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.  

Jumping for Joy

What a wonderful Christmas present!  A gift I'd wanted for so long and I wasn't sure would come.  Noah jumped with both feet off the ground.  A real jump.  It came unexpectedly wrapped in a little boy and tied with a smile.  What a happy, happy day.  Merry Christmas!

Embarking on Autism

I've been told that some of my son's behaviors correspond with autism.  Because of this I asked many doctors if he should be evaluated.  The answer was always "No, your son does NOT have autism."  They always noted that he was too social, loving, and easy going.  I was a little disappointed that they didn't want to evaluate him.  I thought that perhaps some of therapies or services available for autistic kids might be helpful for our son too.  However all of the doctors seemed to agree we did not have autism.

Here is a list of some of the characteristics that seemed to correlate with autism:

• Speech Delay
• Echolalia (He likes to quote movies and books.  He often repeats the script of whatever TV show he watched that day)
• Social Problems (He tries to hug everyone and has a hard time with conversations)
• He Self Stimulates (Usually By Humming)
• Dosent always make eye contact while talking
• Has a hard time following directions ( Doesn't seem to understand when I point to something more then an arms length away)

Eventually I stopped asking about autism.  Just when I'd put it out of my mind his doctors started to suggest having him evaluated.  Our new geneticist told us that many kids with PTEN mutations also have autism.  Since deletions are so rare there is not enough information to rule out a strong correlation with deletions as well.  I was shocked, nervous, and excited.  He recommended taking Noah to facility called "Children With Special Healthcare Needs" for an evaluation.  I had to wait over two months to get an appointment.

I had been told that the evaluation would include examining how our son plays with toys.  I told Noah we were going to go play toys with some nice doctors.  When we got to our appointment they pulled us into a doctors office with no toys.  Noah started to protest.  He wanted to go back to the waiting room where there were lots of toys.  The doctor started asking me about Noah's PTEN deletion and I started to explain his condition.  Noah was very irritated and started whining and pulling on my arm.  He was expecting toys.  Then just as quickly as so many others had diagnosed him autism free, he was diagnosed. Autism/PDD.

This was the full extent of the evaluation:

Doctor: "Hi Noah"
Noah: "Hi"
Doctor: "Do you go to school"
Noah: "Yeeesss"
Doctor: "What do you learn at school"
Noah: "Opposites.... Mom I want to go play outside"
Doctor: "You want to go outside and play with your Aunt?"
Noah "Yes!"
Doctor:  "Okay go outside and play"
Noah:  "OKAY" (Happily marches out of the room)

Diagnosis = Autism PPD

I'm not sure how to feel about this not so thorough evaluation.  I hate to diagnose my son with something he does not have.  On the other hand if there is some type of autism treatment that would help.... that's great!

I asked the doctor what to do next.  He said that this was not something you go get treatment for, its just something you work on in your daily life.  He suggested:

•  Work on his conversation skills,
•  practice eye contact, 
• practice socializing, 
• give him plenty of opportunities to socialize
• coach him on what to say.  
• Inform the school of this diagnosis so they can include social aspects in his next IEP.

Minus the IEP recommendation we were working on these skills already.  The doctor did give me some tips to make the work less frustrating.  He explained that when I ask Noah to tell his Dad who we saw at the grocery while I was expecting him to say "Grandma and Grandpa" Noah would be thinking of all the people at the grocery store.  He might sit silently thinking about the lady with the broken shopping cart, the teenager with purple hair, the daddy holding a small baby, the man with a foreign accent, etc.  With all this information he would be too overwhelmed to tell his dad anything.  He suggested that I tell Noah exactly what to say.  This will help him learn to filter the information for himself.

Despite the lack of information offered by the doctor I do believe there are treatments for autism.  I've heard of things like ABA and Son-Rise Methods.  I don't know what they are, but I know there is something out there.

Once again I feel disappointed in the medical industry.  It seems that once again I am embarking on a unguided expedition.  They give you a diagnosis, and no instructions on how to proceed.  It will interesting to figure out where this will take us.  I hope it turns out to be more then just a label to stick on an IEP.

Happy Holidays

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Milestones

I wish I had recorded the milestones.  I did not.  As a parent of a child with delays I grew tired of the competition of whose child was doing what first.  I do not believe that milestones coordinate with a persons success, intelligence, or happiness.  Also I am really tired of people apologizing to me for my sons delays.  Raising a child with delays is not a lesser experience, just a different one.  He did everything in his own time.

I am posting this approximate timeline in hopes that it might be a resource for other families who have a young children diagnosed with PTEN deletions.    

Teeth -
Our son got his first tooth at 3 months.  By the time he was a year old he had all of his baby teeth.  At the age of 4 he is now getting his 6 year old molars.

Sitting-
I can't remember I think around 7 months.

Crawling -
He never crawled.  Instead he scooted around in the sitting position until he learned to walk.

Walking -
Started walking around 18 months.

Talking-
We thought he started at 7 months.  For a week he said Dada, but then he went quiet.  He didn't really talk much after that until a few months after his 2nd Birthday.  I'm not sure if this is PTEN related or because of his multiple ear infections.
_____

At the age of 4 he is still not able to run or jump.  He can walk very fast.  He also struggles with fine and gross motor skills.  Feeding himself and dressing himself is still very difficult, but he is always progressing.  All he wants is to play with the other kids.  He longs to ride his bike and run and jump like the other children.  It amazes me that he can face this kind of disappointment daily and stay so positive.  He has an amazing self confidence that tells him anything is possible.  He believes in himself and never gives up.  I am so proud of him.

Our Story

Our first son was born in June of 2007.  During my pregnancy I gained a LOT of weight.  Towards the end of the pregnancy the baby moved less and less.  Finally upon my request they induced labor.  As we waited the monitors showed that our baby was under stress and the doctor told me that an emergency c-section would have to be preformed.  As Noah came into this world the doctor exclaimed "That is a REALLY BIG head" followed by "And a BIG body to match."  This was my first introduction to our little giant.

Noah was 11 pound 1 ounce and 23 inches long.  He was so large the nurses had to go to the pediatric floor to find clothes that would fit this new baby.  He was not like other babies.  He cried so loud that he woke the other babies in the nursery.  I tried to comfort him but he cried and cried.  Finally I unbundled him and placed him on the bed next to me.  He stretched out with his arms above his head and went to sleep.  Though I tried to nurse him he had a difficult time latching and I was forced to give him supplements. 

I felt like he was a difficult child.  He had lots of tummy aches, ear infections, and sleep issues.  When he started to miss the milestones I assumed it was because of his size (delaying crawling, standing, walking) and/or the repeated ear infections (delaying speech and communication).  At first his pediatrician didn't seem concerned.

By six months of age the pediatrician started to express concerns about Noah's head size.  He wanted to test him for hydrocephalus, a condition in which excess fluid collects in the brain.  Noah had his first CAT Scan on March 17, 2008.  They said the results were normal, but this didn't appease the pediatrician.  He requested more tests.  Noah would have to go through another CAT Scan, an MRI, and a visit to a neurologist before his pediatrician was satisfied.  All tests showed that everything was fine.  At this point his pediatrician told me that Noah's developmental delays might have no medical explanation.

None of the various specialists gave us any of advice on what to do about his delays.   Luckily the audiologist who conducted Noah's hearing test told me about the Early Intervention Program.  We enrolled in the program and it was a great experience.  He really enjoyed the playgroups and the one on one attention he received from his therapists/workers.  I think one of the most helpful parts of the Early Intervention is meeting other people who are dealing with similar challenges and learning about their experiences.  From these parents I learned about more services available.

At this point I was still far away from a diagnosis.  Even a Developmental Pediatrician couldn't give us any ideas.  It didn't occur to me that his large body and head were a symptoms.  I thought they were simply cosmetic... and it seemed the various specialists agreed.  It wasn't until my brother told me about a condition called Sotos Syndrome that I started to research genetic testing.

As Noah approached his 3rd birthday I was able to schedule an appointment with a geneticist who tested him for Sotos, PTEN and Fragile X.  When the results came back we were told that Noah was a very special case.  Though many PTEN mutations have been diagnosed only a handful of PTEN Deletions have ever been diagnosed.  They told us that there was no information available, and no way of knowing what kind of life he would have.

I really wished that someone, somewhere could give me some information on how PTEN Deletion affected their lives.  I wasn't able to find anyone with this specific diagnosis.  Hopefully, this blog will reach the next family to face this rare diagnosis.  I hope our sons stories comfort some of your fears and uncertainties.

Noah is an exceptional child.  He has a spectacular memory, and often recites books and movies from his memory.  He says things that he thinks are appropriate instead of what pops into his head.  He says things like "Oh Mommy, I'm so happy to see you."  He is kind, loving, and very brave.  He never cries for attention when gets hurt.  He is always quick to say "I'm okay" when he falls down.  When he gets sick he is so nice and always thanks his mom for taking care of him.  His smile lights up the room.  He is adored by adults because he makes them feel like they are his favorite person in the world.