California Legislators We the undersigned are in opposition to the ...

Name From Comments
7,394. DANIELLE
TERBORG
WANUT CREEK, CA (continued from previous page)
growing. As the weeks progressed we were heading into
Christmas and the New Year we were moving and my
Husband was getting ready to go to Chicago for training for
his new job. We had a lot going on.. it was crazy!!! After
the first week of training my Husband came home for the
weekend and was playing with our son he had noticed that
when he would cry it appeared to be weak and pathetic.
The previous day my mom had mentioned his constant
cooing .I was staring to wonder but he was eating
,sleeping,normal diapers and normal color. The next day
he wasen't eating as much his appetite decreased and he
was lethargic . I thought perhaps in all the chaos and it
being cold and flu season perhaps despite our best efforts
maybe he was coming down with a cold. Later that evening
we had planned to go to my in-laws for dinner with the
baby while visiting Grandma had noticed that he was
having difficulty breathing. THAT WAS IT!!! I called the
advise nurse and she advised us to get to the hospital
immediately.We wisked ourselves to the emergency room
and were quickly brought back where they began breathing
treatments and oxygen . I held my baby helplessly as they
worked on stabalizing him. My husband and I feared the
worst.It was January 16,2011 my Son and I rode the
ambulance as my husband followed us to Childrens
Hospital Oakland. Where the continued to do everything to
make our son stable and comfortable. There they
specialize in children and were better equipped to handle
his needs.
Here is some info on his diagnosis:
S.M.A.R.D. = Spinal Muscular Atrophy with Respiratory
Distress. SMARD is a neuromuscular condition causing
weakness of the muscles. It is the second anterior horn cell
disease in infants in which the genetic defect has been
defined. SMARD1 is not linked to the SMN1 gene locus on
chromosome 5q13 (classic SMA), but is caused by
mutations in the IGHMBP2 gene on chromosome 11q13.
Despite a substantial overlap in clinical features, the
phenotypes of SMA versus SMARD1 can be distinguished.
In SMARD1, the predominating symptom is a severe
respiratory distress due to a paralysis of the diaphragm.
Most patients present [show symptoms] at the age of 1 to 6
months with respiratory failure and progressive muscle
weakness with predominantly distal lower limb muscle
involvement. Sensory and autonomic nervous systems
may also be involved. Early involvement of the diaphragm
and predominance of distal muscle weakness clearly
distinguishes SMARD1 from Type 1 SMA. Essentially, in
SMA1, symptoms manifest in reverse order. Infants with
SMA1 will become floppy due to weakness of the proximal
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