SCARED AND CONFUSED

hi everyone. my name is christine and i have a 10 day old daughter named lauryn. we found out she had cooleys anemia when she was 3 days old. its been 1 week exactly since we recieved the news and the shock is still fairly "new". my question is when will my acceptance set in that there is hope, and this disease is not necessarily a death sentence? ive been so depressed. so depressed that every time i look at my beautiful baby, all i see is thalassemia! i cant even enjoy her, b/c all i do is cry and think negative. i also feel extremely guilty,b/c my husband and i knew there was a chance of her having this disease and we still planned her. i wanted her that bad that i chanced it !!!my luck..... .. i guess what im looking for is encouragement and positivity. is there an alternative to desferal? are they close to a cure? if compliance with transfusions and chelation are met,then why are people still dying of this disease so young? like lisa?(the girl who started this site?) i thought if treated,people lived normal long lives? i have so many questions and not enough knowledge on this subject! please give me info to better educate me and put my mind at ease.
 
thanks so much for listening,
christine   

Hello Christine,

Don't worry too much about your baby being Thal. If you take proper care of your child, everything will be all right.

Science is progressing towards the cure of diseases. We have bone-marrow transplants to cure Thalassemia and stem-cell transplant as well which work best if you do it while your child is small. Eventually the cure for older patients will come. Be optimistic.

The alternative to Desferal are the oral iron chelator pills like L1/Kelfer/ferriprox etc and especially Exjade which is becoming more and more common everyday.

You are right about one thing that if treated properly, Thals. can live a happy long life and you can even meet several of them right here on this forum who are above 30 yrs old and living a happy healthy life.

I hope that you will be positive about your baby and give her the best care you can. Treat her like a normal kid and hopefully everything will be all right.

Please feel free to ask more questions that you have in mind.

Take care and be positive.

Hi Christine,

Treatment for thalassemia has changed dramatically over the past 20 years. Patients born today have a much longer expected life span and a much better quality of life than was previously possible with thalassemia. With the advent of oral chelators, in many places desferal is no longer the main chelator. In which country are you located? The new oral chelator, Exjade, is available in the US and is becoming available in many countries around the world. Blood safety has also improved tremendously, eliminating new cases of hepatitis, which were once routinely transmitted through transfusions. Lisa contracted hepatitis C in the year before testing began in the US. It eventually destroyed her liver and led to her death. With testing of blood, thal patients are far safer than previously.

Please do not lose hope. You will find that raising a child with thal does present many challenges, but in today's world, a fairly normal life is possible and and life spans will continue to also become more normal. Where in the past, few patients made it to 30, now there are patients twice that age. The prospect of a cure is also becoming more likely with advances in genetic medicine.

Your child needs you and she needs you to be a strong, loving mom. She is a newborn and these days are so important in terms of bonding. Please realize that your daughter will live and may possess special traits as many thals do. Lisa's mom once told me that all thals have a special talent and my observation is that this is true. Lisa's talent was music and you will find many thals who are very intelligent or have other real talents. Appreciate the miracle of life that your daughter is and nurture her. Make sure she has every opportunity you can give her, just as you would any other child. You will be amazed at the special child you have brought into this world.

Hi Christine,
Congratulation you have a precious baby girl.Yes it's a challenge that she presented herself with some and upcoming difficulties with her health.
Remember your daughter has as much chance at life as anybody else .I believe in destiny and I also believe that we all are born for a purpose.even a perfect healthy child can encounter health problems or an accident ,so, we just don't know what tomorrow brings.
Enjoy your time with her and love her the best way you can, you and your husband will find the strength and guidance as you continue your journey as parent.
these days research in medicine and treatment is advance,Please have faith and hope for the best.I wish you three goodluck and happy times.

Hello Christine,

Welcome to the site. This is an amazing sites and you would be able to find a lot of your questions - answered here. There are a lot of Thals who are members and might be able to share their experiences.

Today, Thalassaemia Major, which was considered a fatal disease years ago, can be effectively treated conventionally by regular blood transfusions and iron chelation.  Many patients of Thalassaemia Major all over the world are now living in the fourth decade of life.  Most of them are absolutely healthy, while some are married and even having their own children.  It appears that many of them would live for normal life-span.  Few deaths that have occurred despite regular therapy, are due to either non-compliance with the treatment or post-splenectomy infections

Also, as Sajid mentioned Bone Marrow Transplant is an option. For transplantation, there must be a sibling (brother or sister) whose tissue typing (HLA system) matches with that of the patient.

It appears that bone marrow transplantation can have a very high rate of success (over 90%) provided the child has: Normal Serum Ferritin, normal liver function and liver size

Here are two points you want to keep in your mind, when those negative thoughts strike your mind

1. Your daughter is likely to be physically normal provided you follow the instructions for compliance to the treatment. Children of Thalassaemia Major have normal mental development and are not poor in their scholastic performance in any way.

2. The child should neither be over-protected nor neglected. She should be made to feel comfortable and mixing type.  Phychological problems are bound to mount during adolescent stage and they should be tackled carefully.

We are lucky to be in this generation where we can talk to thousands of people and they can share their experiences. Today, we can go to the internet and ask a question and we might get an answer within few hours. Think of those thals who are in their 30s who would tell you what stress their parents went through and what challenges they had to go through as at that time Thalassemia was NOT well known and some parents were even said that your child might hardly live few years. Today, there are Thals who are in their 50s and that is a great news for us all

Keep faith and enjoy your new angel. She needs you and I am sure with your concern, you definately love her - so just try to think positive and accept the new life (Your daughter) as a Duty and Perform it

As Kathy rightly said, think of a child who might be born without any problems and might be disabled at a very young age and NOT able to move on it's own. Thals can do everything on their own, so overcome the sorrow and fight it. I know it is tough, but our crying is NOT going to solve the struggle.

Life is a challenge --> Meet it
-Narendra

Hey Guys <3

thanks so much for responding! i truly mean this when i say how much your optimism means to me and my family. i had tears in my eyes reading your posts and for a moment, i had not a care in the world! this site is truly amazing and until now i didnt think i had anyone to vent to!
im in the u.s. (arizona to be exact). i have a few more questions if that is ok??
1) is the newborn screening test acurate enuff to detect thal major?
2) is there a "lesser" severity of the major? or does everyone need the same treatment?
its so confusing b/c the day i came home from the hospital,(friday night actually) i get a phone call from lauryns pediatrician (5:47 pm)!!! saying she was thal major! IT WAS THE WEEKEND!! what did she expect me to do? she said she made me an appointment to see a hemotologist that monday to "confirm'' the results. I thought you either had it or u didnt. whats with this confirmation???
so we see the hemo. and he says he needs his own testing done to make sure there wasnt a mistake made. he said hes seen it before where the tests for this are mishandled and there could be a possilbilty she doesnt have it. my husband and i banked her cord blood and told the dr we' have viacord destroy it. he said no no no dont do that until we are positive. MY PROBLEM WITH THIS WHOLE THING IS DOES SHE HAVE IT OR NOT?  what are they looking for? why did they call me unless they were positive she has it???we now have to  wait until this wed. to get the final results. these past 10 days have been the worst of my life so far. the reason they suspect her having it is b/c she had 100% fetal hemoglobin before we left the hospital. i thought it was cut and dry. im angry mainly b/c i was told over the phone by my pedi.(who knows nothing about this condition might i add), on a friday night when i couldnt do anything about it.PLUS its still not guarenteed she has thal major.... can anyone shed some light as far as is there a possibilty of the test being read wrong>?can it be intermedia? can it be nothing at all? did the drs do the right thing by calling me and saying she has it when its not positive yet? i am so sorry for ranting, but its so frustrating b/c i feel helpless an im not getting answers!

thanks again,

christine

Dear Chrissy

Congratulation for your sweet angel and welcome to the site.

I know how you feel and how heart aching this is.  I have the same situation like you, but it is my son .  But believe me you will be strong and don't stop reading or asking because it helps a lot.

To my knowledge and you have to refer to a doctor, that at this age, all new borns have the F hemoglobin and this is normal. At the age of 7 to 8 months babies start to produce the adult hemoglobin gradually which will replace the F hemoglobin.  At this age or by the end of the first year when they fail to produce the adult hemoglobin they could be diagnoised as thal major.  When i knew about my son , we wanted to investiagte all the children of my family since it is a genetic disorder.  My nephew was 8 month and the doctor said that it will not be accurate to know from the blood picture if he has the trait or not because he needs another year to get rid completely from the F hemoglobin. 

Chrissy, i think what you should do is the gene test to tell if your daughter has normal or abnormal genes.  I don''t think blood test is accurate at this age at all

Hope what i said could be of any help to you. 

Take care

Manal

Hi Christine,

Manal is correct. A check of the Hb now will reveal fetal Hb because that is what newborns have. Only genetic tests can give you the whole story right now.

I recently directed another member to Phoenix Children's Hospital  and she seems to be happy with the help she found there. I would suggest contacting them. Also, you can contact Eva Chin at the Cooleys' Anemia Foundation and ask for referrals in your area. She will be happy to help.

 eva.chin@cooleysanemia.org

It is possible that your daughter is intermedia also, as you said. Only thorough testing will tell.

I cannot overemphasize how important it is that you accept and fully love your child at this young stage. It sets the tone for much of what will come. Hug her, cuddle her and love her. She's your special gift and she needs her mom to love her 100%. And please breast feed her if possible. It makes a big difference in many ways.

If she is a major, please take heart in that it is known early and she can get proper care from day one. This makes a huge difference in development and a thal child treated early will develop far more normally than one who isn't, and have far fewer problems.

STOP STOP STOP SCARING
                Dear may be what am going to say is very deficult and you can't absorpe it but thanks your GOD you have this site and thenks your GOD your child is born now not before 10 or 20 years a go ,,,
     FIRST:calm down SECOND: think a bout your child and don't loose hope as sajed say the Science not stoped and every year they descover a new things... for example my son i made for him an bone marrow transplant in 2002 but the rejection is happened so we go back home suddenly in 2005 mars Dr.Paola Polchi she call me and taled me we are going to use anew protocol we are going to use P.B.S.C (prepheral blood stem cells) and we did it off course we have alot of problem but we accept the challenge go a head dear  and wait what the Science will do...  but now just give your child just love it's more important than food ...GOD HELP YOU AND AM GOING TO PRAY FOR YOU
                      KHALIFA

Chrissy.
WE are here for you and you are welcome,you dont need to apologize.Friends help one another.
I personally knows how fustrated it is undestand the doctors,that is because each one of them has differents views and diagnosis,keep on asking question and search for the best, your daugther is worth all the inquiries.
Good luck.
Kathy

hi,and welcome to this site!
I also have thal major im now 27 years old and i started iron chelation when i was 3.If your compliant with the desferal and do everything your suppost to then you can have a "normal" healthy life.I read what you had written about your daughter and i know it must be upsetting for you.Try to enjoy her as a newborn and try not to think of the thal.I now also have a child of my own a toddler whos 2 and i can understand your pain.stay postive!

Hi Chrissy,

Lauryn is sooooo cute :smile2. We understand how you feel but enjoy your baby. She can lead a normal life with regular trans and now that exjade is in it should be better. Be there for there and remember that she was meant to be with you. I know how it feels but believe me you will come out of this and do fine. We are all there for you and Lauryn and your family :hug.

Lots of love and hugs for Lauryn

Namitha