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

 

 

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.

Stories Of The Week

My family My family

Xander's Journey finding a cure

Yohanna, SLC6A1, United States, March 1, 2021

My name is Yohanna. I have a 3-year-old name, Xander. He was born healthy, and everything was great until he reached six months. I noticed he was not getting his milestones, and of course, I was conce...

Mia Mia

Mia

Maja, 1p36 deletion syndrome, Croatia, February 28, 2021

My daughter Mia was born with congenital cytomegalovirus infection and from birt we new she will face a lot of obstacles in her life. We were told she will never walk, talk etc. But she was little war...

SuperBouli SuperBouli

Story of SuperBouli

BOULI, Sandhoff disease, infantile form, Lebanon, February 27, 2021

SuperBouli for rare disease day 2021Read my story or watch the video to know why I am superRarehttps://youtu.be/Rw4hV_sk6VQHello!!! I am Bouli, and this year, on the 28th of February, the rare disease...

Photography credit: Oumayma B. Tanfous Photography credit: Oumayma B. Tanfous

Keep on Smiling

Maria, Beta-thalassemia, United States, February 25, 2021

Keep On Smiling“Keep on smiling” the young doctor said to me at an impressionable age of ten. Those words, at that time, influenced the rest of my life. I was born with a rare disease, Beta Thalassemi...

On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling. On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling.

"Juvenile ALS" occurs in less than 1 out of 1 million people

Bibi, Amyotrophic lateral sclerosis, Austria, February 24, 2021

Hi, I’m Bibi, 32 years old, from Austria (Europe) and was diagnosed with ALS (Amyotrophic Lateral Sclerosis) at the age of 18.My first symptoms started to show in 2005 when I was 16 years old. I notic...

Hagamos visible las enfermedades raras... Hagamos visible las enfermedades raras...

Nahiara... el amor en persona

Claudia, Williams syndrome, Argentina, February 24, 2021

Mi nombre es Claudia, mamá de Nahiara,  ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...

Palden and Mom Palden and Mom

The Glimpse into Palden's Journey as the First SMA Patient of Bhutan

Ugyen, Spinal muscular atrophy with respiratory distress type 2, Bhutan, February 22, 2021

Palden is a 12 year old girl from Bhutan. She was diagnosed with Spinal Muscular Atrophy (SMA), Type II, at the age of 9 months, as the first case and one of the only two diagnosed in the country. SMA...

X

Share your story




(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.