Story about Succinic semialdehyde dehydrogenase deficiency .

Bart, the first 37 years


He was born a healthy newborn with a 9/10 Apgar and a healthy appetite until he was four months old when he became very weak and eventually lost most of his muscle tone. He was described as a piece of cooked spaghetti with a face. But, weak as he was, he continued to play and responded to the presence of his parents and sister. His local physician shared a story about a baby she'd once cared for who was in a state similar to my son's and when the grandmother took the baby to her farm for a couple of days to give the exhausted parents a rest. The grandmother gave the baby goat milk from her goat and turned his condiiton around. On the way home from the office visit, I passed a health food store, and thought, "why not?". Since my breast milk dried up because my son was too weak to suck, we'd tried every formula on the market, every type of nipple on the market and nothing had worked. His doctor called every night about 11pm or so to see what his intake had been and we were pleased when it got to 24 oz (he was now 8 months old!), but the day we tried the goat milk he took 54 oz and the next day 56 oz.  He's now 37 years old and raw goat milk is the staple of his diet. We know he has to avoid Lysine and Trytophan, both of which are in goat milk, but we don't let him have other foods that contain those which mean his diet is very, very limiting. It was difficult in the beginning, but now we're all used to it and it's fine. 

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