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Rare Disease Changes Princes Risborough Boys Life

nf2

Published by the Mix96 News Team at 8:39am 6th August 2016. (Updated at 10:04am 6th August 2016)

A family from Princes Risborough has been campaigning for more awareness for the rare disease that affects them.

 

Samuel Pomfret has NF1 -  Neurofibromatosis Type 1 (NF1) - a disease that affects 1 in 2500 and usually appears in childhood.

Signs are often evident at birth or shortly afterward, and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.

Signs and symptoms include:

  • Flat, light brown spots on the skin (cafe au lait spots). These harmless spots are common in many people. Having more than six cafe au lait spots is a strong indication of NF1. They are usually present at birth or appear during the first years of life and then stabilize.
  • Freckling in the armpits or groin area. Freckling usually appears by ages 3 to 5. Freckles are smaller than cafe au lait spots and tend to occur in clusters in skin folds.
  • Tiny bumps on the iris of your eye (Lisch nodules). These harmless nodules can't easily be seen and don't affect your vision.
  • Soft bumps on or under the skin (neurofibromas). These benign tumors usually develop in or under the skin, but can also grow inside of the body. Sometimes, a growth will involve multiple nerves (plexiform neurofibroma).
  • Bone deformities. Abnormal bone growth and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or bowed lower leg.
  • Tumor on the optic nerve (optic glioma). These tumors usually appear by age 3, rarely in late childhood and adolescence, and almost never in adults.
  • Learning disabilities. Impaired thinking skills are common in children with NF1, but are usually mild. Often there is a specific learning disability, such as problem with reading or mathematics. Attention-deficit/hyperactivity disorder (ADHD) is also common.
  • Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume.
  • Short stature. Children with NF1 often are below average in height.
Sam was diagnosed at 18 months and since then his family has been raising awareness and funds.

 

Image: Kensie and Sam
sAM NF1

 

His father Martin is a trustee for Childhood Tumour Trust; and together they recently sent Sam and 8 others to a camp in America where:
"They can bond and help them to be treated the same as any other child.
 
"Sam and the other teens were given the opportunity to go to Utah but had to try and get sponsorship to go towards the trip to America and thankfully due to the generosity from Rotary International, Aylesbury lions & local fundraising such as car boots and my eldest son Luc and his band 'The Unknown' putting on a concert to help fund the charity also we were able to help these teens have a trip of their lifetime. "
nf1
There are also UK based camps.

 

Childhood Tumour Trust is a relatively new charity, and they are determined to help parents with NF1 children. The Trust is already raising funds to start research into the disease and get the best specialists on board.

 

  

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