BCL11A

Researchers have finally identified the genetic address of Sickle Cell Disease. It’s BCL11A, that wonderful alphanumeric.

In a report from the National Institute of Health on Friday, December 19, 2008, they report, “Researchers have identified a gene that directly affects the production of a form of hemoglobin that is instrumental in modifying the severity of the inherited blood disorders sickle cell disease and thalassemia. The discovery could lead to breakthrough therapies for sickle cell disease and thalassemia, which could potentially eliminate the devastating and life-threatening complications of these diseases, such as severe pain, damage to the eyes and other organs, infections, and stroke."

This is only the beginning.

Researchers report that by suppressing the gene BCL11A, fetal hemoglobin (HbF) production could improve dramatically. They say, “New therapies targeting BCL11A would be the first to directly affect the natural processes involved in increasing HbF.”

They’re not there yet.

So, what does this mean? I don’t know, but what I do know is that if researchers can “target” the gene, then help is on the way.

I hope I live to see the day.

Source:
http://public.nhlbi.nih.gov/newsroom/home/GetPressRelease.aspx?id=2607

This Ain't No Pity Party

I was reviewing my blog and I kinda felt the “woe is me” vibe coming from my words. That is the farthest from what I feel, think or believe. I have Sickle Cell Disease, like millions of others. We all suffer in silence because no one can feel our pain for us. We all live past this pain. We all work, play, sing, and dance despite our condition. Heck, a few of us even do great things with our lives (shout out to T-Boz from TLC). So, this blog is not a pity party, a cry to the blues about my sad story, or even an indirect way of getting compassion. I live on anyway!

What this blog is is a light shining in the dark. The darkness of ignorance and suffering. This blog is a way to document the plight of people living with Sickle Cell Disease and offer an “inside look” at our suffering.

Do we want compassion? Yes. A warm hand on our throbbing legs is greatly appreciated. Do we want pity? Hell no! We lay in our hospital beds with IVs of glucose and blood flowing and all we want is a smile, our hands held, and your love. Thank you very much.

Work and SC

Most people are defined by the work they do. A fireman will boast about how many fires he puts out, a doctor will describe a perfect surgical procedure she has performed, or a singer will sing songs that people love to hear. Work is good, and a job well done always feels good too.

People living with Sickle Cell Disease, if they can work, press past the pain and limitation of their bodies and try to earn a living like everyone else. We take our medications and pray for painfree days. We get up eachday and give life the best we have. When Sickle Cell Disease, however, takes a more prominent place in our lives, work seems impossible. Simple tasks, like getting up and getting dressed can take all our energy. When this dreadful day comes, a person's sense of worth can come into question. They might ask, “Do I still matter?”, and “Am I of value to anyone or anything?”

I asked myself these questions when Sickle Cell Disease came and took my career away from me. No longer could I answer the question, “What do you do for a living?” I was sick and in pain, that’s all. The career I worked so hard to achieve for over twenty years was gone. Even though my mind was willing, my body and Sickle Cell Disease said “enough!” Since that time, I have made peace with Sickle Cell Disease. And I have concluded, I do matter, despite my illness. I have value, even if I don’t have a career to boast about.

The complications of Sickle Cell Disease are: (pneumococcal pneumonia,gallstones, enlarged heart, heart murmurs, myelofibrosis, anemia, enlarged spleen/destroyed spleen, enlarged liver, oxygen deprivation, high Blood pressure in the lungs, pulmonary hypertension, avascular necrosis, stroke and pain) should also include the loss of work, career, value, and worth.

Despite these losses, people with Sickle Cell Disease have to fight each one of these complications, and we must live on….anyway.

To Those Who Care About Us

I was going to write a separate blog for each wonderful Sickle Cell Center, Hospital, or Clinic that stood out as a beacon of hope for patients with Sickle Cell Disease. What I found was way too many of them to mention separately.

There are so many doctors, advocates, universities, clinics and organizations who are fighting in-behalf of patients with Sickle Cell Disease. They are working to touch the lives of hurting people, researching new drugs to give comfort for their pains, and fighting the uphill battle to find a cure. The more I researched the more I was moved to tears.

There is an army out there who cares about me and all the other patients suffering with Sickle Cell Disease. To this army of health care professionals who see pain and suffering everyday, I say thank you for your compassion. To the advocates who organize walks, conferences and seminars, I say God bless you. And, to those researchers who never get tired of looking into a microscope at sickle cells, looking for a cure, I say DON’T GIVE UP.

There is an army of Sickle Cell patients cheering you on, petitioning God in your behalf, and silently hoping for your success. I tip my hat, I bow my head in respect, I yell “YIPPY!!!”, and I pass on their love for all your hard work.

NICOSAN vs. HYDROXYUREA

There has been a lot of talk about drugs that treat Sickle Cell Disease. (Not to mention cures that work for a few people but not all????) Currently, I’m not taking any drugs but I really wanted more information about the two drugs available, Nicosan and Hydroxyurea.

Here’s what I found:

The first drug I’ll discuss is the only US Food and Drug Administration (FDA) approved drug for the treatment of Sickle Cell Disease. It is Hydroxyurea, which is sold in the US under the trade name Hydrea(TM). It has also been used in the treatment of leukemia and certain other cancers.

Hydrea induces the synthesis of fetal hemoglobin, which inhibits the production of the abnormal sickle cells (what the heck does that mean?). I believe that means; this drug causes the production of healthy fetal hemoglobin without the sickle cell abnormality. In other words, it makes your body make good hemoglobin. Why do we care? Well, hemoglobin carries oxygen inside the red blood cell. One little change causes the hemoglobin to form long rods in the red cell (when it gives away oxygen). These rods change the red cell into the sickle shape…and we don’t want that.

The reports on this drug are mixed. I’ve read that not all patients respond to this treatment, and I’ve read of cases of leukemia being developed in patients…now, that’s scary.

Second, there’s Nicosan. Formally know as Niprisan, and in America it’s known as Hemoxin. This drug is not approved by the FDA. It is manufactured in Nigeria, Africa and is supposedly in clinical trials there, but none have begun in the United States. This drug is a plant base drug which means it’s made from organic plant material…that’s gotta be good, right? Some side affects reported are rash, headache, and weight gain.

XECHEM, the company that makes Nicosan in Nigeria, Africa says “Though NICOSAN/HEMOXIN does not cure Sickle Cell Disease (SCD), the medicine greatly reduce the degree of "sickling" of the affected red blood cells, which in turn eliminates or greatly reduces the devastating secondary consequences most patients succumb to, including strokes, kidney and liver failure, and extremely painful episodes known as "crises."

The problem with this drug is complicated.

It’s not FDA approved. Now, to get a drug tested and approved by the FDA takes loads of red tape (aka requirements). These red tape requirements could take a drug many, many years to get approved for use(in the US). This does not mean that a drug is not good or that it doesn’t work (look at Chinese medicines that are not FDA approved…where was the FDA in the first century anyway????)…..get it….the FDA is an American drug law/rule/red tape. But somehow, it makes me feel safer to take a drug that’s approved, and tested, with side affects known.

In addition, XECHEM (the company that produces Nicosan in Nigeria), said in a report to the SEC, “There is a lack of data to document the influence of raw materials (i.e. plant material quality, age, time of harvest, location, soil quality, preparation, handling, etc.) on the production of NICOSAN/ HEMOXIN.”
I have a problem with this lack of “data”.

Also, I’m not sure about the future of Nicosan because, according to a report to the Securities and Exchange Commission (SEC) by XECHEM, they are having severe financial troubles and may file bankruptcy.

So, in conclusion, I don’t know anything. All I know is that there are people suffering with Sickle Cell Disease, like me, and I would love to take a pill and send it far, far away.

Sickle Cell Pain

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Let’s finally talk about pain. I’ve avoided the subject because I wanted to stay upbeat and positive. But, the more I write and talk about Sickle Cell Disease, the more I see the need to discuss pain.

How does Sickle Cell pain feel you ask yourself? Well, I’ll tell you a few examples of the types of pain that I have personally felt during my life’s journey with Sickle Cell Disease.

1. Stabbing pain like a knife is pressing into my bones (sharp and thrusting).
2. Throbbing pain like a motor is running and it’s drilling pain through my body.
3. Quick burst of pain like a lightening bolt shocks electricity through me.
4. Slow, nagging pain that hangs around all day and night continuously tapping at my joints and bones.
5. Bloated, swollen pain like a ball is sitting on my spleen tender to any and all touch.
6. Headache/eyeache pain like a migraine that comes and goes whenever it pleases.
7. Sickle Cell “crisis” pain is like everything described above all at once.

Yellow Eyes

I always wondered why people who suffered with Sickle Cell Disease had yellow eyes. Not yellow contact lenses, but the white part of their eyes were yellow instead of white. I found the whites of my eyes would turn yellow periodically, and the only time they truly became white was when I was hooked up to an IV of glucose (sugar & water) in the hospital after a Sickle Cell crisis.
(picture is from internet...not me)

My curiosity peaked. I wanted an answer to this question, as well as all those people who asked me “Why are your eyes yellow?” Google came to my rescue as I searched key words “Yellow Eyes”, and here’s what I found.

1. Usually yellow eyes result from the build up of by-products from the increased destruction of red blood cells.

2. Yellow discoloration of the skin, and whites of the eyes are a result of an excess of the pigment Bilirubin in the bloodstream (also known as Jaundice) http://en.wikipedia.org/wiki/Jaundice

3. Bilirubin is the yellow breakdown product of normal hemoglobin. http://en.wikipedia.org/wiki/Bilirubin

4. Heme is formed from hemoglobin, a principal component of red blood cells.

5. Bilirubin is excreted in bile, and if its levels are elevated, it is responsible for the yellow color of bruises and the yellow discoloration in jaundice.

Conclusion,
People with Sickle Cell have an increased number of “damaged/dead” red blood cells. These red blood cells contain hemoglobin that’s damaged/dead too. This damaged/dead hemoglogin contains Bilirubin which is the breakdown product of hemoglobin. A larger than normal amount of Bilirubin in the body, accumulates in the blood causing jaundice. (yellow skin and eyes, and darker than normal urine.)

Shout Out To Clinics

This is the first shout out (say hello) to all those people/clinics who provide comprehensive services for both adults and children and the families of those with Sickle Cell Disease.

The University of Illinois Medical Center has a mission to "improve the quality of life for individuals with sickle cell disease and to reduce the morbidity and mortality of the disease through high quality medical care, patient community education, and research into new therapies.

And, they do just that!

Their encouragement, compassion and quality medical support is greatly appreciated. People with Sickle Cell Disease live better because of your tireless work.

THANK YOU!!!!!!!!!!

Why Is My Spleen Swollen?

After having a Sickle Cell crisis last year I experienced a new complication of Sickle Cell Disease. I experienced pain and swelling in the upper left part of my stomach. My doctors said that my spleen was swollen and that it should go down soon. Nine months later, it’s still swollen and tender to any pressure or touch. This problem isn’t going away.
I’d heard about spleen problems being associated with the many complications of Sickle Cell Disease, but I hadn’t got my dose of this problem, yet. Now that I’ve joined this happy group, I wanted to know more.

****** The problem I’m experiencing is called Hyposplenism (or reduced spleen function). And, they call it Asplenia (the absence of normal spleen function.)******

MY QUESTIONS ARE: What in the heck is the spleen and what is its function in the body?

1. The spleen is an organ in the upper left side of the abdomen that filters the blood by removing old or damaged blood cells and platelets.
2. It also helps the immune system by destroying bacteria and other foreign substances.
3. It also holds extra blood that can be released into the circulatory system if needed.
4. The spleen is a useful but is a nonessential organ. It is sometimes removed (splenectomy) in people who have blood disorders, such as thalassemia or anemia.
5. If the spleen is removed, a person’s of risk infection greatly increases.

WHAT DO I DO NOW?

Not much. As my spleen function decreases, I MUST prevent infections and get flu vaccines every winter. Eventually, my spleen may need to be removed as the “absence of normal function” causes more swelling, pain, or disfunction. I’ll hold my breath until that day comes…..just kidding, don’t want to turn blue too.

Oh well, life is hard, I'll get a helmet :-)

News Report About Sickle Cell Disease

News report from Oklahoma regarding the Sickle Cell Care Walk for Life. This report focuses on Joy Harrell, a mother, wife, and Sickle Cell patient.

We must remember, thousands of people around the world suffer from Sickle Cell Disease. Let's keep walking and talking to bring attention to this disorder.

Communication = Attention = Funding = Cure

September - Sickle Cell Awareness Month

SUFFERING IN SILENCE
Art by Nazaire
Order t-shirts of Nazaire's art at www.sicklecellart.com

(Maximize for better view)

What is Avascular Necrosis?

Avascular Necrosis is one of many complications of Sickle Cell Disease. This condition is a result of temporary or permanent loss of blood supply to bones. Without blood, bone tissue dies and causes the bone to collapse. If dead bone tissue is near a joint (hip or knee), the joint may also collapse.

Is this painful? YES

I was diagnosed with Avascular Necrosis (also known as Osteonecrosis) in 1992. After having multiple Sickle Cell "crisis" in my legs, the lack of blood supply to my hip joints over-time caused Avascular Necrosis in both my hips. The cartilage has also decayed causing bone-on-bone exposure. When I walk, sometimes I hear a crunching sound from joint and bone rubbing against each other. The only long-term treatment for this condition is hip replacement.

A few years later, I was also diagnosed with Avascular Necrosis in my right knee which also causes joint pain and swelling. The eventual treatment for this condition is a knee replacement.

Am I afraid? NO

I have found herbs and vitamins that strengthen bones, help with pain, reduce swelling, and have given me some relief (and postponed the hip and knee replacement).

NOTE: I drink LOTS OF WATER everyday and I don't take any of these items everyday. I alternate them and sometimes I rest my system and don't take anything at all. Everything in moderation!!!!!!

Here's what I take:

Osteo Renew - for bone strengthening
Women's Ultra Mega - for bone health
any Multi-vitamin - any brand for vitamins A-zinc
any Antioxidant (with Green Tea, Grape Seed and Pine Bark) - to keep infection down.
Folic Acid - for blood
B-12 - for blood
Maxi-Minerals - for extra minerals needed for bone health
MSM - for joint and cartilage health
Garlic - for overall infection reduction
Iron - for blood
Cod Liver Oil - for vitamins A & D and joint lubrication
Flax Seed Oil - for overall health and joint lubrication
Arnica massage oil - to massage on knee and hip joints for pain
Yogi Joint Comfort Tea - drink tea to help relieve pain (It works!)
Echinacea/Golden Seal Tea - drink for immune health (helps cold/flu)

It's 2008, I'm not dancing anymore, but I'm still walking and still thankful for no titanuim replacements in my bones. Yeah!!!!!!!!!!!!!

Chris

Doctor's at Emory University and Harvard Medical School are working for long-term solutions to find a cure for Sickle Cell Disease, not just a treatment.

Chris is one story about receiving a bone marrow transplant. The long-term results are yet to be seen. But, let's cheer on the doctors for making these treatments available.

Roxanne

This is not uncommon. When admitted into the hospital, some Sickle Cell patients encounter doctors unfamiliar with Sickle Cell Disease. Some doctors may think you're on drugs, over-reacting to pain, or unsure of how to treat you. The more we talk about Sickle Cell Disease, the more doctors will investigate this disease and educate themselves.

DNA in Cord Blood Cures?????

Healthy DNA is taken from stem cells that are in the cord blood of healthy pregnant women. Stem Cell research is going on at Johns Hopkins and other hospitals around the country.

Read about this story at:
http://www.cordblood.com/cord_blood_banking_with_cbr/realpeople_realstories/davis/index.asp

Your Story - Preston Carson

My first story is about Preston Carson. Born January 27, 1949 in Evansville Indiana, Preston was the second of nine children of Cora and Charles Carson. He weighed 9.5 lbs, but his mother Cora sensed something was wrong.

The first six months of his life were normal, but Cora noticed the whites of his eyes were sort of yellow. He was first diagnosed with Yellow Jaundice with low blood count. After swelling of his hands, feet and belly, doctor’s diagnosed Preston with a spleen dysfunction. It wasn’t until Preston was three years old and after various illnesses; he was diagnosed to have Sickle Cell Anemia. Preston inherited a Sickle Cell hemoglobin (S) gene from each parent.

Preston’s parents never heard of Sickle Cell disease and never knew they each carried the trait. Once they were educated about the disease, they had all their children tested, and out of 9 children, all but one tested positive for the trait. Preston had one Sickle Cell crisis after another, enduring swelling, bloating, pain and seizures. He also lived with great risk of infection because his spleen would always swell with every Sickle Cell pain episode.

As a child, when Preston was admitted into the hospital for one illness or another, doctors would bring groups of interns in to study him; observing and writing while he sat and watched them. In the 1950’s, doctors just didn’t know enough about Sickle Cell Anemia, so they used patients like Preston to learn. Preston’s first memories of life were having needles in his arms and blood transfusions. Doctor’s originally told Preston’s parents that he would not live five years after his initial diagnosis. Later, they told them, Preston wouldn’t live past 15 years old. Preston did live.

Preston grew up, got married, and was the proud father of a daughter. He rode a motorcycle, enjoyed 4H Club activities, wrote poetry, fished, drove race cars, and played tennis. Beside living life the best he could, Preston did feel the strain to not be depressed, or feel physically inferior. He believed people automatically looked down at him because of his physical limitations. He also believed if people knew how it felt to live in pain all of their lives, and have no one understand their hurt, they would be more caring. He wanted someone to tell his story and his mother-in-law Beatrice did.

Beatrice Brewer wrote “Crystals in My Bone”, Authorhouse, 2005. This book is sort of scrapbook of Preston’s family, his life and his struggles with Sickle Cell disease. In this book, Beatrice tells funny family stories mixed with Preston’s own stories about life. Beatrice ends her book with an obituary and a poem. The obituary reads, “Mr. Preston Eric Carson, January 27, 1949 - August 30, 1996.”

The poem reads,

"Millionaire by Preston Carson (written when he was 32).

A millionaire with surplus cash I’m sure I’ll never be,
But with my dear ones by my side this will not bother me;
I’m sure it’s true for most of us small families everywhere,
We’ve all the riches that we need if we have love to share.”

Speak Up

Tell me your story, email it to info@pallenjones.com

I will feature one brave story each week of people living with Sickle Cell disease. Our stories will inspire, encourage and educate all of us.

Let each one, teach one.

Would You Participate in Clinical Trials?

According to the Washington Post, May 29,2008, Johns Hopkins Institute researchers developed a human stem cell line containing the mutation associated with sickle cell anemia.

They say, "One challenge to studying blood diseases like sickle cell anemia is that blood stem cells can't be kept alive for very long in the lab, so researchers need to keep returning to patients for more cells to study."

Linzhao Cheng, an associate professor of gynecology and obstetrics, medicine and oncology, and a member of the Johns Hopkins Institute for Cell Engineering said, "Having these new cell lins available might enable some bigger projects, like screening for potential drugs."

Would you get involved in clinical trials if you thought it could help find a cure for Sickle Cell Disease?
Check out the link http://www.clinicaltrials.gov/.

There may be something you could do to help researchers.

Everyone - Anyone

The Blood Cell

This is the red blood cell in a normal round shape, as well as, in the elongated sickle shape.

Hopeful Voice

This blog is intended for information and communication between those people living with Sickle Cell disease.