Greetings Earthlings

Hello to everyone,

My name is Eric, I live in Greece with my wife Amalia and our wonderful daughter Sophia.
Sophia is the pride, joy and love of our life.
She is intelligent, curious, beautiful, gregarious and cheerful.
her natural instict is to smile, be it when she wakes up in the morning or when she meets new people.
I say these things objectively as only a perhaps a proud father can. 
Sophia is 26 months old and has beta thalassemia major.

She was diagnosed December 1st 2006. And on that morning the sky fell on my and my wifes' heads.

We were told by the head of the -quite capable- hematological laboratory in the central pediatric hospital in Athens that despite my having had three previous hemoglobin electrophoresis scans in my life which came out as negative, I had a hidden unusual type of carrier anemia which combined with my wife's quite typical carrier status came out as Talassemia b-major.
Only a detailed molecular test could have brought this up and only if one knew what they were looking for.

This is significant because in Greece we are aware of the disease. Therefore just never ever figured this was the problem with Sophia''s peculiar Hemoglobin readings.

I remember that we were immediately sent over to the specialised Unit that exists in the hospital to meet with the head over there.

This special unit is in a building about 50 meters away. We also had to go down two flights of stairs from the office we were.
To reach the staircase we had to cross a room filled with children. And I leaned over to my wife -we were clutching each other - and said "Not here, we don't want to frighten the children".

I think I was speaking for both of us.

I honestly think I was in and yet not in my conscious self.. It felt like being drunk.

In spite of my age -I'm 32- me and my wife (Amalia is 29) have battled serious disease.
But Nothing prepares you when it is your child.


So, deep breath.
We dived into the unknown sea.

We started transfusions.

As an added bonus, 6 months into transfusions Sophia had a complication and suddenly she had a reacton to the blood she was receiving. he hb levels where just plummeting.  A rare sort of hemolytic anemia occured. Is spite of Coombs tests, we havent been able to determine whteher it was due to idiopathic or allopathic reasons. Nevertheless,
As a consequence for about two months she was transfused every 3 to 4 days and went on Cortisone therapy.
Thank God Sophia's body reacted  -just as the doctors were about to increase the cortisone levels.
She still is on a very low dosage (it was reduced gradually) and we are back to 21 days or so. (by the way I think she could go easly up to 28 days but the doctors favour a protocol that will supress her own bone marrow from adding Hb. -The current theory is that this helps with reducing bone deformities, of which she has none.).

We are about to start chelation.

Not looking forward to it. But with God's help and Sophia's smile we'll make it.


We've been looking into gene therapy.

We've been looking into BMT.
Sophia is our only child but -as we always wanted at least on more child- we are thinking of going the extra mile and attempting to have an HLA compatible sibling through IVF (we're trying to find out if we can go for both disease free as well as hLA compatible)
We are learnng about the difficulties and dangers of BMT.

Difficult decisions.

But through it all as a family-in spite of our concerns and, yes, fears-:

We are Happy.
Sophia is the only grandchild of dotting grandparents. She is loved to the nth degree.
He life is filled with games and laughter and parents who adore her.
As I write this, Im looking down on my library floor at the glorious mess my daughter's toys and books are making.


Thank God.



All of the above is by way of intro.


My actual reason for posting is twofold:

A)I've lurked here for months. Actually writing and posting has been extremely difficult for me.
Why?.
 I hate the idea of singalong cuddly group therapies. 
It's just me. the way I'm wired.
I've gone through some stuff in my life and never had I any inclination to discuss my "problems".
For better or for worse my motto is "Deal with it".

So when Sophia's illness came along, our instinct was to inform everyone -and everyone has been just Great and supportive about it- but then to emotionally circle the wagons. Nothing more to say.

Which is OK.

But for one thing:

When it's your child, the hard nosed character just doesn't work.
You  can be very afraid. And alone with your thoughts

And while I still might not want to get into a group hug... I can say that in the dark tea time of the soul this site has been a place where I have seen the concerns of my mind reflected. Questions echoing my own. Common hopes.

It's good to know you're not the only one with these concerns.

So kudos to this site.

And,

B) After considerable reflection, research and thought,

I have come to this conclusion about this particular disease which you might want to keep in mind:

We are going to beat this sucker.


Just thought I'd let you in on it.




Glad to be in this together with all of you.

Hi Eric,

Welcome to you and your family. As a point of interest, the group hug feel of this group was something that came directly from Lisa, as that was exactly the person she was. Having known her personally, I can attest that she was indeed, the sweetest person, who absolutely loved her hugs. That spirit is embodied in this group and even though when one first comes upon it, it may seem a bit shallow or contrived, I will say from my experience meeting people at conferences and in travel, that the members of this group really are the genuine sincere people that they come off as in this group. I did not come from a background where this is the norm and it has taken some getting used to for me to accept that people can be as nice as they are here, but that really is the case. I think the group as a whole has worked to make this so, as we have previously seen some periods where some forgot what support meant. Another aspect of this is that no one feels pressured to participate and all are still encouraged to make as much use of the information here, that they can. I'm happy that you've decided to post and introduce yourself, as we are always happy to meet all our members, but also because you have brought a unique case to our attention, and this information may prove a benefit to others.

Can you tell us what test was finally used to determine your carrier status and what it is your trait called? Is it a thalassemia mutation or some other genetic variation? The founder of this group, Lisa, was not technically a thal major. She had one beta thal gene and a Lepore gene, and together, they gave her a transfusion dependent state. Anything you can tell us may help guide someone else in the future.

I have to totally agree with you about beating thal. I think that within the next 20-25 years, transfusions will no longer be part of the routine for thal majors. There are far too many technologies that either have begun trials or will soon do so, that will completely alter thal treatment, that I doubt it will even remotely resemble current treatments. I hope this alone can give thals the sufficient hope to take the absolute best care of their health that they can, because things are gonna change big.

And don't worry. If you're not the huggy type, we won't hold it against you.     heheh. I couldn't resist the pun.

Hi Eric,

Welcome on the forum,you can be with all of us on your own terms we'll still be there for you, always,anytime,so don't worry,just tell us more and more about your funderfull daughter Sophia,i love her name, and i am sure she herself is lovely,what is her ferritin level.and how is she doing in growth factor.

Take Care.

ZAINI.

Reply in high embarassment mode:   

First of all, thanks for the hello. Even though I might have inserted my foot in the proverbial mouth. Having reread my post all I can say is that it was 5 in the morning over here after an all nighter at work... 

Andy, I never ever thought that people expressing themselves do so in a shallow way. I didn't mean to imply that there is anything wrong with being emotionaly suppportive and expressive.

Goodness knows that dealing with thalassemia is serious and having a loved one (like a child) can be nerve wrecking for the family involved as well.
Therefore, I'm the last person to criticize the way anyone deals with this reality.

I think that this site is excellent and I was moved by Lisa's life and legacy as I had read those parts.
The hug expression -emotionally expressing your feelings in a publicforum- wasn't intended to comment on the forum and how people post at all. 
Rather I was speaking about my -and I suspect a lot of lurkers'- shortcomings.
My point -which I clearly failed to make- was that I think a lot of people don't express themselves or speak out.
They are wired to "deal" with it in silence.
So,
I'm sure many more people visit this site, take solace from your comments and stories, become informed and then decline to post.

Words are difficult.
But the people who contribute to this forum should know that what they say is important to the rest of us who so far don't speak.

I found that I needed to tell everyone that what they say means a lot. I spite of myslef.

Which is a long winded way of saying:
This site moved me -a person who just doesn't do discussing problems very well- to participate.
I never thought I'd do such a thing.


Enough of that.

To answer a few things.

Our case is also similar to Lisa's. One beta thal gene and one Lepore gene. The peculiarity stems from the fact that the Lepore gene (my gene) was expressed in an unusual way. It's blood work numbers were all borderline not indicative.
The lab actually went into a lot of trouble once they found Sophia's status.
At one point -its funny now in retrospect- they actually tested the parentage as nothing seemed to make sense.

In the end they found it to be case of the Lepore gene that couldn't really be diagnosed by bloodwork. Only through dedicated molecular screening that went looking for it.

In fact the only peculiar thing about me is that my Hb has varied a bit throughout my lifetime, but nothing to write home about -I used to regularly be able to donate blood.
There also seems to be a slight mutation in the way the Lepore in my case is structured.

I discussed this quite a bit with the hematology department doctors.

In Greece -due to high incidence rates- people are generally aware of beta thal, and if not, obgyn will generally demand you do the bloodworks at the first instance a couple will apporach them with a pregnancy.

So in the last 15 years or so there was a lull in new cases.

This has changed n the past few years according to empirical evidence.

In the past few years,doctors in greece are coming across mutations of traits and thal.
While the sample is small, there seems to be a growing consensus on this.

So my question to the doctor was:  What do you do to prevent these things from occuring?

Their answer: You have to test on the molecular level. Especialy if you know for a fact that you have one trait carrier. And even then hope for the best.

I hope the above was helpful.

Dear Zaini,
Her ferritin is now 1750 and we will begin chelation. Is spite of our misgivings we are told that the best way to start is via the traditional pump.

So far -in spite of the cortisone- Sophia has very normal growth levels. Her bone structure is OK.
Our only problem is getting her to eat anything. she is 12 kilos which -for her height- is on the borderline normal part of the chart.
Still, this hasn't worried us yet.

Thanks again to everyone.

Welcome to the group.

Read, post, learn or lurk around, always be assured that you are welcome.

This group is amazing, sharing the problems is not my virtue either. Frustrated with lack of words or expressing my emotions I once posted similar message and guess what, everyone poured their love with appreciatiave words. Its amazing that now i discuss every little detail without hesitation and seek guidance from the group. Posting here is like talking to me sometimes and I enjoy it.

Hi Eric,

Welcome to this wonderful family. While reading your first post, it reminded me of our experience last year as well.  Joining this forum has helped me tremendously . We will also start Iron chelation for our daughter soon. So, we will be going through it around the same time. Hope to see many more posts from you.

 

and a BIIIG 


Couldn't resist giving you a big hug....

Hi Eric,

I didn't mean to embarrass you. Just wanted to give some background on how this group got so compassionate. I guess Lisa made a big change in my own life and she continues to have a positive effect on many people today.

Both Lisa and her dad had beta thal Lepore and both were transfusing majors, even if the literature places that into intermedia category normally. So little was understood about thal back in the days when Lisa's parents first married, that they weren't aware that her mom should be tested, and as it turned out, her mom is a beta thal carrier. Your experience indicates that if there is any doubt at all (lower than normal Hb, for example), that parents should undergo further testing if there is no explanation for whatever symptoms are apparent. Even electrophoresis may not be enough. This should be a lesson to all prospective parents who may fall into a risk category either by ethnic background or prior family history. Not all hemoglobin variants are easily discovered. We see this with alpha thal also. You did everything you could to try and identify whether or not you were a carrier and yet it still wasn't discovered.

This may be a case where it will be up to patients to educate doctors about the possibilities, as most doctors will not be aware of this. As a group and as individuals, we must do what we can to spread awareness and educate others. I hope everyone will do their part, whether personally talking to others or by inviting others to join our group, which is easy to do now that Danielle added the "invite" feature at the top of the page. Invite your doctors to join. Invite your relatives who may be affected. We can have a real impact on the lives of others if we take advantage of the opportunities.

Hi Eric ,
In my experience the person that  doesn't like hugs, needs it the most,
on behalf of our thal family I would like to give you. our first big 
though virtual its sincere and I hope you enjoy it,

And a big huh for everyone too

With love from Kathy

Kathy,

Your messages are always soo heart warming. Thank you for being there for all of us.

Thank-you Hope
 I'm humble and its my pleasure

 
Kathy

Hi, Eric!  So glad that you are posting with us! Welcome to the group. 

Thalassemia is a very scary thing to parents, and it's nice to be able to talk with others that are dealing with the same things.  I'm so glad that you decided to post, and I hope that you are able to take advantage of all the good that this group has to offer you and your family.   

We are going to beat this sucker.

I AGREE!

Hi Eric,

Just wondering who your daughters doctor is in greece? I know of an Australian doctor that specialises in Thal and is living in greece now...

He is in Agia Sophia hospital..Not sure if you go there....But he is one of the best there is there...He has worked his whole life with thals here in australia..and now in greece.

I hope everyone will do their part, whether personally talking to others or by inviting others to join our group, which is easy to do now that Danielle added the "invite" feature at the top of the page. Invite your doctors to join. Invite your relatives who may be affected.

Hi,

The invite feature is really good.

I am thinking of another feature for the people to whom we tell our link vocally, which is to register to one of the free "Short URL re-directors"; because I had given our URL to many people but they end up getting it all wrong either because of the different Thal. spelling (brit. vs U.S) or the singular/plural confusion

Hi Eric,

Welcome to this site.  I can identify with you in so many ways.  My son was diagnosed at 3 months with thal major.  He was born very healthy and was very active, even at the time of his diagnosis.  I insisted that his pediatrician test him - because my husband and I both carried thal trait.  The doctor commented that my did not appear to have thal because he was so healthy and active, but agreed to test because I had requested.  To my shock and horror that night we were asked to rush him to the children's hospital so that they can begin transfusing him because his hg was only 44. 

It took me a while to accept that this was happening, but I dealt with it as best as I could at the time.  I quickly learned that my child was as capable and healthy as anyone else.  I was on thalassemia websites frequently and sent questions and inquiries.  Lisa Cammillera reached out to me many times and suggested that I join a group.  I communicated with her a few times but was very reluctant to join any groups because I did not feel ready - or perhaps by not joining a thal group I was able to continue denying what was going on - and hoping that the next blood test would be normal.  A few years later, when I felt ready I googled Lisa only to find that she was no longer with us.  I was very heartbroken and felt like I had lost a friend.  I then remembered that Lisa had always wanted for me to join a thal group - and what better group to join than this one which is a tribute to her and full of people who now feel like my family - they mean the world to me. 

My son has had many antibodies to blood over the years - so the hospital had to be more selective with his donors.  In 2006 however, he developed a warm autoantibody which would destroy blood cells very quickly.  He has been on prednisone since Nov 2006 - and he is now transfused approx every 3 weeks.  He is otherwise a very healthy and happy little boy - he is very bright, athletic and energetic - and I am very proud of him.  We also have a little girl - she does not have thal at all. 

Welcome once again Eric, I know that you'll find strength and support here.  I also wish your child a bright and healthy future.  I hope you'll be encouraged by the work going on in thal treatment in the future.
 


Sharmin

I am thinking of another feature for the people to whom we tell our link vocally, which is to register to one of the free "Short URL re-directors"; because I had given our URL to many people but they end up getting it all wrong either because of the different Thal. spelling (brit. vs U.S) or the singular/plural confusion

Can you recommend a specific re-director, Sajid?