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Around 1 ½ months of age, I felt Luke wasn’t bonding with me. He wouldn’t focus at me when I would talk to him or give him a bottle. I thought to myself that maybe the doctor got the due date wrong and he was delivered a few weeks earlier than planned and he is just delayed and everything will be alright in a few weeks. Those weeks went by and no change. At 2 months of age Luke didn’t smile or coo like other babies and had slight strabismus in his left eye. Luke’s Pediatrician said that she would like to do some further testing on Luke since he didn’t show typical signs of a 2 month old. Two things right away that the Pediatrician saw were that his head circumference was at 1% and he would not follow the light of a pen. Chromosome blookwork came back and showed that Luke had 49xxxxy. Our Pediatrician said in the office that he would be “severely mentally retarded”. She had never seen this diagnosis and from her research, there were only 150 cases reported in the WORLD! Well, since that time, I am SO HAPPY to report that our Pediatrician has back off on those words…she said Luke will write his own book on this rare genetic disorder. Luke IS making fantastic progress each day. After Luke’s diagnosis, we saw several specialists (Cardiologist, Geneticists, and an Ophthalmologist). We also started early intervention through the State of Illinois. Luke is 8 months old right now and smiles and focuses better. He sees five therapists each week. Luke has low tone in his trunk area and physical and occupational therapy is working well. Luke can’t roll or sit yet. He is just starting to grasp on to toys. Luke is a very calm baby, he hardly cries and quietly groans when he has a wet diaper or calls for attention. I believe speech therapy will be needed for him when he is older since vocally he struggles. Luke’s head circumference was at 0% at his 6 month visit. We are now going to have Luke evaluated by a neurologist. Most recently Luke has signs of reflux, we are going to see a GI doctor to get this confirmed. What I have found with this 49ers journey so far is that Luke will make progress, but just at his own pace. Each day Luke is improving and making strides…we are so amazed by each milestone. I know there will be struggles but my advice to other parents who follow me with a recent diagnosis…never give up hope and your child will be more than you ever imagined…don’t dwell on the diagnosis. Talk to other parents with children that have 49ers for support and guidance. Don’t assume the worst when doctors diagnose your child with 49xxxxy. If you are a new parent reading this posting, please email me. I would be happy to talk to you as others have been so kind to me. Talking to others going through this has helped me the most to help my son….and most importantly of all…don’t give up on HOPE!
Regards, Jenny
Update 4/7/08
Our main issues in the near term are that he doesn’t walk yet and he has trouble eating solid foods. Luke’s gets around by “scooting” from one place to another. He scoots using his arms and bottom to scoot across the floor. We have tried using a Stander and AFOs to assist with standing and walking. It is a slow process and hope he is able to get around like other children his age. Luke sees a Physical Therapist each week to help in this area. Eating has been challenging. Recently Luke had surgery to untie his tongue (he was what they call “tongue-tied”). Luke is still on bottles and puree foods. He doesn’t know what to do with textures foods in his mouth and has oral motor/sensory issues. We are working with a Speech Therapist to try to introduce textured foods. Most recently Luke had an allergy to Peanut butter. Now we have to make sure he isn’t exposed to peanut butter at home or at daycare. Last year Luke completed three rounds of testosterone therapy in which we saw great results. I would highly recommend testosterone therapy for boys with 49ers prior to 3 years of age to mimic the testosterone surge what they lost at birth due to the extra X chromosomes. Luke continues to see four therapists each week to help him. He goes to daycare 3 times during the week which I believe is most helpful to him to be social with other children his own age. I have updated a picture of Luke (at 2 years old) with his sister. Luke is our special little guy and we are so blessed he is in our life. If you are a new parent reading this posting, I would love to hear from you and support you anyway I can.
Story Submitted by: jhansen325@yahoo.com |
Our
son Luke was born in February of 2006 via a scheduled c-section. He
weighed in at 6 lbs 6 oz and 21 inches long. He had a slight ear
abnormality but passed his hearing test at the hospital. He was
smaller in weight than our first child but was cute as a button and
there were no foreseen health problems. Luke didn’t take to nursing
so we bottle fed him. Also we noticed right away that he didn’t cry
much and was a pretty laid back baby much to our surprise.
Luke
is 2 years old now and is doing great. He is such a loving,
wonderful, funny, insightful happy boy. Cognitive wise, Luke is a
smart little guy. He responds to questions that we ask him in his
own way. He says words to us but doesn’t put a lot of words
together yet. He imitates his sister all the time. Speech will be
an issue we will have to deal with for a long time. But for now,
this area is not our main concern. He communicates his feelings to
us and vise versa.