Help for Austin JAK lil man

Thank you all for viewing our page. I would like to tell you a little about our son Austin JAK and our family. Our names are Todd and Deanna Cavanaugh and We are a blended family. We each have four children 2 boys and 2 girls each. And we wanted one of our own to share the love we share. And this is where Austin JAK comes in.
Austin is a sweet lil man. He was born November 25, 2014. He was 35 weeks. He weighed 4lbs9oz at birth. He was perfect. Filled with so much love in that little body. 2 days after he was born, it was discovered that he has a clef palate. He saw the specialists for that. He came home and he enjoys being with his family. At 2 months he had surgery for double inguinal hernia. Slowly he gained weight, we noticed he was not able to sit up nor hold his head. We brought it to the attn of our pediatrician and she wanted us to go for genetic testing for Austin. During this time we started physical therapy for his low tone.
On August 25,2015 we went for genetic testing. When we were there we were told that our insurance would not cover the blood work and it would be our responsibility. Although we do not have the money $2200 to cover we still needed to know why was wrong with Austin. So we had to get it done. The geneticist said that she would have the results in a week. And we figured she knew something was wrong cause it could take months for results to come back. We got the call on Friday to go to CHOP for results.

Monday September 2nd,2015 will be a day that changed our life forever. Results confirmed the geneticists thoughts, Austin JAK has a rare syndrome. It is called Emanuel syndrome.
www.emanuelsyndrome.org
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.
Other features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features, and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits or sinuses). About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood. 70% of children with Emanuel Syndrome lern to walk. Most by the age of 7. With lots of support and therapy. Those that do will require support to remain stable. 80%will never talk but with the technology we have these days it will make it easier. I mean really kids would rather txt anyway!
We knew he was special but 1:1000000?
He was admitted to CHOP for further testing. We are still with him and we will not let him go thru this alone.
There will be a lot of expenses that our hard work in our careers won't cover and lots that insurance won't cover completely. And there is our family expenses. We are scared for him and our family. This is all ne
w to us and I don't think it has really set in what our life will be like
He has a long journey a head of him and Deanna and I will not allow any one to tell us "he can't", "he won't" or "he isn't"
I am not quite sure what we are looking for in help. It isn't like me to ask. This isn't for our financial gain, but to help with our family's Day to day needs and for the things that Au
stin JAK will need. 
Again, Thank you for reading about our special lil man and anything will help even if it's just your words of support.
Thank you from the Cavanaugh family

www.emanuelsyndrome.org