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MUM-OF-FOUR Rachael Reynolds spends each morning getting her children ready for the day ahead, but her severe skin condition leaves her brimming with anxiety each time she leaves the house to do the school run. Rachael, 41, from Huddersfield, has neurofibromatosis type 1 (NF1), a genetic disorder which leaves her with large bubble-like lesions all over her face, neck, arms, back, tummy and legs. The stay-at-home mum, who inherited the condition from her father, is regularly subjected to cruel taunts on the street as a result of her condition. However, Rachael is determined not to let neurofibromatosis beat her, and has set up a Facebook group, Neurofibromatosis Our World, to enable patients and their families to connect and talk about the condition, and to challenge the stigma faced by sufferers.
May is World Neurofibromatosis Awareness Month! For more information and support on neurofibromatosis visit the Neuro Foundation’s website: http://www.nfauk.org
People with neurofibromatosis or supporting someone with the condition can join Rachael’s group, Neurofibromatosis Our World, by visiting: http://www.facebook.com/groups/278519335835327/
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The HiHo kids met 15-year-old Philip, a geocacher from Alabama, Life Scout, and gamer who is living with Neurofibromatosis Type 1 (NF1), a rare genetic condition that can cause tumors to grow along the nerves within the body. Philip and the HiHo kids discuss NF1, its impact on his day-to-day life and how he raises awareness within the community. To learn more about NF1, including common signs and steps you can take if you or your loved one is experiencing NF1 symptoms please go to NF1andPNinfo.com.
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Kids Meet a Teen with a Rare Genetic Condition (NF1) | Hiho
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Neurofibromatosis type 1 (NF1) is a genetic condition characterized primarily by changes in skin color and the growth of benign (non-cancerous) tumors along the nerves of the skin, brain, and other parts of the body. The severity and specific features can vary greatly from person to person. .
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neurofibromatosis (NF) refers to two distinct genetic disorders, NF 1 affects the Peripheral nervous system, and NF 2 affects the Central nervous system. in both cases tumor develops. contains details of schwannomin or Merlin Protein, p53 protein, and GTPase activating domain
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⚡ Chapters:
0:00 What is Neurofibromatosis
0:12 Neurofibromatosis Type 1 (NF 1)
0:29 Neurofibromin
1:08 How Neurofibromatosis 1 (NF 1) is caused
3:18 Neurofibromatosis Type 2
3:30 Merlin or Schwannomin Protein
3:41 How Neurofibromatosis 2 (NF 2) is caused
#biotechreview #Neurofibromatosis #geneticdisorders
