again was one of the best feelings in the world. I was blessed with a really easy pregnancy until our anatomy ultrasound at 20 weeks. The ultrasound tech saw a white "spot" on Camden's heart that was abnormal. We went to a perinatologist for a more comprehensive ultrasound and he determined that the spot was an area of calcification on his heart that wasn't anything to worry about. We were so relieved.
Fast forward 20 weeks and 2 days and our brand new baby boy arrived. After about 14 hours of labor, a failed epidural, a new epidural, 2 hours of pushing, and a c-section later, Camden was finally in our arms. Everything about him was perfect. All 8 pounds and 21 inches of him. Patrick was the proudest daddy in the world, and I turned into mush when I met my sweet guy.
He grew like a weed and by the time his first month check-up rolled around, he had gained 5 (!!) pounds and grown almost an inch. At check-up after check-up, Camden grew and grew and grew. Then we went in for his 6 month appointment and everything changed. All of a sudden his head circumference jumped to the 95th percentile and his height and weight dropped to below the 25th. His doctor was worried that there was fluid around his brain that had caused the discrepancy so she sent us for a cranial ultrasound a few days later. She also mentioned the possibility of surgery to correct it and Patrick and I were terrified.
They performed an ultrasound through the soft spot on Cam's head to look for any fluid that could have built up. We breathed a sigh of relief when Cam's doctor called a few days later to tell us there wasn't any fluid detected. She went on to tell us that she wanted us to go have a consultation with a neurosurgeon to rule out anything else that could be going on. So we freaked out again.
The neurosurgeon examined Camden and told us that he didn't think there was anything that he was really worried about but that he still wanted Camden to have a CT scan just to be sure.
We went to the hospital later that week and Camden had the CT scan...
...that came back normal.
So we celebrated. But we still knew there was something we were missing.
I took Cam to his 9 month appointment and this time, his height fell to the 10th percentile and his head circumference was almost off the charts. His doctor suggested doing a battery of blood tests to see if there was an issue with his thyroid, or if he was anemic, or if there was any other clue to what was going on.
After more normal test results, we were relieved but still knew there was something else. Cam's doctor called me at 6 pm on a Friday night, an hour after their office closed, and told me she had been pouring over his charts trying to come up with an answer. She told me that she wanted us to meet with a genetics specialist to rule out another possibility. I asked her what that possibility was and when she said "achondroplasia," my heart jumped. As soon as she said that word, so many things made sense. I called Patrick and told him and his immediate reaction was that our doctor was crazy.
Then it sank in and we started researching it. The more we learned about it, the more we felt like we were closer to finding an answer for our sweet boy. Camden's doctor called the geneticist personally and got us an appointment for the next week. The genetics department had a 6-7 month waiting period for appointments so we were both relieved and nervous about getting an appointment so quickly.
December 15th came and Patrick and I took Camden to Levine Childrens' Hospital to meet with the genetics specialist. After a meeting with a genetic counselor, Dr. Spence came in to meet Camden. He took some measurements, looked at Cam's hands, did a few other tests, and told us that he believed our son has Achondroplasia.
It sounds weird, but as soon as he said it, Patrick and I were relieved. All of this guessing and testing and wondering was over and we finally knew the answer. Camden is healthy, happy, and has a life full of possibilities ahead of him, and that put Patrick and I at peace. It isn't a disease. It isn't something that he needs to be operated on or medicated for. It's just him.
We are so lucky to be Camden's parents. We are humbled that God entrusted with such an amazing child and we are so excited start this new chapter in our life.
Fast forward 20 weeks and 2 days and our brand new baby boy arrived. After about 14 hours of labor, a failed epidural, a new epidural, 2 hours of pushing, and a c-section later, Camden was finally in our arms. Everything about him was perfect. All 8 pounds and 21 inches of him. Patrick was the proudest daddy in the world, and I turned into mush when I met my sweet guy.
He grew like a weed and by the time his first month check-up rolled around, he had gained 5 (!!) pounds and grown almost an inch. At check-up after check-up, Camden grew and grew and grew. Then we went in for his 6 month appointment and everything changed. All of a sudden his head circumference jumped to the 95th percentile and his height and weight dropped to below the 25th. His doctor was worried that there was fluid around his brain that had caused the discrepancy so she sent us for a cranial ultrasound a few days later. She also mentioned the possibility of surgery to correct it and Patrick and I were terrified.
They performed an ultrasound through the soft spot on Cam's head to look for any fluid that could have built up. We breathed a sigh of relief when Cam's doctor called a few days later to tell us there wasn't any fluid detected. She went on to tell us that she wanted us to go have a consultation with a neurosurgeon to rule out anything else that could be going on. So we freaked out again.
The neurosurgeon examined Camden and told us that he didn't think there was anything that he was really worried about but that he still wanted Camden to have a CT scan just to be sure.
We went to the hospital later that week and Camden had the CT scan...
...that came back normal.
So we celebrated. But we still knew there was something we were missing.
I took Cam to his 9 month appointment and this time, his height fell to the 10th percentile and his head circumference was almost off the charts. His doctor suggested doing a battery of blood tests to see if there was an issue with his thyroid, or if he was anemic, or if there was any other clue to what was going on.
After more normal test results, we were relieved but still knew there was something else. Cam's doctor called me at 6 pm on a Friday night, an hour after their office closed, and told me she had been pouring over his charts trying to come up with an answer. She told me that she wanted us to meet with a genetics specialist to rule out another possibility. I asked her what that possibility was and when she said "achondroplasia," my heart jumped. As soon as she said that word, so many things made sense. I called Patrick and told him and his immediate reaction was that our doctor was crazy.
Then it sank in and we started researching it. The more we learned about it, the more we felt like we were closer to finding an answer for our sweet boy. Camden's doctor called the geneticist personally and got us an appointment for the next week. The genetics department had a 6-7 month waiting period for appointments so we were both relieved and nervous about getting an appointment so quickly.
December 15th came and Patrick and I took Camden to Levine Childrens' Hospital to meet with the genetics specialist. After a meeting with a genetic counselor, Dr. Spence came in to meet Camden. He took some measurements, looked at Cam's hands, did a few other tests, and told us that he believed our son has Achondroplasia.
It sounds weird, but as soon as he said it, Patrick and I were relieved. All of this guessing and testing and wondering was over and we finally knew the answer. Camden is healthy, happy, and has a life full of possibilities ahead of him, and that put Patrick and I at peace. It isn't a disease. It isn't something that he needs to be operated on or medicated for. It's just him.
We are so lucky to be Camden's parents. We are humbled that God entrusted with such an amazing child and we are so excited start this new chapter in our life.
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