On April 2nd shortly after 3 o'clock, the phone rang. It was a number I knew all to well. . that phone call we had been waiting two weeks for.. but all of the sudden, I wanted to set the phone down and act like if I didn't answer .. the results would go away.
However, in reality, I answered the phone. It was Dr. Balbort herself calling me with the genetic karyotype results. So, of course I knew everything was not fine like we were praying.
Just as we expected, Emma's karyotype showed a genetic abnormality. What exactly does this mean?! Is it fatal?! Can she be treated?! Fear rushed through every square inch of my body as I clenched Sami's hand as tight as I could. Sami was looking straight into my eyes telling me, "We can do this.." with the most terrified look in her eyes and I hadn't even told her what she was saying. The bond I have with Sami is so indescribable. She could tell by the look in my eyes-- our lives had changed forever.
Dr Balbort said the results stated that Emma has a deletion of her 10th chromosome somewhere in the 13th band. So her deletion is called a 10p13 terminal deletion. She tried to research it.. The information was minimal because this deletion was discovered in the early 1970's and Emma was the 34th person in the world to be diagnosed with this deletion. Therefore, the information is very limited and leaves a wide spectrum of possibilities for her ranging from a weaker immune system than most children to severe medical problems that could be fatal if left untreated.
This was an answer that led to many more questions.....
10p deletions are quite well researched and info published - they have become one of the slightly more common 'rare' chromosomal disorders. Download free, medically-verified information leaflet from http://www.rarechromo.org/information/Chromosome%2010/10p%20deletions%20FTNW.pdf
ReplyDeleteLove from another 10p13- mother and her gorgeous family xx