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!

Saturday, May 28, 2011

Dear Fiona,

Three years ago today, you came into my life, and made me a Mother.  Before then, I didn't really know what it was to be a Mommy,  but you taught me that life lesson.  You have taught me many things in your lifetime.  You started teaching me the very moment you were born.  The very first thing you taught me was what love truly was.  We all think we know what love is, but really we don't until the day we become someone's Mommy.  No one knows a Mother's love unless they are one.  You made me a Mother, and you taught me what love was.

You've also taught me a thing or two about patience.  I was never a patient person really, until you came along.  It is amazing how different I am today when compared to just three short years ago.  It seems like just yesterday you came into my life, yet it feels like you've just always been here too.  That goes back to knowing what love is, a part of it.  Time flies, but when you really love someone, you feel like you've carried them in your heart since the moment you were born yourself.

When you were born, Fiona, I had so many dreams for you.  Over time, those dreams have changed and transformed, but make no mistake I still have so many dreams for you, those dreams are just different now. I will never underestimate you, I will always be your advocate, and I will always encourage you to achieve all that you can and more.  You are someone very special, and you are meant for greatness.  You will show the world what you are capable of, and I will cheer you on every step of the way.

We've had some bumps in our road together, but we are learning how to get past them every day.  We are moving mountains, princess, and we will keep traveling this path full speed ahead.

Fiona, I want you to have a super happy Birthday, full of fun and love, and I hope you know today how special you are, and how special you are every day too.  This is your day, sweet girl, your day.

I love you.  You have made me a better person, just by being here.  I will always be there for you, I will always pick you up when you fall, I will always put your happiness before my own.

Happy Birthday, Princess.

Saturday, May 21, 2011


There is a little known condition called Adenylosuccinate Lyase (ADSL/ASL) Deficiency, otherwise known as Succinylpurinemic Autism. It is caused by a mutation on the ADSL gene, which is located on the 22 chromosome, specifically at 22q13.1. If you've been paying attention, you might recall that Fiona's genetic deletion is at 22q13.1, and involves 4 genes. One of those genes is ADSL. Basically she is missing that gene, or a part of it, I'm not sure exactly how extensive the deletion to that gene is, I just know that she has a deletion involving four genes at 22q13.1 and one of them is ADSL.

Considering her symptoms, and the existence of this super rare disorder known as Succinylpurinemic Autism, her having Autism, and having a deletion on the gene linked to this disorder, her geneticist wanted to test for it. We did a urine sample, which took forever to get, but we finally got it, and they ran the test. The thing they are looking for in the urine has a cutoff number of 15, so basically any level below 15 is considered to be in the normal range. Anything over is grounds for further testing for this disorder. Fiona's came back at 16.5.

So what does this mean? It means we need to do further testing, but there is a good chance that she has this. So far there are 60 known/diagnosed cases of this worldwide, though they suspect there may be more that have gone undiagnosed. Fiona might make that 61 if the further testing confirms the diagnosis. The next test usually involves a lumbar puncture to check the levels in the CSF, and if that were to come back positive, a DNA test would then be done to confirm. We are going to opt to skip the lumbar puncture and just do the DNA test. It's way less invasive. Obviously.

Prognosis usually isn't super for those with this condition, with many of them actually dying in the first year of life, mostly related to seizures, which is a common symptom of this condition. Fiona has never had a seizure, and I hope she never does. This is a good sign, as most that develop seizures do so early on, but there are known cases where they had late onset seizures as well. It will always be something I will have to watch for and worry about.

Not everyone knows this, but my brother was epileptic. I know firsthand how scary it is to see someone you love go through a seizure. I wouldn't wish it on anyone. Knowing that there will always be a chance that my daughter might go through that is heartbreaking. This also brings up another thought. My brother's seizure disorder was of unknown origin, and late onset. He had his first seizure at the age of 12. He had very mild mental retardation, and mild autistic traits. He spoke, though he did have a few speech impediments, but he was verbal. Did he have a mild form of this disorder too? It is autosomal recessive, inherited, which if I understand correctly means both parents would need be a carrier? I could have that wrong, I'm not an expert by any means. But I gather from my reading that it is inherited, so chances are there could be others in the family (on both sides potentially) with this disorder or chance of it, if that is in fact what Fiona has, which of course we have not yet confirmed.

So much to process. And it is so frustrating when the few answers you get just raise more questions than anything.

Edit: A very wise person pointed out to me that there very well may be many people (as the medical journals suggest) who have this condition but are undiagnosed, or just have an ASD label. And if that is the case, and they only test when it is suspected due to unexplained MR & seizure disorders (or in Fiona's case a deletion on the gene that causes it), there very well MAY be many people out there with milder forms of this that aren't trapped under such a poor prognosis. This gives me so much hope - because had we not had the genetic microarray done - we would not have done the other test and would have no clue, as she does not have MR or seizures. Thanks again, Gill. You gave me hope when I needed it most. <3

Thursday, May 12, 2011

Thoughts on the Future

Something has been bothering me lately, a fear I guess you could say. I'm afraid of becoming afraid of my daughter. Not that she is vicious or evil or anything of that sort, quite the contrary actually, she is sweet as pie, and delightful to be around. That is, except when she is upset. We still have this total lack of communication, as she is still for the most part, aside from a few select words, non-verbal. She gets frustrated when she wants something, and cannot tell us what she wants, and sometimes we can't figure it out, and that makes her more frustrated, and then the tantrums begin.

Now, I know every child has their moments, and all go through a tantrum phase, but if you've not seen a full on Autistic toddler tantrum, you cannot possibly imagine what I'm even talking about. I mention this because every time I talk about it to anyone I feel like eyes are rolling at me on the inside, like, oh please, all kids throw tantrums, or I get the "I know what you mean, my kid throws tantrums all the time", but see I've seen other peoples' kids throw tantrums, and trust me when I say, unless you have or have been around a child with Autism, you have No.Idea.

Up until now her tantrums have been manageable I guess you could say. We do on occasion (okay daily) get kicked, slapped, or scratched. And you'd be surprised how strong this child is. Now she doesn't mean to be bad, she doesn't understand, she just cannot communicate, and it pisses her off, and she lashes out when we offer the wrong solution to her mystery problem. While it is an inconvenience now, it is, as I said, manageable. But for how long?

She is already incredibly strong. And growing like a weed. And she clearly has her father's tall gene. Those who know me know I'm a fair bit on the vertically challenged side. She will be bigger than me one day. What happens then? Is she going to throw these tantrums forever? Will there come a time when I am afraid of my own child? I know that I will never give up on her, I will always be there for her, no matter what, but please don't let it be so difficult forever. Someone please tell me it gets better with age and not worse...

This is just a thought that has been plaguing me lately. What am I going to do? I am her mother, and I will always take care of her, but what happens when I can't? Anyone with experience, with older children, please shine some light my way, share some wisdom, tell me what my future might hold?