Well, that’s what this blog post would be about if I knew more about chromosomes….
Yesterday afternoon, we headed back to the Children’s Hospital for an appointment with the Dr that diagnosed Jovie with Autism and a Developmental Delay back in September. At the same time of that diagnosis, Jovie had some bloods taken to test for Fragile X and Rett’s Syndrome.
The Fragile X test came back clear a month or so ago – but we were told the next test would take another 2-3 months to come back with any results. Hence my surprise and nervousness last week when they called us to come in to see them.
So the result?
“Chromosome Microarray testing detects a duplication within chromosome 10, band q25.1”.
“… cannot rule out Rett’s Syndrome”
(So it wasn’t a ‘deletion’ as she mentioned to me on the phone).
Not good or bad, nothing that changes our lives for the better or worse right this second.
What does it mean? They don’t know. Which means we don’t know.
Because they don’t know whether it relates to Jovie’s disabilities, Regan and I have had our bloods taken to check chromosome 10. If one or both of us has the same disorder, then it’s likely she’s inherited it from us and it’s got nothing to do with Autism or Developmental Issues. If none of us have the same duplication, then it’s a random thing – it could be a new disorder altogether apparently. There’s just not enough data in the books to say ‘yes, this duplication causes X and Y’ or ‘yes, this is an indication of Autism’. They can’t rule out Rett’s Syndrome because the testing is limited.
Oi. Have I lost you yet?
We’ll wait for the results and we’ll continue with our lives – playgroups, therapy and lots of love. I need to also sort myself out – get back to ‘work’ and dig myself out of hiding… We’ll see our neurologist soon and then the geneticist, and then the paediatrician and whoever else we need.
So this is an update to say ‘hey Jovie also has this awesome thing about her’. And I say awesome because the more I think about DNA, and children and myself and the world, the more I find life amazing and beautiful and unique. Sure, Jovie has her struggles but we’ll be ok. And that’s life, that’s the way it goes for our family.
Everything that has happened in the last few months has changed me, and even though I don’t know where I am headed myself, I know that this life is meant for living with every part of our chromosomes.
Note to say – I don’t mind sharing parts of Jovie’s reports because I know over time (maybe not today or next week), someone will do the same Google search as I am doing now and I want them to feel free to contact me. So contact me!
Meegs RCN • 
Marta • 
anonymous • 