Wednesday, September 24, 2008

To the commentor on the last entry

I would really like to speak to the person who wrote about their friend with Rapadilino, please contact me directly at melramirez22@yahoo.com or leave me some way to get back in touch with you here. Elijah is diagnosed with two mutations on his RECQL4 gene. The only three syndromes associated with this gene mutation are Rapadilino, Rothmond Thompson Syndrome and Baller-Gerold Syndrome. Elijah's geneticist says Eli has symptoms of all three. I would just love to speak to someone else with Rapadilino...or a parent or a friend.

To the rest of you: Elijah has a watery eye. Doc says he has a cold in his eye. This afternoon, after the doctor's visit, David and Eli spiked fevers of 101 and 102 respectively. They truly share everything. : ) Anyway, we need a rapid bounce back from this upset.

On a great note, Eli weighed in at 15 poudns 4 ounces today at the doc's office. He's regained any ground he lost during his wrist surgery. Yay kiddo!

Love to all,
Melissa

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