On a good day, parenting will test the integrity of your character. On a bad day, parenting will test your will to live. Parenting children with trauma histories will cause you to test the integrity of everything and everyone you thought you knew, for the rest of your life.
~J. Skrobisz

Sunday, January 24, 2010


At our house, the TV is usually tuned to the Discovery Channel or SyFy, public television or History. I think it's all of those years as an educator, I just don't see the merit of programming that doesn't educate. Plus, for Aspie Boy, the scripted sitcoms don't hold a lot of value for him. So this afternoon we were watching a program about primordial dwarfism.

Aspie Boy was as riveted as I was. The documentary centralized on a particular family in New Zealand that had a 9 year old daughter with the disorder, the sole documented case in their country's population. The chronicled story line unfolds as the family connects with the American Little People Association and a handful of moderately knowledgeable physicians in the U.S. that could diagnose her daughter's condition and assess any other physical complications.

I was particularly intrigued by two things, Aspie Boy's continued interest in programs about persons with impairments and with the documentary's portrayal of the mother's unending quest for answers and resolution to her emotional distress about her daughter.

It's hard to gauge Aspie Boy's comprehension and apparent fascination with other inflicted persons. I watch him, his facial cues and the flickers of understanding or doubt that flash in his eyes as he watches these stories. Once he watched a documentary about the only living twin female autistic savants and he was captivated by their abilities and the similarities he recognized in himself. Today's documentary had him pacing and interrupting to ask me a lot of questions. I gathered that the child's physical issues alarmed him. He was very concerned about her life expectancy but was equally interested in comparing her mental abilities to his own. He kept justifying himself and trying to compare what his experiences are with the experiences of the child in the program. I took the time during the commercials to ask him questions. Did he was the same or different? What did he think of her impairments as they compared to his challenges? He wasn't really able to articulate his thoughts but I know he was thinking about it because as soon as the program was over, he wanted it to still be on. I opted to turn off the television instead because he is inclined toward obsessions. At this moment, he is outside, swinging very hard on the swingset. That's his way of saying I'm overwhelmed, I need to make myself feel better.

I had similar feelings but not about the child's impairment, rather I connected to the mother. She just kept searching for answers for her child, pinned emotionally by the isolation of being the only family in New Zealand afflicted by primordial dwarfism. They went to the Little People Convention and she was overwhelmed with emotion when she saw other families with children with the disorder but was doubly impacted by the harsh realities and stark truths of how it afflicts the patient and their loved ones. The lack of medical knowledge about the disorder makes it very challenging. The parents of the children are admittedly the best diagnostician's. Several medical professionals explained the medical field's ignorance because they held the opinion that the advances in neonatal care in the last 20 years are the sole reason there are surviving children with the disorder. Previously, the physical challenges were so severe the infants rarely survived. The mother's emotional progression challenged me because I hope that one day we will have a connection for Aspie Boy's issues..

Aspie Boy has a genetic root to his spectral symptoms. His genetics team has been trying for 5 years to diagnose him. I believe he has F-G syndrome, a sex-linked chromosomal deficiency that was first diagnosed in the late 70s. Diagnosis is hard to pin down and currently only one facility in the country is working on blood tests to isolate the gene. That facility is 45 minutes from here. They did their initial test with negative results but have also said that the initial test is often a false negative, that the more specific tests that they are currently developing will rule out those false results. I've attempted to convince Aspie Boy's geneticist of this with no luck. Our most recent lab work was flown to Spokane, WA to do a 4000 point microarray. I'm hoping for results, something, anything at all. It would be so nice to finally have an answer, to be like the mother in this documentary that finally connected with people and families that understood her daily challenges with her child.

If we don't get results, the geneticist will diagnose Aspie Boy as "undefinable genetic disorder having exhausted current medical science" or something along those lines. But it may not be enough to get us assistance. It most certainly won't be enough for me to genetically counsel his sisters toward the chance they'll carry the gene or have children with the disorder. It also means I'll remain the mother that continues to quest on behalf of her son, searching for answers, looking for other families to connect with, attempting to put a face and a sense of hope to my child's impairments. For now, I have the autism community and that will have to be enough.


Ashley said...

Hi Jennie. I'm disabled too, and a lot of kids I know who have disabilities, as well as me, get a bit fascinated with documentarties, books, etc about people with illnesses/disabilities at a certain point. How old is your son?

I find it's just something we do to try to find people "like" ourselves, it may be where the comparison is coming in. But, you're the mama, and I understand the need to keep him from obsessing.

Ashley said...

Hey Jennie. That open dialogue is hugely important. Congrats to you and your family for being able to have something like that.

shashank said...

Here is a link to more information about the genetics of FG Syndrome that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/FG_Syndrome/744. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA