Who am I?

I am Amanda, a stay at home mother to two wonderful children, Fiona & Ferris. Fiona has Autism, possibly caused by a small genetic deletion at 22q13.1 (but not the region attributed to Phelan-McDermid Syndrome - although she presents similarly), but we cannot say for certain, as her particular deletion is undocumented. In other words, according to medical literature currently available, she is the only known person with a deletion in this exact region, and so it is of "unknown clinical significance" and we have no idea what her future holds. Currently she is almost completely non-verbal, her only real word with any real meaning being "boob" as she is breastfed. *gasp* Yes, you read correctly, my almost 3 year old daughter still nurses, and I'm proud of that fact. Ferris is a neurotypical little chubba bubba baby man. He gives me sanity, and hope, and comfort for the future. He is nearly 8 months old at the time of this writing, and he is my charming, adorable, little-big guy. He is also breastfed, and doesn't seem to mind sharing with Sissy, who is the neatest thing since pureed peaches in his eyes. Want to know more? Just ask!

Monday, March 21, 2011

Catching Up is Hard to Do

Okay, so where were we?

I think we were at 2 years old, with a referral to see a specialist. That sound right? Okay, carrying on...

It took about 3 months to get the appointment for the specialist. Everything had changed at this time. I had a new baby, Ferris, and I was struggling with PPD, and PTSD from a traumatic delivery. I had also recently lost my father a week before my son was born, and now I was having to come to terms with potentially having a child with Autism. To say I was a mess would be a major understatement. Thank goodness for my friends and family supporting me and lifting my spirits during this time. I was completely lost.

After the initial evaluation appointment with the specialist, she told us she was pretty sure Autism would be an appropriate diagnosis, even though she is an atypical case, she meets enough criteria for it, but she wanted to check a few other things before giving her the official label. She wanted us to speak with a geneticist to rule out certain conditions, particularly Rett Syndrome. She said that it is uncommon for girls to have true Autism, and we needed to rule out other things first.

So off we went to see a geneticist, and had Fiona give a blood sample (that was fun O.O), and wait another 5 weeks for results. We honestly didn't expect anything to turn up on the test, it was just a process of elimination, and this was one more step we had to go through. Finally, we got the phone call with the results.

"First of all, one of the things we tested for was Rett Syndrome, and she does NOT have that, so that's good. Unfortunately we did find that there is some missing information on one of her chromosomes. This particular deletion is undocumented, and I need to research it further, but I'll see what I can find out on it, and then you can come in and we'll discuss what this all means. The good news is, this is a diagnosis, and you can use that to get her all the help she needs. Let me put you through to my receptionist, and we'll get you in sometime in a few weeks to go over this."

Holding back tears, and feeling a lump forming in my throat, I waited for the doctor to transfer me to his receptionist, and schedule another visit to go over the results, hung up the phone, then tried to calmly explain to my husband and mother what I was just told. We were out and about that day, in Mom's mini-van, and I was sitting in the back with the kids, and trying to keep myself composed and not break down in front of everyone. I tried to tell myself that this didn't change anything. Fiona was still my perfect little girl, she was still so smart, so perfect, so beautiful, happy, and healthy. And really, who could ask for a sweeter little girl? But now she had a label, a stigma, an unknown, and I felt the floor drop out from under me. Suddenly I was plummeted into a whole new world of despair, confusion, anger, hurt, and heavy sadness.

This also brought other fears to mind. Was there something wrong with me? Would all of my children be affected this same way? Would Ferris be this way too? Should I have any more children at all? Is it too much of a risk? Unfortunately, I still don't have the answers to most of those questions. I know Ferris does not have this, he is such a different child in so many ways, and I have no concerns of him having any issues. I don't know however if this was something passed on to her through myself or my husband, and unless I want to pay out of pocket for the genetic testing (which runs around $3k per person tested according to the insurance statements from Fiona's testing) because the insurance generally won't cover it unless there is a specific reason for it, such as suspecting the individual being tested has an issue themselves. Parental testing is rarely covered, we were told.

The next two weeks really dragged on. I was so anxious to have an answer, to know something, and at the same time, I didn't want to know. I wanted to go back to a time of being in denial, burying my head in the sand and pretending none of this was happening, but that wouldn't do anyone any good in the end. Fiona needed me to be strong, to be her advocate, to get her all the help and resources she could get, to help her develop, learn, and grow to her full potential, and to do that, I had to know what we were facing.

Finally the day came to hear the results in detail, and it wasn't as bad as I expected. She had a very small deletion at 22q13.1 and 4 genes were involved in this deletion, but not much was known about each particular gene or what this meant for her. One gene is associated with a seizure disorder and genetic phenotype, but she doesn't really fit the diagnostic criteria for it. They are going to test her for it anyway, but its just as a precaution more than anything, and I'm not concerned with it. We should know the results of that one soon too.

Basically we were told that this may or may not be causing her delays and Autism, and it may or may not mean anything, and may or may not be inherited, and she may or may not learn to speak, and we may or may not ever know anything for certain, because she is the only one with this deletion. I always knew she was unique, but wow.

Since then, we've started physical, occupational, and speech therapies, and she seems to be showing slow but steady progress, and we are all hopeful for her future, and optimistic that she will talk, that she will grow, flourish, and show the world how smart she truly is.


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