Friday, February 29, 2008
Friday, February 15, 2008
Friday, February 08, 2008
Neurofibromatosis. NF1.
On January 8th, Ethan was diagnosed with Neurofibromatosis. There are three types of NF. Ethan has type 1, NF1.
Maybe someday when I have more time, I'll go into more detail about what he (and we) have been through to get to this point. For now, I'll just post the short version. I guess I'm just putting this out here to raise awareness. I had never heard of NF until Ethan's doctor suspected it even though it is more common than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease and Tay Sachs combined.
He started showing signs of NF1 when he was about 8 weeks old. His pediatrician at the time didn't seem concerned, so we thought everything was fine. Then at his one year check up, his doctor referred us to a Pediatric Neurologist and said he just wanted to rule out NF1.
Here is a full description of NF1.
And this is taken from that page:
How Do I Know I Have NF?
Only a knowledgeable physician can answer that question. In the language of experts, the tentative diagnostic criteria for NF1 are: NF1, formerly known as Von Recklinghausen neurofibromatosis is present in an individual with two of the following criteria, provided that no other disease accounts for the findings.
1. Family history of NF1
2. 6 or more light brown ("cafe-au-lait") spots on the skin
3. Presence of pea-sized bumps (neurofibromas) on the skin
4. Larger areas on the skin that look swollen (plexiform neurofibromas)
5. Freckling under the arms or in the groin area
6. Pigmented bumps on the eye's iris (Lisch nodules)
7. Skeletal abnormalities such as tibial dysplasia (bowing of the legs), or thinning of the shin bone
8. Tumor on the optic nerve that may interfere with vision
We have no family history of NF1, so Ethan's is a spontaneous case.
He started out with the cafe au lait spots (CALS). The second image down in this post shows some of his CALS. It seemed that I would find new ones every day. He's still getting them and they're every where from his face and neck down to his ankles. Ethan also has a large head. Large head circumference can go along with NF1, but is not a diagnosing criteria. This year the neurologist noticed the freckling under his arms. That was the second criteria used to officially diagnose.
Roughly one-half of children with NF1 have some sort of learning disability and Ethan falls into that half. He is currently undergoing speech therapy, physical therapy, has a special education teacher, and will be starting occupational therapy soon. We're looking into music therapy for him as well. He's doing really well with all of it and it keeps us very busy.
At this point, it seems that his case is fairly mild. Most cases are mild, but there can be some pretty serious complications. We're praying that his case stays mild. It's a wait-and-see type of disorder and Ethan is currently seeing various specialists once a year and having blood work done every six months. He had an MRI of his brain in 2005 and will likely have another done next year. Through it all, he is just the happiest kid ever. The best little patient even when he's having his blood taken. He knows he'll get lots of hugs and a sticker and that's the best medicine for him. :)
Maybe someday when I have more time, I'll go into more detail about what he (and we) have been through to get to this point. For now, I'll just post the short version. I guess I'm just putting this out here to raise awareness. I had never heard of NF until Ethan's doctor suspected it even though it is more common than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease and Tay Sachs combined.
He started showing signs of NF1 when he was about 8 weeks old. His pediatrician at the time didn't seem concerned, so we thought everything was fine. Then at his one year check up, his doctor referred us to a Pediatric Neurologist and said he just wanted to rule out NF1.
Here is a full description of NF1.
And this is taken from that page:
How Do I Know I Have NF?
Only a knowledgeable physician can answer that question. In the language of experts, the tentative diagnostic criteria for NF1 are: NF1, formerly known as Von Recklinghausen neurofibromatosis is present in an individual with two of the following criteria, provided that no other disease accounts for the findings.
1. Family history of NF1
2. 6 or more light brown ("cafe-au-lait") spots on the skin
3. Presence of pea-sized bumps (neurofibromas) on the skin
4. Larger areas on the skin that look swollen (plexiform neurofibromas)
5. Freckling under the arms or in the groin area
6. Pigmented bumps on the eye's iris (Lisch nodules)
7. Skeletal abnormalities such as tibial dysplasia (bowing of the legs), or thinning of the shin bone
8. Tumor on the optic nerve that may interfere with vision
We have no family history of NF1, so Ethan's is a spontaneous case.
He started out with the cafe au lait spots (CALS). The second image down in this post shows some of his CALS. It seemed that I would find new ones every day. He's still getting them and they're every where from his face and neck down to his ankles. Ethan also has a large head. Large head circumference can go along with NF1, but is not a diagnosing criteria. This year the neurologist noticed the freckling under his arms. That was the second criteria used to officially diagnose.
Roughly one-half of children with NF1 have some sort of learning disability and Ethan falls into that half. He is currently undergoing speech therapy, physical therapy, has a special education teacher, and will be starting occupational therapy soon. We're looking into music therapy for him as well. He's doing really well with all of it and it keeps us very busy.
At this point, it seems that his case is fairly mild. Most cases are mild, but there can be some pretty serious complications. We're praying that his case stays mild. It's a wait-and-see type of disorder and Ethan is currently seeing various specialists once a year and having blood work done every six months. He had an MRI of his brain in 2005 and will likely have another done next year. Through it all, he is just the happiest kid ever. The best little patient even when he's having his blood taken. He knows he'll get lots of hugs and a sticker and that's the best medicine for him. :)
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