Hello everyone! I'd like to introduce myself to the everyone. I'm a male in my early/mid 20's from USA with Thalassemia Major. Diagnosed at 14 months of age and transfused for the first time with a Hemoglobin of roughly 7 shortly thereafter. I consider my life to be a blessing because even though I was born in the 80's it is surprising the doctors were oblivious to what was wrong with me and like with MANY MANY cases I was given iron supplements to treat the supposed "iron-deficient" anemia that I had. As expected that did not work and I was referred to a hematologist who knew right away what he was seeing.
Life with thalassemia is obviously not easy. With monthly transfusions and no oral chelator it was a huge challenge. 1 thing that I've noticed is that support from family and true friends goes a long way. Not only in achieving worldly success but in being at peace and high-spirits regardless of your condition. They give you the will to carry on and more than anyone, make you feel normal.
For me this has been a great deal of support in getting where I am today. I wouldn't say I am at goal in terms of health but I am determined to make it. Despite all the hardships I had a drive to be able to support myself, financially and live a life as normal as possible. With blessing from God and motivation I became a Doctor of Pharmacy and am happily practicing in the US. And, to cap things off, I'm happily marrying my girlfriend by the end of the year!
Moral of the story: work hard work hard work hard. NEVER lose hope. That's all you have. We only live once, if we don't use it we won't get another chance. Never let anything define you. You, yourself, define you. Remember Thalassemia may affect every part of your body but it cannot affect your mind unless you let it. With all the advances going on as of late we are in hope of a cure finally!
In my opinion Thalassemia/Sickle-Cell is one of the easier diseases to cure via stem cell / gene therapy. The reason is because this disease occurs due to the misuse of only ONE base pair of DNA. Think, just 1 switch of a base-pair causes such a great manifestation! But likewise we can have hope that when gene therapy finally cures a disease Thalassemia will be in the first batch of diseases cured.
Now that we have oral chelators we should really be at optimal ferritin levels <1000 which really prolongs survival and quality of life. In the meanwhile, we anxiously wait for a cure.
My top prospects as of now are: HQK-1001 (
http://www.hemaquest.com) and gene therapy (Michel Sadelain/Pat Girondi).
HQK-1001 looks to be very promising and is speedily, as planned, progressing through clinical trials showing great safety and efficacy. My only concern is that this drug is being tested in sickle-cell and Beta-Thal INTERMEDIA/ hemoglobin E disorders, which does not include Thal Major. This is probably because these types of thalassemias require less blood transfusion and would probably be completely sustained on HQK-1001, if successful. These patients have higher Fetal hemoglobin than Thal Majors, on average, I assume. I would hope that the indications would extend to cover B-Thal Major. The problem with Beta-Thal Major being practically 0 self-capacity to produce viable hemoglobin and will require tremendous amount of Fetal Hemoglobin to solely carry the patient. But I'm sure many patients would be willing to live on Hgb of 9-10 if it meant no more chelation/transfusions ever again!
My comments on Gene Therapy: This is an ongoing process. We hear in the news on a daily basis of cures in patients with various conditions. As many of you already know the long term effects of gene therapy have to be evaluated before approval and use in patients. But just as important is the need for gene expression after the therapy is completed. In other words as Pat Girondi says, even a little bit of gene expression and we're good! Gene expression will "command" the body to produce hemoglobin that is useable.
Either of these solutions will be ground-breaking developments not only in Thalassemia but in medicine itself. I wish everyone the best of luck and hope we can all succeed and be cured. Just imagine, a life with no transfusions, no chelation. You'd feel like the shackles have been removed and you are finally a free man (woman). The ironic thing is its a feeling that we have never felt before, since Thalassemia is all we've ever had. My advice to everyone is BE ACTIVE. Gather funds and support the people working so hard trying to help US. Thalassemia is truely an orphan disease which obviously will not generate much interest in research; so we need to have our own voice. For the meanwhile enjoy life and I wish everyone the best of health!
CrazyPharm