My 4 year old daughter was just diagnosed

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My 4 year old daughter was just diagnosed
« on: June 05, 2006, 10:48:06 PM »
Hello to everyone.. It is good to find others who are in similar situations as myslef and my daughter. Lexi my 4 year old began getting sick in October of last year with the stomach flu alot. Then in January she was rushed to the Children's hospital over an hour away because her kidneys were beginning to fail. Since January it has been one nightmare after another. She has been hospitalized six times this year for recurrent kidney infections. Then recently she began having terrible stomach pains. I again rushed her to the ER where they discovered that she had gallstones. Which I was told only occurs in children her age for two reasons sickle cell anemia and thalassemia. Beginning that sickle cell is a disease effecting the African American population and she is caucassion. She was tested for thalassemia. I am just glad to finally have an answer to what is wrong with my daughter but very concerned about what the future will bring her way. If u have any advice please do share thank you .

One very worried mommy

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Offline floWer

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Re: My 4 year old daughter was just diagnosed
« Reply #1 on: June 06, 2006, 01:06:47 AM »
Hi Lexi's Mama,

Welcome to the group. 

I have Thal Major, recurrent UTI's, have had a few kidney infections and had my gall bladder removed however most of these symptoms as an adult.  I just feel for Lexi, having to go through all that and just 4 years old.    As a mother myself I can understand you have been through alot, just wanting your loved one to be pain free and happy.  I'm glad they have finally diagnosed her and she is able to get some treatment.

Once again welcome


Regards

floWer

« Last Edit: June 06, 2006, 01:21:43 PM by floWer »

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Offline §ãJ¡Ð ساجد

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Re: My 4 year old daughter was just diagnosed
« Reply #2 on: June 06, 2006, 05:54:45 AM »
Hello Lexi's Mama,

First of all, welcome to the family!

It really hurts to read all what that little angel is going through! But don't worry! everything is going to be o.k!

I don't think that those symptoms are directly related to Thal. I mean it could be the diet or the high mineral quantity in the water etc. that leads to gallstones and kidney infections. Thal is just a genetic disorder that leads to anemia and it has nothing to do with kidneys and gallstones.

The symptoms of Thal. develop at more earlier stage of life such as 1-2 years. Your baby has pulled through 4 years without transfusions and thus I don't think she has the transfusion dependant version of Thal. (Thalassemia Major)

Get her checked and hopefully she would not have ANY type of Thal. at all! :happyyes
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Re: My 4 year old daughter was just diagnosed
« Reply #3 on: June 06, 2006, 07:43:31 AM »
Hi Lexi’s Mum, Its interesting to to hear the case of your daughter. I am sure the treating doctors will know what’s better for her if they can diagnose it properly. I would like to say that gall stone can be in any hemolytic anemia whether it’s acquired or hereditary. Therefore it’s not that easy to jump a conclusion just for one symptom. The other thing is though sickle cell anemia is common in African American it’s possible to have that genetic defect in even Caucasian origin. As Sajid said since your daughter is 4 years old its very likely this can be moderate type of hemolytic anemia. Hope to hear the correct diagnosis, if possible the kind of investigation they did or requested.

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Offline Andy Battaglia

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Re: My 4 year old daughter was just diagnosed
« Reply #4 on: June 06, 2006, 04:02:38 PM »
Did the doctors tell you what type of thalassemia Lexi has? If she is major they would have started her on blood transfusions. If not, she may be intermedia. The gallstones are very common in thal as are kidney problems. We have had some discussion about the gallbladder at
http://www.thalassemiapatientsandfriends.com/index.php?topic=47.0

Your daughter should be undergoing thorough testing. Let us know what tests they have done and what results and recommendations have been given.
Andy

All we are saying is give thals a chance.

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Offline SalD

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Re: My 4 year old daughter was just diagnosed
« Reply #5 on: June 06, 2006, 11:27:43 PM »
Hello Lexi Mama,

I would like to add a bit more to what Mustho said about Sickle Cell Anaemia.  This condition is relatively common in people with African ancestry from certain regions in Africa.  In the 1970s in the USA Sickle Cell was stigmatised and even carriers were discriminated against. At this time some peole argued that the Sickle Cell trait was proof of genetic inferiority in African-Americans (!!! - hints of the Nazi eugenic movement here).  A genetic screening program was mandatory for African-American communities, but the resulting discrimination from identification of carriers meant the screening program was not well received.  Men (African-American) were not permitted to join the air force if they were identified as carriers (who are healthy!).  Other populations in the USA were not screened for Sickle Cell at this time, despite the fact it is prevalent in other populations as well (Mediterranean, Caribbean, South and Central American, Arabian, and East Indian).     For more info see:   

http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=hstat6.section.17004
http://www.sph.unc.edu/nccgph/phgenetics/sicklecell.htm
http://www.genome.gov/page.cfm?pageID=10001219
http://www.genome.gov/10002401
http://www.sicklecellsociety.org/education/sicklecell.htm#anchor62639

Nowadays, it is well known that sickle cell anaemia can be identified in many communities.  The problem with identifying specific genetic traits with "race" (which is really only a social concept) is that there is as much genetic diversity within "races" as there is between "races".  People don't have a genetic passport that is passed down over thousands of generations, so it has hard to know where your genes have come from!

Re: My 4 year old daughter was just diagnosed
« Reply #6 on: June 07, 2006, 12:32:08 AM »
I am not exactly sure what kind of tests she has had done , just that I am told that she had some kind of Electropherisis test done as well as a bunch of others. So far the Electropherisis test is not back but her other tests are and they said she dosen't have an iron deficency anemia or a hemolytic anemia {i am not sure what that is}. I know I should be better informed but this all surprised me and when they told me their concerns I just signed the papers and let them get the tests she needed. I am very concerned for her and afraid. I can see that there are others out there with this and that you are all strong and doing well and that helps to ease the fears. I know they haven't recommended any transfusions yet. She is only seeing her regular pediatricain so far I had to wait for her to get an appt at Strong Memorial Hospital in Rochester {she will go there on Friday}. I am taking her to Buffalo to the Children's hospital to get her gallbladder taken care of tomorrow. It's just been very stressful all of this with her and I have two other children. My youngest turned one yesterday! What kind of questions should I ask these Dr.'s? This is new territory for me and I am not sure. If you can help that would be great

Lexi's Mama

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Offline Andy Battaglia

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Re: My 4 year old daughter was just diagnosed
« Reply #7 on: June 07, 2006, 03:25:47 AM »
The electrophoresis test will give a much better idea what Lexi has. If it is thal or sickle cell involed, this test will show it. As I said before, if Lexi is 4 and has never transfused, it is unlikely that this is thal major. A major of that age would have exhibited failure to thrive and bone deformities and extremely low hemoglobin levels if not transfused.

Take heart in the fact that the correct test has been ordered. Hopefully the results will be available by the time you visit Strong. They do treat thal majors at Strong, and in fact, Lisa Cammilleri, the founder of this group was a patient at Strong. I don't know which hematologist is treating thal now, as Dr Rowley recently passed away, but it will be someone with some knowledge of thalassemia and its treatments.

Ask them what the electrophoresis showed and if you can get a copy of the results. At the very least find out what her hemoglobin level is. Ask if there may be other factors involved and why her gallbladder and kidney problems are so severe. A diagnosis of thal intermedia would explain this, but it is very possible something else is also responsible. If it is intermedia, a decision to transfuse will be based on what hemoglobin level she is able to maintain without transfusion.

Good luck and please let us know what diagnosis is made and what treament is prescribed.
« Last Edit: June 08, 2006, 03:12:23 AM by Andy »
Andy

All we are saying is give thals a chance.

Re: My 4 year old daughter was just diagnosed
« Reply #8 on: June 08, 2006, 03:02:28 AM »
I think some information is missing here, symptom of gall stone, no anemia neither hemolytic anemia!!??. What sort of electrphoresis they are doing in this case, is it hemoglobin or serum other proteins or what? I hope they will diagnose it properly.Before they jump quick conclusions like that.

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Offline Andy Battaglia

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Re: My 4 year old daughter was just diagnosed
« Reply #9 on: June 08, 2006, 03:24:42 AM »
The routine test ordered when thalassemia is suspected is a hemoglobin electrophoresis.

From http://www.healthatoz.com/healthatoz/Atoz/ency/thalassemia.jsp

Quote
A hemoglobin electrophoresis is a test that can help identify the types and quantities of hemoglobin made by an individual. This test uses an electric field applied across a slab of gel-like material. Hemoglobins migrate through this gel at various rates and to specific locations, depending on their size, shape, and electrical charge.

The hematologists at Strong Hospital already treat thalassemia patients and should have no problem with the diagnosis if the tests are shown to them. If thalassemia or any other blood disorder is involved they will prescribe the proper course of treatment. Lexi is in good hands both there and at Children's Hospital in Buffalo.
Andy

All we are saying is give thals a chance.

Re: My 4 year old daughter was just diagnosed
« Reply #10 on: June 08, 2006, 11:51:20 AM »
Thank you all for the information since my last post I took Lexi to her appt with the GI Dr. in Buffalo for her galldbladder problems. They are  reviewing her tests and then the Dr will formulate a plan from there as far as her gallbladder goes. UNfortunately her liver enzymes are high and her liver is showing early signs of liver disease. I asked about the iron deficeny anemia as well. The Dr said that her iron load in her bloodstream is witihin normal ranges which woulnd't make sense if it was an iron deficeny anemia. Her skin has no color what's so ever she looks like she's never been outside. They sent her for more bloodwork {poor kid} to determine exactly what is destroying her liver. It may be from  her meds so I'm sure when they tests are in we will have a better answer. She was on Gentamycin and Rochepin for six weeks through her PICC line. I am feeling alot better about all of this I have heard great things from many people about the Dr.'s at Strong Memorial Hospital. WE will go there tomorrow and hopefully they can shed some light on this for me. I am hoping that this is intermedia and I agree she would have been sicker and diagnosed alot sooner if it was major. She has had trouble with weak bones. At 18 months she fractured her collar bone when she fell out of a chair and shortly before that she had small fractures to both wrists from tripping and falling hands first into the sidewalk. She has no visible bone deformities as far as I can tell. I will let you all know what happens tomorrow!

 

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