around sick people (coughs, fevers, etc.) Her bone marrow does not function properly. She has an absurdly low white blood cell count- a fever will land her in the ER. Both Michael and Amri have been diagnosed as GATA2 deficient. He is fine for now, not showing any symptoms, but will continue to be monitored. We are optimistic that our team will take great care of Amri and Michael!
Hava (our 12 year old) was also tested- she is unaffected.
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The Schedule: We went to the National Institutes of Health (in Maryland) in early summer for Michael and Amri's initial barrage of tests. Amri and I will returned to NIH for 2 wks in early fall for her fertility preservation. After that, chemotherapy and transplant can be scheduled- likely this winter. Bone Marrow Transplant takes 100 days, and will also be done at NIH. All 4 of us plan to be will be there the first month, while they "exchange" her immune system. After the first month, she will be switched from in-patient to out-patient. Amri and I will stay at the inn on the hospital grounds for her daily appts for the remaining 70+ days. Michael and Hava will return home to Texas for work and school, but fly up for frequent visits.
For now, Amri sees her local hematologist every 3-4 weeks, an occupational therapist for her lymphedema, and has started counseling. (The counselor can also see the rest of us.) Post-transplant, Amri will visit NIH annually for 2 years. Michael will see his local hematologist every 6 months, and NIH yearly, indefinitely.
Note- This is Amri's senior year. There's a tutor at NIH to help her keep up with school work, but she will not be able to attend any of the spring events- like her prom or her senior band to trip to Disney World.
What is NIH? NIH is the world's largest biomedical research institute. The Maryland campus is home to the world’s largest clinical research hospital. Patients voluntarily participate in clinical studies.
Backstory: In January, Amri had a routine dr appt, where she was checked for anemia. Her bloodwork came back wonky so we had to go back, and when they couldn’t make sense of her results, they referred us to a hematologist. Our suspicions had been aroused, so in the wait before her first hematology appointment, we reached out to the dr at NIH that cared for his mom and his aunt so long ago. We had Michael tested for the disorder they suffered from. After an intense month of waiting, bloodwork revealed that Michael is GATA2 deficient, and that also turned out to be the cause of Amri’s issues.
More backstory: Michael’s mom, Irma, was often ill (hepatitis, pleurisy, leukemia) and was sent from dr to dr, and given a vast array of meds- some of which did more harm than good. At some point, she was referred to NIH, where doctors were studying similar cases. They determined that her weakened immune system was caused by a genetic disorder they were researching. She became part of the national study. It was also determined (posthumously) that Michael’s grandmother likely had the disorder. Sadly, Irma passed away in 1997. Later, Irma's youngest sister - Michael's aunt that we lived with for a while, whom toddler Hava called “Lovie”- began to show symptoms and was sent to NIH. Unfortunately, Lovie passed away in 2010. Just a year later -thanks to research patients like Irma and Lovie- the source of the disorder was finally identified and given an official name: GATA2 deficiency.
They have come a long way in understanding GATA2 since 2011. The bone marrow transplant will replace Amri's faulty bone marrow with healthy marrow and repair her immune system. The best time to do this is before her immune system has been attacked with heavy illness.
What is GATA2 deficiency? Follow this link to learn more (https://www.niaid.nih.gov/sites/default/files/GATA2-Factsheet.pdf) Symptoms can vary, so please know Amri does not suffer from them all. She has a low white blood cell count, and lymphedema*. Michael doesn't show any symptoms. Irma & Lovie had many- some shared, and some the other didn't have.
*Amri has had lymphedema since she was 10. Drs didn't know why she had it- and now we know. For more info, see Update #1 "Amri's Lymphedema".
Michael: Several times, as a kid, he was brought to say a final goodbye to his mother. Miraculously, she would recover and come home. Having to repeatedly face such trauma, you eventually harden yourself, and then feel massively guilty for it. You punish yourself. It affects you in unimaginable ways. I don’t know why no one ever took him to counseling. Michael’s mother passed away when he was 17- not a boy, and not yet a man.
I met him when we were 18. We hit it off immediately- became best friends and then roommates for a year. We never dated, simply professed our love for one another and then he proposed to me. We were married in 2000. I have loved and cared for him for longer than his mother was able.
He told me how people changed when his mom was sick- to them she stopped being Irma, she became a manifestation of her disease. Her illness not only robbed her of her health and spirit, but also her individuality. It stole his childhood, his mother, and his happiness. He decided her never wanted to be tested.
Amri (which is Irma, backwards, by the way) was born in 2002. She lit a fire inside him, made him realize his life had purpose and meaning, and she somehow healed a wound that had been festering inside him since he was a child. He is a wonderful father and our girls both just adore him. When Amri’s bloodwork came back weird, we knew we had to give the doctors a starting point at figuring out what was wrong. The door we assumed closed with Lovie's passing, was opened once again.
It is important to him, that as long as we are able, that our day-to-day family life remains the same.
Michael will be participating in the NIH GATA2 study, to help them understand why some people have symptoms later in life than others, and to monitor his own health. It is possible he will need a bone marrow transplant in the future.
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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 is 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.
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How You Can Help:
-Don't be weird. It's fine to ask how we're doing. We're pretty darned good right now, honestly. We just don't want people upsetting Amri- she's handling everything so well. She's a strong young lady. She's excited about the new school year and her senior marching season.
-Have airline miles you can donate? The current program at NIH will cover the cost of getting a patient/guardian there and home again- but they cannot pay for repeated flights back and forth with additional family members. If you can help Michael and Hava with flights, please let us know. 4 months is a long time to be separated.
-Support my (Mandy's) job. If you know of a business/parking lot/school/church/etc. that hasn't converted to LED lighting, let me know. I work 100% on commission. Your referral could help our family in a considerable way. I should still be able to work from NIH.
-Donate to our GoFundMe. https://www.gofundme.com/f/our-gata2-deficiency-journey
We plan to use GoFundMe to pay for flights, our numerous local appointments (hematologists, immunologists, counselors, general practioners, etc.), Amri's wig, medications, living expenses in Maryland, and other things related to our GATA2 journey. We'll save any remaining funds for the future when Michael may need a bone marrow transplant. Even $5 helps, and we are so, so thankful for every penny.
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 like our address- CarrascoParents@gmail.com
-Once the 100 days begin, send us mail and care packages at NIH (details later) Amri likes to crochet, craft, & read. UberEats gift cards would be nice, to get non-hospital food delivered to us. After Michael and Hava are home again, make sure they have meals. Family members can make sure Hava has friendly faces in the audience during her performances.
-Sign up to be a donor at Be The Match https://bethematch.org/ Amri does not currently need someone to step up for her (we'll let you know if that changes) 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. 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!
Thank you for your love and support! -Mandy, Michael, Amri, and Hava Carrasco
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