Happy Rare Disease Day!

Today is Rare Disease Day 2012! Who knew there was a special day set aside just for talking about rare diseases? I only just found out about it minutes ago, and just in time to celebrate.

In honor of Rare Disease Day, I decided to check out the Rare Disease Database to make sure my rare disease was listed... and it is! Gilbert Syndrome's listing is there, and fairly accurate:

Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when the liver breaks down old or worn out red blood cells (hemolysis). Individuals with Gilbert syndrome have elevated levels of bilirubin (hyperbilirubinemia), which occurs because they have a reduced level of a specific liver enzyme required for elimination of bilirubin. ... Bilirubin levels may increase following stress, exertion, dehydration, alcohol consumption, fasting, and/or infection.

I did learn some other names for Gilbert's, including, Unconjugated Benign Bilirubinemia, Meulengracht's Disease, and Familial Nonhemolytic Jaundice. My personal nickname for it - Semi-Chronic Fatigue Syndrome - has not yet made the list. I call it that, as when my bilirubin levels rise, I feel it more as fatigue (and often hunger) without exhibiting too many outwardly visible signs of jaundice. It also makes my urine look like thick orange paint. Aren't you glad you asked?

Unfortunately, according to the Patient Organizations Database, there is not yet an organization dedicated solely to Gilbert's, although there are a few general liver and genetic disease organizations that would gladly accept me as a member.

So, how will you celebrate Rare Disease Day 2012? Visit rarediseaseday.org for fun party ideas, or maybe some serious life saving information.

Sleep Clinic - Follow-up

A couple of weeks ago I wrote about my first visit to the sleep clinic. Following that night in the clinic I was officially diagnosed with Severe Obstructive Sleep Apnea. This last Monday night I made my second visit, this time to test out sleeping with a CPAP (continuous positive airway pressure) device.

The CPAP is a machine that basically forces you to keep breathing by putting a continuous flow of air into your nose by way of a small mask (see picture at top right). Fun, huh? Here's the comparison of the data:

Full Stops: This is now many times I completely stop breathing during the night (apnea). Sleeping "normally" I had 228 full stops. With the CPAP only one.

Partial Stops: Sleeping normally, 65. With the CPAP, one.

Oxygen Saturation: The lowest reading on my blood oxygen level during the night. Normal, 74.5%. With CPAP, 94.6%.

"Respiratory Disturbance Index": The average number of apnea and hypopnea incidents per hour. Sleeping normally, 42.4. With the CPAP, 0.3.

So, obviously, a dramatic difference. By wearing the silly mask and air pump I sleep like a normal person and have a chance at actually experiencing a day without walking around like a freaking zombie from exhaustion.

I was given my CPAP machine today and will start sleeping with it at home tonight. (For those who know and care about these things, my setting is 10).