Finally have an answer, don't know how to feel about it.

My wife and I just received a diagnosis for our youngest daughter. She was born 11 years ago with multiple developmental delays. The doctors had never been able to determine why, so we have lived with a big question for a long time. We had another test done back in July and recvd results a week ago.

Sat down with geneticist today to find out that she has Pitts Hopkins Syndrome. It is a relatively new diagnosed syndrome that has been discovered in children and young adults. Since it is so new there are no in depth studies as to what the future holds. A part of me is glad we have an answer but another part of me is saddened that we know now that since it is a mutation of a gene there is no cure.

I always held out hope that through therapy and hard work that maybe we would see some improvement as she gets older but this is not to be. While her quality life is good and she is happy and enjoys school and her family, she will never be a " typical kid".

Going to take a break for a bit to clear my head and work on the next step for my daughter and the family.

Thoughts and prayers with your little girl, you and your family Brass...My wife works with Special Needs Kids for our school district and things we take for granted can be a real challenge at times.

My son went under the knife at one day old. it was scariest time of my life but it was over in a month (a never before seen maelrotation lots of questions and reviews lots and lots of follow up). the scar across his stomach is forever.
As a father I feel your frustration but never forget the many blessing you have now.
no matter what you are still the best father that girl could ever ask for.
prayers and best wishes

I just want to say, Keep Faith In God, and believe in him, when a adult is sick its not as bad, but when a child that has not a good start is sad, and I beleive in God Name that things will get better for You and Your Family and espeically Your Daughter.

Hugs Man...

In the scheme of things the illness of your child makes my issues very small indeed. I have had a very full and great life. I have done most every thing I ever wanted to do and seen most every thing I ever wanted to see.

My sincere wish, hope and, prayer is that you and your child may, at very least, do the same.

mcw

Thank you one and all for the thoughts and prayers. While one door closed others are opening for her. Now that she has a diagnosis there are therapies that are recommended for kids with this syndrome. Water therapy, music therapy and therapy involving horses. All three of these are things that have always made her laugh and smile.

Sorry for the delayed response, my wife and I have been busy researching and reading as much as we can about Pitt Hopkins Syndrome. We found a family support group and a forum that we joined for parents with children who have these types of rare afflictions.

Once again thank you all for the support, well wishes and prayers. I cant recall ever being so proud of being a part of something as i am of being a member here.