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Still coming to terms with my child’s diagnosis, I then decided to search for information on my son’s rare chromosome disorder on google.
Here is what I found:
List of Associated Conditions
- Speech and Language delay
- Small head size
- Malformations of the kidneys & urinary tract
- Heart defects
- Increased likelihood of Autism or ASD
- Mental health issues – Anxiety/Depression/Schizophrenia
- Poor motor skills
- Likelihood of difficult behaviour
Visiting the Paediatrician
Myself and son’s dad met up with the paediatrician, who informed us that the signs and symptoms for this rare chromosome disorder varied greatly in people. We were referred for blood samples, to see if our son’s chromosome disorder has been inherited from either of us.
The paediatrician handed us both a leaflet, which was the first time we were introduced to Unique.
After our visit to see the Paediatrician, we were referred to a Geneticist, and for our son, an Occupational Therapist.
Leaflet from Unique
The Unique leaflet (Information on the rare chromosome disorder) allowed us to understand more about our son’s diagnosis. I was able to understand that our DNA is structured with 23 pairs of chromosomes, 1 pair being sex chromosomes. (Here comes the science…) Chromosome 16 plays a vital role in our health, development, and brain function. Chromosomes have two arms called P and Q. P is the short arm of the chromosome and in region11.2 of arm P is where my son’s duplication is located. Only 3 in 10,000 people have this rare chromosome disorder.
Our blood sample results came back and confirmed that our son inherited 16p11.2 microduplication from his dad.
Grasping onto hope, my son’s dad and I sat down with a Geneticist looking for answers. From optimism came reality. The Geneticist was limited on the information she could give us on 16p11.2 microduplication. She handed us a leaflet from Unique, which we had already received. Now, all the arrows had pointed to Unique, a charity that helps families living with rare chromosome disorders to help us gain information.
Amid of all of this, mine and my son’s dad’s relationship had deteriorated. We just grew apart and became strangers. In other words, I felt like a failure and as though I had emotionally been in a boxing match.
I had to put on my coat of armour and get back to going to work and taking my son to school, and his appointments.
My son attended an Occupational Therapy Assessment. From this, we discovered that he had fine motor delay and his coordination was below average for his age.
The Occupational therapist also noted proprioception difficulties and Sensory Processing Disorder.
We cannot get a diagnosis for this as our local authority does not commission the diagnosis.
Sensory Awareness Programme
The Occupational Therapist (OT) signposted me to a sensory awareness programme, which I attended. The OT provided me with a list of sensory and fine motor activities to do with my son to help him develop his motor skills. He also received two sessions of self-regulation therapy.
Autism Spectrum Disorder
My son received his diagnosis of Autism Spectrum Disorder around six months after his chromosome diagnosis.
The paediatrician sat me down to say those words, and she paused to wait for my response. (I did not give her the emotional response she expected). I was emotionally drained by this point, so did not know how to respond.
From previous assessments, I kind of knew he was autistic, and saw all the skills that he had. I then discovered that not everyone had the same outlook as me.
In addition, I became aware of the lack of awareness, limited opportunities, and hurdles that we would have to overcome.
The Anxiety Reaper
I have a lot of work experience in the hospitality industry, which is fast-paced. Working in hotels can be full on, and there can be a lot of multi-tasking going on. Even though it is busy and chaotic behind the scenes, you have to smile and give the illusion that everything is running smoothly.
Well, I adopted this approach in my life. Boy did I fool a lot of people. Over the years the demands of life chipped away at me. I gradually became numb. I took a deep breath, opened the door, and smiled my way through the day.
I remember taking my son to the doctor surgery. As the surgery was busy, my son started stimming. (The noise was too loud, so he was in distress).
He laid down on the floor with everyone in the room staring at us. A few people decided to make some unhelpful comments. I heard a few sly remarks by adults. The receptionist banged on the window, I had to say that my son’s autistic. With this in mind, the room went silent and although I was close to walking out, I stayed for my son.
I forgot that autism is an invisible disability where people are too quick to judge.
I remember from a baby, my son enjoyed being in the water. To make him happy I enrolled him in swimming lessons for beginners. (Although, the happy swimming experience did not go to plan).
The instructor said to me after a swimming lesson, (in front of the other parents) that my son was not listening to her. After this, my son was left standing in the pool as the instructor taught the other children; so, I immediately stopped him from attending swimming here.
I remember one time taking my son food shopping, he started stimming. The guy in front of me told me off for him making too much noise and that I should smack him. Here is just one of many comments we would get from strangers.
Along the way, friends disappeared, and we felt like we were shunned by society.
I felt guilty having my mum (who was looking after my nan who had Alzheimer’s) looking after my son as I had to work.
I also felt guilty as a mother that I couldn’t do more for my son, although I would later learn how to help him with his needs.
With Struggle Comes Love
Through all the hurdles and hard climb up the mountain, I gathered strength. All the things I want to do in life, I just do them now without hesitation.
My son is now part of a swimming club for autistic children, where their swimming club was recognised for their contribution to disabled sports in 2015!
Unique provided us with a connection to others who have the same condition as my son and the opportunity to go to Switzerland for research. For this, I am incredibly grateful.
Carers in Bedfordshire provided me with the support and referred me to a great counsellor who helped me with this journey. Thank you.
Thank you to friends (who remained) and family for being there. I give thanks to all the charities, and individuals who have helped my son along the way!
Most importantly, I thank my son for his sheer determination to try at everything he does and not to give up. From this journey, I understand the importance to help others, for it is together that we are strong.
My final thoughts are, even though I do not know what the future holds, I can tell you that I no longer feel numb, I finally feel like I am LIVING!
Note: The contents in this post is for information purposes and is based on personal experience. I am a patient member of Unique and Carers in Bedfordshire. I received no payment or any other commission for this post.
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