i'm new here long
I have been lurking for quite some time now and decided to post. Our youngest son Owen is 11 months today. We finally have an appt. Monday with a neuromuscular specialist. Owen does not sit, stand or crawl. He just started rolling and can clap his hands. He can only hold his head up for limited amounts of time before getting too tired. He is only 15 pounds and hasn't gained much weight in the past three months. He has had four episodes of head twitching which we think are some sort of muscle spasms. He has PT once a week right now and may begin with two times a week in the near future. We have been testing since August and still have not found any answers. I am hoping the specialist will be able to finally help us understand what is wrong with our baby. Owen has totally normal comprehension and is age appropriate or better in every area except gross motor and eating. I guess I will be sticking around for a while and just wanted to introduce myself. Look forward to getting to know you all.
Re: i'm new here long
Hi and welcome.
Owen sounds a little like my DD, Marley. She is behind in her gross motor skills (as well as all other areas), is only 15lbs and 24 inches and has facial spasms. But she is also hearing impaired.
She has a very rare metabolic syndrome. It was diagnosed by her physical?characteristics?and increased levels of an organic acid in her urine. Her genetic tests were?essentially?normal. Fortunately she was diagnosed early (6 weeks old) but unfortunately there is no cure nor established treatment for her syndrome. So we are "winging it".
I hope you get a diagnosis soon. It is a major step in being able to help your DS.?