I mitt eget paradis

So. We was at the hospital today and got the results from the MR and the ultrasounds. Baby E is fine. He got something called Neurofibromatosis. Or so they think. We have to go back in three month to do a checkup. At the same time the doctors want to take some blood sample from me to see if they can see which kromosome that is mutated, I have this diagnosis aswell. I have never had any problems with it in my life so I'm happy that Baby E is fine, a stone has fallen from my heart.

Neurofibromatosis

Neurofibromatosis (commonly abbreviated NF) is a genetically-inherited disorder in which the nerve tissue grows tumors (i.e., neurofibromas) that may be harmless or may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes, endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body forming tumors and the melanocytes function abnormally resulting in disordered skin pigmentation. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.^[1]

Neurofibromatosis is autosomal dominant, which means that it affects males and females equally and is dominant (only one copy of the affected gene is needed to get the disorder). Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity in affected individuals, however, can vary (this is called variable expressivity). Moreover, in around half of cases there is no other affected family member because a new mutation has occurred.