What is Neurofibromatosis type 1?

By Clare, Neurofibromatosis type 1, United Kingdom, February 23, 2021

Hi I am mum to Darcie who is 5. Darcie was diagnosed with JXG and NF1 at approx 3 months of age.

Juvenile xanthogranuloma is a rare usually benign condition that causes lumps on the skin due to excess cell histiocytes.  They can often grow on the eyes and in the ears causing problems and can increase risk of having leukaemia and neurofibromatosis.

We had regular eye check ups and thankfully Darcie JXGs gradually regressed just leaving some scarring. 


Darcie had genetic testing and this resulted in confirmed neurofibromatosis type 1 this was picked up through multiple cafe au laits on her body. 

We have regular eye check ups, milestone development checks and dermatology as NF1 is a condition which causes tumors to grow along the nerves. It affects 1 in 3000 people around the world. 

About 50 percent of people with NF1 have additional learning challenges, softening and curvature of the spine.

Occasionally tumors can grow on the cranial nerves in the brain or spinal cord.

Plexiforms can develop on larger nerves deep in the body which can cause pain weakness bleeding or bladder and bowel changes.

ADHD can affect around half of children with NF1 and NF1 has also been linked with ASD. 

Around 15% of children with NF1 will develop tumors on the eyes. Children under 7 have the highest risk of this.

Many people with NF1 get migraines and pain in their body. 

There is currently no treatment for NF1 and it presents itself differently in each case. 

Comprehensive montioring is the only way to look out for any changes in a person whilst they develop.

Cafe au laits birthmarks on a child is the first way to spot NF1 and this can be done through health visitor checks Dr checks and checking your child's body. 

Darcie lives a full happy life as another child and we're grateful that her JXG spots have regressed.  She takes a regular histamine as struggles with itchy skin and the nerves stimulated. 

Regular check ups and appointments are key to montioring her condition and more awareness. 

I had never heard of either JXG or NF1 before my daughter was diagnosed. 

When I first searched the Internet I was horrified at what I found and worried sick of what would happen but we have been lucky and just concentrate on the now and will deal with anything the best we can should it arise.  


*Find others with Neurofibromatosis type 1 on RareConnect, the online platform for people affected by rare diseases



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