mommysbudbud
10-12-2007, 11:54 AM
Our son was 2 weeks old when the neonatologist told us that our 32 weeker had sagittal synostosis. His skull bones were overlapping along his sagittal suture. When our son was 7 weeks old, we were sent to see a plastic surgeon. He informed us that he could fix our son's head and explained the surgery. He said after the surgery our son would be fitted with a cranio helmet. Then he said he would cut our son's forehead and pull it forward. Honestly, when my husband and I walked out of the doctors office, we thought what in the heck is he talking about. Our son's forehead seemed fine to us. We then went to see a neurosurgeon and then to see a geneticist.
We had a genetics test done on our son for Crouzon Syndrome. That came back negative. The geneticist knew that our son had something so he had our son's blood tested for Pfeiffer Syndrome. Negative again. We were then told that these syndromes can be hard to detect. So his blood was sent to a different lab, came back negative again for both syndromes. We were informed that multiply cranio is ALWAYS a syndrome regardless.
In the meantime, I started to do research on Crouzon Syndrome and Pfeiffer Syndrome. My husband chose to not talk about it and felt any doctor must know what he is talking about. Wrong.
We then drove 4 hours away to meet with a craniofacial team. We saw pictures of the children that had these syndromes, before and after surgery. The team, which is made up of plastic surgeons, neurosurgeons, geneticist, and other doctors. We were amazed at their knowledge and most important...how many patients they have worked on in the past and present. They knew what they were doing. We knew that this was the team for us. Our son's coronals were fused half way up as well by 6 months old.
An example: We live in San Diego, our son's pediatrician has never heard of these syndromes. Our son had an apnea episode one morning and he was admitted into the hospital, doctors from all over came in to see him because they either had never heard of these syndromes or had read about them and had never actually seen someone with 'it'. When ever I have a syndrome related concern with my son, I take him to see his pediatrician, her only example of a syndrome is Down Syndrome so she compares my son to that. Sad. My son's syndrome is strictly cosmetic.
I know that craniosynostosis is a serious 'condition', but when dealing with a child with a craniofacial syndrome...it is a whole different ball game. I wish my son only had sagittal synostosis. I wish he would only need one or maybe 2 surgeries and life goes on. But it won't happen that way....it is not that simple. With every child with these syndromes, their is always something different. My son has a mild form of his syndrome. So when I read online and spoke to other families about their children, I thought well my son doesn't have that characteristic so he must not have a syndrome. At the end of the day, he still has a syndrome.
With these syndromes, at some point the mutated chromosome 'triggers' and while the face continues to grow, the midface stops. Like it or not, he will need several surgeries. No one can put a number on it. No one knows for sure. He had the surgery for a CVR, forehead advancement, and orbital advancement at 6 months of age. That was 19 months ago and his eyes have become a little prominent again. So he will probably need another orbital advancement again. The concern that his soft spots closing too soon or not closing is very real. Hydrocephalus is not uncommon in these children as well as sleep apnea.
Educate yourself, do the research...join support groups that have first hand experience in these syndromes. Find a good craniofacial team, not just a craniofacial team.
Their are a lot of resources out there. I am here to help. Ask me anything, if I don't know the answer then I will point you in the right direction.
Best wishes to anyone who is beginning their journey down this path. You are not alone.
Dawn
We had a genetics test done on our son for Crouzon Syndrome. That came back negative. The geneticist knew that our son had something so he had our son's blood tested for Pfeiffer Syndrome. Negative again. We were then told that these syndromes can be hard to detect. So his blood was sent to a different lab, came back negative again for both syndromes. We were informed that multiply cranio is ALWAYS a syndrome regardless.
In the meantime, I started to do research on Crouzon Syndrome and Pfeiffer Syndrome. My husband chose to not talk about it and felt any doctor must know what he is talking about. Wrong.
We then drove 4 hours away to meet with a craniofacial team. We saw pictures of the children that had these syndromes, before and after surgery. The team, which is made up of plastic surgeons, neurosurgeons, geneticist, and other doctors. We were amazed at their knowledge and most important...how many patients they have worked on in the past and present. They knew what they were doing. We knew that this was the team for us. Our son's coronals were fused half way up as well by 6 months old.
An example: We live in San Diego, our son's pediatrician has never heard of these syndromes. Our son had an apnea episode one morning and he was admitted into the hospital, doctors from all over came in to see him because they either had never heard of these syndromes or had read about them and had never actually seen someone with 'it'. When ever I have a syndrome related concern with my son, I take him to see his pediatrician, her only example of a syndrome is Down Syndrome so she compares my son to that. Sad. My son's syndrome is strictly cosmetic.
I know that craniosynostosis is a serious 'condition', but when dealing with a child with a craniofacial syndrome...it is a whole different ball game. I wish my son only had sagittal synostosis. I wish he would only need one or maybe 2 surgeries and life goes on. But it won't happen that way....it is not that simple. With every child with these syndromes, their is always something different. My son has a mild form of his syndrome. So when I read online and spoke to other families about their children, I thought well my son doesn't have that characteristic so he must not have a syndrome. At the end of the day, he still has a syndrome.
With these syndromes, at some point the mutated chromosome 'triggers' and while the face continues to grow, the midface stops. Like it or not, he will need several surgeries. No one can put a number on it. No one knows for sure. He had the surgery for a CVR, forehead advancement, and orbital advancement at 6 months of age. That was 19 months ago and his eyes have become a little prominent again. So he will probably need another orbital advancement again. The concern that his soft spots closing too soon or not closing is very real. Hydrocephalus is not uncommon in these children as well as sleep apnea.
Educate yourself, do the research...join support groups that have first hand experience in these syndromes. Find a good craniofacial team, not just a craniofacial team.
Their are a lot of resources out there. I am here to help. Ask me anything, if I don't know the answer then I will point you in the right direction.
Best wishes to anyone who is beginning their journey down this path. You are not alone.
Dawn