As some of you may know, Leeland was diagnosed with a genetic disorder called Nuerofibromatosis (NF1) at 6 months. At the time he presented with 1 side effect (at 6 months) he is now 3 and between the time when he was first diagnosed and now he has shown 6 new signs of NF1.
Here’s a little info on Nuerofibromatosis.
Nuerofibromatosis is caused by genetic defects that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depends on the type of nuerofibromatosis.
In this case neither my husband nor I carry the gene. And Leeland has NF1
NF1 gene is located on Chromosome 17 this gene produces a protein called nuerofibromin, that helps regulate cell growth. The mutated gene causes a loss of nuerofibromin, which allows cells to grow uncontrolled.
What is NF1? It’s a genetic disorder that causes tumors to grow on nerve tissue.
—Brain
—Spine
—Nerves
Tumors are usually benign, but can sometimes become cancerous
Signs of NF1 (* are what leeland has)
* Cafe au lait spots: (birthmarks) all over the body
*Freckiling :(small cafe au lait spots) on armpits, groin, tend to occur in clusters
Lisch Nodules: tiny bumps on the iris of the eye
*Bone deformities: abnormal bone growth and a dificiency in bone mineral density.
Soft pea sized bumps on or under the skin
Tumor in the optic nerve
*Learning disabilities
*Larger than normal head size
*Short stature(below average in height)
In August Leeland had his very first bone break (femur break) which was awful and he spent 6 weeks in a spica cast only to be 3 weeks post cast and break his tibia on the same leg. So he spent another 4 weeks in a cast knee down. This is when we learned about his bone dificency .
He is having a harder time comprehending certain things, which has led to certain delays. None the less Leeland is healthy and happy and full of energy. And we are so thankful for that, even when the future with him seems to be so scary.
There are still a lot of consultations and appointments we have coming up. Eye exam (he was 6 months at his last one). A hearing and balance exam and X-rays, CT scan and an MRI, to identify any bone abnormalities, tumors in the brain or spine and any small tumors.
If you remember please add leeland in with your daily prayers and send good vibes. Thank you!
Here’s a little info on Nuerofibromatosis.
Nuerofibromatosis is caused by genetic defects that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depends on the type of nuerofibromatosis.
In this case neither my husband nor I carry the gene. And Leeland has NF1
NF1 gene is located on Chromosome 17 this gene produces a protein called nuerofibromin, that helps regulate cell growth. The mutated gene causes a loss of nuerofibromin, which allows cells to grow uncontrolled.
What is NF1? It’s a genetic disorder that causes tumors to grow on nerve tissue.
—Brain
—Spine
—Nerves
Tumors are usually benign, but can sometimes become cancerous
Signs of NF1 (* are what leeland has)
* Cafe au lait spots: (birthmarks) all over the body
*Freckiling :(small cafe au lait spots) on armpits, groin, tend to occur in clusters
Lisch Nodules: tiny bumps on the iris of the eye
*Bone deformities: abnormal bone growth and a dificiency in bone mineral density.
Soft pea sized bumps on or under the skin
Tumor in the optic nerve
*Learning disabilities
*Larger than normal head size
*Short stature(below average in height)
In August Leeland had his very first bone break (femur break) which was awful and he spent 6 weeks in a spica cast only to be 3 weeks post cast and break his tibia on the same leg. So he spent another 4 weeks in a cast knee down. This is when we learned about his bone dificency .
He is having a harder time comprehending certain things, which has led to certain delays. None the less Leeland is healthy and happy and full of energy. And we are so thankful for that, even when the future with him seems to be so scary.
There are still a lot of consultations and appointments we have coming up. Eye exam (he was 6 months at his last one). A hearing and balance exam and X-rays, CT scan and an MRI, to identify any bone abnormalities, tumors in the brain or spine and any small tumors.
If you remember please add leeland in with your daily prayers and send good vibes. Thank you!
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