We are Julie & Paul. Our son Robert was born on April 10th, 2000. He was full term (1 day before due date). He weighed 5 lbs. 2 oz. and was 17 and 3/4 inches. He was quiet at birth and didn't cry. He just made short high sounds. He was a doll baby.
After Easter that year, he began to develop eczema on his face and body. He also had the typical cradle cap condition. Pretty much all was fine for the first 9 months of his life. He didn't grow much though, and didn't attempt to crawl or walk.
At 9 months of age, he got sick for the first time. He had bronchilitis. In 2 weeks he developed diarrhea. Then had another bout with bronchilitis. (each lasting 10-14 days). His doctor treated him for these as he would any other child and assured us it was normal for infants to get sick quite often during the first two years of life.
June of 2001. Robert is 14 months old. He had a bad cold and couldn't get over it. His doctor ordered a chest x-ray and saw pneumonia in his left lung. We had him admitted to the hospital where he stayed for 1 week. Although he was being treated for the pneumonia; the hospital staff wondered why a 14 month old baby only weighed 14 lbs. Just about every test was given to him, including a salt-chloride test for cystic fibrosis. Luckily he passed all tests with flying colors! A blood sample was taken from his as the genetics doctor had suspected Prader-Willi syndrome and a failure to thrive.
July 3, 2001. I received the phone call from the genetics doctor. He told me he had 49XXXXY. He also explained the possible symptoms to me. Although now I understand that not all the symptoms appear in each case; during that phone call I literally saw Robert's whole life flash before my eyes. I cried for hours before my wife found out. (as she was still sleeping that morning when the call came.) To this day, we sometimes find it difficult to deal with this situation.
Well, since then he has had a couple mild cases of pneumonia which did not require hospitalization. Although he attends speech, physical and occupational therapy, he still is not crawling, walking or speaking. He is still not even able to get to a sitting position from lying down. He does, however, scoot all over the place! He has a wonderful sense of humor. His communication skills are just single note sounds and pointing at things he wants. Occasionally, he'll make multiple sounds in a row while using his voice. It almost sounds as if he's about to say an actual word. We count with him and he loves it. He'll count along going, "Uh, oooowah, oowah, oooowah..." when we count: "one-two-three..."
UpdateRobert is almost 5 years old. He is attending an MRDD school in our area. He is receiving extensive OT/PT & Speech-Language therapy. He still is not speaking, but does make many new sounds. He mostly has been making the "M" sound! He is learing to to use single-word sign language. He uses a walker and braces to help him learn to stand and walk. He still is just as happy as he always was. And we're proud to say that he is now a big brother! Robert has taken to him well and often will try to hold his hands.
Story Submitted by: cep1022@aol.com
