Shaun's Story: Shaun's background

On June 10th, our 4th child, 3rd boy, was born at Winchester Medical Center in Winchester, VA. He was 8 lbs 3 oz, just like his big brother Scottie, 20 3/4 inches long and wonderful. He had trouble with temperature regulation but that soon went away and we were happy mommy and baby. Peter and I took him home in a regular time frame, at 4 days old. The first couple months went normally until around 4 1/2 months he got sick with a bad cold. It took him a long time to get over it, but finally did and we didn't think much of it until later. He was progressing typically until this point.

At Christmas, Peter and I got together with my sister and I noticed Shaun was not progressing as fast as her daughter (who was born just a few weeks before Shaun) was. We then went to his well baby check up in January, voiced our concerns, and it was confirmed that his weight had dropped off too. Shaun also was riddled with infections and colds landing him with ear infections around once or twice a month. We got tubes in his ears which kept us from having to go in for ear infections in February. In March, our trips to UVA started. We saw a developmentalist who confirmed our suspicions that he was behind- at 9 months he had only progressed to a 3-5 month developmental level. Given our family history, the doctor set us up with genetics and sent us to get an MRI. The MRI showed that he had legions in his basil ganglia and cerebellum. They were not sure what this meant. Hoping for more clarity, he was set up to see ophthalmology, which didn't provide any diagnosis, but determined that Shaun also had bilateral lemellar cataracts which would require surgery.

Since then we have gone and seen multiple specialists, GI, neurology, genetics, feeding clinics, started occupational therapy and physical therapy in our home, and this is what they came up with:

Shaun is slowly progressing, has hypotonia (low tone), delayed gastric dumping, failure to thrive, developmental delay, cataracts corrected by surgery, g-tube feedings, and asthma. Shaun tires easily, gets sick a lot, has trouble swallowing, eats little by mouth (although loves his passie!), does not sit, crawl or talk yet, or does many other things that 15 month old children do. Shaun also has a gluten intolerance. Clinical picture presents as a mitochondrial disease, yet through all the tests, they cannot prove it. UVA genetics are sending us now to the Cleveland Clinic to see Dr. Parikh, one of the leading doctors in the mitochondrial field.

Shaun loves his family, is learning to speak a few sounds, enjoys playing with his brothers, talking on the phone and being the center of attention. He loves to be held, play with his therapists, going for walks, riding in the "burley" behind the bike and watching his brothers play at the park or anywhere outside. He is getting interested in books, pushing cars back and forth, playing with his brothers' guys, and watching his mommy in the kitchen. He loves his daddy putting him to bed, throwing him in the air, talking to him on the phone, and giving him cuddles throughout the day.

As we go through this journey, I will try to update on how he is, what is found for diagnosis or not found, ask for prayers, and give general updates. I hope this blog will inform you, encourage you, and maybe even help answer questions you may have. Please leave comments or questions and I will answer them as time allows!