Thalassemia the Day to Day Life

I wanted to share this story of a childs special need. His mom, Nicole, is one of my online support group friends. There are 3 basic forms of B-Thalassemia. Major, Intermedia and Minor or Trait. Her son has the most severe, major. Trait does not require transfusions. Intermedia does but can be as rare as once or twice a year. At this time we do not know which form Joseph has. Several doctors have reviewed his file but until we can get him home and get some proper US blood-work done we won't know if it's intermediate or major. 

Thalassemia – We adopted our son at age 3. He has beta thalassemia major, also called Cooley’s Anemia. (In China this may be called thalassemia, b thalassemia, thalassanemia, or Mediterranean Anemia. The term they use seems to have no connection to the severity of the condition. ) Before I explain his form of thalassemia, I want to let people know that I was very, very worried that this condition would dictate our lives/overwhelm us. It does not. For basically 29 days each month we have a typical 4 year old child, and then the next day we go to the hospital for 4-5 hours for a transfusion and then back to typical life. It is just part of his life. Thalassemia is not a condition in which it is life threatening on any given day, as could be the case with diabetes, asthma, or peanut allergy. It’s not like that; instead it’s about making the best decisions and making sure we are compliant with his treatment schedule so that he will be able to live the longest and healthiest life possible. We have found this condition to be very, very manageable for us. (I have been dealing with my son's thalassemia major for one year now. And after a year I still feel that way!) With my son’s form of thalassemia, (which is the most severe), his bone marrow cannot make healthy/functional red blood cells, so he lacks hemoglobin, which carries oxygen through one’s body. He survives by receiving a transfusion of red blood cells every 3 or 4 weeks (depending on how quickly his hemoglobin drops). The transfusions supress his bone marrow from attempting to produce the defective cells. Each transfusion brings iron into his body, which the body has no way to get rid of. He must take a daily chelation medication (called Exjade, a pill which must be dissolved in juice or water) to help his body get rid of the excess iron. The main cause of death related to thalassemia has been cardiac arrest/heart attack due to iron depositing in the heart, and life expectancy PREVIOUSLY was around 20 years of age. With compliance with daily chelation medication, the goal is to keep the iron out of the organs. With the use of Exjade (came out around 2005), the belief by doctors is that life expectancy should be comparable to any other person without thalassemia. However, since it is a new medication and current thalassemia patients have not been on it for too long, the data is not in yet. However, there are people living into their 40s and 50s with thalassemia, and they did not have access to Exjade (they used an infusion pump system with a medication called desferal). We take our son once a year for a special MRI to determine the amount of iron in his liver (first organ to collect iron) and that is what the dosage of his chelation medication is based on.

Some of the things to really consider if you are thinking about adopting a child with thalassemia:

- how close are you to a hospital? We live 20 min from one and that works great for us. You would be going every 3-4 weeks for about 5 hours. (Warren Clinic has a hematology department that treats Thalassemia and has several patients at St. Francis.)

- can you take time off from work to take your child for a transfusion every 3-4 weeks? (Yes. And with Dustin on shift even he could take Joseph during his days off though the week.)

- Can you bring your child to one of the 9 thalassemia treatment centers in the U.S. once a year for a special MRI and a consultation with a thal. specialist? (Yes, however there is a non-CDC children's center in Dallas that has the equipment to test his liver iron level.) 

I want to mention that we live in a small state. Our son is the only thal. patient at our hospital. And yet, I know from our visit to a thal center and from talking to other parents with children with this condition that my son is getting the same level of care as he would at a major thal center!

Now this mom has a very positive attitude but the treatments she is referring to are not available in China. The lack of chelation allows deadly iron to build up in the organs. They do not have Exjade available even though it has been the standard of care here for the past 5 years. Chelation treatment in China doesn't even use the infusion pump. SOME (not all) thalassemia major kids in China are given chelation med (desferal) in an IV during their transfusion (Same medicine that is in the pump that people use.  The pump recommendation is 12 hours a day for 5-7 days a week.  So getting it for an hour each month is no where near the amount that would make a difference.) They also over transfuse kids to higher adult levels monthly, possibly waiting longer between transfusions. 

I want to point out that five years ago the Desferal infusion pump was the best we had to offer as well. That contributed to the non-compliance especially in teenagers. I can only imagine what a hassle they would have considered using the pump for 12 hrs a day. The silent iron buildup doesn't cause any symptoms or pain that would encourage compliance. Exjade is a oral pill taken once a day and compliance is expected to be much much higher. Many people take a daily pill to keep themselves healthy. Right now, there are two new medicines in human trials for future chelation use. This is not a common issue in the US but it is huge in other parts of the world. Some of these countries also have the resources to commit to finding treatments for Thalassemia. Our CDC sponsors several speciality clinics here in the US where research is being done as well. 

The saddest news is this. Chinese children are only eligible for adoption until they turn 14 years old. But there are no 13 year old children with Thalassemia on the shared list of over 2000 kids. And no 12 yr, 11 yr or 10yr olds. The oldest child I have seen is one 9 year old. Most of the Thalassemia kids ages stop around 7 years old on the shared list awaiting adoptions. This is most likely because of not using chelation medicines. The iron buildup does cause fatal organ failure. So it is of the utmost importance that the iron be removed. Treatment in the US would stop and reverse some of the iron buildup. The bottom line is life expectancy in China is in the single digits. Mushrooms, scorpian tails and fish soup doesn't cure Thalassemia. But with the medicines in the US they can live a full life here. 

We didn't know anything about Thalassemia when we were drawn to Joseph. It took a lot of research and learning to get to the point we are now. But as I pointed out in his story sometimes it's fate. We absolutely believe Joseph will lead a healthy and long life in our family.