Parents of thal major baby girl

Greetings everyone!
We wanted to say hello to everyone on this forum.
We became first time parents in September 2012 to our beautiful baby girl, PrincessM.
8 days later we received that shocking first phone call many of you have also, that our daughter's newborn screen flagged abnormal. At the time we wanted to believe that it was nothing, that maybe PrincessM was just a carrier like her mama. Her father was never tested for thal, mainly because he was never anemic, showed no signs of being thal minor, etc. In the United States, and in the state of Texas, the blood work is then forwarded for complete DNA testing and we received the bad news that she has two mutations (beta 8/9 +g and IVS-I-5 G>C).
Needless to say there have been many tears and worries and fears. While doing initial research we stumbled upon this website, and although overwhelmed with so much info, it was a very positive support in those early dark days.

She's now 15 weeks old. She's being seen at Texas Children's. Her hemoglobin at her last checkup was 8.7. Down from 9.5 the month before. It's very frustrating out here. We have one of the best medical centers but not for thal. How I wish we lived in Boston or Oakland where doctors see dozens of thal patients at a time. She's one of a very few thal patients mixed in with loads of sickle cell patients. We have yet to find any local support so we are hoping we can find it here, in addition to making new friends along the way.

Thanks again to Andy and everyone else for all the info offered here. Reading this forum really pushed me and my husband to try and find normalcy in our lives again and enjoy our Princess.
Will be asking tons of advice and questions over the course of her infancy... Talk to you guys soon

PrincessM's Mama

Congrats! You came to the right place and please relax...your daughter is perfectly normal. My daughter has thal major, is 2 1/2 years old, and is full of energy. I know its hard and a shock but try and relax. Research everything you can and ask a lot of questions, especially on this site. Do your own homework and you will realize your daughter will be fine. Everybody on this board is hear to help. Congrats again!

James

Hi Mama of Princess,

The one bit of advice I want to give you is that regardless of where your child is treated, you should still arrange for an annual trip to one of the thal Centers of Excellence. Oakland or LA would be the closest to you. The annual evaluations are critical. This is the most important piece of advice I have for parents and patients in the US. My observation is that patients generally live at least 10 years longer if they are seen annually at these Centers.

James is right. He's been through everything you're going through now and this site has been his guide. The more you learn, the better your child will do. With the advancements in treatment over the past decade and the coming advances, your child can have the expectation of a long full life.

Hi Mama of Princess,

The one bit of advice I want to give you is that regardless of where your child is treated, you should still arrange for an annual trip to one of the thal Centers of Excellence. Oakland or LA would be the closest to you. The annual evaluations are critical. This is the most important piece of advice I have for parents and patients in the US. My observation is that patients generally live at least 10 years longer if they are seen annually at these Centers.

James is right. He's been through everything you're going through now and this site has been his guide. The more you learn, the better your child will do. With the advancements in treatment over the past decade and the coming advances, your child can have the expectation of a long full life.

Dear Andy,

You have stressed on the importance of annual checkup for thals. Can you please specify what exactly one should be checking for during the annual visit. My hemato has not specified anything as such so far beyond LFT, Creatinine and ferritin tests every 3 months.

regards,
Himanshu

I will ask Sharmin to reply, as she experiences this annually with her son. I want to make sure the list is inclusive.

Thanks James and Andy.
Andy, where can I see a list of which hospitals are the centers of excellence? We have friends or family in many states, so it may be easier if we could stay with them when we take her for check ups.

I would also like to know the answers to Himanshu's questions, so hopefully we will hear from Sharmin about that.

PrincessM's Mama

While looking for the list of Centers, I ran across this page at CAF. http://cooleysanemia.org/updates/CompCare3.pdf It lists the tests etc. that are involved with the annual evaluation. We have a list of Centers at http://www.thalassemiapatientsandfriends.com/index.php/topic,3248.0.html

I recommend that all US parents of thals register with CAF. You can contact Eileen. She is very helpful in finding local thal friendly doctors and also providing direction in many areas.
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

Having a comprehensive center oversee our son's care has had a very very significant impact on his health.  We are seen at the Oakland center annually.  Before each appointment we have a panel of tests done here, which are interpreted for us in Oakland. The assessment includes a SQUID test which a measure of iron levels in his liver, he has had a T2* and a dexascan.  We have seen endocrinology and a psychologist during out time there.  Many members of the team are in communication with us throughout the year and they guide our local doctors in taking care of our son. 

I cannot say enough about the importance of being in constant contact with this center and we owe everything to them.  Following Andy's advise and beginning our relationship with Oakland has been the best thing that has happened for us and our child - in terms of his health - since he was diagnosed. 

Best of luck,

Sharmin

Hey Sharmin thanks for your info. We are definitely making a concrete plan to take her out to Oakland. She is not transfusing yet but we want to get the ball rolling and at least meet with the team and let them see her. Will be contacting CAF this week. Thanks again all.

It would be advisable to be seen at Oakland before transfusions start, if possible. There are some baseline tests they will want to do before transfusions begin. Contact should be made even if this isn't possible as they may order some tests done locally, if necessary.

Welcome to Thalpal Princes'M'. My daughter is thalmajor and she is now 6 yrs old. Apart from the transfusion days we completely forget she has Thal. This site and Andy was our rock when we were devasted after learning of our daughter's diagnosis after birth. so, please use this site to get your strength and knowledge.
Welcome once again!!

Thank you Bostonian do you still reside in Boston? It's one of my favorite cities in the US

PrincessM's Mama

Hi Princess'M', yes, Boston is one of our favorite cities too 2 years back we moved to Arizona and now we use Oakland children's hospital for the comprehensive checkup for our daughter.

Hello PrincessM mom

How is your baby doing? Our babies are so close in age so we may both be going through the same thing. Hope she is well. Keep us updated.

BabyI mom

If you have questions about the first few months, expectations, worries , transfusions prep ..anything take a look at the post called Little Ari under the thal major section. I went through this 3 years back as well  but I knew via an amnio that I would be having a thal baby. I spent my pregnancy researching and trying to prep but even then I was a wreck trying to deal with seeing my innocent baby and knowing that he would be gointhrough so much. I remember the emotion of the first few months and trying to get through the initial stages....

I now have two thal children...the second is 15 months.. both started transfusions at 2&3 months...

 you r honestly at the right place for guidance. I am happy to help if u ever have any spur ofthe moment questions as I  know how appreciative I was and still am when I need an answer fast and I can just pick up the phone and call someone who has been through it.