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Hello, my name is James. My wife and I are of Italian Descent and are both Thal carriers (I never knew till it was too late). Our daughter Francesca was diagnosed with Thal Major at 3 months old..count went betwwen 6.8 and 7.1. She began her transfusions at 3 months at the Children Hospital of Philly (CHOP). I, unlike my wife, was not 100 percent sold on the diagnoses considering another hospital, St. Barnabis in Livingston, NJ stated her numbers translated to Thal Intermedia as well as was not happy with starting transfusions so early considering she still had Fetal Hemo and we never really got a baseline, count was dropping slightly. Francesca is currently 15 months old and doing great...very active, so smart, and extremely sweet. She goes every 3 weeks and has gotten used to getting the IV, worst part for all parents im sure. Each time she goes her beginning count ranges between 9.5 and 10.3. My wife gets mad at me when I go with her because I ask questions...something most doctors hate in MY opinion. I feel like she could go every 4 weeks and my fear of starting so early with the transfusions like we did is that we are making her transfusion dependent and we will never know what her count will be on her own....she has never been pale, lathargic, or tired...bit of a fussy eater (typical girl).

Lots of info I know but I just wanted to thank all the members here and the administrator Andy. I had never heard of this disease in the past and since my daughter I now feel like an expert in the field. Thank you all for sharing your stories and I look forward to the journey ahead with all of you. FYI...my wife and I just had a fundraiser in our daughters name and we were able to raise almost 100,000 dollars which went directly to the Cooleys Anemia Foundation.

Any feedback and/or contact would be welcoming.

James

Hi James,

Great job on the fundraiser. CAF does great work and the mother of the founder of this site continues to raise funds for CAF with weekly bingo games.

Have any DNA analysis been done on you and your wife or your daughter? Knowing the genotypes is an important diagnostic tool that can be used to help predict the outcome in thalassemia patients. If both parents are beta° then the child will always be major. If both are beta+ then intermedia is far more likely. If it's one of each, then the outcome can vary greatly. I would suggest a DNA analysis if not already done.

CHOP is following the most up to date guidelines for managing thalassemia, and these have changed greatly in recent years. In the past, transfusions were put off as long as possible, but research has shown that transfusing as soon as needed is the best course to take in terms of what best promotes normal physical growth and development. Once it is determined that a child will need transfusions, they begin immediately as this period is so important when babies are growing rapidly. The Standard Guidelines say to begin transfusions once there are two consecutive Hb tests below 7. At 3 months, 7 is quite low and an indicator of thal major. The pre-transfusion level should be kept between 9 and 10. Do you know if the electrophoresis at that time showed any HbA?

CHOP has one of the thalassemia centers of excellence and Dr Cohen is world renown. At the centers of excellence, managed care is the norm and you have seen this from the start. You are right to ask questions and further your understanding, and you can have confidence in the expertise of the staff at CHOP to be able to answer those questions. The thalassemia centers of excellence in the US are by far the best settings for planning and evaluating managed treatment programs, even when treated regularly elsewhere. You're doing best for your child by taking her to CHOP and you see the excellent results in your daughter's development. I think you should get the DNA test if you haven't already, and for another reason. Drugs that will raise the Hb by as much as 3-4 points are in development and will be of special interest to those who can maintain a hemoglobin level of 5 and higher without transfusions. One more thing in favor of the centers is they are always first to develop and adopt new treatment strategies and also often run trials on drugs not yet approved, giving patients access to new developments in treatment.

Hi Andy,

Thank you for your response and taking the time to write back. The electrophoresis DID NOT show any HbA and to answer your other question...my wife is beta O and I am beta +...CHOP believes she is Thal major and we are treating her as such. We are happy with CHOP and their services.

Thank you for letting us know about that new Hb drug in development, that is very exciting and we will look into it. Who is developing drug? I have been following Bluebird Bio...look into them. Please keep in touch and I will do the same.

James

Hi James,

Dr Susan Perrine has been working for over 20 years on a drug to stimulate fetal hemoglobin production. The drug is now in stage 2 trials. The company developing it is Hemaquest. http://www.hemaquest.com/index.asp

While the gene therapy being developed by Blubird and others shows great long term promise, we can't expect anything very soon. However, I do expect the drug from Dr Perrine to be available in a much shorter time span.

Hi Andy,

I looked at the site you posted and it seems that the drug you mentioned is only treat sickle cell and beta thal.  Will this drug also help alpha thal? specifically HgbH?

Thanks.
B

No. Alpha globin is needed to combine with gamma globin to produce fetal hemoglobin, and alpha thals have a reduced alpha globin production, so there is nothing for the gamma globin to combine with to produce fetal Hb.

Hi Andy, after a recent trip to CHOP for my daughter my wife brought up Wheat Grass juice to the nurses and doctors there. All were very mum on the issue and stated that they didnt know much about it. When given the nutritional values and effects from it they said not to give it to her (she is 16 months) because they were nervous about the iron and also said it wasnt FDA approved. I of course when hearing of this became angry due to the fact it can only help, not hurt her and only added to my pervious notions of doctors in general.

She is continuing to go every 3 weeks, last 4 counts have been...10.3, 10.2, 10.2, 9.7. Her weight is around 20.5 pounds, which should probably be higher but she is a fusses eater!  Any opinions on her progress and what to expect as she reaches 2 years old?

Hi James,

I find it pointless to talk to most doctors (Dr Marwaha in India being a noted exception) about wheatgrass or most natural methods in general. It's not what they're taught, so they seldom have any insight on the subject. I find it silly to talk about FDA approved for a simple food product like wheatgrass. It's nothing more than juiced sprouted wheat grain. Doctors will prescribe all sorts of drugs that are loaded with side effects, but approved by the FDA, yet they balk at taking food as a supplement. I have found wheatgrass beneficial in general. I take the extract since wheatgrass juice does not have a pleasant taste. For thals, there is some iron in the juice and less in the tablets, but none in the extract. I find it improves my energy level and helps my immune system. I also use a wheatgrass cream on eczema around my lips in cold dry weather, and it is the only thing that actually helps heal the area. I've gone long periods not using the extract and then when I start again I ask myself why I ever quit. I don't think it will raise Hb in most patients, but it does have positive value.

One thing you'll be dealing with soon is chelation. Have you made any decision and which route to take, desferal or Exjade? Exjade can make kids even pickier eaters but there are ways to lessen the effects on the stomach, but Exjade doesn't require needles so it's a popular choice. Getting kids that age to eat can be tricky and with thal you want to try to follow a fairly nutritious diet Try a variety of foods and try to find things she'll eat on a regular basis. Maintaining the Hb also has a positive effect on appetite and increases energy levels. I'd be tempted to say try letting her go another week between transfusions, but not at this age because it could affect her growth rate. Is she taking any vitamins or other supplements?

Hi Andy,

Thanks again for the input. Im done arguing with Doctors..they seem to get upset when you ask questions and tend to prey on the mothers emotions....just my opinion based on my experiences. Quick story...after questioning the head nurse of a particular hospital about the need to visit their doctor every 3 months for a checkup her response was "well..the doctors have to get paid too". Thats all I needed to here.

As far as chelation...the least evasive way is what my wife and I agreed upon. No more needles!! Im glad Exjade was approved recently and I am interested in seeing the benefits and disadvantages as it becomes more widely used. Our concern is if our daughter will even drink it...she doesnt like juice or milk and only drinks water. Her favorite food seems to be oatmeal and rice...not a typical Italian, lol.

I think my wife and I are going to wait till 2 years of age to start the Wheatgrass...thats if my wife and I agree on it. She already takes a liquid multi-vitamin and also a folic acid tablet in the morning mixed in her food.

When we started the transfusions we went every 4 weeks and then after about 5 or so the doctors changed it to every 3 weeks..I understand the growing issue but so many transfusions make me nervous. In the coming months I will be discussing this issue with the doctors.

Sorry meant Ferriprox approval

James,

I don't know if Ferriprox will be recommended for young patients. I hope it is but don't know yet. If it turns out that Exjade will be the first chelator, we can give you some solid advice on making it more tolerable and effective. Once the child's growth slows, you may want to ask for a trial of going one more week between transfusions to see if she can maintain her Hb level above 9.