Joshua Kadum - Living with partial Trisomy 18
Joshua Kadum
The day Joshua was born was one of the happiest days of our lives. The birth went smoothly and we were able to use the birthing pool which was always a dream! For the first 6 hours we were in a perfect newborn baby bubble. We couldn't wait to introduce Joshua to our 3 year old daughter Emily, who was so excited for the new arrival.
After around 6 hours Josh showed us a few signs that something wasn’t quite right. Josh was slightly blue; his cry was weak and his feeding wasn't good. He was unable to breast feed at all. His sucking reflex was weak. Every concern we had we voiced to many different healthcare professionals, but each time were reassured. The professionals felt that these things weren't anything to worry about initially. I guessed I was just being a typical anxious new mum!
At 13 days old Joshua developed a cough so we took him to the GP. She took one look at him and realised he needed an ambulance straight to hospital.... all my worries and concerns so far were shared by her. I had known something wasn't right all along. We had never felt so scared as we waited for the ambulance. That was the start of the real rollercoaster that was to come. To cut a long story short, after over 2 weeks in hospital he was diagnosed with a diaphragmatic hernia, 2 holes in his heart, thickening of the muscle of his heart, along with the acute problem of bronchiolitis. He needed HDU care for the bronchiolitis and had an operation for his hernia. Every day was hard. Seeing our beautiful tiny baby going through so much pain was just awful. But we kept thinking at least all these problems were potentially curable and Joshua would be able to lead a normal life.
Whilst Joshua was in HDU a doctor we hadn't met before came to see him. During her examination she reeled off a list of problems Joshua was dealing with now... One of which was the possibility of a syndrome. The possibility of a syndrome hadn't been mentioned to us before... I felt like I'd been hit by a bus. This wouldn't be something that would be curable. The doctors had no idea what syndrome he may or may not have had, which made it even harder to cope with. The weeks following were hard waiting for genetic testing results.
On Christmas morning while Emily was opening her presents we had to call an ambulance as Joshua developed breathing difficulties and went blue. He had bronchiolitis again and ended up needing HDU care. We were in hospital all over the Christmas period. While we were there, his results from the genetic testing came back.
We were told he had Partial Trisomy 18. We were really hopeful because his was only partial trisomy rather than full. However, when we saw the geneticist she said that due to the large part of his chromosome that is duplicated, he should be considered to have full trisomy 18. She said his life expectancy would likely be dramatically shortened. She said he only had a 10 percent chance of reaching his first birthday.
The next few days were truly awful. We felt a sadness that we had never experienced before. Every time I saw Emily talking to Joshua and cuddling him I felt so sad and thoughts about the future kept entering my head. Would he ever be able to play with her? Would we lose him young? How will we cope? Would we ever see the milestones we were so excited about? The future scared us so much.
Joshua's first year was hard. 5 hospital admissions, 2 operations, numerous hospital appointments, countless home visits, x-rays, cannulas (with numerous attempts) HDU admissions, Occupational therapy, physiotherapy, speech and language, dietitian. Countless GP appointments. Some weeks we had appointments daily, sometimes more than one a day. Quite different to the expectations of baby groups and walks with the pram!
We were told at one point to stop giving him oral feeds as he may be aspirating his milk. This was a devastating blow as we thought he may never have the opportunity to taste and enjoy foods. Such a thing we take for granted, but something we were really looking forward to doing with Josh. I remember with Emily getting so excited giving her her first taste of food. I wanted to have the chance with Josh too. Thankfully Josh passed his video fluoroscopy (swallow study) and we were allowed to feed him! He likes to drink milk from a bottle and has a few spoonful’s of pureed food. He doesn't have much, but he has that chance to taste food and he enjoys it.
One of the most amazing moments was when Joshua smiled for the first time. I remember wondering if he ever would smile. I just wanted him to be happy. At 4 months he gave us his first little smile and since that day has smiled more and more each day! He now spends the majority of his time giggling, smiling, laughing and being the happiest, cutest boy, you could ever meet!
As each year has passed Josh seems to get healthier and stronger and continues to exceed expectations. He's just celebrated his 5th birthday. He's had no hospital admissions in the last couple of years, has beaten COVID and many viral infections.
It can be hard at times caring for Josh. And we do sometimes find it difficult with all of the appointments and professionals involved in our lives. There are many challenges, including sleepless nights and ensuring all 3 of our children are able to do the things they enjoy, which can be difficult when you have a child with additional needs. It has however become easier over the past 5 years to deal with the challenges we face because we've learnt many lessons along the way.
When people ask what it's like having Joshua, I refer to him as our 'big baby'. He reminds me of a around a 5-month-old baby. He's nonverbal but lets us know his feelings by laughing, crying and screeching haha! He loves cuddles, baby toys, sensory play and us singing songs to him (round and round the garden and this little piggy went to market being 2 of his favourites!). He's sociable and absolutely loves attention and human interaction. He goes to school where they take him swimming, work on his strength and do lots of sensory activities with him. He uses a wheelchair and staff use a hoist for him at school. We still lift him at the moment but are in the process of applying for house adaptions with a downstairs bathroom and ceiling hoist.
Although having a child with severe disabilities was something we were not expecting and not part of our 'plan', we wouldn't change a thing. Having Josh in our lives brings everyone so much happiness and joy and we have learnt so much from him. We are lucky to have him. He truly is an amazing little person!
After having Joshua we decided we would like to have one more child. This was quite a scary decision to make, and we thought long and hard about what to do. We decided in the end to go for it and we were lucky enough to get pregnant with our third child, Harry. He completed our family and Emily (8) and Harry (3) absolutely adore Josh. It's so wonderful watching them giving Josh so much love and being so caring.
We still don't know what the future holds for Joshua but we've learnt since having Josh to really live in the moment. We don't think too far into the future and just enjoy the now.
Katy Kadum, Joshua’s Mum
November 2022