Update on Lauryn

hi to all,

just wanted to give you an updat on Lauryn. we did find out that she IS thal major. one of her drs said they determined this because of the 100% hbf. he only did the hemo. electrophoresis, NOT the dna. he wants an electrophoresis done on my husband and i to see exactly what mutation we have.I THINK THEY SHOULD DO THE DNA TEST ON HER, RIGHT?
when i asked the md to do the dna test on her, he said it would not be necessary, because it doesnt change the fact she has thal major?!
needless to say i called eva chin at caf,and im getting a referral to phx childrens hopital for a second opinion. NOT TO MENTION LAURYN WILL BE THE ONLY THAL MAJOR KID AT HER DRS OFFICE.
the thing that puzzles me about the fourmds at this office is, they all trained in michigan (where thomas cooley) trained and they seem to be so ignorant. when iasked one of the drs about wheatgrass, he said"what is wheatgrass?".. ummm shouldnt he know that? also i asked if i can give lauryn formula with iron..( i cannot breastfeed anymore because of medication i am on) and he said..."that is a very good question, i dont know".
i also am going to try to go to oakland to meet with dr vinchinski, and get his opinion. im convinced she has thal major, dont misunderstand, but i want a professional who knows EXACTLY how to treat Lauryn and i need someone whos knowledgeable about ALL options.
the drs keep talking about bmt, but i know my husband and i will not concieve again,plus.....we wouldnt take the risk. i have so many questions, still... maybe you guys can answer.
if we are NOT doing the bmt, then why cant our family members donate blood? i understand why not in conjuction with the bmt, but why not otherwise??
the direct donor program... i heard statistically its not safer getting blood from someone u know (B/c of the person possibly hiding their business/truth, in fear of denying your child blood in other words GUILT) BUT>>> dont they screen the blood anyway? what if ur family member/friend doesnt know if they have a disease?
the dr also said that there is a 1:1000 chance that my husband and i were misdiagnosed and that lauryn can have a "lesser severe form of major". ISNT IT BLACK/WHITE???whats with this new possibility?
funny thing is that i am RELIEVED that i know what she has and we dont have to wait/wonder anymore.
i know now, what needs to be done and it is what it is. THERES NO CHANGING IT,JUST DEALING WITH IT.everyone has a purpose, and maybe lauryns purpose is to pave the way for a cure... who knows?? but i will be an advocate for this condition any way possible.

take care

christine

Hi Christine,

I am new here ... it's ironic, but it is a relief to know what your baby has. I felt the same too yesterday when they confirmed what our baby has (although it was a foregone conclusion - but I still wanted to know for sure).

my daughter has also been diagnosed with beta thal (major or intermedia, we do not know as these are clinical presentation of beta thal), but we do know for sure that she has compound heterozygous beta thal - both here beta globin generating genes are mutated. Her newborn screen for bloodwork (at 4 days) had come back with 100% HbF, with no traces of either HbA or HbA2. It took two months from that time, till yesterday (and after numerous blood extractions from our tiny bundle of joy - my wife and I cried a lot when she cried out in pain when she was poked with needles) after electrophoresis and genetic testing (all three of us) that we finally knew (although we knew that she had the severe for of thal beta since her HbF was 100% - and we found out that both of us were heterzygous beta thal silent carriers - that trait and not thal major/intermedia).

btw, my daughter is mainly on breastmilk, but my wife has to supplement her at least once a day with formula. Is it still safe to give her the formula? What is this wheatgrass that you had mentioned in your email ... can you please provide some more information. I will ask the doctor who is treating her regarding this.

take care,

Bostonian_04

Chrissy,

Do definitely see Dr Vichinsky. See if he can put Lauryn on a comprehensive program through your local medical center.

The lesser severe form of major is intermedia. It is most likely too early to determine what form she has, but testing of yourself and your husband may shed some light on the severity of thal that you might expect.

I would advise against formula with iron. In the US you need a prescription to get formula without iron, so please ask your pediatrician for a scrip right away. Adding iron to her diet will only complicate things.

I am really happy to see how much strength you have found being among others who are here to lend their support. I am very proud of this aspect of our group. The support shown is tremendous!

hi boston,

please dont laugh at me, but im not exactly sure what wheatgrass is... all i know is i heard a few people talk about it on here, and i suppose it decreases iron in the body? i think they are capsules?
im sure if u ask someone else on this forum they will be able to help. they are much more informed on this topic then myself.
(thats why i asked the doc...hoping he could tell me about the wheat grass)  

i know EXACTLY  how u feel regarding your tears when ur daughter was poked. my lil one is 3 weeks old and going thru tests since shes 4 days old. i wanna scream when she crys. i would do anything to take it away.

im still learning about genes and mutations, so please forgive me if im not familiar with your daughters specific condition.

and Yes, it is safe to give her formula.(with iron also) i asked another thal mom and another hemotologist.  of course when she transfuses, that is another ballgame.

question... did they suspect your daughter was thal soley on the 100% fetal hemoglobin???

Hi Christine,

When my daughter's newborn screen came out negative for HbA and HbA2 (she had 0% of both), her pediatrician asked us to repeat the screen blood test. When the results from that confirmed what the initial screen report had indicated, she referred us to a hematologist.

Based on the screen report (100% HbF at 4 days and again at 7 days), the hematologist told us to be prepared for the worst. She then proceeded to get the electrophoresis done and asked us to get the genetic test done (for all three of us) to determine the severity of our daughter's condition. The electrophoresis results also came back with ~99% HbF. This was around a month back. And then finally, yesterday our genetic test results came back, which confirmed that our daughter has beta thal (and not the trait) and that both my wife and I are beta thal carriers.

Take care,

Bostonian

Hello Chrissy,
I am sorry that your  worst fear has been confirmed,now you know that your daughter will need extra medical care and the good thing, is, she is facing a possible cure , it is bitter sweet news
None the less she is an adorable little girl ,given the love and care she deserve she will grow up to be a beautifull young woman.I admire your strength and determination .You and your hubby are not alone you have Pschological  support from this website and by the sound of it we all are praying for our younger member little Lauryn.
 good luck and may god bless you all.

Hi chrissy
Welcome Bostonian

You will find a post by Sajid about his wheatgrass projects in the section of ''toward a cure''. It is very helpful and interesting. Also there is a site from where you could buy it and it is www.wheatgrassactive.com
Wheatgrass is said to increase the production of the F Hb in the body with some patients.
I wanted to get it and asked a friend in Australia to get it for me but he found that the tablets has iron
( in small amounts while the spray and syrup does not if i am not mistaken )

Later in my appointment with the doctor, i asked her about it and she said that it is of no use as she researched this matter with a couple of Indian doctors who were invited by her to talk about wheatgrass in one of the conferences. Actually i don't know if it is efficient or not, but that is all the
information i know .

Wish it could be of any help
Loveyou all
Manal

Well put Kathy!

Chrissy and Bostonian, wheatgrass is simply a type of grass!

It is thought to increase the time between transfusions in some thal patients by increasing the production of foetal haemoglobin (HbF).  HbF is the haemoglobin that our bodies make before we are born.  After this time, it usually gets 'switched off' and our adult haemoglobin (HbA) takes over.  If you have a change in your adult haemoglobin genes (for example, beta-globin), your body can't produce HbA that works.  So if it is possible to turn the HbF genes back on, this might solve the problem.  As Manal has stated wheatgrass seems to help turn HbF back on a little bit... for more info visit:

http://www.wheatgrassprofessional.info/Letters/letter_july04.htm

Please bear in mind that this research is still in its early days, it won't cure thal but may help a bit! - this seems to vary from person to person.

SalD

Chrissy, I know I have spoken to you already, but I don't believe I've given you a proper WELCOME to the group.  Glad you are here with us.   :hug

The pediatric hematologist that ultimately takes care of Lauryn should most definitely know more about Thalassemia than your current doctor does.  I would take her elsewhere.  Thalassemia is becoming widely known these days, and there are more doctors that are treating this disorder.

I would decide against the formula with iron, as its been known to make matters worse with Thalassemia, no matter the form (minor, intermedia, major).

As for family donating blood, some doctors decide against it for many reasons.  One of them is definitely the reason you stated.  Another reason is that some family members will obviously carry the Thal trait, and they may not carry a sufficient amount of hemoglobin.  Also, if a child is going to receive ongoing transfusions, some doctors do not think it's a good idea for them to come from the same group of people all the time.  My mind is slipping, but I think it has to do with reactions and the child's body becoming sensitive to other's (outside the group) proteins and building antibodies.

I'm not against directed donors, as I've had them myself for many years, but now that I have switched hospitals, my insurance will not pay for it.   

I would definitely get some other opinions for Lauryn.  Good luck with everything, and we are always here when you need us.   :hug

Hi Chrissy and Bostonian,

I am sorry for the babies, but again with good treatment they should be able to lead a near normal life. It is important to start thal management from the beginning so that an even keel is maintained throughout. Regular checkups with the hematologist should keep them in good health.

Take care of the babies. Good luck babies  :hug

Peace to all.

Namitha