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.

A Genetic Disorder called PTEN Deletion

In 2009 my son was diagnosed with a rare genetic disorder called PTEN Deletion.  PTEN Deletion occurs when a person is missing a single copy of the PTEN gene.  When a child is conceived he inherits DNA from his mother and father so generally most people have two copies of each gene.  A person with a PTEN Deletion is missing a single copy of the PTEN gene located on the 10th chromosome.  This condition could be passed on from a parent with a PTEN Deletion or it could be a random mutation.

Some of characteristics of individuals with PTEN deletions include:  High Birth Weight and Size, Low Muscle Tone, Drooling, Macrocephaly (large head), and Developmental Delays.  Patients may have verying degrees of cognitive problems.  People with PTEN deletions possibly have an increased risk of developing polyps and cancer.

The PTEN gene creates a protein that regulates growth and aids in cognitive functioning.  Those missing a copy of the PTEN gene only create half of what is typically produced.  This is why those with PTEN Deletions are born very large.  The lack of this growth regulating protein makes the prospects of cancer and polyps very dangerous.  While the body naturally works to surpress these growths, those with deletions do not have enough protein and growths will spread rapidly.  It is not known if patients with PTEN Deletions will continue to grow or if the body will find ways to compensate for the missing protein.  It is also not known how or to what extent the deletion will impact cognitive functioning.

In 2009 a geneticist told us to ignore all of the information available on PTEN mutations.  She instructed us not to read any articles as it would only cause us to worry about problems our son would not face.  With these instructions we left the hospital with no community, support group, plan of action, or idea of what to expect.  We were given only a diagnosis.  Since then I've realized that there are similarities between deletions and mutations.  Also there is an active community of people with PTEN mutations online who can provide support and share experiences.  Our new geneticist feels there is not enough data to determine if PTEN deletions are at less risk the those with PTEN mutations.

Our new plan of action is to proceed as if our son had a mutation.  We will do blood tests once a year to check for internal bleeding and polyps.  Also he will be evaluated for ASD (Autistic Spectrum Disorder), which has a strong correlation with PTEN mutations.  Our son is very social and does not fit the classical discription of autism.   However, he does struggle with communication, and hums a lot which is a self stimmulating (stimming) behavior.      

When my son was diagnosed with PTEN Deletion we were informed that only 7 or 8 cases had ever been diagnosed.  Due to its rarity it is somewhat impossible to know the implications of a PTEN Deletion.

I have no medical expertise.  This information is simply what I've learned being a mother and talking to doctors.  It is possible I've misunderstood or misinterpreted some of the information.  If you have any corrections, or more information please let me know and I will update this blog.

At the recommendation a wonderful geneticist, Dr. John Carey, M.D., M.P.H. (Primary Childrens Hospital - Salt Lake City),  I've started this blog to share our experiences.  I hope that it might be helpful for others who find themselves with this rare diagnosis.  If you or your loved one has a PTEN Deletion I'd love to hear from you.  It would be wonderful to speak to others with this condition.