Misdiagnosis: An Angelman Syndrome Story

Our oldest son Owen entered the world at the end of May, 2006. He was a scrawny baby, but very happy. My husband and I enjoyed six blissful months before our concerns about his development came to a head.

Misdiagnosis An Angelman Syndrome Story - Living the Diagnosis

Owen spit up. A lot. Our whole house smelled like acid. His muscle tone was low, and he flopped like a rag doll. He wasn’t making gains like our oldest daughter had done.

At Owen’s six-month appointment, he weighed a measly ten pounds. He’d lost weight since his four-month checkup. He couldn’t sit up. He didn’t roll over. Our doctor thought everything could be related to his severe reflux, so she sent us to a GI specialist in the big city.

We waited anxiously for our appointment. This was our first experience with a waiting list for a specialist. Just before the appointment, we celebrated Owen’s first birthday. He had recently learned to sit up, and could roll over. At least most of the time.

Misdiagnosis: An Angelman Syndrome Story
Owen and I on his first birthday.

More Than Reflux

At the appointment, the specialist prescribed medication for Owen’s reflux. He also said he thought something other than reflux was the root of Owen’s problems. He referred us to a Developmental Pediatrician.

Thankfully the waiting list wasn’t as long, and we were able to schedule an appointment for July. The doctor ordered genetic testing. Owen gave up a lot of blood, and the waiting game began.

Those days were hard. On one hand, we desperately wanted to know what was wrong with our baby. On the other hand, we were terrified of receiving a diagnosis. It was definitely a time of much prayer.

When the doctor’s office called and wanted to schedule an appointment, our hearts were heavy. We knew they’d found something. We headed into that appointment, knowing our lives were about to change forever.

The First Diagnosis

Testing had revealed a deletion on the 15th chromosome. The developmental pediatrician diagnosed Owen with Prader-Willi Syndrome. I’d done some research on my own, and asked if it could be Angelman Syndrome – the sister syndrome. 

She also diagnosed Owen with Failure to Thrive, as his weight was continuing to decline. She ordered a swallow study.

Owen was aspirating liquids. A g-tube and a fundoplication were recommended. We put them on hold temporarily, until we could talk to the genetic specialist and learn more about Prader-Willi.

The Right Diagnosis

As yet another specialist examined Owen, she recommended further testing. Owen didn’t have the symptoms of Prader-Willi. But, he did have many symptoms of Angelman Syndrome. Her office drew more blood, and our waiting game began again.

The internet can be a terrible place. Our hopes for our son were dashed by every website about Angelman Syndrome we found. Through our research, we began to realize that Owen’s first diagnosis had been incorrect. We were certain he did not have Prader-Willi.

Since a very young age, Owen was fascinated with water. He had a beautiful smile and a very happy demeanor. Those are both characteristics of children with Angelman Syndrome. The geneticist confirmed it. Owen’s deletion was from the maternal 15th chromosome, not the paternal one. His diagnosis was changed to Angelman Syndrome.

It was at this appointment we learned that we didn’t have a high risk of having another baby with this condition. It was a random deletion, not the inherited variety of Angelman Syndrome. This was great news for us, as we’d always wanted a large family.

We left that appointment with mixed feelings. We were thankful to finally know, even if we didn’t like what we learned. It was a tough diagnosis to swallow, and the specialist didn’t give us much hope for the future. But, we knew that the Lord had given us Owen for a reason, and we used our faith to begin putting our devastation behind us and move forward.

Fast Forward to Today

Raising a child with Angelman Syndrome isn’t always easy. Owen’s had more surgeries than I care to count. He did have the g-tube placed, and still has it, though we thankfully don’t use it anymore.

His epilepsy is extremely difficult to control. We’ve trialed many drugs, and he’s had a VNS device installed. He’s still having seizures daily. The only reprise we’ve found have been dietary solutions. But, they lead to horrible side effects.

While on the Ketogenic diet for seizures, Owen developed Pica. He now eats everything he can fit in his mouth. We’ve had to strip his bedroom of almost everything so he doesn’t choke at night. He still manages to find things to eat – tearing apart pillows, taking tags off clothing – he always seems to stay one step ahead of us.

Developmental Milestones

Owen is also still behind developmentally. We rejoiced as he learned to walk at the age of seven, but he still struggles with endurance and balance. But despite the difficulties, Owen keeps moving forward. He works really hard to learn new skills, and is persistent.

Misdiagnosis: An Angelman Syndrome Story

Sleep problems are also a part of life with Angelman Syndrome. Owen’s almost 10, and he’s never consistently slept through the night.  Sleep deprivation is definitely something our family knows about.

I think the hardest part is Owen’s lack of communication. He can’t speak, but I know he has a lot to say. I can see it in his eyes. I wish I knew what he was trying to tell me.

Love

Owen’s taught our family a lot about life, about faith, and about love. His story has been a journey that’s changed our entire family.

Today’s guest poster is Lisa Tanner a homeschooling, homesteading, freelancing mama of seven. You can find her over at lisatannerwriting.com, or on Twitter @lisatannerwrite.

Lisa Tanner

4 thoughts on “Misdiagnosis: An Angelman Syndrome Story

  1. A beautiful letter on a condition not known by many. I am new to this family, but I have always been impressed with the love and patience that is shown and given to Owen. Never a harsh word is said, but encouragement is always given. I am sure that it must be hard at times, and it must break your hearts that he would be doing so much more and interacting much more without this burden. Owen teaches. I am not sure if you are aware of this but he does. He shows kindness and wonder at the outside world.
    I am so glad that Andy and Mindy, met and fell in love, it has given Gary and I such a rich opportunity to meet and enjoy your family. i am sure you get frustrated at times, I am sure that you wish things were different, but you handle this situation beautifully, all of your children are smart, clever, willing to help, and very loving. I enjoy being around them Lisa, I think you and Brian do a fantastic job!

  2. I admire and appreciate you and your husband and family!!!!! Linda is my friend and she has shared her love, appreciation and respect and constant patience for you. The Lord has and will always bless you, he knows that you are extra special spirits. Thank you for your example!!!!!

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