Tuesday, November 20, 2012
Day +119 XXWHY???
Almost nine months ago, when we found out that Elena had indeed relapsed, we said it felt like we were in the ocean.
From February 27, 2012:
"One moment, we are standing at the water’s edge, feeling ok. The next moment, we are being knocked down by an enormous wave, gasping for air, body aching, struggling to stand up. Then, we find our footing and stand, only to be knocked down again by the next thought, feeling, or action."
Today, and so many days since then, we have felt the same exact way.
We feel that way today because we were told that Elena's most recent chimerism test results show that 99.5% of the cells in the sample were XXY (donor cells) and .5% were XX.
What does this mean?
Elena's cord blood donor's baby has Klinefelter syndrome.
Klinefelter syndrome is a genetic disorder in which there is at least one extra X chromosome to a normal human male karyotype, for a total of 47 chromosomes rather than the 46 found in genetically normal humans. While females have an XX chromosomal makeup, and males an XY, individuals with Klinefelter syndrome have at least two X chromosomes and at least one Y chromosome.
After Elena's doctor shared this news with us, she said that this should not have any affect on Elena. While it shows up in blood testing, it does not affect her genetic makeup. The two things are completely different.
It is so weird and strange and does not make any sense. After today's clinic visit, we once again have more questions than answers.
Why did Elena's doctors wait almost two months to tell us these results?
Why do companies not screen cord blood for genetic disorders?
How many cord blood transplant recipients have also received cord blood with Klinefelter syndrome?
Can any physician anywhere tell us if it could have a negative effect on Elena?
Does any of this really matter?
As if that wasn't enough to deal with, we also have the added factor of the .5%; that one cell in the sample of 200 was XX. That could mean one of two things. From the Oncology Cytogenetics report: "The single XX cell may be of patient origin (Elena - female); however a donor cell with artifactual loss of the Y chromosome cannot be ruled out. Repeat testing to evaluate engraftment status is recommended." How do you lose a Y chromosome??
So, Elena will have another chimerism test on December 3rd. The results of this test will take about two weeks. We do not want Elena's blood cells to be in her body. We want 100% donor cells.
How are we feeling?
We are feeling all of these things.
We are also feeling thankful, grateful, and hopeful.
We are thankful for each new day.
We are grateful that we have friends, family, and strangers praying for us.
We are hopeful that even though we do not know what lies ahead, God does.
We are trusting in Him.
We are praying and believing.
We ask for you to do the same.
“For this reason I kneel before the Father, from whom his whole family in heaven and earth derives its name. I pray that out of his glorious riches he may strengthen you with power through his spirit in your inner being, so that Christ may dwell in your hearts through faith. And I pray that you , being rooted and established in love, may have the power, together with all the saints, to grasp how wide and long and high and deep is the love of Christ, and to know this love that surpasses knowledge – that you may be filled to the measure of all the fullness of God.” Ephesians 3:14-19