Tuesday, July 6, 2010

What's the Deal with Jonah

I was 38 weeks pregnant with Evie when Jonah and I made our way to the county hospital lab. I was emotionally numb from the evaluation we had just left. It was in a fog that I navigated the stroller through the sterile-smelling hallways, only halfway reading the signs that were directing me to our next destination. We were getting too familiar with blue signs and grey lettering telling us which way to go- almost like we aren't in control of our own paths anymore.

"They said he wasn't" I whispered, disbelieving, under my breath. "Everyone has said that he wasn't- he isn't..." I stopped for a second to ponder which direction to turn. Did we miss it? No, I see the signs ahead LAB. "Should we get a second opinion?... I should get a second opinion.." I rolled the stroller in front of a receptionist's window and tapped on the glass. I silently handed her the paper work and my ID and took a seat in the waiting area.

Jonah wanted out of the stroller. I lifted the tray and helped him slide down the seat. I watched him circle the group of chairs twice, touching a particular screw on each chair as he passed, then coming back to the stroller he stooped down and started rolling the wheel with his hand. My heart began to ache. "He's autistic" I said to the completely empty waiting room.

At first the diagnosis was surprising to me. His speech and occupational therapists out of the Toledo hospital told me just days before the evaluation, that they felt he absolutely is not autistic. The nurse, who is our early interventions coordinator, told me when she was setting up this appointment that she felt he is not- but she would set it up to put my mind at ease. Some of his preschool teachers (who are also occupational, speech, and developmental therapists) agreed with me that he showed some strange behaviors that resembled that of an autistic child, but most of them too, had told me they didn't believe he would be diagnosed with it.

On the other hand, sometimes I tell myself that I shouldn't have been surprised. I should have been prepared to hear someone say very directly "Your child has classic autism." He can be very social with adults, sure. But there are times when his behavior has just been screaming autism to me. When he is screaming at music class because I sat him on the parachute for a song about colors. When he absolutely cannot pass an open door without shutting it, throwing a tantrum if you make him move on while leaving the door open. When he is outside in the driveway standing pieces of sidewalk chalk on end for almost an hour, letting out a blood curdling scream if one of the pieces in line falls over. When a child approaches him on the playground to play with him, and he pushes them down and, completely expressionless, walks away to hide under the climber. These are times when I am not surprised by the diagnosis.

The official diagnosis the PDD specialist and developmental pediatrician gave me was classic autism and apraxia. She sent us to the lab to have some genetic testing done to see if he had any genetic markers that have been linked to the development of autism. She explained to me that not all individuals with autism have these genetic markers, but those that do seem to benefit from different kinds of therapies than those that do not have the markers. When they were drawing his blood, something which we have been through several times before, I felt overwhelmed and suddenly the room was spinning.

I woke up on a cot only to see Jonah sitting in his stroller, sticky and blue, and placing Donald Duck stickers all over his tray. "I hope you don't mind dear, he was so frightened when you passed out I gave him a sucker and some stickers. The kids love my blue suckers!" I'm sure the parents share the sentiment... I thought as I watched some blue drool land right on his white shirt. Another nurse came to get Jonah- she'd be holding him this time, she informed me. They left the room, I heard Jonah scream for a second, then he reappeared brandying yet another famous blue sucker with a smile.

Weeks passed and I had nearly forgotten about the genetic testing. Evie was born. we took her for her first pediatrician appointment. We had to wait a little longer for the doctor to come in, which I thought was strange since I had just seen her in the hallway and she was obviously done with her previous patient. When she finally came in, she oggled over Evie telling me how "absolutely perfect" she looked. The typical well-baby visit ensued, albeit with a few more questions than I liked about the manner in which she was born. After Evie was checked over, the doctor sat down. "I wanted this visit to be just about Evelyn" she said "but I just got a phone call right as I was about to come in to see you." The call was from the genetics lab. Jonah has three genetic anomalies. Two of which the lab has no information on, but one of which has an actual name. Several names, to be correct. Jonah has 22q11.2 deletion syndrome, otherwise called catch 22, 22q deletion, digeorge syndrome, and velo-cardio-facial syndrome.

After talking to a few more doctors, and gathering as much information as I could, we've come to realize that this answers every health question we've ever had about Jonah since the first moments after he was born. It covers everything. From spitting up through his nose and choking when he was first born, to the failure to thrive, to the orthopedic problems, and even the autism (to an extent.) Everything. We are also learning that we are very fortunate, as a lot of individuals with 22q deletion have very serious life threatening conditions such as heart problems (way beyond Jonah's benign murmur.)

We have been referred to a clinic in Columbus that specializes in treating children with 22q. This is a relief, because they will have all of the specialists there that Jonah would need to see rather than having to run around to a million different appointments. It's also nice to know that the doctors we will be seeing are experts in cases like Jonah's. Right now the doctors on his team have merely heard of the syndrome, but don't know much about it.

So this is the place that we are at right now. It is a little overwhelming, but we are beginning to get used to everything.

If you want to know more about Jonah's syndrome, visit these websites:


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