Our GATA2 Deficiency Journey
Donation protected
Daddy and Daughter both diagnosed with rare genetic disorder. Michael is fine for now, but Amri (our older daughter) will be receiving a bone marrow transplant at the National Institutes of Health in Maryland. This requires a 4 month stay, beginning January 1, 2020. This is our GATA2 Deficiency Journey.
We have created 2 pages to help with our journey: This GoFundMe (that you're on right now) https://www.gofundme.com/f/nfwzw-our-gata2-deficiency-journey and our medical blog: https://ourgata2deficiencyjourney.blogspot.com/
I apologize, as I have not updated our medical blog in a very long time (since March/April, I think.) I do intend to, but the global pandemic sort of threw a wrench in things.
Amri had her transplant January 23, 2020 and we returned home to Texas midApril 2020. She is recovering well, but will continue being seen by NIH for the next two years, and by her local Dallas team for the next three years. Currently she has an appointment about once a month.
*GoFundMe had a back end transition this fall. That doesn't mean anything now, but to the set of folks that donated around that time- I was unable to send Thank Yous from my app. The situation has been resolved, and if I missed saying it- please know we appreciate you!
________________
GATA2 Deficiency
In the simplest of terms, everyone has GATA2 genes, and everyone's bone marrow produces blood cells. GATA2 helps regulate these cells. Healthy blood cells are needed for a healthy immune system. Amri's GATA2 genes do not function properly, which has caused her to be immuno-compromised, and therefore in need of a transplant. Similar to babies and the elderly, untreated symptomatic GATA2 patients can be critically hospitalized by very common illnesses.
To learn more about GATA2 Deficiency, here is a helpful factsheet. Please know that Amri does not have all of these symptoms- but she does have lymphedema and neutropenia:
https://www.niaid.nih.gov/sites/default/files/GATA2-Factsheet.pdf
GATA2 Deficiency was only officially discovered in 2011. Prior to then, Michael's mother was one of the original patients in this study- when doctors only had a list of symptoms and little idea about a cause. Unfortunately, she passed away in 1997. A few years later, her younger sister became symptomatic and was referred to the NIH study, and sadly passed away in 2010. Just a year later, thanks to these wonderful women -and other brave patients in the study-NIH was able to pinpoint the cause of their immune system failure, and ultimately develop treatment. Medicine has made great strides in the past decade and we are fully confident that our team will take wonderful care of Amri.
Michael has always been pretty healthy, so we had no reason to believe he was GATA2 deficient, so it was fairly surprising to learn that they both have the condition. To Learn more about our personal story:
https://ourgata2deficiencyjourney.blogspot.com/2019/12/our-story.html
________________
Things to be thankful for:
-GATA2 deficiency is rare, most doctors don't even know to check for it. We are grateful we had the knowledge to get Michael and Amri tested. They now both have local hematologists to monitor them. A bone marrow transplant is much easier on the body if you do it while you are healthy, rather than once the body has been beaten down by severe illness.
-Amri was able to get on a preventative medication to keep her from getting sick, a simple pill that- had they had more knowledge in the past- could have saved others.
-Given the wide range of problems GATA2 deficiency can cause, we are incredibly thankful that the 2 main issues Amri has are both relatively painless (low white blood cell count & lymphedema). Many people are not so lucky.
-We are fortunate to be in the NIH GATA2 study. Our doctors are not only leaders in GATA2 research, but also know first-hand how deeply this disorder has affected our family, as they personally treated both Michael’s mother and his aunt.
-We’re thankful that bone marrow wait lists don't seem as long as other transplant lists. The transplant doctor just has to find someone in the existing donor registry that is the best possible match for the patient, and Amri’s transplant doctor said he has a few candidates already.
______________________
How You Can Help:
- Be a friend/check in on us.
Amri is recovering beautifully, and Michael is the same as he has always been. We are so, so thankful.
- Contribute to our fundraising page. Even $5 helps and we are so, so thankful for every penny.
https://www.gofundme.com/f/nfwzw-our-gata2-deficiency-journey Some friends have reached out and said they are uncomfortable donating on line, or do not like that GoFundMe takes 2.9%, and have asked for our address. Please let me know if you'd prefer to mail a donation.
GoFundMe had a back end transition this fall. That doesn't mean anything now, but to the set of folks that donated around that time- I was unable to send Thank Yous from my app. The situation has been resolved, and if I missed saying it- please know we appreciate you!
- Share our GoFundMe. Just remember to include a sentence about how you know us. That part is really important and greatly appreciated.
- Sign up to be a donor at Be The Match https://bethematch.org/ Amri has already had her transplant, but you could save someone else's life. To register, you basically just spit in a tube and send it in. If you match someone, they'll call you up. For most donors, on the day of your donation, they give you meds to up your stem cell production and hook you up to a machine. The machine draws blood from one arm, filters the extra stem cells out, and puts the cleaned blood right back in your other arm. I think you even go home the same day. Easy Peasy!
-Donate blood or plasma. Amri needed both of these during her stay. Countless others could benefit from your donation.
____________________
Thank you so much to everyone who donated airline miles, sent care packages and birthday cards, prayed for our family, or donated to your GoFundMe. <3 <3 <3
Thank you for yourcontinued love and support! -Mandy, Michael, Amri, and Hava Carrasco
____________________
Thank you for your love and support! -Mandy, Michael, Amri, and Hava Carrasco
photo by Tanana Photo
We have created 2 pages to help with our journey: This GoFundMe (that you're on right now) https://www.gofundme.com/f/nfwzw-our-gata2-deficiency-journey and our medical blog: https://ourgata2deficiencyjourney.blogspot.com/
I apologize, as I have not updated our medical blog in a very long time (since March/April, I think.) I do intend to, but the global pandemic sort of threw a wrench in things.
Amri had her transplant January 23, 2020 and we returned home to Texas midApril 2020. She is recovering well, but will continue being seen by NIH for the next two years, and by her local Dallas team for the next three years. Currently she has an appointment about once a month.
*GoFundMe had a back end transition this fall. That doesn't mean anything now, but to the set of folks that donated around that time- I was unable to send Thank Yous from my app. The situation has been resolved, and if I missed saying it- please know we appreciate you!
________________
GATA2 Deficiency
In the simplest of terms, everyone has GATA2 genes, and everyone's bone marrow produces blood cells. GATA2 helps regulate these cells. Healthy blood cells are needed for a healthy immune system. Amri's GATA2 genes do not function properly, which has caused her to be immuno-compromised, and therefore in need of a transplant. Similar to babies and the elderly, untreated symptomatic GATA2 patients can be critically hospitalized by very common illnesses.
To learn more about GATA2 Deficiency, here is a helpful factsheet. Please know that Amri does not have all of these symptoms- but she does have lymphedema and neutropenia:
https://www.niaid.nih.gov/sites/default/files/GATA2-Factsheet.pdf
GATA2 Deficiency was only officially discovered in 2011. Prior to then, Michael's mother was one of the original patients in this study- when doctors only had a list of symptoms and little idea about a cause. Unfortunately, she passed away in 1997. A few years later, her younger sister became symptomatic and was referred to the NIH study, and sadly passed away in 2010. Just a year later, thanks to these wonderful women -and other brave patients in the study-NIH was able to pinpoint the cause of their immune system failure, and ultimately develop treatment. Medicine has made great strides in the past decade and we are fully confident that our team will take wonderful care of Amri.
Michael has always been pretty healthy, so we had no reason to believe he was GATA2 deficient, so it was fairly surprising to learn that they both have the condition. To Learn more about our personal story:
https://ourgata2deficiencyjourney.blogspot.com/2019/12/our-story.html
________________
Things to be thankful for:
-GATA2 deficiency is rare, most doctors don't even know to check for it. We are grateful we had the knowledge to get Michael and Amri tested. They now both have local hematologists to monitor them. A bone marrow transplant is much easier on the body if you do it while you are healthy, rather than once the body has been beaten down by severe illness.
-Amri was able to get on a preventative medication to keep her from getting sick, a simple pill that- had they had more knowledge in the past- could have saved others.
-Given the wide range of problems GATA2 deficiency can cause, we are incredibly thankful that the 2 main issues Amri has are both relatively painless (low white blood cell count & lymphedema). Many people are not so lucky.
-We are fortunate to be in the NIH GATA2 study. Our doctors are not only leaders in GATA2 research, but also know first-hand how deeply this disorder has affected our family, as they personally treated both Michael’s mother and his aunt.
-We’re thankful that bone marrow wait lists don't seem as long as other transplant lists. The transplant doctor just has to find someone in the existing donor registry that is the best possible match for the patient, and Amri’s transplant doctor said he has a few candidates already.
______________________
How You Can Help:
- Be a friend/check in on us.
Amri is recovering beautifully, and Michael is the same as he has always been. We are so, so thankful.
- Contribute to our fundraising page. Even $5 helps and we are so, so thankful for every penny.
https://www.gofundme.com/f/nfwzw-our-gata2-deficiency-journey Some friends have reached out and said they are uncomfortable donating on line, or do not like that GoFundMe takes 2.9%, and have asked for our address. Please let me know if you'd prefer to mail a donation.
GoFundMe had a back end transition this fall. That doesn't mean anything now, but to the set of folks that donated around that time- I was unable to send Thank Yous from my app. The situation has been resolved, and if I missed saying it- please know we appreciate you!
- Share our GoFundMe. Just remember to include a sentence about how you know us. That part is really important and greatly appreciated.
- Sign up to be a donor at Be The Match https://bethematch.org/ Amri has already had her transplant, but you could save someone else's life. To register, you basically just spit in a tube and send it in. If you match someone, they'll call you up. For most donors, on the day of your donation, they give you meds to up your stem cell production and hook you up to a machine. The machine draws blood from one arm, filters the extra stem cells out, and puts the cleaned blood right back in your other arm. I think you even go home the same day. Easy Peasy!
-Donate blood or plasma. Amri needed both of these during her stay. Countless others could benefit from your donation.
____________________
Thank you so much to everyone who donated airline miles, sent care packages and birthday cards, prayed for our family, or donated to your GoFundMe. <3 <3 <3
Thank you for yourcontinued love and support! -Mandy, Michael, Amri, and Hava Carrasco
____________________
Thank you for your love and support! -Mandy, Michael, Amri, and Hava Carrasco
photo by Tanana Photo
Organizer
Mandy Harris Carrasco
Organizer
Plano, TX
