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 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

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