New to Thal Major - lots of questions

Hello to all!  My wife and I just discovered this wonderful forum and have some questions for you all.  My wife posted this on another forum as well, so I thought I'd just ask it here too.  This seems like it is one of the more active Thal forums. 

Thank you in advance for your time!

Jeremy

My husband and I are considering the adoption of a little girl from SE Asia who is Beta Thal Major. A year ago we adopted a little boy whose birthmother was Thal Trait but our son did not inherit any form of thal. For some reason God keeps putting these children in our hearts! We would adopt this little girl without question if we had no other children but we have 2 young boys and worry about how the needs of this child will affect our ability to meet the needs of our other children. I hope no one is offended by this - we know that all children come with risks and our other children are not "perfect" either (just "perfect" for us!) but we want to make sure that we are capable of giving her what she deserves.

I want to know what the day-to-day looks like for a person with Thal Major. Other than transfusions and chleation treatments, how much medical care is needed? Are there frequent hospitalizations? How long does it take to complete a transfusion? I'm sorry if these are ignorant questions - we are really at the beginning stages of research and I'm just trying to gather a clearer picture of what our lives would look like. I welcome any input or information anyone can give me.


Also...

More questions as we are still considering the adoption of this Thal Major little girl. I know there are a lot of options when it comes to chelation so there isn't one easy answer, but many of the resources I find state that it is "painful." I think one of the hardest parts of this decision for my husband is knowing that we will have to watch our child experiencing pain. Can you tell me what exactly is painful? Is it the port or the site or it is it the actual process? Sorry if this is dumb but we have never seen anyone with a pump or catheter or seen the process occur. Also, can you tell me about the transfusion process - I understand that it takes several hours depending on the amount being transfused but are you able to move during that time? Do they sedate babies? This little one would be about 1.5 yrs when we receive her. Also, (we will have her file reviewed by a physician so I'll ask the same questions then) but should we be concerned that she is 6 months old now and already receiving transfusions? Most families I read about have children who don't receive transfusions until they are over a year. Is this an indication of the severity of her condition?


Thank you for all the support and listening to all our questions.

Jeremy and Diana

Hi Jeremy and Diana,

I'll leave some of these questions for the parents in the group to answer but I can answer a couple.

Chelation has changed. While many patients are still using desferal, which requires a needle to administer over 10-12 hours, many patients have now switched to the oral chelator, Exjade. In the US, Exjade is approved for ages 2 and up. It is a once a day oral medication that is mixed with water or juice and drank. It has made life much easier for thalassemia patients and has made it much easier to have a normal life.

Early transfusion is becoming the norm with patients, as it has been found best to not delay so that development goes at a normal pace right from infancy. In the past, transfusions were often delayed until the hemoglobin dropped below 7-8, but now it is believed that it is to the child's advantage to start earlier and maintain the Hb above 10.

There is regular monitoring that needs to be done for all patients but for the most part, this consists of checkups, blood tests and the occasional scan to check for heart function and iron loading. Treatment has advanced greatly over the past 30 years, so please do not be frightened by anything you read from outdated sources. The prognosis for patients born today is far better than it was before the age of chelation, and the earlier treatment begins, the better the ultimate outcome will be. Today, there are patients who are in their 50's and they did not have the treatment that is available today while they were young, and in fact, chelation didn't even exist when they were young. Patients today have a bright outlook and future developments in treatment and even a cure, will only continue to improve life for thalassemics. In the US, there are even comprehensive care centers for thalassemia, located around the country, where an annual visit can provide both the total monitoring needed, and also create a treatment program based on each child's specific needs.

 It does require more dedication than raising a non-thal child, but it shouldn't take anything away from your other children. In many ways, it is a positive for the other children as long as they are taught to embrace and not resent the new child, but this is true in all adoptions.

I'd like to hear from some of the other parents and what their view is of raising both thal and non-thal children.

Andy,

Thanks SO much for your reply.  It was wonderful to hear your positive outlook on raising a thal child.  Like you said, I would love to hear from other families too. 

We understand that this is going to be different than raising a non-thal child, but we are feeling very positive about it.  From all we've read, it really seems that it's all about what you make of it. 

Thanks again and I look forward to hearing some more responses!

Jeremy (and Diana)

PS.  We are still wondering why some articles describe the chelation process (using desferal) as painful.  Is it actually painful having the stuff injected or is it just uncomfortable being hooked up to the machine, or just a plain 'ol inconvenience? 

Desferal is painful in that it requires a needle to be inserted under the skin, usually in the abdomen or thigh and left for long periods. The desferal itself, can also cause irritation at the injection site and a lump after long term use. Imagine sticking a needle under your skin 5 nights a week and you will have some idea why it is considered painful. It has been a necessary evil for patients and a big reason many patients have not fully complied with treatment, especially as they get older and more involved socially. Most kids don't want to have to be pumping desferal when they're out with their friends. Oral chelation provides the potential for much higher chelation compliance and the resulting benefits in terms of good health.

Thank you for the clarification, Andy.  I didn't know if the pain was from the obvious repeated needle pokes or something more. 

A couple more questions for you then (if you don't mind)! 

1.  I've read that most people chelate for 8-10 hours per night.  What if you don't sleep that long as you get older?  You just start before bed?  Chelate less?

2.  I've also read about a portacath.  Is that commonly used?  It SEEMS that it would be a good alternative to getting poked every night, but then again, you'd have to have the portacath inserted and in all the time.  Do you know anything about them?  Is that a good idea?  For kids too?

J

In reality, many patients do chelate less with desferal as they get older, and this is a big cause of complications in patients in their teens and twenties. It is so easy to brush off chelation when you have an active life. This is why oral chelators give such a huge advantage to patients. It does not disrupt life at all to take something orally once per day. This is actually something that needs a much closer look in many countries where desferal is paid for but Exjade is not due to its higher cost. Better compliance rates will mean fewer complications and lower long term health costs. We have Exjade users in this group with very low ferritin levels, so long term use has been proven to be effective in controlling iron load in patients.

Some patients do use ports but it is a controversial subject. Ports can and will become infected in most patients at some point and often need to be replaced after some years use. A recent thread along with a link to a previous thread about ports can be seen at
http://www.thalassemiapatientsandfriends.com/index.php?topic=1890.0

If oral chelation is chosen, a port will only be necessary for patients whose veins prove unsuitable for long term transfusion therapy. With most patients, veins can be found by good nurses and a port isn't needed. However, like most technology, doctors are very big on ports and sometimes downplay the negatives.

Andy,

Thanks again for the information.  Wow!  There is just so much to learn about Thal. 

I get the feeling that you are a big proponent of Exjade.  I've read mixed results from its use.  It seems like maybe it works well for some, but not for others.  Would that be accurate?  Is it just one of those things you have to try and see if it will be able to maintain your levels successfully? 

Also, it seems to me that one of the big things about Exjade is the ease and, therefore, compliance with taking Exjade.  I've read from many people that Desferal is the most effective at chelating.  So, could one use Desferal once a week and Exjade the other days?  Can you mix-n-match? 

J

There are some doctors in the US who are using Exjade and desferal in combination, even though it hasn't been officially approved. One of these doctors is the eminent Dr Elliot Vichinsky of Oakland Children's Hospital. He is recognized worldwide as one of the top thalassemia experts, both in practice and research.

 I am actually a big proponent of choice in chelation. Unfortunately, the best chelator in terms of lowering cardiac iron and protecting the heart, is not approved in the US and can only be obtained through a special program. This is the drug, deferiprone (L1, kelfer, ferriprox). Since no chelator is ideal for all patients, I believe that all three chelators should be readily available. The reason I do emphasize Exjade is because there is no doubt that an easy to use chelator will result in a much higher compliance rate long term.

As far as Exjade not working for some patients, this is primarily due to patients and doctors not having patience. While, as with all chelators, there are some patients who cannot tolerate it, most patients will find exjade to be an effective chelator if they use it for a long enough period and also use it at the necessary dosage for their iron load.  Exjade can take some time to show results in ferritin tests and often it is a year before patients see a downward trend. Patients may even see a rise in ferritin levels when first starting Exjade. There are two main reasons for this. First, there are side effects in most patients when they first start Exjade, so many patients do not start out on the optimum dose but instead, slowly increase the dosage until it is at the desired level. Second, patients with iron overload will take longer to show good results. While Exjade is reducing tissue iron, this may not be seen in ferritin results initially, but as time passes and tissue iron is reduced, patients do see a reduction in ferritin levels. One person I know took Exjade for a year, only to see her ferritin levels double. All the time, her doctor told her to be patient. Now, after a second year of use, her ferritin has dropped below where it was when she first started Exjade. Doctors should always familiarize themselves with the current dosing recommendations, as can be found in the document at
http://www.thalassemiapatientsandfriends.com/index.php?topic=1928.msg16165#msg16165 Updated Prescribing Information for Exjade

Hi Jeremy and Diana,

Welcome on the forum  it's very kind of you to consider adopting a child with B Thal major.

I'll try to answer your questions as a parent,it's a bit difficult as english in not my primary language so i feel like i leave so much unsaid.

Normal daily life is not much different for thal majors,if you are taking good care,have knowledge about supplementation,blood you transfuse is properly screened,and if you are compliant to chelation,and if you are maintaining proper pre transfusion hb levels.
These are the necessary precautions you have to take,apart from that i don't think there is any need of hospitalization,unless the child gets very sick or have some problems,it's been 4 years my daughter started transfusing ,and i don't remember going to hospital apart from the transfusion visits.she is Thanks to God doing well,looks and behaves like a healthy and normal child,is a brilliant student,and won the first position in sports in her school last year ( you can see her pics in the gallery ).

I hope this helps,and if you have any other questions in mind,feel free to ask.

ZAINI.

Zaini,

Thanks so much for taking the time to respond to my questions.  It was great to hear from someone with a thal child.  Sound like you have quite a wonderful kid on your hands!  How awesome!




I called Dr. Thompson in Chicago today and spoke to her about the little girl we are thinking of adopting.  She was VERY nice and answered all of my questions.  She really made me feel at peace about the whole situation. 

Tomorrow or Friday my wife and I will be receiving the file on the baby girl and will have a lot more information to work with.  We are very excited to review the file and talk to some doctors about what we find. 

I look forward to hearing from more of you and getting to know you as well!

Jeremy (and Diana)

Dr Thompson is highly recommended, as is the comprehensive care center at Children's Memorial Hospital.

Hi Jeremy and Diana,

to the forum and I hope to see you joining our globally big and happy family

I can never applaud you enough for doing such a great deed. You would be great parents for the child. I wish you all the best for the future.

We have a few members who have also adopted a Thal. child from China. I kindly request them to guide you better through the adoption process and I hope you will get in touch with them soon.

Meanwhile, feel free to ask more question that you have in mind.