When you are contacted by another family who have a loved one with the same genetic mutation.
Last year we completed our genetic testing with a result.
We were given the answer we had sought.
Our son had a change in the TUBB2B Gene resulting in an underdeveloped brain.
It was then also shared with us that this was an extremely rare mutation that was unlikely to happen again.
They said there weren't many other children with the same genetic mutation and at this point couldn't connect us with another family.
I thought nothing more of this, as I didn't feel it absolutely necessary to connect with other families.
We had either met or connected with other families who had children with lissencephaly, microcephaly, epilepsy, visual impairment, feeding tubes, and felt that we had developed wonderful friendships with many families we could relate to and share support and experiences.
So, I guess there was no burning desire to meet families who had a child with the same mutation.
The genetic side of things were forgotten.
It became a rare occurrence that I would speak about the TUBB2B Gene.
Let's say, there was no real need to discuss it as it wasn’t in our daily routine.
Things like therapy, consultations, equipment reviews etc didn’t require any discussion over his diagnosis, it was more the disabilities, epilepsy, reflux side of things that were mentioned, the obvious struggles Zachariah was facing.
Then earlier this month I received a Facebook message from a lady in Italy.
Her message explained that she had come across my name in Google after searching ‘TUBB2B Gene’.
This lady wanted to introduce herself, connect, and share stories as she too had a child with the change in the TUBB2B Gene.
My initial reaction was quite laid back, I thought to myself that it was lovely of her to connect, but also shocked that we were found via Google… power of the internet for you!
This lady wanted to know everything about Zachariah and how the Gene mutation had affected his life.
I shared our story as detailed as I could and answered everything I could.
It then occurred to me how thorough this lady was and how keen she was to know more about the mutation and find a cure.
When we received the diagnosis, that was it, it was the answer without any further questions.
I started to doubt my decision to leave it be and wondered if there was more to it.
I told my husband about all of this and his reaction told me that we were right to leave it as there's nothing more to it than it's an extremely rare mutation that happened during the making of Zachariah, which was completely out of our control.
I then received videos of her child and found myself feeling thoughts I hadn’t felt for a long time.
It was here I started to panic and feel extremely uncomfortable and not in control of my emotions.
I think deep down I hadn’t wanted to see another child with the same rare mutation as I wouldn’t like to compare.
The videos showed a happy, gorgeous, vocal child who was so active and aware, they showed a child who could feed herself solid foods and communicate quite well with her Mummy.
My heart was full of joy for this little girl.
My head was confused!
How can 2 children with the exact same mutation be so different?
Why did Zachariah face so many more challenged and life limiting conditions?
For a minute I lost myself again, and my reasoning that I had worked so hard to achieve.
It didn’t happen instantly, but I did come out of this and this Bible verse popped in my head,
It was here that I was reminded that each and every child is unique and wonderfully made, and just because these 2 children have the same mutation doesn’t mean they should be identical...
As how would that be fun anyway, as Zachariah is who he is and he is an absolute diamond!
He has his quirks, his achievements and his humour.
Would I want to have him the same as another child?
No! I want him for who he is.
This lady has now formed a Facebook group with 4 other families in there too.
I will be joining in and sharing Zachariah's achievements and struggles with them, but I will be protecting my heart from comparisons.
Life is a journey not a done deal, we will stumble across the same barriers but it’s what we do with this that will make sure we are back on our journey and enjoying life once again.
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