the brain damage is so significant that sometimes it s irreversible. and it is a degenerative condition. so literally weeks and months matter everything to us. so anything that gets delayed even by a week is life or death for her getting into this trial. not to mention other san felipo children. we know all the researchers and workers at the fda and nih want to get back to work. this is their life s mission. and it s now our mission to try to get these things moved forward in a timely manner so that we can save our daughter and the many other children out there like her. earlier this week house republicans passed a bill that would have funded the nih. it was blocked by democrats in the senate. what s your message to lawmakers as they continue the brinksmanship over funding the government? it seems surreal that a child s life could hinge with
to go. they stumble, fall, then they re in a wheelchair. reporter: many people might hear this information and become paralyzed. but you, you have hit the ground running. i had to. i had to. there really isn t any treatment for us. and just knowing that i have a chance i have this big of an opening to make it. you know? that jonah has a chance. so that s, that s what keeps me going. who is that? reporter: she is on a crusade working 24/7 to find a cure for her son before the disease renders him unable to move, communicate and breathe on his own. she started a nonprofit, jonah s just begun to raise awareness and fund research. impossible, she says, without the help of family and friends and working day and night to find other children with san felipo type c that will participate in the first study ever of the syndrome.
now, jonah is missing an enzyme necessary for survival. without it, material will build up in his brain. jonah will slowly die before he is 20. their airway closes up, they have a hard time swallowing and eating. eventually their muscles start to go. they stumble, fall, then they re in a wheelchair. reporter: many people might hear this information and become paralyzed. but you, you have hit the ground teallany t and just knowing that i have a chance i have this big of an opening to make it. you know? that jonah has a chance. so that s, that s what keeps me going. who is that? reporter: she is on a crusade working 24/7 to find a cure for her son before the disease renders him unable to move, communicate and breathe on his own. she started a nonprofit, jonah s just begun to raise awareness and fund research. impossible, she says, without the help of family and friends and working day and night to find other children with san felipo type c that will
corner of the medical community looking for help. here now is dr. richard besser. he laughs nonstop. he is a really happy kid. yes, you are, you are so strong! reporter: climbing with a single-minded determination, 2-year-old jonah reaches for the top of the jungle gym. his mother is facing an uphill battle. my husband and i take turns crying in the bathroom so jonah won t see us. reporter: a race against time to save jonah s life. it is a parent s worst nightmare. reporter: five months ago jonah was diagnosed with a jonah was diagnosed with a san felipo type c, a disease so rare the chance of having it is one in a million. while he looks perfectly healthy