Diagnosed… And then Rediagnosed… And Then…

In 2010 we saw an adorable picture of a little girl with a sucker in her mouth! She immediately caught my attention. Her eyes looked straight into mine and they were calling out for a Mommy and a Daddy. I read her short bio and the word cancer was in there. I immediately said to myself, “Nope, can’t do that…” and then I wondered who would be the family that would step forward? I prayed that someone would bring this beautiful child home.

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Fast forward 6 months, we were in process for our Luke but we had an unsettled feeling. There was another child waiting BUT who was it? We looked and looked but our child was nowhere to be found. We waited and prayed and then there she was… little Arizona with the sucker in her mouth. We prayed about it and that evening when hubby came home he uttered the exact same words that God had placed in my heart that day. “She needs to come home!”

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We knew very little about Abby’s situation other than she needed blood transfusions every 6 weeks and that she was diagnosed with MDS, which is a preleukemia diagnosis. I asked her orphanage to transfuse her right before gotcha day so she would feel as good as possible- they obliged! They were so happy she had a family and would have a chance at life. As the three weeks in China went by Abby slowly faded. Her coloring changed to a pale yellowish, her lips were no longer pink, she was tired and a bit ornery. I could tell she was not feeling well.

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When we got home we went straight to the Pediatric Hematologist. Her hemoglobin was about 6 and she was wiped out. She was afraid and had no idea what they were going to do to her. She cried and moaned in fear. It was a very sad and hopeless cry… She did not care what the translator was saying- she had her memories of what it was like in the hospital in China – all alone for many days (5-7 days), getting a transfusion… That is how they did her transfusions in China. Nobody stayed with her, she was an orphan and they could not spare the staff or the money to have someone be there for her, she was all alone and scared.

Our Hematologists quickly transfused her (it’s about a 4-5 hour process) and once again the color returned to her cheeks and she had a smile on her face. She was surprised that I stayed there and didn’t leave her side. She was surprised that she got a toy and that we colored, painted, played with toys, looked at books and watched TV. She was thrilled when we left together and when we went home together!

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Once Abby was home we found out she needed to be transfused every 3-4 weeks.

Abby has been home now for 2.5 years. Throughout this time she has had her diagnosis changed 6 times.

1. It started out as MDS (Myelodysplastic Anemia) in China.

2. It was confirmed as Myelodysplastic Anemia at our local University and Congenital Sideroblastic anemia was added.

We immediately had an appointment to discuss a bone marrow transplant for Abby. It was planned to be done as soon as we got the excess iron out of her body.

This is called Chelation and it is necessary because whenever someone is given another persons blood their body is unable to breakdown and excrete (pee out) the other donors iron so it is stored in the body. No big deal if you have one or two transfusions BUT those having regular transfusions have an extremely large amount of extra iron that is store in their body. This excess iron can be stored in the liver, pancreas, heart, brain or other major organs. Abby’s was stored mainly in her liver and pancreas (if you have to pick these are the best 2 places to have it stored).

We had a plan and we were good to go! I prayed about the BMT (bone marrow transplant) and how our large family would cope with it. It is not a procedure to take lightly. It can be life saving as a last effort to help a patient/child but the statistics are not as favorable as we would have liked. With prayer and counsel we decided we would only do it as a last effort to save Abby.

Our Hematologist studied at Boston Children’s and wanted to send Abby’s blood there for testing so we agreed.

3. They determined she did not have MDS and that her diagnosis was Congenital Sideroblastic Anemia.

WOW! We were shocked and thrilled! Praise God! This was such great news!! There was a weight lifted off our shoulders! The BMT was looking less and less necessary!

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It was also determined that Abby’s chelation process was going very well and the excess iron levels were decreasing at a good rate! Abby wore a backpack containing medicine in it. She had an IV in her port. For 48 hours every 2 weeks she did this. After 6 months she no longer had to wear the backpack and have with the IV. Now she drinks orange juice with exjade in it, every morning. She is a trooper and doesn’t complain.

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Six months passed and it was time for another round of testing.

4. Once again our local University said she had MDS. Our hearts sunk and I began to feel fearful. I lost sight of God’s comfort and HIS capable guidance and I found myself teary and weakened.

Then, a sample was then sent on to Boston Children’s again.

5. Once again came back to us with the diagnosis of Congenital Sideroblastic Anemia and said that it was NOT MDS. We celebrated and exhaled!

Soon after that we had a proposition. Boston Children’s hospital was conducting a study and asked if they include Abby’s blood sample. We agreed!

Months passed and we forgot about it.

At one point we said to our Dr. “Medicine seems to change so often. We are going to wait to see what other research is out there and then make decisions on how to best treat Abby’s condition.” She looked at me and said- “Sadly, this is so rare there is no other research. There may not be another person that has what Abby has and if there is we may never find them.”

Gulp, that put it all into perspective.

We knew who was in control of all of this- our God. Our adoption of Abby. Her health journey- it was all HIS story, not ours. Whatever decision we may think we had were for HIM to decide. We were comforted knowing HIS hands were all over this…

And then we got the phone call and heard what diagnosis #6 was…

6. Jean, this is Abby’s doctor, “We have some interesting news from Boston.” I have goosebumps and tears as I type!

Abby has Beta Thalassemia. She has a rare form of it that presents itself a little differently than the typical Beta Thal. But they were able to find a mutation on the globin gene and she went on…

In this same study the Dr found one other little girl with this mutation so he decided to check the rest of the samples and see if any of them also had this mutation. Abby’s was the only other one that had it.

About now you are wondering “Hmm, is this good news or bad news?

This is GOOD news!

Abby does not have MDS!

She does not need a BMT.

She is not preleukemic!

We are now able to follow the Thalassemia protocal. We have some answers and direction on how to care for her!

Abby is doing wonderfully now! She is healthy and happy! We are so thankful she is home!

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Children with Thalassemia and other blood disorders need to come home. There is a shortage of blood in China and the orphans are the last to get it… Look at the difference in Abby! Look how much she has changed and how healthy she is now! We have seen a miracle unfold right in front of our eyes! Please consider adopting the children with Thalassemia and other blood conditions. They need to come home in order to live…

 

 

Comments

  1. Thank you for posting this. We have been home with our daughter for 3 weeks now. Who was suppose to be Hep. B positive (she is not) She had a MRI yesterday and was diagnosed with Lissencephaly. a rare brain disorder. Today is her 2nd birthday and we are blessed to have what ever time we have with her. You are right, these children need to come home to a family !!

  2. Anne Jutt says:

    What a testimony, Jean! I can’t get enough of your family’s story… it always encourages and challenges me to live big!!!

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