My daught. just turned a year old, she is a pure joy. However, she is a big mystery to me and her father, as well as to all of doctors. I knew somthing was wrong immediatly after she was born. I was assured she was fine. She was extremly quiet and laid back. Didn't make a sound after she was born, a happy baby. When we brought her home from the hosp I noticed that she had no stepping reflex, she couldn't bare any weight on her legs. She was diagnosed with Benign congenital hypotonia around 3 m. She has microcephaly. (16 is her head circ. right now and shes a year old, 29 inches long, and 18 lbs 9 oz), dev delay (performes on a 4-5 month level), upper GI problems, hx of resp. issues, has a lot of mucus build up has a very hard time manageing and coughing up (coughing fits in which she turns blue before she's finally able to cough phlegm up - these fits are usually very violent. She cannot hold a bottle, sit up, crawl, walk. She was able to roll both ways around 10 m., once u get her verticle there is just nothing there. She sees a ped. Neuro., GI specialist, ped pulmon., PT, OT, ST and will be having a PEG placed soon. She has had many tests - Gen. workup just recently came back normal. Cpk tests were 370 and I was informed that it was a little high but still normal, her cystic fibrosis test was normal, mri and eeg normal. An endoscopic proc. performed after she spit up blood found the beginnings of an ulceration in her stomach. Biopsies of stomach and esophagus were normal. She was put on carofate and prevacid but was hospitalized again when she couldn't keep her meds down and her condition got worse. They inserted a NG tube. I think she should have a muscle biopsy but the drs havent pushed for it.She has been fitted with AFOs, a stander and a bath seat. Her reflexes are good. She had rsv at 1 m in which she was hosp for 3 days, and the flu at 6 m. with hosp. as well. Thank u so very much for ur time.
We recommend that your daughter meet with a medical geneticist for evaluation. A medical (clinical) geneticist is a doctor who specializes in genetic disorders. A medical geneticist will perform a physical exam as well as review all your daughter's test results, your pregnancy history and the family history.
A clinical geneticist looks for signs and symptoms that may be caused by an underlying genetic syndrome. You can find a medical geneticist in your area at the American College of Medical Genetics website.
Copyright 1994-2018MedHelp.All rights reserved. MedHelp is a division of Vitals Consumer Services, LLC.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. MedHelp is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.