Trying to figure out what to do

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Offline fallingrey

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Trying to figure out what to do
« on: October 09, 2008, 08:03:45 PM »
My 4 year old son has been treated for the last seven months at St. Francis Children's Hospital in Tulsa, Oklahoma.  He was treated prior to admission there for six months for iron deficiency anemia by a local doctor.  The iron didn't correct his anemia and his iron levels remained somewhat low.  He was admitted to the hospital because of a 5.6 hgb, that we later found out was a 6.8 (they had done a CBC in office and the results were inaccurate).  Anyway, we were in the hospital for 3 days and released with no more answers other than iron deficiency and we continued treatment with iron.  Now, after regular visits to the Children's hospital they have concluded that he has Alpha Thal minor.  There are still things on his CBC that don't add up, at least to me, and when I ask they have little explaination other than to say that they are reactive to his other counts (ie his body is making up by making what it can) 
His Hgb is now up to a 10
     MCV 63
his platlets are high
His erythrocytes are very high, lymphocytes are low
his RDW is high and red cell count is slightly higher than normal
His iron counts are all within normal range
She told me also that his retic is off and is not typical of iron def.
hbg Electro. was normal

His doctor called me recently and told me that we can do DNA genetic testing to find out specifically what type of alpha he has however, she said that this may prevent his from getting insurance in the future because it would be considered a pre-existing condition.  She also said that is would be something he would eventually have to deal with because of passing the trait to his children.

Because he got so ill just six months ago and because I want definate answers I think that I am going to go through with the genetic testing.  (His father and I are both of European decent.)  Also, he has a speech delay and has had some delay in some major milestones although, in the last year he has caught up to normal for his age.  I wonder if there is any connection or a very mild form of X-linked MR syndrome. 

Any thoughts or opinions would be greatly appreciated


     

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Offline Narendra

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Re: Trying to figure out what to do
« Reply #1 on: October 09, 2008, 08:46:53 PM »
Hello fallinggrey and welcome to the forum,

I think from the post, it seems a possible Alpha Thal Trait. Hemoglobin Electrophoresis will most likely be normal. MCV is low and RBC are slightly higher

It would be a good idea to get the DNA Testing done as that way you can find out more of what type of Alpha Trait he has. At his age Hb of 10 seems a little low. Not, that I think it is but he might have Hemoglobin H, so it is a good idea to get a clearer picture with molecular level testing.

This link might give you some reference to look at:-
http://www.sickle-thalassaemia.org/Alpha%20Thal.htm

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Offline fallingrey

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Re: Trying to figure out what to do
« Reply #2 on: October 10, 2008, 02:05:28 AM »
I just noticed as I was looking over his most recent bloodwork that I stated something incorrectly before.
His lymphocytes are high a 48 (19-35 is the range), granocytes are low 37 (52-70 range).  Eosinophil is 7 (0-5 range),   MPV is 9.9 (7.2- 9.4 range)  Plt is 363 (182-302)  RDW is 16 (11-13.8) MCV 63 (75-87) and Hgb is 10.1 RBC is 6 (3.9-5.3).  All other counts are within normal range.

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Offline Narendra

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Re: Trying to figure out what to do
« Reply #3 on: October 10, 2008, 02:24:41 PM »
Do you have the values for his Iron panel? Also, you mention the electrophoresis was normal. Could you post the A2 value? That gives the other numbers some meaning to see what might be in play.

Also, do you have an answer from the doctor on why the platelet counts are high. They are not as high, but the MPV (Mean Platelet Value) increase would occur when the number of platelets produced are increased.

Did your son have any allergy or infection prior to the blood test? Eosinophil counts are believed to function and change depending on allergy or infections
 
There are a lot of values, which I don't fully understand. It would be best to talk in details with a hematologist to get an understanding of what's going on.

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Offline fallingrey

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Re: Trying to figure out what to do
« Reply #4 on: October 10, 2008, 05:21:20 PM »
The only iron value that I have is a serum iron of 59 (25-125).  His A1 was 97.6 and his A2 was 2.4.  The doctor hasn't said anything about his high platelet count.  I have only known about his alpha thal for about two weeks and we didn't discuss his most recent test results in person.  He has an appointment in two weeks and I will ask her for more information about these results. 

Simon does have seasonal allergies but no infection or anything major at the time of the test.

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Offline poo gill

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Re: Trying to figure out what to do
« Reply #5 on: October 15, 2008, 03:41:01 AM »
hey fallinggrey

Welcome to the forum. Are you and your husband tested for carriers(electropherosis). You will know by your tests that wether you both are carriers. Also when you r going to do DNA get yourself and your husband also tested cos sometimes one can be a silent carrier. AS our son is 10 as of now, dont worry too much, he is doing well. Just give him folic acid and vitamin e(natural).

Can i ask you something from 6.8 to 10 how long did he take to go and did he get any tranfusions. Which was the medicines besides iron being given?
"We are like angels with just one wing. We can only fly by embracing each other." 

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Offline Andy Battaglia

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Re: Trying to figure out what to do
« Reply #6 on: October 15, 2008, 04:38:45 AM »
Hi fallingrey,

First and most important is that you have been given false information. Newborns are protected by federal law in the US. If you have health coverage, your child cannot be denied care in the US for any condition that exists at birth.

http://www.dol.gov/ebsa/publications/newborns.html

Quote
The Newborns And Mother's Health Protection Act Of 1996

Contact your health plan or your spouse’s health plan as soon as possible to find out how to enroll your new baby in group health plan coverage.

As long as you enroll your newborns within 30 days of birth, coverage should be effective as of your baby’s birth date, and your baby cannot be subject to a preexisting condition exclusion.

Remember, you should enroll your baby within 30 days of the date of birth.

Please do get the DNA test. It is very important for diagnostic purposes, and also for future reference when he chooses to have children. In addition, as you said, the condition of the x chromosome needs to be assessed. I think because of the slow early development that this is something you need to check out, only if to put any doubt to rest.

Platelet counts are often mistaken in thal carriers and if alpha does exist, the red blood cells could easily be mistaken in a platelet test as platelets. Re-testing by a lab more familiar with hemoglobinopathies might give a different result. There are things in the tests that do indicate the possibility of alpha thal, so once again, testing is necessary. The HbA and HbA2 are normal but that is often the case in alpha trait.

If it is alpha thal trait, the Hb should hover in the 9-10 range or possibly higher. Folic acid is required daily. Other supplements may be of some help, especially in strengthening the immune system. Fava beans and possibly other legumes have to be avoided, as does the chemical benzene, which is found in gasoline and lighter fuel vapors. It is also created by charcoal grilling of meats.

One thing that should be noted, is that with alpha thal, infections can cause big drops in Hb so this could explain the earlier lower level. It also reinforces the need for protecting the immune system of alpha thals.
Andy

All we are saying is give thals a chance.

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Offline fallingrey

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Re: Trying to figure out what to do
« Reply #7 on: October 19, 2008, 03:45:08 AM »
Andy, thanks for the information.

The doctor told me that if we had my son's DNA tested that Apha Thal trait may prevent him from getting insurance later in life.  He is 4 now and has medical coverage that he has had since birth.  We can carry coverage on him until he is 18 or 24 if he is in college full-time.  She said that when the coverage lapsed, he may not find anyone willing to insure him at a reasonable rate because of the aplha thal.  I was wondering if there was any truth to him being denied later as an adult.  Because of the nature of Alpha Thal trait/minor, I can't see why he would be denied coverage.  I've really tried to do some research on the subject and haven't found any definate answers.

I spoke with his doctor this week and she is pushing not doing the testing, at least not now.  Even though I told her that I am not concerned with the cost and can easily afford to do so.  She said treatment would be no different and has turned him over to his regular doctor. She said all we would find out is the specific type of Alpha Thal mutation and acted like it wouldn't be helpful to know.  The thing is she hasn't prescribed any treatment or suggestions beyond correcting his iron levels, which are now normal.  However, she insists that he has Alpha Thal trait and I should not be concerned with it at all.  No specific mention at all about Folic Acid but she did say to give him a mulitvitamin without iron daily.   

Should I ask for a referral and take him somewhere else?  Or just simply insist on doing the testing?  St. Francis Children's Hospital has a great reputation, I just don't know if I'm getting the best advice from her.

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Offline fallingrey

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Re: Trying to figure out what to do
« Reply #8 on: October 19, 2008, 03:57:52 AM »
Poo gill,
Neither of us have been tested.  To be quite frank, simply because no one has suggested it.

From a 6.8 to a 10 was a little over 4 months.  He had a lingering sinus infection when he tested at a 6.8.  He has been at around a 10 for the last few months.  He was only given iron and a mulitvitamin.  It is good to hear that your son is doing well.

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Offline Andy Battaglia

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Re: Trying to figure out what to do
« Reply #9 on: October 19, 2008, 04:28:58 AM »
Regardless of reputation or how good a hospital is for most matters, if they don't understand thalassemia, you won't get proper answers. A doctor telling you that you do not need to know if you are a thalassemia carrier is being highly irresponsible. Every carrier on earth should know so they can make truly informed decisions about who they have children with and what precautions if any, will need to be taken to prevent a tragedy like hydrops fetalis, when a baby is missing all four alpha globin genes and can make no usable hemoglobin, resulting in death before or at birth. When two alpha thal traits who both have two gene deletion alpha thal have a child, there is a great possibility that their child will have 3 or even 4 alpha globin genes deleted. If all four are deleted, the result is hydrops fetalis and the baby dies. In the case of three gene deletion, the child may be transfusion dependent for life. These are things every parent has a right to know and would want to know before making a choice about children. I don't see how any doctor can tell a patient that they don't need this information. In the US, patients do have some protection under the Patient Bill of Rights, and one of these rights is a right to be informed about all aspects of their medical condition and all treatment alternatives. If you request testing, there should be only compliance from your medical providers. And you are very correct. There is no reason your child would ever be excluded from insurance because he carries alpha thal trait. It is a mostly benign condition and his medical needs will not be much different from anyone else.

One of the big roles I try to take on is one that promotes education and awareness about thalassemia and one of the reasons is so that prospective parents can make informed choices when deciding to have children. Without testing, this is not possible. Even though carrier status may not lead to any major health issues in carriers, they do need to know for the sake of future generations and their own sake as parents. Even when parents consciously make a choice to have a child in spite of the risks, and have a thal major child, it should be their informed choice and not done out of ignorance.

Other than folic acid, there is very little one can do even when it is three gene deletion alpha thal. Strengthening and protecting the immune system is important. A multivitamin is a good idea. I would also recommend watching the developments in the research into Fermented Papaya Preparation, as it has been shown to have a positive effect on the immune system. If it turns out your child gets sick or infections easily, it may be something to consider. Working to stay healthy is the best treatment for alpha thal. Alpha trait may result in very little in terms of problems, so now it's important to just maintain normal health.

I would not hesitate to recommend testing to anyone who may be a carrier of any blood disorder. Testing can prevent so much grief later on. The law says that you cannot be excluded from insurance and that insurance is portable, which means that when you change policies, you cannot be excluded from coverage on something you were insured for in your last policy. I don't think this is where the threat to insurance will come from in the US. The real threat is the elimination of employer provided insurance, as one of our candidates for president wishes to do by taxing employee's insurance benefits, removing the tax exemption for employers who do provide health insurance and then giving workers a tax credit too small to cover their insurance costs. This is a horrible idea and will lead to tens of millions of people losing insurance if it was ever to be put into law. We do have protections but if we can't afford insurance, the protections won't help.
Andy

All we are saying is give thals a chance.

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Offline Lyanne

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Re: Trying to figure out what to do
« Reply #10 on: October 21, 2008, 07:11:57 AM »


   hi! fallingrey welcome to the big family..........  :welcome :welcomewagon :welcome
LYANNE :yahoo

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Offline fallingrey

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Re: Trying to figure out what to do
« Reply #11 on: October 24, 2008, 03:22:37 PM »
Thank you for all of your help and concern.  I have since demanded that we do the testing and his doctor has hesitantly complied.  My son is going to Tulsa to have his blood drawn for genetic testing in a little over two weeks and we are doing our first genetic counceling session as part of the pretest recomendation.  As soon as I hear something, I'll let you know.
Thanks again for helping to empower people with information.

 

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