Meet the Families of AS - Nathan's Story

Thank you for visiting my blog!  I have created this blog to share our story and the stories of many other families that have children with Angelman Syndrome.  I would like to create awareness of this neuro-genetic condition and provide support through our common experiences and the resources that are out there.  Angelman Syndrome is often misdiagnosed for Autism.  They are similar in so many ways.  Early into our journey some Doctors had suggested I have my son evaluated for Autism and that I prepare myself that Autism maybe the diagnosis.  Symptoms of AS are: Seizures, developmental delays, protruding tongue, movement/balance problems, minimum or no speech, frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with uplifted hand-flapping movements.


This blog is for families, by families.  I am not a medical personnel, nor do I claim to be.  This blog is beginning with my son Nathan, and his life with Angelman Syndrome.

It was 2008 and we were about to welcome into our lives our second son.  We knew he was going to be a big boy, his weight was expected to be over 9lbs, so I was schedule for a C-section.  My first son Braden was also a large baby at 9lbs 10oz.  The day arrives and everything seems to be going as planned.  Monitors hooked up, we're doing fine, having conversation as I was being opened, my husband by my side behind the blue curtain and not daring to peek over.  He's a cop and bloodshed in the street doesn't seem to bother him, but when it comes to those you love, I guess it's a different story... "Almost done" says the doc, then splash! "Good thing I have an extra pair of clothes and shoes". Doc says.  A tug and a pull and he's out!  I hear him cry, then stop!  I see the nurse run over and they race him to the table.  I can't see much, but I see his arm lay limp.  They suction and suction and seconds seems like hours, still no cry.  As I lay on the table and the doctors continue to close me up, I hold my breath and it feels like my heart stopped beating.  I yell to my husband "Henry!, What's going on?! He's focused on our baby and says "Come on my lil buddy".  Then finally a cry.  They wrap him up and bring him over to my husband and he brings him to me and lays him on me.  I sigh with relief and kiss him.  My "Mother Lion" instincts kick in and I notice he keeps smacking his lips and seems very  irritated, his cry was persistent and I knew something was not right.  His biliruben levels had escalated so quickly and was approaching dangerous levels. It was Jaundice.  We were transferred to a hospital downtown and he stayed for a few days.  Finally, we were headed home and  it seemed that everything was now behind us.  Into the sunset we went...

At our "Well Baby" visits, I started to express my concerns for Nathan.  He wasn't feeding well, I was breast feeding and he would detach and scream.  I thought it might be reflux, but the doctor did not agree and suggested we find a formula.  We went through all of the formulas and none of them worked, he reacted the same.  I also noticed he had a hard time learning to suck the bottle.  At one visit he even lost weight.  I still suggested it was reflux and it was dismissed and never even tested.  I was also concerned with his development, he was not meeting his mile markers.  He was not sitting up when recommended in my books. He didn't roll over when expected and the problems with the bottle persisted. I continued to breastfeeding for the next 18 months and his weight bounced back.  As time went on, I noticed he was not making much eye contact or many sounds.  He liked to look at us from the side and I just thought that was part of his cute personality.

Shortly after Nathan turned one, he was still not walking or talking and at the "Well Baby" visit, I again expressed my concerns.  My first son Braden started walking the day of his first birthday.  "All children will develop differently, so try not to compare." I was told by the doc. "Let's just wait and see", he says.

15 months, still no walking, no talking, no hand clapping, no pointing and the persistent ear infections began with the many medications.  We go to the doc's office again to see if the infection is still there, he shows Nathan the light from the scope that he is about to put in his ear, most kids by this age usually use their index finger to cover the light, but Nathan could not.  I had enough of being ignored! I said "Do you finally see what I am talking about, he cannot do alot

When we took Nathan for the developmental eval., I realized how many other things he should be doing and was not.  It was so hard not to take it personal.  I had to remind myself that this is not MY eval. as a mother.  I kept reassuring myself that nothing was seriously wrong, I just needed to know what to do and how to work with him and he would catch up.  Results were; he was definitely delayed, and did not pass his hearing test.  That must be it, I thought, he can't hear me...  With futher evals from the ENT, he was scheduled to get tubes put in his ears.  That's the answer, I thought... Once we get this done, he can answer me when I call, his balance will be restored and he can learn to talk. Yup... it all make sense!  Tubes in and 1 week later he stands up and pushes his push car across the room for the first time and my hubby catches it all on video!  Victory!

Now let the learning begin, he started physical therapy and speech therapy weekly.  Things were going good when all of a sudden more seizures!!  What?!  Why?! Back to the hospital, back to our Pediatrician, but this time a new Ped, someone who cared and would listen.  We were still waiting to see the Dev. Specialist, so our new Ped, referred us to a Geneticist. 

She examened Nathan and asked if we had ever heard of Angelman Syndrome and that she would be testing for it specifically.  It would take 30 days to get the results.  As soon as I got home I got online, as soon as I read the symptoms on wiki my heart sank and I started crying almost uncontrollably.  I went to my husband and as I read I saw tears coming down his face, he knew too.  With all of the talk of Autism, I always thought it was similar but never felt like the "answer" and now I knew why. This was the answer.  Nathan was 2yr 3 months old we received our results and it was positive.  Deleted chromosome 15.  She handed us an info packet from Angelman Syndrome Foundation and said "No know treatment, no know cure". 
With Nathan still having seizures every 3-4 weeks I started reading "Treating Epilepsy Naturally" by Patricia Murphy.  I took out the dairy, wheat/gluten from his diet, added gluten/sugar free multi vitamin and cod liver oil.  Nathan did not have a seizure for 5 months, then got Strep w/ fever.  Now he will only have a seizure from lack of sleep or when he is sick with fever.  We are working with a Nutritionist and Speech & Physical therapists and I will continue to make sure we provide the best quality of life for Nathan as possible. 
I want to raise awareness and participate in events that raise money to find a cure for Angelman Syndrome, I know it's close!  I love meeting other families.