Thalassemia Patients and Friends
Discussion Forums => Working Towards a Cure => Topic started by: kabir_love on February 26, 2009, 08:18:08 AM
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please i need help, my daughter now 2 months old since 1 month she is in hospital ICU. something is wrong with her its been 1 month all the doctors here cant digonse her problem and whats goin wrong. we cant find any answer after my 1st son kabir thal-major we had this daughter and aslo by god grace she is 100% hla matched with my son we were very happy all of sudden something bad happen. i dont know whether this post here on this site is ok but i have no where to go i need your help. please help me i had attached all her reports of doctor and test done till yet and we cant find any answer.
her condition is like like
she was admitted on 27-jan-2009 in hospital with:
hb- 4.8, live - 4-5 cms enlarged, spleen - 7 cms engalrd. platlets were falling to 25000 level and we gave her blood trafusion of 50 ml 4 times to increase the hb and plattlets 2 time . now we check platelets itself incraese to 1.40 then fell to 60000 then again increase by itself. hb after 5-7 days fells to 5.6 again.
bone marrow biospy shows nothing, now doctors want to do lever biospy cauz they cant find aything. 10 days back there was little bleeding from lungs so we put her on ventilator but in 8 days it was little ok.
all x-rays were done. body and bone structur is ok. just some pacthes in lungs. many blood test and virus test were done they found nothing till yet , ONE OF THAL . SPECIALIST THINKS OF ALPHA THAL. BUT WE BOTH PARENTS HAD DONE OUR TEST AND WE HAVE BETA CHAIN PROBLEM.
please help me looking at the reports if you can suggest anything might be helpful to me. really need help.
sorry i cant upload reports scan its 31. mb please reply me your email address ill mail it immedeatly. doctor summay i can upload if you can read it.
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attached
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Micky,
Are these your new born's reports? I am sorry but its very hard to read whats written in first three.
Zaini.
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yes this is my new born girl child now 2 months reports. what can i say....
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Micky,
I can understand what you are going through,but please tell us did you guys did CVS or Amnio while your wife was pregnant? I think Andy will be able to help you more with the reports,was hb electrophoresis done?
Zaini.
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YES WE DID CVS IT WAS OK AND HB ELECTROPHORESIS IS DONE report attached now please u can advice..
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Hi,
I'm sorry I cant help but just wanted you to know that our prayers are with your daughter. I hope she is well very , very soon
Zahra
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Hi Kabir_love
I am sorry to hear what you are going through. Hope your little lady gets well soon. This is what I have been able to gather on reading results of electrophoresis (from Nurses learning)
Quote:
Fetal Hb (Hb F), is a normal Hb product in the red blood cells of a fetus and in smaller amounts in infants. It constitutes 50% to 90% of Hb in a newborn; the remaining Hb consists of Hb A1 and Hb A2 the Hb in adults.
Under normal conditions, the body ceases to manufacture fetal Hb sometime during the first year of life, and from that point on manufactures adult Hb. If this changeover does not occur and fetal Hb continues to constitute more than 5% of the Hb after age six months, an abnormality should be suspected, particularly thalassemia.
End quote.
Hope you get answers soon. Take care
JAde
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I also want to add that for thalassemia major, a head scan will show hair-like structure on the skull, if I am not mistaken. Can anyone else confirm this?
The spleen and liver enlargement is quite baffling.
Does she have fever?
Jade
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she is now 2 months old thats y doc. and we have done while my wife was pregent thal. test and its fine we have checked she is atleast not b-thal. major. yes she had fever during this time and after 3 days it was gone.
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Micky, i find difficulty too reading what is written by hand. All what i can get is that her liver and spleen is enlarged :huh, is that right
What are these tests for???
manal
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Micky, i really don't have any idea but what i can say is that having fever,increased neutrophils,increased WBCs count may suggest infection :huh :huh
I hope Andy will be able to answer you
I will pray for her
manal
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Mickey,
I am sorry to hear what you are going through. I will take a look at the reports and see if I can research something for you. Sometimes you can have alpha and beta thal - my husband carries both- have you confirmed that you and your wife don't carry alpha thal?
I hope that your little one recovers very soon,
God bless,
Sharmin
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Micky, i would like to add another thing, sometimes CVS can have a percentage of error and electophoresis could not be accurate at this age, so doing a DNA test for her would answer all questions regarding thal whether beta or alpha
manal
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I agree with Manal,
Our prayers are with you and your daughter.
Zaini.
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GOD be with you i'll pray for your doughter
:hugfriend
khalifa
state of kuwait
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Mickey,
I agree that DNA testing is your best solution. A few things would indicate possible thal related problems - such as the low hg - however the hg dropping so suddenly after transfusion, the platelets, spleen & liver enlargement, and bleeding in the lungs should not be associated with thal (as far as I know).
Mickey was your daughter born premature? Is there any history of another illness in the family?
Please keep us posted Mickey, we are all here for you and praying for your family,
Sharmin
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Micky,
May your daughter be healthy soon. I read all the post very carefully and the only suggestion (agree with Manal and Sharmin) is to do the DNA analysis, to rule out Thal major. Also, DNA may be useful in detecting any other underlying problem she may have.
God Bless....
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Mickey,
I will review these files ASAP. I don't want to comment until I can thoroughly examine the results, other than to say that it is obvious that hemolysis is taking place. If I can find anything I will let you know within the next couple days. Seeing that the doctors are bewildered by this, I do want to take my time and make sure I don't miss something.
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Micky,
I hope she is feeling a little better. Seeing the little angels in this condition is one of the toughest thing a parent can do.
First of all, let me tell you. I am just posting - what I think might be the case. Absolutely, talk to your doctor and below are just some points that come to my mind after reading the results. The treating doctor's would be the best judge and I am sure you might have selected the best doctor's for her treatment.
You don't have to worry about posting in here. We are with you in this ordeal. As someone mentioned, Alpha and Beta Thal Trait can co-exist, so I think doing a complete DNA test for all mutations of Alpha and Beta would be a good start.
Also, is Iron Deficiency anemia ruled out?
I highly doubt the child is Alpha Thal Major as if that was the case, she would have had problems while in the mother's womb as alpha globin is used for the child's growth in the mother's womb. There were no transfusion of the child during the pregnancy right?
There can be a case of Hemoglobin H (in that case you and your wife can be alpha thal carriers along with beta thal carrier). There might be other causes which I will try to see what I can find. Also, could you let us know if a DNA test was done on Kabir and if so, what was his mutation?
With her age being this young, looking at the reports and trying to know what is going on is a bit difficult. Do keep us posted.
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Mickey,
Is this possibly related to Rh factor? It is the most common cause of hemolysis in newborns, and often does not manifest until a second pregnancy.
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There is a good overview of Hemolytic Disease of Newborn at http://emedicine.medscape.com/article/974349-overview If it is not Rh factor, it may be among the following issues. Please print this out and ask the doctors if any of these may apply and if testing is in order for any of these possibilities.
Causes
In the absence of a positive direct Coombs test result, other causes of pathologic jaundice should be considered, including intrauterine congenital infections; erythrocyte membrane defects (eg, hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis); RBC enzyme deficiencies (eg, glucose-6-phosphate dehydrogenase [G6PD] deficiency, pyruvate kinase deficiency, triosephosphate isomerase deficiency); and nonhemolytic causes (eg, enclosed hemorrhages, hypothyroidism, gastrointestinal obstruction, and metabolic diseases).
Similarly, hydrops can occur from nonimmune hematologic disorders that cause anemia, such as hemoglobinopathies (eg, α -thalassemia major), cardiac failure due to dysrhythmia, congenital heart defects, and infections (eg, syphilis, cytomegalovirus [CMV], parvovirus).
Common causes of HDN
Rh system antibodies
ABO system antibodies
Uncommon causes - Kell system antibodies
Rare causes
Duffy system antibodies
MNS and s system antibodies
No occurrence in HDN
Lewis system antibodies
P system antibodies
To be honest, thalassemia alone would make no sense for this reaction. It could possibly be thal minor combined with another factor.
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Mickey,
Also make sure the blood been given is washed blood, so the blood taken does not attack her. As Andy as mentioned, do print the list of the possibilities and show it to the doctor to see what is causing the hemolysis of the blood
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We are all praying for your family Mickey. I think that the notes Andy gave you will be very helpful to your doctors in assessing her. Is your wife's blood type B-? That could explain a lot. I wonder if the doctors have suspected thisas well because from the notes it appears that she was given IVIg.
Sharmin
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We are praying for you Micky,I hope she is feeling better now,please update us.
Zaini.
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these are summary of problems goin with my baby and what doctors had done to there best but no result till yet. if you like please tell me your mail id ill pass u all reports if you know any1 who can help me in this case .
yes spleen and liver is enlarge. hb is sometime stable sometime droping to 5.0 from 10.0 in 3-4 days and sometime is stable until 1 week. platletts are reducing to 50000 then again increase slowly to 70, then to 1.40 like this by itself.
difficult to breath by its own yet. and we had done many test but cant find any reason y this all is happening.
we all are B+ BLOOD GROUP
dont know.
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thx everyone/andy
i m just geitn this all info to my doctor now to check about these matter and ill post again all the mutation we had done for us in 15 mins. also we are today sending sample for doing DNA test of my baby to find out results again.
thx. thx a lot
ill reply immedeatly the feedback of doctors for these
andy i had mailed u all reports at your thalpal.com address please u can see we had done many of the test abovce you mention like
G6PD ( FIRST TEST WAS OK NEXT TEST SAYS DEFICENT BUT DOC. SAID THIS IS NOT CORRECT AS PER HER SITUATION ) , PAROVIRUS , RH SYSTEM( IF THIS IS FOR BLOOD GROUP DISORDER) , HEART -ECO IS PERFECT TILL YET,
REST IM CHECKING WITH DOC. WHAT ALL WE HAD COVERD TILL YET .
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Micky,
I hope its just a temporary phase,and she'll be back to normal soon,Your family is in my thoughts and prayers,Good luck with the DNA.
Zaini.
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Micky I have merged both your posts in a single topic,so that it would be easy for you and all the members to keep track of it.
Zaini.
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thx zaini i was having problem with 2 post cauz cant upload more then 5 reports together thats y.
thx
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thx zaini i was having problem with 2 post cauz cant upload more then 5 reports together thats y.
thx
attached our and our son mutations reports aswell.
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Micky,
The report indicates clearly that your daughter is a thal minor,so what Andy said makes complete sense.
To be honest, thalassemia alone would make no sense for this reaction. It could possibly be thal minor combined with another factor.
Doctors need to find this other factor.
Zaini.
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Mickey,
Please make sure that the Rh factor has been considered and also the second possibility in bold below. Are bilirubin levels and reticulocyte higher than normal? This may not be related to thalassemia at all and determining why hyperhemolysis has been taking place is most important. Even a thal major would not have this severe condition at this age. Has there been a Coombs test? Has an exchange transfusion been considered?
http://wo-pub2.med.cornell.edu/cgi-bin/WebObjects/PublicA.woa/1/wa/viewHContent?website=wmc+pediatrics&contentID=2368&wosid=9JvrhOwEKQQPce3AcKttjw
What causes hemolytic disease of the newborn (HDN)?
HDN most frequently occurs when an Rh negative mother has a baby with an Rh positive father. When the baby's Rh factor is positive, like the father's, problems can develop if the baby's red blood cells cross to the Rh negative mother. This usually happens at delivery when the placenta detaches. However, it may also happen anytime blood cells of the two circulations mix, such as during a miscarriage or abortion, with a fall, or during an invasive prenatal testing procedure (i.e., an amniocentesis or chorionic villus sampling).
The mother's immune system sees the baby's Rh positive red blood cells as "foreign." Just as when bacteria invade the body, the immune system responds by developing antibodies to fight and destroy these foreign cells. The mother's immune system then keeps the antibodies in case the foreign cells appear again, even in a future pregnancy. The mother is now "Rh sensitized."
Although it is not as common, a similar problem of incompatibility may happen between the blood types (A, B, O, AB) of the mother and baby in the following situations:
Mother's Blood Type Baby's Blood Type
O A or B
A B
B A
In a first pregnancy, Rh sensitization is not likely. Usually it only becomes a problem in a future pregnancy with another Rh positive baby. During that pregnancy, the mother's antibodies cross the placenta to fight the Rh positive cells in the baby's body. As the antibodies destroy the red blood cells, the baby can become sick. This is called erythroblastosis fetalis during pregnancy. In the newborn, the condition is called hemolytic disease of the newborn.
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hi andy
we had done rh factor test we both parents are b+ and our baby also b+ also we had done rh antigen test done they are also ok. done and confirmed ... also
mycopalsma is negative.
DCT test negative.
now doctors are thinking of doing liver biopsy. dont know what they are thinking of.
AS PER ANDY SAID WE CHECKED WITH DOCTOR
PAROVIRUS - NEGATIVE
MYCOPLASAMA - NEGATIVE
TORCH - ALL NEGAVTIVE
HIV - NEGATIVE
LDH - HIGH (254)
D DIMER- NORMAL
CULTURE STERLIE
ERYTHROID SERIES - NORMAL
MEGAKARYOCYTES - ADEQUATE
PLATLETS - 1.50 ( TO MUCH UPS AND DOWN .50 TO 1.50 )
NO AVIDENCE OF HYDROCEPHALUS AND HEMMORRHAGE IS SEEN IN LIVER , SLPEEN AND STOMACH.
CYTOMEGALO VIRUS (CMV) - NEGATIVE.
HSV - NEGATIVE
TANDEM MASS SPECTROMETRY (AMINO ACID,ORGANIC ACID, FATTY ACID, METABOLISIM ALL NORMAL)
HBF- 70%, HBA2- 26% ( DONE AT 35 DAYS OF BIRTH)
HYPO THAROIDISM - NORMAL
TITRE OF INCOMPLETE ANTIBODIES - NEGATIVE
DIRECT ANTI HUMAN GLOBLIN TEST - NEGATIVE
RH FACTOR - NORMAL.
RH ANTIBODIES - NORMAL.
HDN TEST - NORMAL.
Kell system antibodies - TEST NOT DONE
Duffy system antibodies - TEST NOT DONE
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Mickey,
I am praying that your daughter will be fine. It must be so difficult having your newborn go through so many tests. I hope that they diagnose her condition and resolve it very soon.
Sharmin
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My prayer's are with you and your family. Be strong and don't give up! :hugfriend
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Hi Micky
I just don`t know what to say. Be strong, this is just a temporary phase and Inshallah your baby will be fine and home. Our prayers are with you and your baby.
maha
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Praying for you :hugfriend Please keep updating
manal
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You are are in our prayers.
Be strong!!!
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Mickey,
These last two tests do need to be run. It should have already been done and why it wasn't is not understandable.
"Kell system antibodies - TEST NOT DONE
Duffy system antibodies - TEST NOT DONE"
http://emedicine.medscape.com/article/974349-overview
Although the Rh antibody was and still is the most common cause of severe HDN, other alloimmune antibodies belonging to Kell (K and k), Duffy (Fya), Kidd (Jka and Jkb), and MNSs (M, N, S, and s) systems do cause severe HDN.
Is the baby breastfeeding or on formula?
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Mickey,
How is your baby doing now? Have the Kell system antibodies and Duffy system antibodies tests been done?
Praying that everything will be better soon,
Sharmin
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We are waiting for your update Micky,hoping everything is going back to normal,our prayers are with your little angel.
Zaini.
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Hi Micky
How`s your baby doing now ? She is always in my thoughts and everytime in my prayers. Hope you have something good and positive to write soon.
take care
maha
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Mickey,
We are praying for your family and awaiting your post. We hope that you have good news to share with us. God bless the little princess.
Sharmin
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we had done CT -SCAN of the abdomen on friday and result came on sat. is not good. we can see many lymphosides . like small samll things in the xray every where and some thick fulid of lymphosides in spleen and kideny. doctors had discuss 4 possiblites of problem ill know today there one but one is HLH and for other they are collecting the urine of my baby and will do test from that to check. ill get the copy of ct scan today report and will scan here. dont know yet .
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Mickey
Has anyone in your family been diagnoised with HLH before whether primary or secondary??
Please be strong, i know this is a hard time for you and your family. I really hope that things will be much clearer in the coming hours. Hope that she can be diagnoised in order that you can deal with the sitiuation right away. Your family is in my prayers
Waiting for your update
manal
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Mickey,
I am praying for a treatable diagnosis and best outcome for your baby. I am praying also for relief and peace of mind for your whole family as she recovers. God bless.
Sharmin
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Micky,
Your little baby is in my prayers,i know its a hard time,but i pray that it will pass soon,please be strong,may God help you.
Zaini.
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Mickey,
We are all praying for a positive outcome.
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Mickey,
My thoughts and prayers are with you and your family.
Sharmin
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Mickey,
I just don't know what to say...My prayers are with you and your family.All my blessings to your baby girl.
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Hi Mickey
I hope things get better. Keep us updated.
I wish you get to know what is going about.
Take care and bon courage
What is HLH?
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Mickey,
I hope doctors are able to determine what ever is going on,wishing your baby a healthy future.
Jade,
Check this link,
http://www.criderfamily.org/shannon/about1_hlh.htm
Zaini.
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Hi Micky
How is your baby today? Have the doctors come to any conclusion? I hope they have been able to diagnose her condition and started treatment accordingly.
take care
Maha
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hi
nothing diagnose yet. doc are trying to take our lymp node by some process they can see lymphnodes near bone and abdomenal so they are looking either to do surgery to take out or bone diopsy to sudy it. HLH test they are looking this aswell we had done bone marrow before also in that they had not seen HLH but doc. says results are 70% only sometime they cant see it. dont know yet but by tomaro they will do something .
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Mickey,
Thank you for the update. Our thoughts and prayers are constantly with you.
Sharmin
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Mickey,
Did the docs ever check for Duffy & Kell system antibodies?
Sharmin
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PLEAE ANY ONE KNOW ABOUT DR. MM CHANDI contact infromation. of cmc vellor? i need to snd now reports to him to go throught it. still nothing.
spleen is 10 cms and live is 9.6
platletts - 3 lacks.
hb - falling down after 1 week
so just seeing what to do.
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Hi Micky
You will get Dr Mammen Chandi`s contact info in the foll url
www.thalassemicsindia.org/treatment.html
take care
maha
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Micky
I hope you can find out what is going on soon. What about the HLH, is it excluded now???
manal
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Mickey,
Here is the contact info.
Dr. Mammen Chandy, CMC Hospital, Vellore-632004.
Phone : 91-0416-2222102 / 2223603 ext. 2169
Fax : 91-0416-2232035 / 2232054
E-mail : mammen@cmcvellore.ac.in
I hope you'll be able to reach him,i remember when we sent him our HLA reports,he did reply our email.
My prayers are with your family.
Zaini.
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Hi Mickey ,
May GOD bless you with all the best in everything , my Prayers are with you, your family and especialy with your Little-Kid ...
Best Regards
Take Care
Umair
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Mickey,
Dr. Mammen Chandy is one of the most respected hematologist in India. I have met him and he seems to be interested and known as a patients doctor (less interested in money and more in patients health). The best way would be to email him, the phone mostly goes to the receptionist and you might not get the best of response.
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Mickey,
I am praying for your children. God bless them.
Sharmin
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Micky, i hope that you were able to reach the doctor, any news about your baby??
manal
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Mickey,
I hope that your baby is doing well. Please update us when you are able to do so.
Sharmin
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Hi Mickey
I hope that you have been able to get an answer. How is your little baby girl?
Jade
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thx every one so much.
but we are stuck where we also dont know what is happening, we shifed our child to apollo hospital to do the spleen and liver CT guided biopsy as in last CT scan we had seen lymph node every where and largest was in spleen 1.5 cms and many lesions in body after goin through all reports doctor decided to take out part of lymphnode to study it and hope to find out something from it. yesterday we admitted for biopsy and just before we started procedure doctor did the CT scan again and now there is nothing no lymph node or lesions but very smal was there in spleen so they tried that and part of liver and now watiing for reprot coming on monday, but we get some verbal report from doc. is that they dont see any thing in peripherial slides they had made from spleen portion but full report will be coming on monday.
so till yet nothing is diagnosed and we are still there where we started already now 2 months.
dont know.
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Mickey,
I hope doctors will be able to find out what going on,wishing your daughter a healthy life :hugfriend.
Zaini.
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I wish everything will clear up soon Micky. It good too that the lymphnodes disappeared...
Micky , is your baby eating well now ?? Did the doctors discussed the possibility of relating all this to a virus???
manal
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Mickey ,
Best Regards for your daughter, May GOD bless her with healthy and joyfull life .... WISHING YOU AND YOUR DAUGHTER ALL THE BEST OF LUCK :goodluck ....
Take Care
Umair
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Mickey,
Hoping for the best for your child. Please keep us posted regarding the biopsy results.
Sharmin
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thx every1 for support now things are sorted out by gods only they took away her suffering and she is now playing with them.
loved her a lot.
very unfortunate father
(micky)
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I don`t know what to say. Micky, when Allah gives pain and suffering he also gives us the strength to endure it. And you have to be strong, especially for your wife. She needs all your love and support. May Allah give you and your family the strength to overcome your grief.
take care
maha
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I am really sorry,and sorry is a very small word,i can't tell you what i am feeling right now,i pray God will give you and your wife courage to go through this.I am really sorry.
Zaini.
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Mickey
I am really sorry to hear this. Have courage and support your wife, she will need you.
Jade
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Kabir ,
i m realy sorry to hear about your loss , May her soul rest in peace .
May GOD give strength to bear this loss ..
Umair
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Micky,
I am so sad to hear about your loss. My thoughts and prayers are with you and your wife. :sorrow
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Dear Mickey,
I am so very sorry to learn that the little angel is no longer with us. I wish you family strength to endure this tragedy.
God bless,
Sharmin
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I know that no words can ease your pain and sorrow, but i am sure that you kow that God doesn't want her to suffer. She will be always in your hearts and this will give you the strength... Please accept my sincere condolences...i will pray for your family :hugfriend
manal