Confusion abound Beta Thal Intermedia

  The doctors diagnosed my beautiful baby with Beta Thal Minor at age 13 mos when she was failing in health for no reason I could tell.....I was barely a child myself 19 when I had this little girl.....They told me oh it's just anemia we will treat her for iron dificiency and so we did and she thrived. Then her face started to change teeth bucked and seperated, cheek bones very prominent her eyes becoming slanted a tad bit making her absolutely gorgeous.......my bouncing blonde curly haired daughter was becoming a woman before my eyes....braces and broken ankle, she crossed the stage to accept her diploma from middle school...... Her mensus started age 14, she had her first child age 20, and second 15 mos later, now as time progresses we noticed the changes taking place with my daughter her hands peeling, hair falling out, hemoglobin 4.5 4.7 and so on just wavering for that next transfusion, now 29 years later, she's in trouble again, so the doctors asked to test my daughters father and myself we gladly accept and they did a cross reference DNA profile to see if her brother could donate bone marrow......we were horrified to find non of us matched and what is worse neither my ex or myself are carriers.
The doctor called me to explain all this to me while I was working I had to pull the semi over on the side of the road as I listened to this horrible man saying my daughter isn't mine...can't be mine....no way shape or form.......That doesn't seem fair to say to someone unexpectedly and want them to accept it as truth... I took a deep breath and only said "Prove it" he said I'm sorry but if you don't carry and her father doesn't carry and no one matches it's mute to believe otherwise. My mind raced back to when she was born a whopping 5lbs 9ozs of screaming love..........Then the questions came after the call is there a possibility that the lab screwed up? since I couldn't ask him I requested another blood test from my own doctor, none of this makes sense any ideas what they are talking about?

I will be happy to look at the results of any blood work done for the child or either parent. I cannot understand how a doctor can tell a mom that a child isn't hers. Outside of babies being switched at birth, this isn't possible.

I feel that the most important thing here is getting proper treatment for your daughter. Has she ever used any chelation meds to remove iron? Have her transfusions been regular? Her case is completely mismanaged from what you have told us. It would be best if she could go to one of the Thalassemia Centers of Excellence for an evaluation and so she can have a treatment program designed for her, based on her specific needs. I am quite concerned about her future if she does not get proper care ASAP. Please contact Eileen at CAF. She can direct you to a more thal familiar hematologist.

Cooley's Anemia Foundation
330 Seventh Avenue, #900
New York, NY 10001
(800)522-7222
Fax: 212-279-5999

Patient Services Manager
Eileen Scott
eileen.s@cooleysanemia.org

I will get her blood work and mine and her fathers, plus the match that they accumulated Her youngest is now showing signs of severe anemia and I've warned her against vitamins containing iron he is heading to childrens this week for a full blood work up. I will pass on the information to my daughter for the cooleys anemia foundation it's just very hard on her at this time not being managed because of her insurance not being there so i'm paying for everything myself. Until she can get back to work. I appreciate your help. She gets transfusions only if needed. This will be her 6th in 3 years. Iron levels have been low and misdiagnosed twice as pernicious anemia.  Some doctors have zero clue about BTI it's very sad.....When the doctor told me that there is no way she is my daughter I told him he has to be the cruelest joke sent for the day. My doctor is convinced the reason I've been so sick with anemia and a swollen spleen for years is that I am thal trait. He is conducting more tests he said to ignore what people say. He's been looking for a reason until I emailed him about Jen. He said we will get to the bottom of this. And he stated she was minor in 1983 mutation of the 11th chromosome can flip to intermedia depending on care. So she's been mismanaged since she's been out of my home. I can't blame me, I can't blame her she didn't understand how serious this could be. It's very disheartening to know that she is so sick at this time, and her pregnancies with both children were nightmares her uturus didn't expand correctly low water both babies induced early the placenta got old fast, severe anemia put her in the hospital many times I was woke up late at night that she was back in the hospital I kept telling them to quit giving her iron suppliments she's got Beta Thal the docs would call and ask what I thought that they were doing was wrong, I told them your killing my daughter and would fly up to utah and stop treatments get them to run more tests and increase vitamin D since it was dangerously low and start venifer which had been used in past threshold emergencies and it worked. Her iron came back up she was back to normal it seems like the battle never ends. Thank you for the information on where to contact get her going on the hemotology side I've told her to go to a hemotologist she keeps saying but i like my doctor I said he's going to kill you go to a clinic that will take care of you.
I'll keep you posted thanks

If only one gene comes back as a beta mutation, then the possibility of a triplicated alpha globin gene on chromosome 16 should also be investigated. This is known to cause intermedia like symptoms and also to progressively worsen with age. The doctor should be made aware that this is a possibility if the testing shows only beta minor. Your daughter should ask Eileen if there is a way to get coverage for transfusions when one does not have insurance coverage. Regular transfusions would be of much benefit.

I just called Jen she will be calling eileen on monday early to try and get things moving i've copied what you said, the minor trait was diagnosed at 13 mos and at 29 years intermedia was diagnosed. If a single carrier is present is it possible for intermedia to progress? I thought it took two carriers of the trait to make Intermedia. I've probably been misinformed as much would do me good to do some heavy reading.

Minor cannot become intermedia, but from your description of the facial changes etc., I would say she was an obvious intermedia at a young age. There is a rare dominant beta gene which can cause a more serious transfusing requiring condition, but as I said, this is rare. The triplicated alpha globin gene combined with beta minor can also produce a more serious condition, and this diagnosis is becoming more commonly made in those with intermedia as mutations of the alpha genes are examined along with deletions.  A DNA analysis would tell precisely which mutations or deletions are present. The DNA analysis should be of both chromosome 11 and 16, and the lab should be aware that they need to look for an alpha mutation, because often only deletions are noted.

Your previous doctors are typical in that they are not well informed about thalassemia. Many have never seen cases of transfusing thals, so it is understandable that they have not studied thalassemia. Even many hematologists are not well versed in the subject. A complete blood count and hemoglobin electrophoresis, and possibly a full iron panel, should be run. These results can show if a DNA analysis is needed. A hemoglobin level under 6 should set off alarms that every doctor should notice. Under 5 is getting into a dangerous zone where intervention with transfusion should already have taken place. Her care should have been much better all along. It is troubling that her doctors over the years have not done more to help her. 

She was seen consistantly by the childrens clinic Hematology team and they'd just say the same thing she has tiny red cells and her iron is too low. Later they even checked her for chronic Leukemia I was stumped by this one but just let them do what they do best nothing but make mistakes on children.
Venifer treatments actually helped her since she can't absorb the iron it attaches to the hemaglobin and gives relief for a few months. They give it to pernicious anemics and I had asked if it worked with them why not with thal the hematologist only said we can try and see what it does.
I took control of my own health care years ago and have instilled it on my children my daughter is a grown woman and is meek in her healthcare I would think it's time for me to head back to utah and put my foot down and make demands for appropriate care. Get her fully tested and have them set a program that will take care of her problem. I know she's trying to stay strong but she's so fatigued all she does is sleep and the doctors do nothing just tell her to rest. Uh huh rest they won't do when I get there lol! I'm very convincing in my ways of healthcare an activist at the finest level. I suffer a different disease that I pray is not given to my offspring or theirs I actually speak at conventions to get doctors to realize the importance of proper healthcare for this problem, it's very rare and extremely debilitating if not managed. 1 in 50k doctors will ever see it in their lifetime. So I put myself out there so they will see it and realize it happens.
Maybe as a mother of Thal patient I need to do the same I work conventions 3 times a year speaking and inviting doctors to look at the blood panels in the microscopes to see the actual disease I am talking about that no one sees. If you need help let me know I'll be happy to do the same as I said I'm very convincing with the healthcare admins they love it.

Update On Jen

Eileen Scott of The Cooleys Anemia foundation connected with myself this am and connected with Jen also, she opened doors that we didn't know existed I want to thank you Andy for putting us in touch with her, Unfortunately by the time Jen got to the Emergency room her hgb was 4.1 She has been admitted for Program Transfusion status, They are talking a week of testing for absorbtion and stabilization. Dr. Prtchel From the Huntsman Cancer institute is the only physician in SLC Utah who has ever treated Beta Thal Intermia transfusable He has taken her under his care and doing further testing to see how she handles this round of transfusions, Stating slow drip at the least 5 units and will not be released until her HGB is 10 nothing under 8 is acceptable where he is concerned we were horrified to learn the clinic seeing Jen to begin with knew she had 5.7 in feb. and just passed it off as nothing. She is no longer in their care at all.
Just wanted to let you know how she is her spirits are high she's very weak and exhausted but things will change after this session and celation? therapy.
I posted a picture of her so you can see who I'm talking about.
Thanks again Jen will be joining soon for contacts with other intermedias that she can just feel like she's not the lone one standing.
God Bless
Laurie

Eileen and all the people at CAF do a wonderful job. We have a really great resource in the US as a result. I am happy Eileen was able to get you moving in the right direction. Low Hb is nothing to ignore. Once it goes below 4, coma is likely. This is very dangerous. Jen will do so much better once her Hb gets to 10. She will feel like a new woman and I am sure will understand that it is much better to be in a treatment program that allows her to maintain a good quality of life. With intermedia, one has to be very careful, because the standards of treatment have changed greatly over the past two decades, and many doctors are operating with outdated information that was based on avoiding transfusion completely, but with a poor quality of life as the trade off. With modern chelation drugs available, it no longer is acceptable to allow people to suffer such a dramatic drop in quality of life.

I don't think we say it enough, but thank you Cooley's Anemia Foundation!

Jen called a few minutes ago and 45 people came to donate blood in her name, some her blood type others not but it didn't matter the type it is the fact that these people, friends and friends of her friends cared enough to give a part of themselves to aid in helping. It brought tears to my eyes they didn't make a call out for O- yet as they had plenty for her but accepted the donations happily. I didn't realize how fast word can spread when a beautiful person like Jen is sick, but in the end it became clear, they gave the only thing they had to offer, themselves. Many Jen stated were asking what BTI is and wanted to know more. I think we got a rumor spreader on our hands lol she explained what she was told and what she read, Someone asked her are you gonna die? and jen said not today maybe in 80 years. It's good to know they are treating her good up there, I'll be flying to Utah this weekend, Jaden's tests came back as well he is BTI also, I'll be taking him to the clinic Monday with the pediatric hemotologist who specializes in BTI. His HGB was 9.4 which is good in the standards of keeping him up. Kyla was tested and came back Beta Trait. She will be schooled on what it is as she gets older and the importance of pretesting before having children. It's a family thing one thing I wish was not shared.

Good News....No wait GREAT NEWS! Her HGB is now 9.7 Her Hematocrit 40 Transfusions were stopped due to iron overload, but the bone marrow test and DNA studies are well on their way and she is feeling so much better she is pulling her hair out waiting until they allow her to go home. They have determined she is Beta Thal Intermedia Tranfusional Her appts will be set for the first few months at 3 weeks to keep track of her HGB. The Iron overload came from Her private physician prescribing Iron for her to take. Ingenious not.
Anyhow a few more days and Jen will be home with her kids she is already planning an outting which she hasn't been able to do in two years. Her energy is extreme!
Her HGB was 10.04 on Friday and fell a little bit that is why they won't let her go until they see what she's going to hold onto and get her on something for the iron overload. They will keep her compliant and she stated She'd rather be able to think instead of being an airhead. Her humor is great again, laughing and joking about the student docs at the university, how they try to figure out what is wrong. She always tells them at the end Beta Thalassemia Intermedia, one intern said "you have what" and jen said "FOREVER COOTIES" lol god love her.
Thanks again for all the prayers and well wishes
A big thank you to ANDY and a tremendous Thank you to The CAF
God Love you all
Laurie

Laurie,

That is great news! Hopefully Jen will soon be home. Her life will be so much better now. When it's time to start chelation, it will probably be Exjade. Exjade tends to cause side effects like a skin rash when first using it. This can be reduced or completely avoided by starting on half the required dose for the first two weeks. Take advantage of the opportunity to get friends and family to regularly donate blood. The need is always great and everyone has seen first hand just how important this is.

I am really pleased by this. Without immediate action, there could have easily been a tragic outcome. What a relief!

Yes Andy that is what she said Exjade lol I kept wanting to say Ajax so couldn't type it in sheesh I'm a bit tired and run down from the past week of ups and downs. Anyhow they haven't started it yet she said they came in and discussed it with her stating it was like alkaseltzer.
Jen is a girlie girl woman, everything grosses her out, She actually made the nurses cover the blood being transfused she didn't want to see it. 
I don't know what I'm going to do with her, I wouldn't know what to do without her.
I guarantee I love to see that smile, no more tears.

Believe it or not, before I got involved with thalassemia, I couldn't even watch the blood flow for a little blood test. I made myself learn to watch it once I met people whose lives revolve around transfusions. If Jen has trouble drinking Exjade mixed with liquid, it can be crushed and mixed with a variety of soft foods. Also, splitting the dose into half and taking twice daily can also make it more palatable.

I will definately tell her My blood work just came in lol and who said she isn't mine? ha ha ha ha I have beta thal trait. Was told I'm suffering from Iron def. Anemia I said Ya think doc lol Have not taken care of me lately too concerned for my kiddo. starting folic acid today sigh it's a never ending battle ya know If I don't take care of me I can't take care of them If they don't take care of themselves I take care of them Yikes I've become a grandma that's what it's all about Loving every minute of it.
I told Jen my HGB she said No Fair! quit bragging lol mines 12.
We are waiting for the Gene testing on 11 and 16 They drew Jen and Jaden and Kyla Just in case they are trying to identify the mutation at this point said it makes it easier to treat if they know which one they are dealing with. I gave them our family tree information I am the 2nd generation from Alsace Lorraine Colmar France. On Mothers side and 16th Generation From Sandwich England. So now is the waiting time to find that out it took over a week on my retest for beta thal trait. Rickys came back too He also has Beta Thal Trait. So I guess that quack that scared me needs his eyes examined. The original tests have been retrieved by the Huntsman Cancer institute where her doctor practices and it showed the trait on both myself and ricky. I guess it makes a difference when insurance is an issue. Sigh