Diagnosis: The Journey Ahead Part Two

*This post is for information purposes and is based on personal experience. I am a patient member of Unique, Carers in Bedfordshire and Carers UK. I previously volunteered with Unique and volunteer with Carers UK. I received no payment or any other compensation for this post.

A Micro-Duplication of Chromosome 16p11.2

Still coming to terms with the diagnosis, I did the worst thing you could do. I googled the disorder. You know when you pick up a prescription and read the list of side effects and think that you could get all of them? Well, it was exactly like that:

  • Speech and Language delay
  • Small head size
  • Malformations of the kidneys & urinary tract
  • Heart defects
  • ADHD
  • Increased likelihood of Autism or ASD
  • Mental health issues – Anxiety/Depression/Schizophrenia
  • Seizures
  • Poor motor skills
  • Likelihood of difficult behaviour

I was thankful, however, that my son’s disorder was not life limiting.

I felt overwhelmed with mixed emotions. Once myself and my son’s dad met up with the paediatrician, she informed us that the signs and symptoms vary greatly in people. She then referred both of us for blood tests to see if the chromosome disorder had been inherited. We were also referred to a Geneticist and our son, an Occupational Therapist. This was when we were handed a leaflet and first introduced to Unique.

We began to understand more about his diagnosis once reading the leaflet. 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 condition. My way of coping with this at the time was saying that I just have more of him to love.

Later the blood test results came back and confirmed that our son inherited the disorder from his dad.

Geneticist

Grasping onto hope, my son’s dad and I sat down with a Geneticist looking for answers. From optimism came reality. The Geneticist had never come across this disorder before so was limited on what she could inform us. Now, all the arrows had pointed to Unique, a charity that helps families living with rare chromosome disorders to help us gain information.

In the midst of all of this, mine and my son’s dad’s relationship had deteriorated. We just grew apart and became strangers. We both continued to support our son but not as a couple.

Feeling 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.

Occupational Therapy

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. He also has proprioception difficulties, and the therapist noted Sensory Processing Disorder. We cannot get a diagnosis for this as our local authority does not commission the diagnosis.

The Occupational Therapist signposted me to a sensory awareness programme, which I attended. I was also provided a list of sensory and fine motor activities to do with my son to help him develop his motor skills. She also helped my son through self-regulation therapy.

Autism Spectrum Disorder

Six months after the chromosome diagnosis, my son was officially diagnosed with Autism Spectrum Disorder. When the paediatrician sat me down to say those words, she paused and waited on my response. By this time, I had no more emotion left to give. I had gone through so much that nothing else would shock me. Besides, my view is Autism is not an illness, it is a way of life. (and rightly so)

Autism is a beautiful and unique outlook on life that everyone should take the time to understand. I just saw all the skills that my son had through having autism, however, later discovered that not everyone had the same outlook as me. I then realised the lack of awareness, limited opportunities and hurdles that we had to overcome.

The Anxiety Reaper

Having experience working in the hospitality industry, even if the back of house was chaotic, we still had to come out to serve with a smile to give that illusion that everything was 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 in the mornings, opened the door and smiled my way through the day. Although, at night-time I would cry myself to sleep.

My son would run off when upset, his meltdowns were a regular occurrence. He also became very constipated, so I took him to the doctors. I remember the doctor surgery being busy and my son started stimming. The noises were getting louder, and he then laid down on the floor. Everyone was staring, I heard a few sly remarks by adults. The receptionist banged on the window, I had to say that my son has disabilities. Suddenly, the room went silent. I was close to walking out but stayed for my son. I forgot that Autism is an invisible disability where people are too quick to judge. My son was then prescribed with Movicol.

I remember from a baby, my son enjoyed being in the water. To make him happy I enrolled him in swimming lessons for beginners. This did not go to plan. The instructor said to me in front of the other parents that my son was not listening to her and from then on, he was left standing in the pool as she taught the other children. I immediately stopped his lessons 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. Also, along the way, friends disappeared. At this moment, I felt like we had been 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 worked part-time. Suffering from migraines and lack of sleep, I continued prodding along until one day at work I just froze. I cried uncontrollably and was mentally and physically exhausted. Anxiety had taken over my life.

With Pain Comes Love

Through all the hurdles and this hard climb up the mountain, I gathered strength. I truly understand the meaning of unconditional love and am more determined because of this. The things I want to do in life, I just do them.

To think that I was worried that my son would never be able to talk. Boy has he made up for lost time. (He talks for England!) He can catch a ball and write too! He has been enrolled for 4 years to a swimming club for autistic children. In 2015, his swimming group was recognised for their contribution to disabled sports!

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 very 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 my son’s school and my friends and family for being there. I thank you dearly. I give thanks to all the charities, professionals and individuals who have helped my son along the way!

I thank my son for his sheer determination to try at everything he does and not to give up. You are my inspiration. You have inspired me to volunteer with Carers UK (previously as a workplace champion and social media volunteer, and now as an insight volunteer). I also volunteered with Unique to help provide local information to carers. It is always important to give back. From this journey, I understand the importance to help others, for it is together that we are strong.

My son has the quality of life that he deserves. I don’t know what the future holds, but I can tell you that I no longer feel numb, I finally feel like I am LIVING!

Audio Transcript:

Donation:

*If you would like to make a donation to Unique, please follow the link below:

https://www.rarechromo.org/donate

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