To those of you who are familiar with my blogs you will know my story.
If not, let me update you now.
For a while, we expected that my youngest child had ADHD. This was due to her behavioural difficulties, which as she has got older, have also developed into learning difficulties.
We have had a battle accessing the support we have felt she requires (maybe I shall update you on that another time) but last year we were referred to a paediatrician to assess her and advise on steps forward.
Before a diagnosis of ADHD could be given, our little one had to undergo a number of tests (including blood samples) these blood samples have identified that she has two deletions in chromosomes (please see blog: chromosome deletion, scared to meet you).
For those of you, who don’t know (and I am learning over the world wide web) but by no means, an expert……
Rare chromosome disorders include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down’s Syndrome. Using the latest technology, it is now possible for smaller and more complex chromosome defects to be identified. The amount of chromosome material duplicated, missing or re-arranged can vary a great deal. This means that it may be difficult to identify two people who have exactly the same chromosome disorder. The clinical problems of those affected can also vary enormously even when the chromosome diagnoses are similar.
Now, we are several weeks ahead and I have had some time to digest the information that my little girl may have “more than just ADHD” and the new journey this takes us on.
Already, we have had letters through the post from the local hospital and the genetic specialists. They request that my partner and myself undergo blood test samples so they can look at us rather closely to see if the deletions our child has are indeed inherited or to quote the specialist, “a red herring”.
Knowing that my DNA is to be scrutinized so closely under a multitude of microscopes, looking for any tiny “abnormality” makes me anxious to say the least. If I am being honest, I don’t know how I feel about it, although I don’t like it.
Maybe it is the anxious part of me, which makes me think “What if…..”
What if the geneticists discover something about me I never knew I had?
What if they drop this bombshell that I have a deletion or two?
This would make “me” the cause of my child’s difficulties.
What good is it me knowing if I have a condition or even “diagnosis” I can’t change now I am in my mid-thirties?
I just don’t know if there is a benefit to knowing- do we really need to know?
With all these questions, whizzing around my brain, I decided to call the genetic specialist and ask her.
To be honest, I just blurted it out like this.
“So we have been sent blood forms, what happens if we don’t want them? What happens if we don’t want the genetic testing”
A rather pregnant pause followed.
“The reason these tests are conducted is because we want to see if your child’s condition is inherited or if is more of a red herring.
Yes, exactly I thought. “Inherited” from me? the exact thing I don’t want to know.
The geneticist went on to talk about just how much science has evolved and with that happening, it means that the tests are so precise in discovering a multitude of things about an individuals genes and DNA. And I do appreciate, just how fascinating this all this but I can’t help but think I am not “ready” to find out what potentially awaits.
She explained that it is parental choice, whether they get tested or not. But then confused me further, by saying that if our child’s difficulties are inherited (i.e me or her Dad have them, yet we are symptomless or don’t have the same problems) then the deletions may not “be an issue”.
Alternatively, if they have manifested as a “red herring” then this may mean there are other “causes” which will need “further testing…..”
(seriously confused face) so does this mean that its better to be inherited than not?
The hole of confusion I have been stuck in, just gets bigger and bigger.
So, it turns out, we don’t need to have the blood tests, but according to the specialist, it will restrict the amount we can find out about our daughter’s changes if we refuse them.
(Hey, rock and a hard place, give me a wave!) We have always and continue to want the best for our child and knowing that my refusal to participate in some test could restrict her well being in something just makes me feel overwhelmingly useless.)
To be honest, all of this is massively overwhelming, anxiety inducing and generally poo all at the same time.
Sometimes, I find it hard to believe that from going to a potential ADHD diagnosis I am potentially looking at something else, except I don’t even know what that “something” is.
Is there anybody out there who has any insight into how genetics really work and jargon aside, who have been through a similar thing? I would love to hear from you.
Even, if like myself, you have not experienced this before and are a parent, what are your opinions on this? I would love to hear from you. And as always, thank you for reading x