Monday, November 24, 2014

Learning Disabilities Associated with NF

Due to popular demand, here is a post about learning disabilities and Neurofibromatosis!

Neurofibromatosis is one of the most common genetic disorders affecting the nervous system. It's major manifestations are physical, but as many as 60% of individuals living with this condition have a learning disability. I am referring to children throughout the post, but these disabilities also impact adults.

Learning disabilities range in type and severity among children with NF. It is estimated that 40-60% of children with NF have ADD (Attention Deficit Disorder) or ADHD (Attention Deficit Hyperactive Disorder). Although the cause is not certain, it is thought that ADD/ADHD originates from structural and functional problems in the brain, which affects how certain parts of the brain are connected to one another. Research also hypothesizes that children who have a low birth weight are prone to developing ADHD, as well as individuals who have brain damage to the temporal lobe (the lobe on the "side" of your brain). Certain parts of the brain are smaller in children who have ADHD, and the neurons in their brains that are supposed to transmit information seem to fire at a much faster rate, than in people without ADHD. There also seems to be a deficiency in the neurotransmitter dopamine, which plays a role in behaviour, cognition, and attention. According to the NF Network, children who have ADD or ADHD tend to have behavioral issues such as restlessness, impulsivity, and are easily distracted. Typically, it manifests itself around the age of 12 years, but it is not uncommon for people to be diagnosed during adulthood.

There are a variety of learning problems that can be seen in children with Neurofibromatosis. Some of these children tend to have more difficulties with math and numbers, while others struggle with things like reading, comprehension and problem solving. Specific learning problems that can be seen include:

1. Mathematic Difficulties
  • Found in 60% of people living with NF 
  • People with NF can have difficulties remembering basic numerical facts
  • A lot of people may require continual concrete aids such as counting on their fingers
  • A lot of people with NF are impulsive, and may misread math equations or signs 
  • Individuals who have difficulties with reading may also struggle with math, as math tends to have its own "language"
2.  Language Difficulties 
  • Individuals can have difficulties expressing themselves 
  • Individuals who have difficulties with language often have problems with attention span
  • Research has shown that children with NF can have difficulties with language in the following areas: 
a) Receptive language -- the ability to process the written and/or spoken language. Individuals who struggle with receptive language have difficulties with:
  • Following directions and instructions
  • Discriminating between sounds 
  • Understanding the meaning and content of speech 
b) Expressive language -- the ability to express meaning via writing and/or speaking 

3. Reading Difficulties 
  • Dyslexia is common in children with NF ( We pegin our qrib eq a faziliar blace, a pogy like yours enq zine. Iq conqains a hunqraq grillion calls qheq work qogaqhys py gasig... Can you read that? Click this link for a translation... this is how children with dyslexia can see words on a page    ( )
  • People with NF often struggle with sounding out words, which is known as phonological dyslexia. Also, individuals who have phonological dyslexia also have difficulties spelling words

That's all I have for you guys this week, thanks for reading and I hope you have learned something new!!!


Information was gathered from:  

Monday, November 17, 2014

Rare and Unique NF Complications

Thanks to everyone who participated in my pre-post discussion! For those of you who want to participate in conversations about Neurofibromatosis, like the "MBNF, Manitoba Neurofibromatosis Support Group" on Facebook!

It really wasn't until I decided to write this blog post that I realized that I didn't like the word "rare". I mean in some cases its great, like "Hey I have a rare coin from the 1800's that's worth a lot of money", then sure, rare is a great word to use! But when it comes to medicine and complications from different illnesses, "rare" isn't such a great word. To me, it almost alienates people. It puts a label on them and makes them appear different from everyone else. I mean, a lot of people already struggle with being "different" because of their diagnosis of Neurofibromatosis, so why further alienate them from normalcy? Why place an unneeded label on someone who is just trying to find a place to fit in? So throughout this post you will see me use the word "unique" instead of rare, and maybe we can start changing some of our language!

Like all other illnesses, Neurofibromatosis has a set of  unique complications. My Mom and I always used to laugh at how I was the exception to every rule, and how majority of the complications I have are unique, which at times can be very frustrating. So here, I'm going to explore some of these complications with you! Keep in mind that these occur in less than 1% of people living with NF:

1. Early or Late Onset Puberty -- there really is no known cause for this complication at this point in time. Typically changes in hormones such as in puberty and in menopause can cause either changes in your current tumors, or cause new tumors to develop. Therefore, current research indicates that the growth of neurofibromas could be due to hormonal changes and imbalances.
In terms of my own health, I had to deal with extremely late onset of puberty. While everyone was going through puberty between the ages of 10-16,  I didn't hit that stage until I was almost 18 years old, which actually was a very stressful process for me.

2. Epilepsy -- generally, epilepsy in Neurofibromatosis occurs secondary to a brain tumor. Epilepsy seems to be able to be well controlled with medication, and usually  people with NF have a mild cases. Statistically speaking, partial onset seizures (seizures that impact only one hemisphere of the brain) are the most common type of seizure seen in NF patients.   

3. Malignant Peripheral Nerve Sheath Tumors -- these tumors arise from the peripheral nerves or from cells associated with the nerve sheath (such as Schwann cells and fibroblasts). The cause of this kind of tumor is unknown. These tumors are cancerous, and often require treatments such as radiation and chemotherapy.

4. Brain Tumors (other than optic glioma)-- one of the trademark symptoms of Neurofibromatosis are tumors of the optic nerves (optic gliomas). In some cases, optic gliomas can cause involuntary eyeball movement, and sometimes blindness. It is generally recommended that children are observed yearly by an ophthalmologist who performs tests that can screen for these types of tumors. Any other kind of tumor in the brain is unique!
When I was 13 years old,  I was diagnosed with a benign astrocytoma of the hypothalmic/pituitary region. Astrocytomas are tumors that arise from astrocytes, which are star-shaped cells that make up the "glue-like" supportive tissue of the brain. The hypothamic/pituiary region of the brain, is located right in the middle of the brain (think of a pit in a peach, that is where the tumor is), thereby making the tumor inoperable. Thankfully, my tumor hasn't grown in over 7 years!

5. Severe Mental Retardation -- this is one of the most severe behavioural and cognitive abnormality seen in Neurofibromatosis. Although it is common for individuals with NF to have learning disabilities, it is very uncommon that they are seriously impacted. This is usually evident in the first few years of a child's life.

6. Hormonal Complications -- hormonal conditions related to NF are typically a complication of a brain tumor, but research has also showed that individuals born with NF who do not have brain tumors brain tumors can still suffer from a variety of different hormonal conditions. This is something that is still being researched...
I was diagnosed with hypopituitarism in 2010, which funny enough is extremely uncommon worldwide (not just in NF). Basically, this  means my body doesn't make nearly enough hormones. The hormones that have been impacted the most since my diagnosis are:  growth hormone, cortisol, estrogen, progesterone, and prolactin.

7. Problems with Growth (too short or too tall) -- once again, there is no definitive cause for problems with growth in individuals living with Neurofibromatosis. Sometimes, the brain makes too much growth hormone, which results in a child being overly tall, and it can also lead to the brain not making enough, thus resulting in an abnormally short stature. If caught in time, children who are growth hormone deficient can be given growth hormone injections to stimulate their growth, while children who make too much of this hormone typically have to undergo surgery.
Along with the hypopituitarism, I was diagnosed with growth hormone deficiency in 2010. However, since my growth plates had shut a year or so before the diagnosis, I was not a candidate to receive growth hormone injections to stimulate growth.

8. Stroke -- in Neurofibromatosis, stroke is most often caused by blockages in the blood vessels going to the brain, leading to a reduction or complete blockage of blood to the brain.

Well, I hope everyone has a wonderful week! Thanks for tuning in!


Resources Used: 

Monday, November 10, 2014

NF Awareness in Canada

Imagine walking into a doctors office with a common cold, but nobody has heard of it before. Or imagine going to your doctor with a suspicious looking mole, and having him tell you that he has never treated a patient with a mole before. Imagine having a trained medical professional, who is "supposed to know everything" look at you and say you're fine when you're clearly not. This is what many individuals living with Neurofibromatosis face on a regular basis. I'm sure many of you who live in Canada know how incredibly difficult it is to find a doctor who is well educated on Neurofibromatosis...almost impossible. One thing that always baffles me is how could there be so little knowledge revolving around a genetic disorder that has a prevalence rate of 1 in 3000!

I have been extremely lucky over the past 9 years to have had absolutely wonderful doctors taking care of me, and I attribute much of their work to where I am today. I have been cared for from specialists such as pediatric neurosurgeons to pediatric endocrinologists, orthopedic surgeons and pretty much everything in between. Although I have had stellar care, most of these specialists had either never heard of my condition or had never treated someone with it before in their practice.

I clearly remember the first time I saw a neurosurgeon at the Stollery Children's Hospital. When my neurosurgeon walked through the door the first time, I had an eerily calm feeling sweep over me, as I knew I was in capable hands. It wasn't until the middle of the appointment that I asked him "so, how many other patient's do you have with Neurofibromatosis?" thinking he would say he maybe had a dozen or so. He looked at me, frowned and said "You're the only one. I've never treated anyone with that condition before". I could feel my heart starting to beat a little faster as anxiety began to set in. Certainly this was all new to me, and I was slightly horrified to find out that this would be new to him as well. I kept asking myself where all of these other patients were hiding, because I knew they were out there somewhere!

This trend continued with majority of the other doctor's and specialists I saw over the years. Out of the THIRTY FOUR I've seen since I was born, I think it would be safe to say that maybe 8 have cared for someone with NF before, and majority of those 8 were doctors were at the Mayo Clinic in the USA. I was even asked what Neurofibromatosis was once...seriously...

Ultimately the point I'm trying to make is that we need to raise awareness for NF, and allow people like myself to fight this illness knowing our physicians are well educated on the disorder here in Canada. NF deserves to be featured on the news, on the front pages of newspapers and have articles in magazines. People like myself shouldn't have to hope that the medical professional they are seeking out is educated on Neurofibromatosis, we should be confident and know that they are educated. We need to raise awareness, because people with NF deserve the chance to fight this disorder. It's not fair for us to always be the teachers and educators on this illness while seeking medical advice. I don't have any issues with teaching other people about NF, but we shouldn't have to educate the medical community. We deserve to have our voices heard!

Thanks for reading everyone!!