anaxarete

7/23

ugh, shouldnt have written this mass e-mail in the first place
some of you may already know but for those who dont
on tuesday jet's genetic test came back. she tested positive for spinal muscle atrophy
from www.fsma.org (fyi this is something that can be screened for, but isnt routinely)
Type I Acute (Severe)
Type I SMA is also called Werdnig-Hoffmann Disease. The diagnosis of children with this type is usually made before 6 months of age and in the majority of cases before 3 months, there may be lack of fetal movement in the final months of pregnancy.

Usually a child with Type I, (Werdnig-Hoffmann) is never able to lift his/her head or accomplish normal physical milestones. Swallowing and feeding may be difficult and the child may show some difficulties with their own secretions. There is a general weakness in the intercostals and accessory respiratory muscles (the muscles situated between the ribs). The chest may appear concave (sunken in) due to the diaphragmatic (tummy) breathing.

In the acute type of this disease the bulbar muscles are often affected, and this may make feeding and swallowing extremely difficult. Breathing is often labored due to reduced strength of the chest muscles, and most breathing can be seen in the abdominal areas, with the chest appearing sunken in.

Because of increasing overall weakness or repeated respiratory infections, the prognosis is poor. Death in the majority of children with Type I S.M.A. usually occurs by 2 years of age

needless to say this is really bad news. probably what happened on friday was a result of this disease. we think she's in pretty bad shape but we're hoping to be able to bring her back home for a little while - not sure how realistic this is. also not sure what else to say. it sucks. thanks for all your prayers and thoughts, we all need them