|
This is Pam and Adrian Lahr
and Family
pamlahr@hotmail.com
Almont, MI
USA
Shanna was born in July of '02. She had multiple problems at birth. Looking
back, many signs pointed to NS, but it took 9 mos. to get the diagnosis. I am
in awe of those children diagnosed shortly after birth; at least you know what
you are dealing with from the start! Shanna has the PTPN11 mutation. She was
also diagnosed with the rare form of leukemia, JMML, at 5 mos. old. She went
through multiple rounds of high-dose chemo and a stem cell transplant with her
older brother as her donor and perfect match at only 11 mos. old. She remains
in remission today. Other health issues associated with the NS include:
Pulmonary valve stenosis (corrected with balloon valvoplasty,) 2 ASDs (1 patched
with the Amplatzer; 1 is pending repair,) Oral and feeding aversion with need
for g-tube. We feed her a "blenderized" diet through the tube and since we
started she has made huge strides toward becoming an oral eater. Shanna is also
developmentally delayed. She attends a resource room for 1/2 day and goes to "Begindergarten"
for 1/2 day with an aide. She also gets PT, OT, and Speech at school. For more
info about JMML, go to
www.jmmlfoundation.org . For more info on the blenderized diet go to:
www.blenderized-diet@yahoogroups.com .
|
