Bryan was born on October 25, 1999 after 24 hours of labor. My labor was slow to progress and he was born with the help of vacuum suction. He weighed 5 lbs/14 oz and was 19.5 in. long. He made a strange cooing sound that I thought was cute and looked a bit purplish so they gave him blow-by oxygen, but my husband and I had no clue anything was wrong. He was released with me three days later and sent home with a phototherapy light for his jaundice. He had a poor suck and tired easily and snored loudly while sleeping. The lactation consultant had suggested to use a bottle for supplementing so he could learn how to suck. After about 2 weeks of bottle/breastfeeding, we switched to exclusive breastfeeding for 9 mos.
Since my husband and I don't have any other children, we had no idea anything was wrong. Two weeks after he was born the ped. called me and said he had a chromosome abnormality (duplication of chromosome 10 q 26 ) but she didn't have any info. We were never referred to a geneticist and I searched for one in the area. When we finally found one, he didn't have any answers for us.
Bryan was hospitalized approx. 8 times the first year and half due to upper respiratory infections. We've learned he suffers from severe asthma, life-threatening food allergies, immunoglobulin g defienciency which he receives monthly IVIG (Intravenous immunoglobulin), fusion of c2-c3 vertebrae, vision impairments, dilation of the ventricles with no pressure and cerebral palsy-hypotonic. His asthma has improved greatly, but he still gets at least 3 treatments a day. He is on a very restricted diet due to his food allergies, but is right on target with weight.
Bryan doesn't walk or talk yet. However, he babbles a lot, uses about 5 signs, and will walk with his trunk supported. He sits for approx. 10 mins. by himself, yet lacks the protective reflex. He likes to throw himself backwards when he's upset and scoots around on his back and in circles. He eats by mouth anything that I give him.
He currently goes to special ed. at the school district 3x/week, and physical/occupational therapy 2x/week. He drinks out of a cup, straw, bottle and is learning how to spoon feed. He doesn't yet self-feed due to tactile defensiveness.
He has the best smile that melts peoples hearts. He's good natured, strong-willed and very motivated when shown a favorite toy or bottle. Even though he's been through a lot, he is a very mellow child and eager to please.
In June we found this site by word of mouth on CDO. I'm so glad to finally have found other families. We were told that there were no other cases that were similar. I would love to hear from other families.
|Birth Date||Oct 1999|
|Diagnosis||Duplication 10 q 26|
|Parents||Bridget and Ken Thurman|
|City||Redlands, CA, USA|
|thurmanbl[at]gmail.com (change [at] to "@")|
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