Autism Awareness

My son is 4 years old.  He has a PTEN Deletion and has been diagnosed with Autism PDD.  I worry about him starting kindergarten next year.  There are many parts of his disability that pull at my heart strings.  It was difficult to hear a doctor express concerns over his intellectual abilities, and physical abilities.  It even more difficult to hear that he was at high risk of cancer, and also very hard to accept the diagnosis of Autism.  Even with all of these trials the one thing that cuts the deepest is chance that these differences might isolate him and prevent him from finding friendship.  He is the sweetest child, and longs so much for a good friend.

I recently read a blog by a mother whose child faced cerebral palsy.  She lamented that the greatest trial her son faced was that of isolation.  It frightened me, and I began to search the web.  Many parents suggest that the best tool is to come to the school and educate your child's peers about their condition.  It seems difficult task to try to make children understand something that adults struggle to understand.

However in my search I found a blog where one mom shares her lesson plan on how to educate her sons class on Autism.  Her explanation was so clear and logical, I feel like everyone who knows a child diagnosed with Autism should read this post.  It was called "A hair-dryer kid in a toaster-brained world."  When you get to the bottom of her post click on the link "Question 2" and continue reading.  Its such a simple way to explain the world of a child with Autism.

Her experience really gives me hope.  It sounded like the kids were very receptive.  I pray we will find the same type of children in our neighborhood, and escape the trial of isolation that sadly many special needs children face daily.  

I was excited to see that Lady Gaga is starting a foundation called "Born This Way" to help promote awareness and acceptance for children with Rare Diseases.  I hope that it has an deep impact to improve the lives of special needs individuals. 

Cancer Risks

I think every parent realizes that their child will face a variety of problems, illnesses, and sorrow in their lifetime.   Even with that knowledge it's still hard to hear that your child will likely have to deal with cancer.  The good news is that the cancers shown to correlate with PTEN are curable if caught early.  Try to remember that information is power. 

I recently read an article entitled "Lifetime Cancer Risks in Individuals with Germline PTEN Mutations." This study followed all types of PTEN mutations including: insertions, deletions, indels, splice site mutations, and the category we fall under "large deletions".  The article was published by the American Association of Cancer Research, and most of it went over my head.  However I was able to glean a few details which I've compiled into this simple list.  The list includes the cancers associated with PTEN mutations/  the percent chance that someone with a PTEN will face this type cancer/ and the age to start screenings:

• Breast Cancer (Females with PTEN mutations 85.2%) - Cases start appearing at 30 years of age.
• Epithelial Thyroid (35.2%) Cases start appearing in infancy
• Endometrial (28.2%) Cases start appearing at 25 years of age.
• Colorectal (9%) Cases begin appearing around age 40
• Kidney (33.6%) Cases begin appearing around age 40
• Melanoma (6%)  Earliest case documented was age 3

Though these numbers are intimidating I'm so glad that the research is being done.  Its nice to have a resource available.  The research is moving forward, and the more information the better.