[jenniem]

I have an adult friend with this. She was diagnosed when she was younger and quite ill. She had a tough time getting a diagnosis because it's so rare. But now she has her routine injections and is fine. I remember her discussing it briefly. I'll ask her for details if it will help?!

Everyone is right, Carmen is beautiful!

[dance_muffin]

Carmen is a beautiful little girl. So glad she was diagnosed correctly and is getting the meds she needs.

[giovanni7460]

Carmen is adorable. I am so happy to hear that she will be OK. It seems that you really had grat Dr's. Poor baby for the tests.
Patty

[wvamom]

MK, good to hear from you again! Your little girl is just beautiful--I can't believe how big she is getting! I'm glad that what she was diagnosed with is treatable. Kudos to you for persisting to get the "right" answer!
Carolyn

[SisterBear]

Hi, I am sorry you are going thru this and I am very relieved that Carmen is going to be OK. She is just precious!

I am going to try to answer your question but absolutely do not want to scare anyone. I am actually concerned that the prevalence of rare diseases in Guatemala is not being addressed by adoption agencies. From what I understand, Guatemala seems to have an increase in autosomal recessive diseases, probably because of marrying too close to family lines. For example, if a man and woman live in a small village and marry only within that village, eventually the genes are too closely matched and diseases start appearing (i.e. Eastern European Jewish communities have seen increased prevalance of rare diseases and also the Amish communities). I think the reason we are seeing an increase in Guatemala is because we are adopting these children into the U.S. and they are being diagnosed. I am 100% sure that other countries with isolated populations have the same issues but the children are often undiagnosed.

[mksilvermoon]

Hi Lana

i totally agree with you - IGS is a autosomal recessive disease (rare) - and these come about precisely (from what i have read) because of isolated communities intermarrying over generations. I am not sure how prevalent these conditions are in Guatemala in comparison to other countries? i doubt any significant research has been done. I am deeply relieved that IGS is so treatable - i know how lucky we are - i have been following your blog and you & your Carmen and family are never far from my thoughts/prayers

the heartbreak is that IGS in guatemala left untreated leads to terrible outcomes (brain damage & death). I am going to see if i can find out if Carmen's birthsiblings/cousins have any symptoms to see if they can be helped

access to basic medical care is something we take for granted and yet it saves lives everyday ....

Mary-Kate

[EZ2Luv]

A friend of mines mother takes B12 shots and come to find out she has this exact illness. She is an older woman and was not diagnosed until a few years ago. She is actaully doing quite well and she is in her 70s. It is good that your DD was dioagnosed early and it is an illness that is manageable. It is also a blessing that these children are with their forever families here in the US where such illnesses can be diagnosed early on and treated. Carmen is such a beautiful little girl .

EZ

[jeannecr]

So glad to hear that Carmen was diagnosed quickly and accurately, even though her condition is so rare. I'm impressed by your British health system! She is so lovely.

Access to care is so difficult for the poor in Guatemala. Perhaps in the future, researchers will be able to use information about our adopted children to look for certain diseases there.