Friday, October 28, 2011
Thursday, October 27, 2011
Thalassemia is the name of a group of genetic blood disorders. There are 2 types, Alpha & Beta Thalassemia. Rather than provide a heavy description of both, I'll provide a quick breakdown on Beta, since that is what my experience focuses on. Please check out Cooleys Anemia on a full description. The following excerpt has been copied directly from their site.
"People whose hemoglobin does not produce enough beta protein have beta thalassemia. It is found in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.
There are three types of beta thalassemia that also range from mild to severe in their effect on the body.
Thalassemia Minor or Thalassemia Trait. In this condition, the lack of beta protein is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia. As in mild alpha thalassemia, physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-deficiency anemia and incorrectly prescribe iron supplements.
Thalassemia Intermedia. In this condition the lack of beta protein in the hemoglobin is great enough to cause a moderately severe anemia and significant health problems, including bone deformities and enlargement of the spleen. However, there is a wide range in the clinical severity of this condition, and the borderline between thalassemia intermedia and the most severe form, thalassemia major, can be confusing. The deciding factor seems to be the amount of blood transfusions required by the patient. The more dependent the patient is on blood transfusions, the more likely he or she is to be classified as thalassemia major. Generally speaking, patients with thalassemia intermedia need blood transfusions to improve their quality of life, but not in order to survive.
Thalassemia Major or Cooley's Anemia. This is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.
Treatment of Thalassemia
The most common treatment for all major forms of thalassemia is red blood cell transfusions. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the patient's body needs.
While thalassemia patients were given infrequent transfusions in the past, clinical research led to a more frequent program of regular blood cell transfusions that has greatly improved the patients' quality of life.
Today, most patients with a major form of thalassemia receive red blood cell transfusions every two to three weeks, amounting to as much as 52 pints of blood a year.
Because there is no natural way for the body to eliminate iron, the iron in the transfused blood cells builds up in a condition known as "iron overload" and becomes toxic to tissues and organs, particularly the liver and heart. Iron overload typically results in the patient's early death from organ failure.
To help remove excess iron, patients undergo "iron chelation therapy," in which a drug is introduce dinto the body which binds with excess iron and removes it through the urine or stool. For many years, the only FDA approved iron chelator was Desferal, which has to be administered through a painful and difficult infusion process. When using Desferal, a needle is attached to a small battery-operated infusion pump and worn under the skin of the stomach or legs five to seven times a week for up to twelve hours.
In November 2005, the FDA approved an oral chelator, Exjade. This is a pill which is dissolved in water or juice and drunk, once a day. Many patients now have an option in terms of chelators, and it is hoped that more options will become available in the coming years.
The Compliance Problem
Compliance with chelation therapy is vital to the thalassemia patient's long term survival. However, many
patients find the administration of Desferal so difficult that they do not keep up with it or abandon treatment
altogether. If they do not have access to another chelating option, this is extremely dangerous. Lack of
compliance with chelation therapy leads to accelerated health problems and early death."
So, how does someone end up with Beta Thal Major? Basically like this:
The story of our life has been a hectic one. I wish I had begun blogging our experiences from the beginning, especially since I have yet to find any parents or families that have shared their own. My hope is that I can create a story of Mailynas life that she can look back on to see & remember her great journey. I also want to share our experience with parents who find themselves in our position & are looking for real life experience, rather than what doctors tell them about others. Talking about her struggle is something that causes 3 major things for me. The 1st is strength to push on & be the support system for Mailyna. The 2nd is pain at remembering how tough my baby has to be, every single day. The 3rd is vulnerability. A lot of times, I can talk freely about our life in the most matter of fact way that some people don’t understand. But for me, it’s a coping mechanism. Its our life. It’s the only thing that keeps me from bursting into tears. The beginning of our story is a tough one for me & causes tears to well up, but here it is…
I found myself 19 & pregnant. My longtime high school sweetheart & I were already living together & just “knew” we wanted to spend our lives together. The pregnancy was unexpected, but welcomed with open arms. I had horrible morning (ALL DAY really) sickness the first 3 months that dropped my weight drastically; celebrated my 20th birthday; dealt with my great grandmother passing within days of my prepping to announce my news... but the kicker… a simple routine blood draw that showed something called the “beta trait”, which would change my life forever.
The trait isn’t really a big deal & doesn’t majorly affect the carrier. In some instances, people could go about their whole lives with the trait & never know about it… unless they decide to have children. My then husband had to go for a blood test, only to find out that he too, was a carrier and they immediately sent us for genetic counseling. We found ourselves driving all over the Bay Area to meet with this specialist & going for screenings & tests. Ultimately I underwent an amniocentesis as soon as my doctors gave me the green light, roughly 4 months, so we could find out whether our baby would show any repercussions of its trait parents.
Through out our genetic counseling, we were given odds. There was a 25% chance that the baby would get both good genes & not inherit the trait at all. There was a 50% chance that the baby would get the trait (one good from me, one bad from him & vice versa). Then there was a 25% chance that we would both pass on the beta trait, resulting in the full disorder, Beta Thalassemia Major. Its definitely a scary thought, but the odds (75% vs 25% ) were in our favor. I actually found an online article that sums it up exactly here.
Test results took 2-4 weeks or so. All the while, this little girl was growing inside of me. I was in my 5th month watching tv after work when I received the call that the baby inherited both traits. I remember sobbing, alone in my apartment for hours. We were called into the genetic counseling office again to discuss the outcome. Turns out that not only does she have the blood disorder, it’s a rare form that meant she wouldn’t be able to make any red blood cells. She would need regular blood transfusions and chelation therapy because of the iron overload. It was a whirlwind of information thrown at my highly emotional, pregnant mind. I dove head first into the internet to research everything I could find, as we met with the specialist & clinics here in the Bay that cared for the Beta Thal community.
Although we were given the option, we decided to continue the pregnancy. This angel was growing inside of me & I loved her with all my heart. We had a game plan for our little girl & after a full 12 hours of labor, a healthy baby girl, Mailyna Aurora entered my world & changed my life forever.