Saturday, January 24, 2009

Sickle Cell Disease Around The World

I was researching Sickle Cell Disease around the world…I’m just a curious soul…. and what I kept finding (in different reports) was the same quote: “The origin of Sickle Cell Disease is Africa and primarily affects people of African decent.” I even read one (racist) report that said: “The African footprint in the world is Sickle Cell Disease.” I was baffled. I’ve heard of cases of Sickle Cell Disease in India, Saudi Arabia, Asia, United States, Spain, Italy, Mexico and Africa.

My belief is that Sickle Cell Disease is a human condition, not just an African condition. I got busy researching to see if my belief was correct. What I found was related to genes and human diseases located on the World Health Organization’s (WHO) website.

The source of Sickle Cell Disease, I found, is not the African footprint, but DNA (DEOXYRIBONUCLEIC ACID). DNA is the blueprint of life and has the instructions for making each and every one of us. According to the WHO report, “Pure genetic diseases are caused by a single error in a single gene in the human DNA.”

The report goes on to say, Sickle Cell Disease is one of many “monogenic diseases” resulting from modifications (errors) in a single gene that occurs in all cells of the body. These monogenic diseases affect millions of people worldwide, and scientists estimate that over 10,000 human diseases are known to be monogenic.

Some monogenic diseases are:

Thalassaemia, Sickle cell anemia, Haemophilia, Cystic Fibrosis, Tay sachs disease, Fragile X syndrome (cause of retardation), and Huntington's disease.

The rate of all single gene diseases at birth is approximately 10/1000. This means for every 10,000 people born, 10 of them will have a monogenic disease.

So, is my belief correct that Sickle Cell Disease is a human condition? Yes. Like any of the other monogenic disease, Sickle Cell Disease is a boo-boo of the DNA….now let’s try to get it fixed!

Thursday, January 15, 2009

Why Do We Need Water?

In people with Sickle Cell Disease their red blood cells are dehydrated (they are thirsty for water). These cells are thirsty each and every day. Just imagine living in the Sahara desert and there is nothing but sand. Eventually, you will die of thirst, and you will die quickly. Well, that’s what happens to our red blood cells. They need water….everyday.

Dehydration in red blood cells, (according to American Society of Hematology) is due to increased loss of potassium, chloride, and water. (Yes, momma says “eat those bananas for their potassium too!!!”) By keeping hydration (water) in red blood cells they can survive longer. With longer surviving red blood cells in our body we will have more red blood cells (sickled or not) available for our beautiful bodies to use.

There has been research in trying to hydrate red blood cells with medication (US Institute of Health clinical trial), but this research has not fully been successful. %22Anemia%2C+Hemolytic%22)

There is hope, however, that we can do our part by DRINKING MORE WATER, and we can wait for researchers to do their part. This is one more bit of information that our doctors don’t tell us. Why we need water? Now, I’m thirsty!

Saturday, January 10, 2009

Retinal Detachment and Sickle Cell Disease

A complication of Sickle Cell Disease is a condition of the eye called Retinopathy. This condition occurs when the blood vessels in the retina become blocked, grow haphazardly or become leaky, and extra blood is trapped within the space between the eye lens and the internal membrane of the retina. This can damage the retina and cause retinal detachment.

Retinal detachment is a medical emergency. The detachment of the retina is painless, however, if not treated quickly, can cause permanent, partial, or total vision loss. Symptoms include: sudden appearance or increase in the number of “floaters,” (which are shapes that float in the eye and are seen in the field of vision), brief flashes of light in the eye, loss of the eye’s central or peripheral field of vision, a curtain appears to fall over part of the visual field, and sudden changes or blurring of vision.

To see, light must be able to pass through to the retina without anything getting in its way. You may not be aware of changes to the retina until your vision has been impaired. Distinguishing if blood is floating between the internal membrane and the retina's nerve fiber layer is not always possible, and this is why we must have our eyes screened every year.

My daughter suffers from this Sickle Cell complication and the suffering she endures is heartbreaking. Cataract surgery (at 14 years old), and vision loss is something she has tolerated. I watch her battle for healthy eyes with tears in my own.

The branch of medicine that is concerned with the diagnosis and treatment of eye diseases and conditions is ophthalmology.

Have you seen your ophthalmologist lately?

Friday, January 2, 2009

Aging and Sickle Cell Disease

When I was 10 years old a well meaning doctor bent down to my 3 foot height and told me very gently, “You know, you’re only going to live to be 30 years old.” I blinked and thought, “That’s a long time from now.”

Fast forward thirty-eight years and I’m 48 years old and still alive.

That doctor didn’t realize that he had given a 10 year-old child a death sentence. He could not have imagined that his prognosis would sit in the back of my mind as I turned 20, then 30 and then 40 years old. As I aged, I laughed at that doctor’s prediction, but secretly I prayed for God to give me more time.

As time passes, and I age, I discovered that Sickle Cell Disease would take its place as the most important thing in my life. The effects on my body have been gradual, yet undeniable. Regardless of how well I “take care of myself”, I have to pay attention to everything I do as it relates to my health.

Recently, I heard a young man with Sickle Cell Disease say “Sickle Cell gets better as you learn how to live with it.” Sorry baby, that ain’t true. Sickle Cell Disease doesn’t “get better.” The lack of oxygen, low red blood count and trapped sickling cells eventually takes its toll on your joints, internal organs and your life. This is not bad news, it’s the truth.

There is good news, however. There are things we can do to help ourselves live and age well. I call them “the five mandatory things.” They are; drink lots of water (to keep your blood fluid), take vitamins (to get extra nutrients), rest, rest, rest (to rejuvenate your aging body), eat healthy foods (anything that assist in blood development {I know I hate liver too}), and exercise (mild movement to keep the aging body mobile and to increase oxygen). These five things have helped me live past my doctor’s dooms day prognosis.

Does Sickle Cell Disease get better? No. Do people living with Sickle Cell Disease get smarter? Yes.

The smarter you are the longer and healthier you’ll live. Will you still have episodes of pain? Yes. But, the better you get at managing your disease (doing those five things) the better you will manage the “triggers” of Sickle Cell “crisis”. The more clearly you are about accepting your condition, AND your responsibility to live your best life in spite of it, the better life will be. There are some uncontrollable issues like stroke, and spleen infarctions that can’t be managed, but so what.

We can hope for a “complete” cure, and in the meantime, also live full happy lives. I’ve even heard of people with Sickle Cell Disease living to be 70 & 80 years old. (I haven’t met any of them yet, but I hope to join their club of survivors.)

Do I know a thing or two about living this life with Sickle Cell Disease? Yes, I do. All 48 years of it (and past that darn number 30!)