Rare Disease Day 2013

Today may be a day that is unfamiliar to a lot of you. Today over thousands of individuals will be educating others a little about themselves. Today is Rare Disease Day.

A Rare Disease is defined as a disease or disorder that affects fewer than 200,000 Americans at any given time. Currently, there are 6,000 to 8,000 diseases that are classified as rare. Today I will be discussing one disease that is very personal to me (and yes, it is even speech and language related as well).

Idiopathic Intracranial Hypertension

Intracranial Hypertension (also known as Pseudotumor Cerebri or Benign Intracranial Hypertension) is a neurological disease that is characterized by intracranial swelling (high pressure around the brain) and often (but not always) papilledema (swelling of the optic disc). 

What are some symptoms of IH/PTC?

Common official symptoms:
Severe headache

Nausea

Dizziness

Vomiting

Pulsatile Tinnitus (ringing in the ears synonymous with the pulse)

Double Vision

Papilledema includes loss of visual fields

Sensitivity to light

Other unofficial symptoms:

Weight gain (we think due to medication)

Severe neck and/or shoulder pain

Upper and/or lower back pain

Numbness or tingling in the extremities

Generalized weakness

Loss of smell (rare)

Loss of coordination (not as rare)

Those symptoms are just hitting the tip of the iceberg. I'm not even talking about under the iceberg symptoms (more related to mental and emotional wellness).

Since I am educating all of you on this disease, I want to tell you about how it works and why it happens.

Neurological Anatomy

Oh yes, we're heading WAY back to neuroscience class (did anyone else have to take neuro in grad school?).

Do you all know the Monro-Kellie hypothesis? The Monro-Kellie states that there is a pressure-volume relationship between intracranial pressure, volume of cerebrospinal fluid (CSF), blood, brain tissue, and cerebral perfusion pressure (CPP). Basically it states that the volume inside the cranium is fixed because the cranium and the other components mentioned earlier create volume equilibrium. Therefore, this states that if there is an increase in the volume of one cranial component (i.e. CSF) then the volume in another cranial component must be compensated and decreased.

There are basically three theories as to why cranial pressure might be raised in IIH: an excess of CSF production, increased volume of blood or brain tissue, or an obstruction of the veins that drain blood from the brain (who can name those veins?.... come on speech paths!).

Most doctors and the Intracranial Hypertension Research Foundation accept the first hypothesis (excess CSF production).

I'm going to go back a little bit here and discuss the circulation of the CSF (thanks, Michigan State for drilling this into me). CSF is produced by ependymal cells in the choroid plexus. It then circulates from the lateral ventricles into the foramina of Monro (aka the Interventricular Foramina). From there it moves to the third ventricle, into the Aqueduct of Sylvius (aka the Cerebral Aqueduct), and moves to the fourth ventricle. Finally it will move from the fourth ventricle by the foramen of Magendie and the foramina of Luschka into the subarachnoid space to flow over the brain and spinal cord. CSF moves in a pulsatile manner and is finally reabsorbed into the Venous Sinus. It is important to know the anatomy in order to understand what is happening when there is increased cranial pressure.

How is this disease diagnosed? 

The diagnosis of IH can be made through a clean MRI and a lumbar puncture to see that the CSF pressure is elevated. Normal CSF pressure in an adult should be below 20 cm/H2O. Borderline high pressure in an adult is between 20-25 cm/H20. Anything above 25 cm/H2O is considered a high pressure reading. In children, anything above 20 cm/H2O is considered a high pressure reading.

So how is this speech related?

Some unofficial symptoms of IIH include anomia (anomic aphasia) and slurred speech. Anomic aphasia is a type of aphasia that is characterized by difficulty of recalling words/names. Many individuals with IIH become embarrassed because they believe that the slurring or anomia makes them look "stupid" or "weak".

Here is one individual's account for her speech: 
"I hate talking like a drunk/high or stroke patient. I cannot find words and stutter trying to find what I mean. I often have to find synonyms for the words I am trying to say, because I can not find the word. I know the definition of the word, but I can't say the word. I have noticed that I can know the word and think it but can't figure out how to get it out, or at least that is how I feel. I am not sure it is so much the disease only, but a combination of the medicines and the disease." - Hope 

Many doctors do not believe that IIH can cause slurred speech or anomia, but with more and more personal stories like the one mentioned above, it is reasonable to think that IIH plays a factor. If you think about it logically, it makes sense that the CSF production putting pressure on the brain can pressurize the Broca and Wernicke areas which can impact speech production and comprehension.

I'm not necessarily saying you will have a patient with only IIH coming to see you for services because you probably will not. However, you may get the patient in a nursing home or in a hospital who has other medical issues on top of IIH and needs services. Take IIH into account if they are experiencing slurred speech or anomia.

It's also important to note that children can be diagnosed with this as well. Therefore, you may get a referral in the schools for a student who seems to have stutter-like behavior or may be a quiet, shy student in the classroom and will not speak up in class. Look beyond just normal "speechy" things, and be sure to ask about medical history. The slurred speech or stutter-like speech may not be stuttering. The quiet, shy student may not be shy but may be experiencing anomia. Always be sure to ask parents for a medical history. Always.


So there's a cure... right?

Unfortunately there is not a cure for IIH. Once diagnosed it will be a disease that an individual has for the rest of his/her life. That doesn't necessarily mean that an individual will be in pain every day for the rest of his/her life as some individuals do relapse. Everyone tends to have good and bad days.

One medical intervention is to prescribe medication. Diamox and Topamax are the top two medications that individuals with IIH take. Of course these medications have their own side effects, and many individuals with IIH prefer to suffer with the increased cranial pressure instead of having to deal with all of the terrible side effects.

Another medical intervention is the placement of a shunt to redirect the excess CSF to another part of the body. There is an LP Shunt and a VP Shunt. I don't know much about these shunts, but a lot of individuals with IIH end of getting some sort of a shunt to prevent them from losing their eyesight.


Why should I care about IIH?

I understand that if it doesn't affect you personally then it's not really interesting to learn about. Honestly, the only reason I care about this and want to know everything I can is because I have this. I was diagnosed with IIH when I was in graduate school. It was an extremely terrifying time in my life, and most of the doctors I encountered assumed I was an early case of Multiple Sclerosis. Finally I met with a neuro-ophthalmologist and a retina specialist who diagnosed it as IH/PTC. Once I had an MRI and a lumbar puncture, my diagnosis was confirmed.


How has life changed?

Honestly, I'm one of the lucky ones. My life hasn't changed all that much. I was able to finish school and continue with working and building my career. I'm one of the lucky few who responded well to medication. There is no research as to who will respond well to medication and who will not. There is also limited research in who relapses and why. I go every day knowing that I could have a relapse. I just try to enjoy every day while I'm feeling good and healthy because I know that one day I may not be feeling so good.

I appreciate all of you taking the time to read this. I know there aren't any freebies or giveaways involved, but I just wanted this to serve as a reminder to take your client's medical history. You never know what could be impacting their speech until you have a full medical history.

I hope everyone is having a pain free day today!