LUKE
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Soon after Luke was born the hospital pediatrician noticed he had a slight heart murmur, but told us that most baby’s are born with murmurs and they usually go away as soon after the baby is born. At 2 weeks after his circumcision healed our pediatrician noticed he had a problem called hypospadias, told us to see a urologist, she also noticed he still had his murmur, so she told us we also needed to see a cardiologist. At 1 month we saw the cardiologist and he found out that the murmur is caused by a VSD. At 2 months we saw the urologist and decided that Luke would need surgery to correct the hypospadias. At 6 month checkup I talked to the pediatrician about some concerns such as the fact Luke didn’t seem to be developing like my older two children, and didn’t seem to be growing as fast as they did. She agreed with me, and so an early intervention specialist to come evaluate him, and decided he needed to be put on a high calorie diet, she also mentioned seeing a geneticist to see if anything was related. The early intervention specialist noticed that Luke has areas of low muscle tone, and recommended physical therapy, she also noticed that Luke wasn’t babbling a lot so she also recommended a special instituter to come work with him. At Luke’s 9 month check-up his blood test came back showing that he was anemic. About that time we went to see the geneticist, who agreed that all Luke’s problem are pretty normal, but it wasn’t normal to have everything together, so we did a chromosomal test. After 2 weeks at 9 1/2 month I get the phone call back from them and they told me Luke had 22q11. Most recently after 2 UTI’s the urologist recommended getting ultrasounds of Luke’s kidneys and bladder, were they discovered he has a bladder diverticulation. We meet back with the geneticist soon to go over what is next, and what 22q11 means to us, and our family.