Here is a letter I wrote on behalf of Austin for a high school senior here in Arizona by the name of Emily who wants to do something good for someone. She has offered her time to raise awarness and help our family. I know most of you know Austin's story, but for those of you who may not here it goes.

Austin was born on October 22, 2004 at 38 weeks gestation via c-section. Everything seemed okay with the exception of an absent/poor sucking reflex. As time went on about 6 months of age, Austin seemed to have very low tone called hypotonia; the best description of Austin was “a wet noodle.” After mentioning to his pediatrician we started Physical Therapy in hopes that he just was a little behind in movement and that after a couple of months of physical therapy things would be okay. Things weren’t, so with the help of the physical therapist we went to see a neurologist at Phoenix Children’s Hospital. After scans and many tests there was no answer to why at 9/10 months of age Austin had such low tone, failure to thrive (wasn’t gaining enough weight), wasn’t sitting up on his own, and had poor head control. At this point we followed up with the neurologist as ordered and his hopes were Austin would out grow it, and he could see him walking by two years of age. We continued physical therapy, added on occupational therapy and started speech therapy. He also was eligible for early intervention through the State of Arizona.
At one year old (15 months) Austin received a nasogastric tube for feeding through his nose into his stomach since he wasn’t getting enough calories by mouth. He was tube fed four times daily and through the night. He continued with therapies but very slow progress was being obtained. At this time Austin’s head control was much better and he was able to sit up on his own for short periods of time, but if he fell over he would sit up using abdominal muscles only, did not like to roll or be on his stomach. With frustration we asked the neurologist what else we could be doing to help Austin and figure out his condition. With his help we began seeing a geneticist. She ran another round of multiple tests on Austin, again all results turned out to be normal and/or negative.
By age two we decided as parents we needed to seek all answers possible, we made the hard decision to switch neurologists and started seeing Dr. Narayanan at St. Joseph’s Hospital/Barrow Neurological Institute. Dr. Narayanan is also a scientist and geneticist. He to was baffled by Austin’s condition and ordered more testing, and went over previous scans. Again normal results and no answers. After talking with the genetics department in a neurogenetic clinic the decision was made that we were going to do a muscle biopsy on Austin and change his NG tube from his nose to a more semi-permanent gastrostomy tube placed in his stomach. The gastrostomy tube we kept putting off thinking the whole feeding thing was just temporary. The muscle biopsy was done to rule out a mitochondrial disorder, which presents many different ways, but usually attacks one set of muscles/muscle. The biopsy came back inconclusive neither negative nor positive. What are the odds?????? Although Dr. Narayanan is a wonderful doctor and very dedicated in finding out Austin, we were honest…where do we go from here? He understood and also had frustration, but no giving up, thought it to be a good idea to have more people looking into Austin’s condition.
We went to the Cleveland Clinic Foundation in Cleveland, Ohio and saw a neurologist/geneticist there in June 2007. More genetic testing was done and more history was given. I never thought I would learn so much about my family and my in laws. No conclusions. Between all doctors at this point we have ruled out Angel Man’s syndrome, Prater Willy Syndrome, Rhett’s syndrome (which is normally present in girls, but they are finding boys carry the gene now, and many others. To date Austin’s only diagnoses are severe global delays (because it is difficult to test him, at this point they say he is anywhere from a 5 month level to 18 month level on things, and he is four years old), hypotonia (which is the fancy word for low tone) and he is on the Autistic Spectrum. Very generic terms for a child who is four and can only pull to stand, take steps (about 2-5_with two hand hold), doesn’t talk (will shout and make loud sounds, but no words), and doesn’t really like food, but can eat things and drink out of a sippy cup if he desires (he likes to eat finger foods, and some things from a spoon, but can’t hold the spoon purposefully). Austin is supplemented four times daily through the Gtube in his stomach. Austin is in developmental preschool through the Peoria School System and goes to school four mornings a week. He continues to have center-based therapies which include physical therapy, occupational therapy, speech therapy (two times a week) and at home he receives music therapy.
Although Austin is making progress, it is a slow progress, we have found from networking with another family a different type of therapy called CME (Cuevas Medek Exercise) that was invented by Ramon Cuevas. It is a special type of therapy that triggers areas in the brain to initiate reflexes required for mobility. It has been used to help kids with movement disorders walk. The inventor lives in Chile, however we have found a physical therapist by the name of Simona DeMarchi who is the only other level four CME in the world, trained solely by Ramone. Simona is located in Toronto, Ontario. Of course, the one type of therapy that may work for Austin is thousands of miles away. We are in the process of planning our trip to Toronto. Austin’s intensive block of therapy is planned for March 23-April 17, 2009. He will attend two forty-five minute sessions a day five days a week. Austin and I will be leaving Dad and big brother Zach who is six years old at home in Arizona, since we will need to live out there for one month. Hopefully daddy will be able to come out the last week and stay with us, since this therapy will have to be carried over at home and therapies. It will all be video taped. When he graduates to the next level, it is hoped that we can go back and work with the therapist again and develop new exercise plan for Austin.
Recently my husband Bill gave a speech at Barrow’s Neurological Institute for genetics on behalf of our son Austin. We had a great response and questions from the people attending. Barrows is in the process of writing an article about Austin for the Neurological Institute Magazine. With no answers and slow progress it has been very difficult for all of us including our family. We will not give up and will continue to seek treatments and answers for our son.
It is our hope and expectations that every one will pass the word on about Austin and keep him in your thoughts and prayers. It is our hope that we get the word out about Austin to help find a diagnosis. The neurologist at this time with tests pending thinks that this may be the way Austin’s brain as developed and we may never have a cause or answer. He continues to seek answers, and is not giving up. As parents we want the answers and aren’t giving up. We hope to give Austin the best quality of life possible.

Sincerely,

The Benschneider Family
Bill, Erika, Zach and Austin