written on November 13th 2002, added to this Site November 16th 2002)
My name is Roxanne. My husband, Kirk, and I have two kids. Our son, Dan, is 6 years old and was diagnosed with SDS at age 2. We also have a daughter, Megan (14 months), who’s perfectly healthy.

Dan was born 4 weeks early and weighed 4 lbs., 4 oz. Thankfully, he was healthy and able to go home just 4 days later.
From the very beginning, Dan ate constantly -- every 2 hours around the clock. He also slept a lot, but he was our only child and we didn't know if this was unusual. He had many loose, poopy diapers every day and after he developed eczema. His ped. suspected food allergies so we switched formulas. We tried soy, alimentum, and finally Portagen (made up of medium chain fatty acids, so easier to utilize).
Dan's only hospitalization came at 7 months when he developed RSV (respiratory syncytial virus infection).
He lost 1.5 pounds and it took him 6 months to regain it -- this really got the attention of his ped.

She started seriously searching for a diagnosis. As she was condensing Dan's files to send us to a ped. GI in Madison, Shwachman's suddenly popped into her head. She said that she read about it once in med school and everything fit.
The GI didn't think it was the right diagnosis but suggested some tests to rule it out. When we did the 72 hour fecal fat collection (yuck!) it came up as a very high percentage of fat -- unfortunately I can't remember the number. But it confirmed things for our ped.

By now, Dan was 18 months old and had tested significantly delayed in all areas of his development, so we started therapy (Physical Therapy, Occupational Therapy, Speech and cognitive). Progress was slow, but steady.

Two days before his 2nd birthday we got the official diagnosis of SDS and started him on enzymes. Within 2 weeks he was pooping 2-3 times per day instead of 10-12 and his energy level skyrocketed. Within 6 months he was almost caught up with his peers developmentally and he shows no signs of slowing down.

Now, at age 6, Dan is a happy, very social little boy who loves to meet people, play music and put on shows. He's been very healthy, but we still watch him carefully. He attends public school full time as a first grader, and although he has some behavioral difficulties (don't know if they're related to SDS or not), he's doing well.
Dan appears to be one of the lucky ones, whose macro-?-s (I can't remember if it's macrophytes or macrocytes) take up the slack for the neutrophyls -- he's one of the healthiest kids in his class, even with an average ANC of 400. He has quarterly CBCs (Complete Blood Counts) and sees his ped. and hem. once a year currently.
We just took him to the GI for the first time, cause he's been complaining of burning in his tummy. So far, nightly doses of mylanta seem to be taking care of that, but the GI is monitoring it.

Roxanne
Mom to Dan, age 6 (SDS, developmental dyspraxia) and Megan, age 14 months