Today is World Down Syndrome Day and also UKIST’s 7th birthday and to help celebrate I’m very honoured to be sharing my story about my beautiful boy Reuben.
Reuben was born in January 2019 and came into the world rocking an extra chromosome. I knew in pregnancy that there was a 1 in 14 chance that Reuben would be born with Down Syndrome. I chose to continue on with my pregnancy and declined further testing knowing the amnio, (to confirm the diagnosis) carried a small risk of miscarriage. It was a risk I was personally unwilling to take as ultimately we loved and wanted Reuben from the line on the pregnancy test turning blue.
Reuben is now 5 years old and not once have I regretted my decision. I am blessed and proud that he is our son and it is a true privilege being his mum. As clichéd as it sounds my children are the best things about my life, my highlight reel, the centre of my universe and I just gravitate around them. He is the love of my life and is literally the apple of his dads eye. The bond they share is incredibly special and after experiencing some traumatic events in his own childhood I feel that Reuben has saved his dad in more ways than is my place to make public and in ways that only he could. My husband even turned to me the other night and said he thinks Reuben’s been sent just for him and I agreed. Reuben has brought such an immense amount of unconditional love and healing for his dad it would be hard not to agree. I would choose Reuben again and again in this lifetime and the next. He is such a special little boy.
When Reuben was 6 months old he was diagnosed with infantile spasms and we as a family found UKIST who are a fantastic supportive charity. Looking back Reuben started having the spasms when he was around 4 months old and they just became more and more frequent. I spoke about my concerns to his developmental paediatrician at this time and she told me IS was rare and to just keep an eye on him. His diagnosis eventually came at 6 months old and it was an incredibly traumatic experience. After I pestered his developmental paediatrician again he was admitted to hospital for observation. He was seen by 2 consultants during this time who both misdiagnosed his infantile spasms as his startle reflex. One of these doctors was incredibly dismissive of my concerns and gave me incorrect information saying there was no point in giving Reuben an EEG as they are unreliable at diagnosing epilepsy. She painted me as a neurotic mother and upon discharging him
from hospital her parting words to me were to “stay off Dr Google”. Only in this case Dr Google and my instincts as his mum were unfortunately correct and Reuben was indeed having infantile spasms. It took a further 2 weeks and me demanding they act to get Reuben re-admitted and an EEG undertaken. Within minutes of the EEG the consultant was called into the room and from their faces I knew it was bad news. I was taken into a side room by myself and told that his EEG was “riddled with epileptic activity”. At this point I felt my world collapse. As my husband carried Reuben in his arms I cried all the way back through the hospital from the EEG department to the children’s ward. There they discussed his treatment plan and decided to only start him on vigabatrin and not steroids as well as they were worried to give him steroids due to him having Down Syndrome (due to his apparent weakened immune system.)
The vigabatrin by itself did not control the seizures and I did the worst thing and googled and found outdated information around life expectancy. Basically saying that Reuben may be dead within 5 years from diagnosis. I understood at this point why there were chapels in hospitals as I found my way there collapsed to my knees and prayed hard for my baby boy not to be taken from me. It is literally one of my lowest points of my life.
I posted in every DS support group in desperation looking for answers and hope and that’s how I found UKIST. It was only finding the UKIST parent support group that some hope and rational thinking was restored for me. In particular I am incredibly grateful to Jenny Rawling who always made time to answer queries and has continued to make time and help and support the DS community by making herself available in the PADS new parents support group to support parents who are concerned their children may also have IS.
Eventually in Reuben’s case they introduced the steroids alongside the vigabatrin and within 12 hours the seizures had stopped completely. An EEG following the wean of the steroids was completely clear showing the treatment had been successful. He remained on the vigabatrin for a while longer until this was also weaned and thankfully no damage had occurred to his eyesight from this drug.
The whole experience was beyond traumatic for us as parents and I have been left with immense guilt about the delay in diagnosis and that I did not insist on an EEG being undertaken sooner. I constantly wonder if there had been no delay would his development be further along. I am so thankful that there are now NICE guidelines for the diagnosis of infantile spasms as these are so helpful for concerned parents to show to medics if they are worried. I now know that the only way for infantile spasmsto be diagnosed is through an EEG and that worried parents should insist on one being undertaken. I wish I had insisted instead of being fobbed off that it was Reuben’s startle reflex. There is a higher incidence of Infantile spasms in babies who have DS with approximately 5% of babies who have DS being diagnosed with IS. It is therefore imperative that new parents of babies who have DS are aware of the signs and symptoms of infantile spasms as they are a medical emergency and require prompt diagnosis and treatment to ensure the best possible developmental outcomes for the child.
Following Reuben’s diagnosis I posted our story in lots of DS support groups and I am so glad that the increased awareness led to parents getting more rapid diagnosis for their children. It made me feel that at least something positive came out of our dire experience.
So where are we now nearly 5 years from diagnosis …. well Reuben has a significant learning disability and needs support in all areas of his life. He is non-verbal and is currently being assessed for autism. His developmental progress is very slow despite intervention and there’s not so much a gap between Reuben and his typical peers – more of a gulf. He has mobility issues and can’t for example get in and out the car unaided, ride a bike or a scooter and he’d definitely be unable to ski! But Reuben is so much more than a I can do list. None of us should be judged and defined on our abilities and our worth as people definitely shouldn’t be based on ability. I’m proud of Reuben for who he is. He is his authentic self, he is unapologetically himself and content and happy with his life and I question how many typical people could say the same. He is accepting of all, has no judgement of others, is strong and even when all odds are against him he is resilient to the last. He is loved and valued and my hero who marches to his own beat. He inspires me to do and be better every day. And whilst it’s not all sunshine and roses and there are definitely hard days I couldn’t imagine my life without my brilliant boy. If I could ask anything it would be to please not make sweeping assumptions and generalisations about people with DS. If you’ve met one person with DS then you’ve met one person, everyone who has DS is different and just like the typical population have different strengths and weaknesses and different abilities. Please assume competence until proven overwise and if someone is non-verbal this does not mean they don’t understand. Please talk to them and treat them with respect, patience and understanding. Finally please join in today celebrating diversity and difference and celebrating all members of the DS community regardless of ability and please help to
continue to create a more kinder, inclusive and equitable society for people who have learning disabilities. I firmly believe everyone has something to offer the world and I know Reuben definitely does and brings his best self every day to every occasion.
And if you need further information about all things Down Syndrome related then please check out the fabulous charity DSUK Positive About Down Syndrome who have also supported us as a family since Reuben was a baby. If you are a new or expectant parent congratulations and enjoy your baby and please consider joining their facebook support groups as the support is amazing. Further information can be found on their website: /http://www.positiveaboutdownsyndrome.co.uk
