It seems each month when China's latest Shared List comes out, I get several emails from parents who have been matched with a child with thalassemia and want to learn more about the condition and what is is like day-to-day. Between when the Shared List comes out each month,I also get multiple emails from parents who have seen a photo and description of a child with thalassemia who is on an agency's designated list and want to learn more about the condition. I realized I have hundreds of emails from the past 2 years that have many of the same questions and answers about thalassemia. I felt it might be more efficient to put all this information in one document. Folks over at RQ suggested posting it on a blog for people to access. If you want a copy emailed to you so that you can print it out for your own reference, please just email me. Also, feel free to email me at any time if you have any questions.
Choosing to Adopt a Child with Thalassemia
(and information for prospective adoptive parents, about thalassemia)
Nicole Walsh
August 2012
Background on our Journey:
We adopted our son, at age 3 (in April 2010), from China. When we chose to adopt him, we were aware that he was listed with a special need/medical condition known as beta thalassemia major, also called Cooley’s Anemia. 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 and overwhelm us. The reality is for us, that it does not. For basically 20 days each month we have a typical 5 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. It is all he has ever known, and he takes it in stride. Thalassemia is a very serious and chronic medical condition. However, it 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. (UPDATE: We have found it so manageable, in fact, that in August 2013, we returned to China and adopted our daughter, a 2 year old little girl we named Sarah, who also has beta thalassemia major.)
I want to also share that prior to November 2009 I barely knew what thalassemia was. I knew thalassemia was a type of anemia that could not be fixed with iron supplements. I knew it was genetic and remembered during a prenatal visit for our biological son, the nurse had asked if thalassemia ran in my husband’s family, as he is Chinese. Again, little did I know that one day I would parent a child with thalassemia, by choice. I also knew there were different severities of thalassemia. I had followed the blog of one family to adopt a beautiful little boy in China who has thalassemia and in China was receiving monthly transfusions (when there was funding and access). I remember thinking, “I could never handle that.” Oh how life changes. I remember in the summer of 2009 letting the waiting children coordinator for China know that we were now open to adopting a child with thalassemia minor, also called thalassemia trait. (We had been logged in NSN for China since March 2008.) On November 18, 2009, I saw our son’s photo on a waiting children’s list, with beta thalassemia listed beside it. Right away I remembered the family in the blog I had followed, and that their son had alpha thalassemia. Since that child had needed regular transfusions, I wrongly assumed that beta must be the more minor form of thalassemia, and I requested his file. By the next day when I realized that beta thalassemia major was in fact a very severe form of thalassemia and would require blood transfusions every 2-4 weeks for the rest of his life, I was already in love with him; I felt like I was meant to be his mom. He was listed with another agency (this was prior to shared list) and I spent the next couple of months, while we waited for his file to be transferred to our agency, learning all I could about thalassemia. Our local hematologist was wonderful, Cooley’s Anemia Foundation (CAF) offered great resources and information, but it was the information shared from parents who had chosen to adopt children from China (and other countries) who had thalassemia that helped me the most to see what it would really be like, and what I needed to be prepared for. I remember printing out their emails and sharing them with my husband. Knowing that other people had made the choice to adopt a child with thalassemia major, and were managing well, gave my husband and I confidence that we could meet our son’s medical needs. We’ve been home since April 2010 and we truly do find this to be a manageable condition for us. In fact, we are LID again and specifically will be looking for a child with thalassemia, including thalassemia major. (UPDATE: In late fall 2012, we found our daughter's file. She had been considered by several families who had chosen not to proceed to adopt her, due to the severity of her condition. Ironically, it was the severity of her condition, along with her sweet photos, which drew us to her. We wanted Aaron to have a sibling with the same medical condition. We traveled in August, 2013 to adopt her.)
Around the time that I found Aaron’s photo, I had joined a Yahoo group for families who had adopted children with thalassemia, were in the process of adopting children with thalassemia, or were considering it as a special need. At that time there were approximately 80 families in the group, only 5 of whom had children with beta thalassemia major. The group has grown and there are now approximately 25 families with children with that most severe form of thalassemia in the group, and additional ones waiting to travel to adopt their children. It seems as more and more children with thalassemia have been adopted from China, CCCWA has continued to add more children with thalassemia to the Shared List and agency designated lists. Each month when the latest Shared List comes out, I get 2-5 emails from prospective parents, inquiring about thalassemia. Most are in the situation I was in – staring at a photo and a file of a child they are falling in love with, and a medical condition they know very little about. I’ve decided to compile all the questions and answers I’ve answered in the past couple of years into one document. I hope the information I am going to share with you will be helpful to you. Whether you are interested in learning more about thalassemia to see if it is a medical condition you might add to your checklist for SN adoption, or are considering a child with thalassemia, or have recently discovered the child you are adopting or have just gotten home with has thalassemia, I hope you will find answers to some of your questions here. Please do not hesitate to contact me at nwalsh528@yahoo.com with any questions you might have. I am always happy to answer questions. I was in your shoes just a few years ago!
With my son’s form of thalassemia, beta thalassemia major, (which is the most severe form of thalassemia), the body is unable to produce hemoglobin which is a protein in red blood cells that carries oxygen throughout the body. Healthy red blood cells live for approximately 120 days, while red blood cells made by a person with thalassemia only live for 7 days, resulting in severe anemia. My son survives by receiving a transfusion of red blood cells every 21 days. Between transfusions he is a typical child. He has no limitations on his activities and no one would ever know he has a very serious medical condition. Each transfusion suppresses his bone marrow from attempting to produce the defective cells. That is the positive part of each transfusion. But, there is a negative aspect too; each transfusion brings iron into his body, which the body has no way to get rid of. Consequently, he must take a daily chelation medication 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 used to be typically around 20 years of age. The goal of daily chelation medication is to prevent iron overload in the organs. With the use of chelation medication (either Desferal which has been available since the 1970s, Exjade which became available in 2005, or Ferriprox which was FDA approved in 2011 for adults only), the belief by doctors is that life expectancy should greatly increase and hopefully be comparable to any other person without thalassemia. However, since Exjade it is a new medication and current thalassemia patients have not been on it for too long, the data is not in yet. Today, there are people living into their 40s and 50s with thalassemia. We take our son once a year for a special MRI called a ferrsican to determine the amount of iron in his liver (typically the first organ to collect iron) and that is what the dosage of his chelation medication is based on. In fact, our son came to us at age 3 in severe iron overload of his liver (based on ferriscan MRI results). Within 10 months on his chelation medication (Exjade), his iron level in his liver was down to a normal range for a transfused patient. One year after that (so 22 months on Exjade), his iron level was in a normal range for a non-transfused patient. He has responded to the chelation medication very, VERY well. So well in fact that we have reduced his dosage. He will always be on chelation medication, as he will always receive transfusions. However, iron overload is usually reversible in young children, which we found first-hand with our son. It is also often reversible in adults too! I also must mention that Exjade carries "black box warnings" for renal (kidney) issues and GI issues. We long for the day when safer oral chelators will be avaible. (Our daughter, Sarah, is transfused every 28 days and just recently started on Exjade.)
In my opinion, below are some of the things to really consider if you are thinking about adopting a child with thalassemia.
- Distance 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 4-6 hours. In addition, within 72 hours of the transfusion, your child would need to get some bloodwork done in preparation for the transfusion. That might be at the hospital where your child would be transfused, or at a lab facility.
- Ability to take time off from work to take your child for a transfusion – This would be every 3-4 weeks as a child (and every 2-3 weeks as a teenager/adult)? This will be forever.
- Support System – Relatives and/or friends who could take your child for a transfusion if you or your spouse (if married) cannot for some reason, or to help care for your other children while you take your child to the transfusion.
- Adequate health insurance? (There are some programs such as Katie Beckett Medicaid, based on disability, not income, but it is not available in all states to patients with thalassemia. Some states have programs such as Children With Special Health Needs that families may access. For both of these types of situations, you cannot apply until your child is in the U.S. and has a social security number.)
- Either a ferriscan MRI at your hospital, in your state, or at in a location that is convenient for you to take your child there once a year. (This is the test that then determines the patient’s chelation medication dosage. (You can check at this website for what states/hospitals have the MRI.
-Ability to bring your child to one of the 9 thalassemia treatment centers in the U.S. once a year for a special MRI called a ferriscan and a consultation with a thalassemia specialist, if needed/recommended.
The 9 thalassemia treatment centers are shown here:
I want to mention that we live in a small state. Our son is the only thalassemia patient at our hospital. (UPDATE: He WAS the only thalassemia patient. Now our daughter and son are the only TWO patients at our hospital with thalassemia.) And yet, I know from our visit to a thalassemia center, from referring to the 2012 Standards of Care Guidelines for Thalassemia published by the Children’s Hospital & Research Center Oakland California, by conversations with the patient relations manager at Cooley’s Anemia Foundation, and from talking to other parents with children with this condition that my son [and daughter] is getting the same level of care in our small state as he would at a major thalassemia center. You can get the Standards of Care Guidelines for Thalassemia that are published by Oakland Children’s Hospital in California to share with your local hematologist. Again, I want to say that you don’t have to live near some large special hospital. Any hospital with a pediatric hematology (or hematology/oncology) clinic/provider will do! You would just need to be able to get bloodwork and transfusions done, and have the provider prescribe the chelation medication.
Although there are many different forms and severities of thalassemia, I feel strongly that any family considering thalassemia as a special need or considering the file of a child with thalassemia, be prepared for the what would be considered the most severe, beta thalassemia major, or a similar form that requires transfusions regularly forever. Again, my advice would be to anyone considering a child with thalassemia (even if you believe the child may have just the trait/minor form), is be prepared for a transfusion dependent form of thalassemia. If when the child gets home, they do not need transfusions, great…but in my opinion, better to be prepared and have a hematology team ready to treat your child, than to get home and be emotionally floored to learn that your child has a transfusion dependent form. (Just my opinion.) Many of the children on the Shared list with thalassemia (also called Mediterranean Anemia) do have gene tests in their files. My son did. It was clear he had the major form, however, nowhere in his file was there any mention of being transfused. We assumed he was, and this was confirmed with an update closer to travel, but others have not had this confirmed until they were in China, or until they were home.
Questions and Answers:
These are questions I have compiled that families have asked me the past two years, when considering a child with thalassemia or just wanting to learn more about thalassemia. Please keep in mind I do not work in the medical field. I am simply a parent of a child with thalassemia. What follows below is my experience and the information I have gathered and come to understand. None of this should replace a thorough review of a child’s medical file by a physician, and the advice of a physician. It is information I hope you will find helpful.
Thalassemia – The Basics
Q: What is thalassemia? What type of doctor treats it?
A: A hematologist treats thalassemia. In most cases, it will be a hematologist/oncologist, although thalassemia is NOT a form of cancer. Thalassemia is a genetic condition in which the bone marrow does not create healthy red blood cells. In its more minor form, the red blood cells may be smaller in size, or less of them, causing the person to be slightly anemic (if anemic at all). In its most severe form, the bone marrow does not create functional red blood cells at all. This would cause the patient to be chronically anemic with no way to recover his/her hemoglobin levels. Those patients rely on donated blood, by receiving blood transfusions every 2-4 weeks to survive. (Transfusions are typically every 21-28 days as a child, and 14-21 days as an adult.)
Q. Can thalassemia be helped with iron supplements?
A. No. Thalassemia is not a form of anemia that is due to iron deficiency. In fact, people with transfusion- dependent thalassemia, often limit iron in their diets, as they already receive too much iron from each transfusion. (The body cannot get rid of excess iron on its own, and transfusion dependent patients need to take chelation medication to excrete as much iron from the body as possible.) People with thalassemia take multivitamins without iron.
Q: What is the difference between alpha and beta? Is one of them more severe than the other? What are the different types or forms of thalassemia?
There are both alpha and beta thalassemias (neither is more severe than the other, with the exception of alpha thalassemia minor – which can cause stillbirth. You would not be looking at a file of a child in China who has this form.). Alpha and beta are two different globin (protein) chains. It is not having ALPHA thalassemia or BETA thalassemia that makes a form of thalassemia more severe than another, but rather the mutation/deletion of the gene.
Alpha Thalassemias
-There are 4 alpha globin genes, located on chromosome # 16.
-1 gene missing/abnormal = silent carrier - not going to show up on typical "bloodwork" but can pass it to a child (and if partner also has same carrier gene, they have a 1 in 4 chance with every pregnancy of having a fetus with alpha major, which can cause stillbirth.
2 genes missing/abnormal = minor/trait - The red blood cells would be smaller than normal, and the person would be slightly anemic. As with silent carrier, when of childbearing years, partner would be tested to see if he/she has the same form of thalassemia.
3 Hemoglobin H (a form of alpha intermedia, another form is Constant Springs) These may or may not require transfusions. Or may not require as a child, but may need them when older.
4 missing/abnormal - major (This would not be the case with an orphan from China. In cases of alpha major, the fetus almost always does not survive to be born. The exception would be if it was detected during the pregnancy and the fetus received transfusions. Then I believe, but am not positive, that the patient would be essentially treated similarly to a patient with beta thalassemia major.)
Beta Thalassemias
-There are 2 beta globin genes. (One on each chromosome 11.)
- 1 missing/abnormal gene is known as carrier/trait. It might also be called beta thalassemia minor. People with this could have smaller than usual red blood cells and be anemic. However, usually people with trait do not have any symptoms at all. (Example: Tennis star Pete Sampras has this form of thalassemia.) When a person is of childbearing years, if desiring a biological child, the person’s partner would need to undergo genetic testing to determine if he/she also had beta trait/carrier. If so, they would have a 1 in 4 chance of having a child with beta thalassemia major WITH EVERY PREGNANCY.
- 2 missing/abnormal genes is known as beta thalassemia major. It is also known as Cooley's Anemia. This is the most severe form of thalassemia. The bone marrow is unable to produce functional red blood cells. Patients live off the hemoglobin on the red blood cells from blood transfusions (every 2-4 weeks for life, and daily chelation medication).
- Also, Beta thalassemia intermedia may also occur when both of the beta globin genes are mutated, but the mutations are less severe than those that typically cause beta thalassemia major. HOWEVER, beta thalassemia intermedia is also a serious and chronic condition. While regular transfusions are necessary for beta thalassemia major, with intermedia there is a balancing act of sorts in trying to weigh the risks of transfusions (excess iron, need for chelation) with the reality of low hemoglobin.
Adopting a Child from China with Thalassemia:
Q: How does China lists thalassemia children? Are gene tests from China accurate? If my child has never had a transfusion in China should I assume he/she does not have a type of thalassemia that requires regular transfusions?
A: China may list thalassemia as: thalassemia, a thalassemia, alpha thalassemia, b thalassemia, beta thalassemia, or b or beta followed by the word thalassanemia, Mediterranean Anemia (and that label does not mean it's alpha or beta, could be either). Sometimes it might just say "anemia" and then you'd want to ask: has the child ever had a transfusion? has there been a gene test for thalassemia? I did see one file recently that said "Cooley's Anemia" and that is another name for beta thal major. That term is not normally used in China, but was probably the English translation of the file.
You need to realize that as is the case with all adoptions from China, there is no way to know if the medical information in the file is correct. Diagnosis confirmation would be made once the child was in the U.S., in the form of a gene test. There are many times when a child is listed as having a certain type of thalassemia, is adopted, comes to the U.S. and in fact has that form. There are cases where a child is listed as receiving monthly transfusions, is adopted, gets to the U.S. and does not have that form of thalassemia. (Example: child listed with beta thalassemia major with transfusions every month in China, but comes home and gene test shows alpha thalassemia Hemoglobin H/Constant Springs and in 2 years has only been transfused a handful of times, usually after fever/illness caused the hemoglobin to drop and body is not able to recover enough and needs a transfusions). Those instances are not common but have happened. I do know of a few families who adopted children with alpha thalassemia who were being transfused monthly, but upon adoption and getting to the U.S. and beginning treatment, spleens were evaluated, removed, and since then they have not needed transfusions. Now that is not to say they won’t need them as they get older, but for now they do not need them. That is also not to say that removing the spleen (more on that later) will solve the need for transfusions. (It will NOT solve the need for transfusions for beta thalassemia major.) I am aware of many families (10+) who went to China to adopt a child they believed had a minor form of thalassemia and was not being transfused, only to get to China or get home and learn this information was not correct. Perhaps the child was not being transfused because there was not the money or access to blood, or there was not access to have a gene test done on the child, or many other reasons. So I really feel it is important to go into the adoption of a child with thalassemia, prepared for a transfusion dependent form. (Thinking, “We believe our child will have minor/trait but if he/she really has a transfusion dependent form, we are confident we will be able to manage that care for our child.”)
Q: I’ve been hearing about a blood shortage in China. What impact would this have on a child waiting in China?
A: Right now in 2012 there is an “acute” blood shortage in China. Many children are not being transfused as well as they were before the shortage.
Families need an agency willing and able to help them expedite the adoption. A letter from a hematologist can help the USCIS, as can contacting your U.S. senator. Someone in our thalassemia support group has the name and address for a person in the CCCWA who has helped expedite the China side of some adoptions. (I know a family who submitted LOI in January and was in China in April to adopt. It IS possible!)
A family would want to get updates on the child about their hemoglobin level and if they are able to be transfused.
Some children are being turned away from the hospitals without being transfused. Some are not being allowed to get a transfusion unless a family member can donate blood to replenish the blood supply. It is possible to find people in China (students, etc.) to donate blood to replenish the blood supply on behalf of the orphan, so he/she can get a transfusion.
Q: Are children in China being chelated?
A: Many are. However, it is with inferior methods than in the U.S. Often it is with IV desferal only during a transfusion or 3 -5 days per month (in the U.S. that would be per week…). Some are being treated with Ferriprox, which is not FDA approved in the U.S. for children.
Q: What if we got to China and thought our child needed to be transfused? What would we do?
A: You can go to the Garden Hotel to the CanAm Clinic and request (without a doctor’s orders) to have the child’s hemoglobin checked. If your hematologist at home says based on that level your child should be transfused, your guide would need to assist you to get a transfusion in Guangzhou. There have been a few families who have done this, and would be able to offer advice.
Transfusions:
Q: How long does a transfusion take? Where are transfusions given?
A: A transfusion typically takes about 4 hours as an outpatient. The actual length of time at the hospital may be from 4-7 hours, depending on a few factors. (If the child needs to be pretreated with Benadryl or Tylenol. If the family has already done the bloodwork (type and screen) ahead of time or if it needs to be done when they arrive at the hospital. In the case of doing it all in one day, there is normally a 2-4 hour wait for the blood to be ordered and prepared.) We do the bloodwork (type and screen) within 72 hours of the transfusion, so when we arrive at the hospital, the transfusion is able to begin within 15 minutes and the transfusion itself takes 3 ½ hours for our son.
Transfusions are typically given at a hospital where there is a pediatric infusion bay. Children there may be receiving platelets, red blood cells, chemotherapy, or other infusions. You would have to check with your hematologist to see where transfusions would be given.
Q. Does the child have to lie still during the transfusion? What can he/she do? Are the transfusions difficult for your son?
A. Once the IV line is in place, a child does not need to remain still. He/She may do art projects, walk around, play Wii, watch videos, play games, read books, eat, drink, nap, etc. Transfusion days are some of the "best" days for our son. He loves his nurses and doctor. He enjoys lots of snacks, pudding, a dvd, games, books, art projects, 1:1 time with mom. He still naps so often he will sleep for about 90 min. and I will read a book.
Q: Is the transfusion schedule at all flexible? For example, if the family had to be out of town or the child was going to sleep-away camp during the normally scheduled transfusion day, could it be moved forward or back by a couple of days?
A. YES! We went to Disney for 10 days. It was only 2 weeks after a transfusion. Our son is normally transfused every 3 weeks. So we would be in Disney when he was due. The hematologist offered to have him transfused early. 2 days before we left, Aaron was transfused. They just gave him a little less blood (it's all based on his weight and his hemoglobin at the time.) In the past two years this has happened for us several times.
Q: How does a family know it is time for a transfusion?
A: Some people are scheduled on a regular basis (example, every 3 weeks or every 4 weeks). This is mentioned in the 2012 Standards of Care Guidelines for Thalassemia, as being important for quality of life. Other patients schedule transfusions based on hemoglobin level a day or two before the transfusion. (The general range where a patient would fall and be considered needing a transfusion would be hemoglobin level of 9-10. Although please note, sometimes patients are transfused when they fall a little lower, say in the mid to high 8s, especially if there is quite a bit of iron overload and they are trying to ‘stretch’ the transfusions out to longer intervals, say 4 weeks vs. 3 weeks. Others are transfused even when they are in the low to mid 10s.)
Q: Could some patients have an unusual blood type which may limit his ability to get blood? Is it possible to be allergic to blood products? What happens then?
It is most important that the blood be exactly matched. This is not the same as if you or I were in a car accident and needed a transfusion - they just match our blood type (A, B, AB, O). But for chonic/routine transfusions , patients may develop antibodies, so the doctors need to phenotypically match the blood. Patients can develop antibodies to blood. I do know of a child who is allergic to blood, and needs to have Benadryl during transfusions to prevent reactions.
Q: Is there anything that can make hemoglobin drop faster than usual?
A: Yes. Sometimes when a person has a high fever (often for more than 1 or 2 days), his/her hemoglobin can drop faster than usual. If the child was already near needing a transfusion, he/she might fall into a lower than optimal range and need to be transfused soon. If your child has a fever he/she can have his/her hemoglobin checked early.
Q: Are there any warning signs that hemoglobin has dropped or is dropping?
A: We have never seen these in our child, in the 2 ½ years he has been with us, but we were told an emergency situation with hemoglobin could include shortness of breath and/or extreme fatigue.
We do notice our son is paler than usual in the days leading up to his transfusion, especially his lips. Sometimes he seems more irritable/whinier than usual.
Chelation:
Q: What is chelation? What medications are used?
A: Chelation is removing excess iron from the body. Chelation medications bind to the extra electrons in the iron and it is excreted from the body. The purpose is to prevent it from depositing in major organs (and to reverse iron overload in patients who already have iron overload).
Desferal is a chelation medication that is administered through an infusion pump, with a needle inserted beneath the skin into the fatty, or subcutaneous tissue, of the abdomen or thigh. It is used 12 hours per day or night for at least 5 days. It has been available since the 1980s.
Exjade is an oral chelator. It has been available since 2005. It is mixed with about 3-4 ounces of liquid (orange juice, apple juice, water), stirred and then the patient drinks it.
There is another oral chelator called Ferriprox, that was recently FDA approved in the U.S. It is not approved for children. It can cause white blood cell levels to be reduced quickly, leaving the body unable to fight infections and due to this the patient needs to be monitored carefully. (It is used in some parts of China on children.)
Q. What would prevent a child from taking an oral chelator as opposed to relying on the intravenous pump?
Some people may have an allergic reaction (hives/rash), or stomach upset/diarrhea. I had heard it was recommended to split the dose into two doses when starting Exjade, or when increasing dosage. So that's what I did. Instead of 250 mg once a day, we did 125 twice a day. My son did get 3-5 days of loose stools each time there was a new dosage change, but then no issues after those first few days. Patients on Exjade have bloodwork reguarly (every 3-4 weeks) to check renal function (BUN, Creatinine), as there have been documented issues with Exjade and renal function - I think it was mostly in older patients who had other health issues. Other things are monitored regularly while on Exjade or desferal (liver function, hearing, vision). The hearing and vision is more if the iron levels were low in the body but the chelation medication dosage was high, and the medication would not have iron to bind to and might impact other tissues. (We were told the vision and hearing loss, if it occurs, is reversible when the patient discontinues the medication, or dosage is reduced.)
Q. Do you know how painful the use of the pump is if needed, how it affects a child's activities or how difficult it is to administer at home?
A. We have not used the pump, but others have and I can put you in touch with them if you go that route. I would think that it would become just another part of the child’s life… I was hoping to not have to us the pump, especially with bonding/attachment when first home, and luckily we have had no issues with Exjade. There are people in my support group who have used it. It's supposed to be 12 hours, 5 times a week, and most people do it 6pm -6am or 7pm-7am so it's at night - doesn't need to be worn to school. Just as with Exjade, careful monitoring needs to happen to track kidney and liver function, while on desferal. And just like with Exjade, some patients do not tolerate it (rash, hives).
Other Specialists, Visits, Tests, Monitoring
Q: Besides transfusions and chelation medication, are there other parts of treatment? Are there other doctor appointments? Tests?
A: Yes. An endocrinologist is an integral part of the patient’s care. This is to track growth, and monitor function of major organs (pancreas, thyroid, adrenal, liver, pituitary, etc.). This is because if a patient is not properly chelated and excess iron deposits in those organs, there can be organ function issues (diabetes, hypothyroidism, etc.). My son sees his endocrinologist every six months, but others I know do this every 12 months. Also a bone age x-ray is usually done every so often to monitor growth. Patients who have been chronically anemic may have some growth issues and it needs to be monitored to see if they will begin puberty around the same time as their peers. Some patients do need growth hormone injections to trigger puberty. This is not always necessary.
Also, annual audiology testing, annual opthamology/vision exam, annual ferriscan MRI to determine iron levels in the liver and this determines the dosage of the chelation medication.
Daily Life
Q. Are there any physical restrictions for children with Thalassemia or can they regulate their activity levels themselves based upon how they are feeling?
A: Nope. My pediatrician wrote on my son’s medical/physical form: "Beta thalassemia major, but no limitations on activity between transfusions." Our hematologist feels strongly that my son needs to be treated as any other typical child. I feel he has a medical condition he needs to learn to live with, and needs to know it's just part of who he is - like other kids have asthma and need help to breathe sometimes, etc.
If a child has had their spleen removed, there are things that go along with that such as low dose antibiotic.
If a child has a port for IV access, there would be things that go along with that, such as needing to have the child evaluated for a fever, since there is a foreign object in the body which can be an infection site.
Q: Is your son prone to getting sick easily, or in other words how does it affect his immune system?
A: Nope. Not at all. He has had two typical colds in 2 years. Just last week he took his first antibiotic ever, for an abscessed tooth. Besides well child visits, he's been to the pediatrician 3 times - to have his ears irrigated as they were full of wax when we adopted him and he failed his hearing test; in response to a high fever and he was not yet fully immunized and they wanted to see him, and just two weeks ago when he developed a rash (likely heat rash that then developed into a fungal thing and needed OTC lotion). I think this probably all has to do with having been in the SWI for 3 years and exposed to lots of germs already, but our doctors all told us to be prepared for him to be sick a lot as he came in contact with "North American viruses" (not due to thal, just being new to America) but that was not the case. (He never missed a day of preschool due to illness!) Infection is the #2 cause of death for thalassemia patients. Some patients with thalassemia are more prone to infections. Fevers need to be monitored carefully. Thalassemia patients without a spleen may need to take antibiotics as prophylaxis.
Q: Is your son on medication and are there any side effects from the meds?
A: He takes a multivitamin (without iron), folic acid 1 mg (thalassemia patients lack folate), Vitamin E 400 IU (supposed to help with heart health/red blood cell health)
And then Exjade, forever. That is to rid his body of the iron from the transfusions so it does not accumulate in his organs. He came to us with severe iron overload. On his first MRI he was 17.4 which is in a severe range. 10 months later he was 4.1 which is a normal range for properly chelated people who get transfusions, and this year, one more year later, he was 2.1 (normal for you or me!) and we had to reduce his Exjade. When we started Exjade, once he was here, we did 125 mg for two weeks, then 250 mg for two weeks, then 375 for two weeks, and then 500 (and the first two weeks of that I did 250 twice a day). Every time there was an increase, he had loose bowel movements for 2-3 days but did not have diarrhea or accidents. No other symptoms ever.
Complications and Life Expectancy:
Q. Even with compliance to a transfusion schedule and chelation, how likely are serious complications with this disease? I know there are always risks to medical conditions, but are they common with Beta Thalassemia major?
If someone who is transfused regularly has a high fever, hemoglobin may drop faster than usual. So, if our son were to be due in a week for a transfusion, but was sick with a high fever, I'd take him in for his hemoglobin to be checked (just a quick fingerprick at the ped. office) to see if it was okay, or if he needed to be transfused sooner. In many cases, patients with thalassemia need to be admitted to the hospital for IV antibiotics for fevers over. Their hemoglobin would be carefully monitored also, as they might need a transfusion sooner than their usual schedule.
With regular transfusions (then bone marrow is suppressed and spleen does not need to work overtime breaking down defective cells) and chelation (then iron is not depositing in organs like heart, pancreas) serious complications should be avoided. If a person were not being chelated or not being chelated well, the leading cause of death is heart failure, and another issue would be diabetes (deposits in pancreas could alter function). This is why it is so important that the functions of the major organs are being monitored carefully.
Q: On the Internet many sites indicate life expectancy is around age 20. Is that still current, or outdated?
A. With compliance with chelation, it should be a lifespan comparable to the average person. 20 years is outdated, or may include other countries besides the U.S. In the U.S. with desferal pump chelation (12 hours each night, 5 nights a week, but have been compliance issues especially with teens/young adults) - well those individuals are in their 20s, 30s, 40s. And some of them did not start chelating until they were older teens. Desferal is the gold standard and if a patient is compliant with it, one can also lead a healthy life. In countries where life expectancy is short, many patients cannot get safe blood, regular transfusions, and chelation may not be available.
The belief is that with desferal or Exjade life expectancy should be the same as any other person, but it's our kids on it now that will show that. People who did not start on desferal until their teen years are now living in their 30s and 40s. There are people in their 50s and even 60s. Since desferal became available in the 1970s, adults are now the first generation of people who survived. Now with Exjade, an easier form of chelation to administer, people are expected to be more compliant with chelation, and this should improve life expectancy.
Compliance with transfusions and chelation is the most important thing.
When I was really focused on this, our pediatrician nicely reminded me that no child, not even my biological son has a guaranteed life expectancy. Children develop cancer and die, die of asthma or life threatening allergies, or accidents...
Other Topics:
Q: Why do some children have ports?
A: If accessing their veins is very difficult, a port may be recommended. This will allow a sure way in to the vein each transfusion. The area can also be numbed with Emla cream, making the IV “stick” painless. Having a port put in is a surgical procedure with anesthesia. It is a foreign object in one’s body, so fever would require the person to be examined and usually IV antibiotics. Also, they often do need to be changed as a child grows (so additional surgeries) and they can also displace. It is important to note that if a port is put in for a child who has veins that are not easy to access, as the child grows and the muscles and veins become more pronounced, if IV access is attempted and more successful, the port may be removed. Our physician assistant worked with teenagers with thalassemia and many had made it through their childhoods with regular vein access. A port is something you consider if necessary.
Q: Why would some patients have their spleens removed?
A: Our son has not had any issues with his spleen. Many children come out of China with enlarged spleens. When someone is not transfused well, the bone marrow is not suppressed, and it makes the defective red blood cells. This makes the spleen work too hard to break them down. This can cause the enlargement. In many cases, with proper transfusions, the spleens will shrink to normal size and not be an issue. Sometimes the spleen is removed (I’ve heard of this more with thalassemia intermedia, and then having a result of the patient no longer needing to be transfused, or being transfused less often.) Sometimes only part of the spleen is removed, and then the patient does not have to be on antibiotics to prevent infections.
Q: What about a cure? Could gene therapy help these kids? What about a bone marrow transplant?
A: I feel very strongly that no one should go into the adoption of a child with thalassemia, believing they will be able to “cure” the child. This is a condition that can be managed. In the U.S., even Cooley’s Anemia Foundation does not recommend bone marrow transplants. This is different in other countries, where there is not a safe and adequate blood supply; where there is not the availability of chelation medication; where the care of thalassemia patients is so inferior that they have little hope at a typical life. Bone marrow transplants are attempted, and some successful. This is normally from a perfectly matched sibling. I feel so fortunate that my local hematologist was honest with me when he first met with me to discuss our son’s file, as we tried to learn about the condition and what treatment would be like, and if they could meet his need at our local hospital in our small state. He told me that a bone marrow transplant was not an option for our son. He explained the dangers of host versus graft disease, and that it could essentially be trading one medical condition for another. He talked about the unavailability of a perfect sibling match. I left that meeting with the understanding we would not attempt to “cure” our child; we would treat his condition, with transfusions and chelation and teach our son that this was a condition that could be managed. (Around the same time we adopted our son, another family adopted a little girl. Their local hospital counseled them to have her undergo a bone marrow transplant from an unrelated donor. I read on their blog how they longed to “cure” her and how wonderful it would be for her to be “transfusion free.” They attempted the bone marrow transplant. She died approximately 100 days later from host versus graft disease. I often think of that family and know they would give anything to have their daughter back, taking her for blood transfusions every 3-4 weeks….)
Gene therapy is a promising and frustrating area of science research. Scientists continue to try to figure out how to turn on fetal hemoglobin in beta thalassemia major patients….but so far have not. There are clinical trials starting at Dana Farber (2012). Gene therapy may be a reality in our children’s lifetime, or in their children’s lifetime.
Resources:
Q: Are there resources for prospective parents or parents of children with thalassemia to find out more information?
A: YES!
- Yahoo Group for Adopting Thalassemia
http://groups.yahoo.com/group/adoptingthalassemia/
- Cooley’s Anemia Foundation – Eileen Scott is the Patient Services Manager and is an excellent resource.
http://www.thalassemia.org/
- Children’s Hospital Oakland Thalassemia Center (California). You may access the 2012 Standards of Care from that website and also print them. You may also request a copy of it mailed to you.
http://www.thalassemia.com/
Our Experience Parenting a Child with Thalassemia Major:
Q: What was most difficult about this condition and adopting your son?
A: Actually, the most difficult aspect had nothing to do with his medical condition. It did take us a few months to get into a routine with bloodwork, transfusions, etc. There were many appointments those first two months to get baselines for him. (There was bloodwork, immunization titres, audiology testing, eye exam, bone age x-ray, fasting bloodwork and consultation with an endocrinologist, a trip to Boston for a consultation at their thalassemia treatment center and a Ferriscan MRI.) We now spread those appointments out over spring break and summer vacation and it seems so much more manageable for us, compared to those first couple months home. There is so much else going on then – jet lag for about two weeks, language barrier, and the dynamics of the new family. Now those medical pieces seem much more manageable than when first home. We had no issues with Aaron drinking his orange juice with his Exjade in it. He had not had juice in China so it was a treat for him. He would drink it down in 1 minute or less. (Some families have opted to give a small treat like a piece of candy afterwards, and we would have had he had difficulty with taking it.)
For us, the most difficult aspects of adopting Aaron had to do with SEVERE motion sickness (vomiting on basically every car ride, even just 5 minutes from home) and some eating issues (likely related to having been institutionalized and not having developed an understanding of the feelings of hunger/fullness).
Q: You said it has been a manageable condition for your family. Why do you think that is? Do you have any suggestions for how to know if it would be manageable for us? Do you think it is only a condition if the mom is a SAHM?
I stayed home for a year with our son Aaron. Now I'm back at work (teacher) and he's in preschool 3 mornings a week. We schedule his tranfusions at 12:00 or 12:30 so I can teach a 1/2 day (and he will be able to go to school a 1/2 day). This is every 3 weeks for him. We go to a nearby lab (5 min. from our house) within 72 hours of when he will be transfused (we go in the evening usually) and then the blood is ready within 10-15 minutes of us arriving at the hospital (which is about 15 min. from us). There are no extra doctor appointments with his hematologist as he sees Aaron during the transfusion for an exam and to answer questions. Our endocrinologist orders bloodwork every 6 months and then comes in during a transfusion to see Aaron and go over the results.
I do not believe someone needs to be a stay at home mom to parent a child with thalassemia major. But you do need a flexible enough schedule for at least one parent to take the child to transfusions. A good support system is helpful (to help care for other children, take child to a transfusion in the event you cannot). I think living at a convenient distance to the hospital is important too. It all comes down to a very personal decision based on your own situation. Having said that, prior to seeing my son’s photo in November 2009, I NEVER would have thought we would find this to be a manageable condition!
Q. Does insurance usually cover the cost of treatments? I know each plan is different, but I'm wondering the approximate cost of caring for a child with this condition.
A. It’s going to depend on your policy/coverage. With our insurance, we pay nothing for lab work, x-rays, MRIs, transfusions, and blood. We pay a small copay for each transfusion appointment IF Aaron is examined by his doctor at that visit. We did need prior approval for his gene test (deemed “investigational” and needed a letter from he doctor) and for his MRI (approval needed for all MRIs with my policy) and for our consultation in Boston the first year home.
With regards to Exjade, it is expensive. (I see the retail price on our invoice of about $2,000 for a 30 day supply!) For us,with our insurance, it would be $40 per month. BUT through the manufacturer (Norvartis) and the specialty pharmacy we were assigned, we got assistance called ScriptAssist(did not have to fill out any income forms or anything) and they cover up to $100 per month, so we pay nothing.
Q: If your child is old enough for school, how do you handle the absentees and make up work?
He's only in preschool, but I'm a teacher so I know a bit about this too. We will try to schedule in the afternoons so he misses a 1/2 day, not a full day. (Some hospitals in big cities transfuse on evenings and weekends!) Since this is an excused absence for a medical reason, it should not be counted towards any type of unexcused absences. In our district, because it is an excused absence, the school is required to provide work he misses and allow him to make it up. I'll be asking for it ahead of time and he can work on it the night before, or during the transfusion. In the future, with WiFi (currently our hospital has) and a webcam, he should be able to "be" in class if he chooses to. Our hematologist said he will write letter explaining that our son will be missing school and why. This way it is all known up front. A school might want to write a health care plan of some sort to have all this on record.
Q: Was parenting a child with this need what you had expected or were there some things that surprised you? What do you consider the most difficult part of adopting your son and parenting a child with this need?
We thought Aaron would be weak and tired. He is not; he runs circles around all of us, including our biological son who is the same age with no health issues!
I thought the thalassemia and the transfusions would dictate our lives. They do not. I worried I would view Aaron as a "sick kid." I rarely think about his thalassemia. I look at the calendar to see when we need to go to the lab and for a transfusion. I mix his Exjade in orange juice each day after nap, and day to day, I don't "think" about it. I have become quite active in various groups about thalassemia, and I am always looking at these kids on the Shared List or agency lists and feel a connection. I guess because it's a need we find manageable and I realize that in China, life expectancy would be maybe teen years (and right now with the blood shortage there, likely not even that long). In fact in Guangxi Province in China, the statistic in 2007 (before the blood shortage) was that 80% of children with transfusion dependent thalassemia would die before age 5. ("Current status of thalassemia in minority populations in Guangxi, China" study published in the "Clinical Genetics" journal in May 2007). In the U.S. with proper care, they have a chance at a “regular” life!
Opening our minds and hearts to thalassemia, allowed us to find our son. And I believe it will also lead us to our daughter in the next couple of years. (It did!!!)
Please feel free to contact me with any questions you might have!
Nicole Walsh
August 2012
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