Hi, my name is Mary, and my son, Alex, is 15 months old.  he was given a firm diagnosis of Weaver syndrome a couple of months ago.  He was born in respiratory distress and spent a couple weeks in the NICU.  He came home with a clean bill of health.  At about 6 months I noticed he wasn't meeting some of his milestones.  I took him to the pediatrician and he said to give it some time.  he is a big boy, so the dr. contributed it to that.  I did not care for that answer at all, so I asked for a referral to a developmental pediatrician.  She ordered blood tests and chromosome tests, and the blood test came back with abnormal organic acids, so she referred us to a geneticist.  The geneticist was not at all worried about his blood test.  He thought from the very beginning that there was something genetic going on.  He ordered a bone age x-ray and it came back at 18 months when my son was only 8 months at the time.  With that info, he gave a tentative diagnosis of Weaver syndrome.  There is no genetic test for Weaver syndrome, so he took a wait and see attitude.  At one year we re-did the bone age x-ray, and it came back at 36-42 months.  With Alex's facial characteristics, he felt comfortable giving him a firm diagnosis.  Alex is in physical therapy, speech therapy and early intervention through the schools.  He has made incredible progress.  The hypotonia makes everything harder for Alex to do, but we have always encouraged him to work hard.  His best naps come after a PT session because he works so hard, and it is good for him.  Those are the things that I can deal with.  I take him to all of his appointments and work with him religiously.  The mental part is harder.  You can't help but worry.  It will always be in your mind.  There is intense sadness, grief, guilt.  some days are better than others.  Try not to fool yourself that you are ok and can handle it and only look on the positive side.  If you don't grieve for the baby you thought you were going to have, it will come to you much harder later on.  It doesn't mean you love her any less.  she will actually teach you so many things and that is why she was put on this earth.  She will make you stronger.  You will look at other kids with disabilities and see a new appreciation for them.  It is a hard battle sometimes, but I wouldn't change my life for anything in the world.  I hope I don't sound too preachy.  I just remember when my son was diagnosed and I got the call and my husband was at work and I was completely alone and scared and I could only think of the worst.  But it does get better.  You get into a routine.  Find the right service providers for your little girl.  That is so crucial to get it started as early as possible.  It really does make a difference.  let me know if you have any questions or just need to talk.  My email is sammarysara@... I would love to talk more with you.

 

Good luck,

Mary

ralph_pot <ralph_pot@...> wrote: