My baby suffers from rare disorder
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Hi. I am a mom of 5 ranging from 6 months to 17 years old. My baby girl was born on March 28th, 2014. Other than stress and vomitting, the pregnancy and delivery was "normal." I felt something was ary and knew something was not right with her as she would "shake" constantly and at first, did not cry, at all. In fear of her having seizures, I got her to a Neurologist right away. On Thursday, November 13, 2014 she was diagnosed with an extremely rare, progressive, recessive genetic, autoimmune disease; Aicardi-Goutieres syndrome (AGS).
http://www.ncbi.nlm.nih.gov/books/NBK1475/
Since 1984, there has only been about 3-400 cases world wide. The strand mutation Cataleya has is even more rare. Her misense mutation lies in her RNASEH2A gene. Today, there is about 50 known cases of AGS in the world and there is NO treatment, NO cure. AGS disease mimics a congenital infection and attacks the brain. Some do not survive the first year, most don't make it past childhood; though, there has been 1 or 2 cases of later onset AGS patients that have survived into their 30's.
My Leya suffers from severe tremors, developmental delay, microcephaly, and cortical impairment (she is virtually blind). At 18 months old, Cataleya does not smile. She does not laugh or babble and she doesn't play with toys. A lot of babies die before they smile. I pray I get to see just one grin.
As a teacher, I have been unable to return to work. I am constantly back and forth between CHOP, Cooper, and DuPonte. I have exhausted all of my savings. Gas and parking back and forth between the hospitals is rediculous, not to mention certain drugs I didn't give Leya because the insurance wouldn't cover them.
I'd rather not uproot my family to move during this diffcult time, but my rent is high. Cataleya's illness has already taken so much from my other kids and I am trying to do my best by her. She can not even be left to "cry it out" as any amount stress can trigger her brain to die. Sort of like dust and allergies. . . I am asking for any amount of help. . . thank you.
http://www.ncbi.nlm.nih.gov/books/NBK1475/
Since 1984, there has only been about 3-400 cases world wide. The strand mutation Cataleya has is even more rare. Her misense mutation lies in her RNASEH2A gene. Today, there is about 50 known cases of AGS in the world and there is NO treatment, NO cure. AGS disease mimics a congenital infection and attacks the brain. Some do not survive the first year, most don't make it past childhood; though, there has been 1 or 2 cases of later onset AGS patients that have survived into their 30's.
My Leya suffers from severe tremors, developmental delay, microcephaly, and cortical impairment (she is virtually blind). At 18 months old, Cataleya does not smile. She does not laugh or babble and she doesn't play with toys. A lot of babies die before they smile. I pray I get to see just one grin.
As a teacher, I have been unable to return to work. I am constantly back and forth between CHOP, Cooper, and DuPonte. I have exhausted all of my savings. Gas and parking back and forth between the hospitals is rediculous, not to mention certain drugs I didn't give Leya because the insurance wouldn't cover them.
I'd rather not uproot my family to move during this diffcult time, but my rent is high. Cataleya's illness has already taken so much from my other kids and I am trying to do my best by her. She can not even be left to "cry it out" as any amount stress can trigger her brain to die. Sort of like dust and allergies. . . I am asking for any amount of help. . . thank you.
Organizer
Heidi Mathis
Organizer
Williamstown, NJ
