The road to a diagnosis can be long, stressful, exhausting and scary. We hit all of those points and more on our almost two year journey to the diagnosis.
From about eighteen weeks pregnant I knew in my heart something was "off". I went into preterm labor at that point and thus began what would become a lifestyle of medical intervention. Surgeries, bedrest, meds, weekly ultrasounds, hospital stays. I had to emotionally detach myself from my sweet Will, because the doctor and I truly didn't know if he would make it. Every week brought successes and challenges and nine months felt as though it would never be seen.
When I went into labor the Sunday after Halloween, I was shocked we made it so far. The delivery went fast and was uneventful, save the huge medical team waiting for Will to make his appearance. He didn't cry when he was born but he was pink, which I knew was a good sign. A family member in the delivery room told me the NICU nurses were frantic because he just wouldn't suck. About five attempts and a gentle "flick" in the roof of the mouth and he latched on. 9 and 10 apgars and we were on our way. We had done it, my OB and I beat the odds and here was this amazing little boy. They released me the next day but Will stayed one more night due to him being so congested and having a hard time feeding. Red flags in hindsight.
I brought this little guy home and went through about nine bottles until we found one that he would latch onto. The rest just left him laying in a puddle of formula - he couldn't latch on for anything. We were rolling along in life, adjusting to a newborn at home again, I went back to work and Gab back to school and Will to daycare. At about 11 weeks old my best friend Anna pointed out that the cold that we thought Will had just didn't seem right, seemed more severe than a cold. So off to the local ER we went at 11:00 at night, expecting to be sent home a worrisome mom. Instead we were taken by ambulance to Rainbow Babies & Children for what would be the first of many, many stays in hospital for us. He had pneumonia and was pretty sick. That stay ended up being nine days and he contracted RSV while there. The impending hospital stays have since all blurred together in my mind and while I remember them individually if I really strain to think about it, they all seem to be one long stay.
Around 10 months we realized he wasn't reaching developmental milestones. He wasn't sitting up and his reflexes were lacking or missing all together not to mention the lack of muscletone. An attending pulmonologist pointed it out in the coldest way, speaking to his resident and never addressing me. When you are counting breaths, looking for labored breathing or your child looking blue you really lose track of things like cooing and sitting up. He was so full of steroids he was bloated, I chalked the lack of gross motor skills to that.
From 10 months to 23 months I put on my best Dr. House MD cap and turned my passion for medicine, which I've always had, into a search for an answer for my baby. I was met repeatedly with "he was a late preterm preemie, this is normal, by 2 he will be caught up" over and over and over. Come back in 6 months, they'd say. I finally crossed paths with his current pulmonologist during a stay at Rainbow and she became our biggest advocate. Dr. Milgram is, was and will always be the biggest cheerleader I have for my son and I honestly don't know where we'd be if we hadn't met her. She started the tests that first proved he aspirated liquids - ha, a reason for all the pneumonias. I hugged the radiology staff the performed the swallow test and they were stunned - they had never been hugged for giving bad news. But it was something I could work with. From there we received global developmental delay, astigmatism, hypotonic, laryngomalasia, respiratory distress disorder, the list went on and on and on and on. We did scopes and biopsies and blood work after blood work. Nothing. It all came back relatively normal (save GERD).
On a hopeless night I went to trust Dr. Google (which I don't normally recommend if you are personally attached to a person who is sick - but I was desperate) and typed in every single diagnosis Will had. The first matching hit was a Word document on various neurological disorders for a medical school in California (whose name I honestly can't remember). The highlighted section was for Angelman Syndrome. I had never heard of it, so I started to research.
Will definitely fit the profile - gait issues, little teeth that were spaced out, fair hair, tremors, lack of developmental milestones. I remember being stunned. I took it to his doctors, called the geneticist I heard great things about - and got shunned. Again. Angelman Syndrome? He wasn't handicapped enough, he was too alert, his head was normal sized, he wasn't seizing. One doctor took a medieval looking medical tool and ran another tool along the edge - it made a high pitch sound. He said all angels loved the sound, gravitated toward it and laughed maniacally at it but Will didn't so he couldn't have it. The next great doctor was his gastroenterologist, Dr. Laurie Mahajan. She listened, God love her, she LISTENED to me for two hours. She agreed something was off and she ordered the tests I wanted run. That day we tested for thyroid function, Fragile X, chromosomal array, and Angelman Syndrome. Some time passed and I watched Will's MyChart account. One by one, tests came back normal - including Angelman Syndrome.
I was crushed. Back to square one. I was wrong, I could admit it -I wasn't a doctor. So I resigned myself to having a syndrome we couldn't identify. I kept plugging along, researching, researching. Coming up with nothing.
October 14, 2011 was a dreary fall Friday. Driving home after a long week my cell phone rang and, while I didn't have the number programmed into my phone, I recognized it as a Cleveland Clinic number and answered. It was Will's neurologist at the time. Ms. Winger? he started. Can you talk? Asked me if I remembered the Angelman Syndrome test that was ran. I said yes, and it came back normal. It isn't AS, I get it. The next sentence would forever change my life, and almost made me drive off the road.
"We ran the wrong test Melissa. You were right, we were wrong. William has Angelman Syndrome, the second test came back positive."