Abdullah's Early Days & Diagnosis

Abdullah found peace in December 2022 at almost 3 years old. We are so grateful for the time we had with him and the blessings and learning that will live on from him. 

Abdullah has Type A. He was diagnosed at 2 days old. Cpmp was trialled with him but was discontinued after a week as we felt the risks of a central line would not outweigh the benefits as he had already suffered extensive brain damage. Cpmp is unlikely to affect his day to day life however we have found several therapies and medications which help make him more comfortable.

Day to day life      |             Therapies          |       Reflections 

Abdullah has taught us so much.

Before I share our early days story, diagnosis and daily reality with you, I wanted to just emphasise how we see our little guy and how much he lights up our world. Often, when I tell people I have a complex needs child they immediately react as though I am facing a terrible tragedy or that my child is somehow cursed. Our reality is so far from that and I feel I can speak for myself and Abdullah that we don’t need anyone to feel sorry for us. He is completely whole, completely perfect, as he is. I don’t need him to be more like this or like that. I just want to enjoy everything that makes him who he is and he has taught me the importance of doing the same with his brothers also.

When Abdullah was born (‘overdue’ like his brothers) he appeared healthy and, just as during my pregnancy, nothing seemed out of the ordinary. I was in the post birth haze just taking each step at a time and looking forward to being home with his brothers. When he first started having seizures they looked so much like he was shivering, or trembling from crying, which I’m used to newborn babies doing, all in their own ways. When the midwife recognised he was ‘jittery’, as she put it, they ran all the usual blood and gas tests, had him reviewed by a doctor and sent us home. However another sleepless night with a very distressed newborn made it clear something was definitely not right.

Following that it was an absolute whirlwind back in hospital as they did everything they could to stabilise him and figure out what was wrong. As the day went on his jittery episodes increased and a fierce and attentive registrar who was our hero that day, explained to me that they were seizures and they were running out of medications to stop them. Abdullah was taken to the High Dependency Unit (HDU) where we were told that if they could still not stop his seizures, he would need to be put under general anaesthetic. This would require some wonderful anaesthetists to intubate him (put a tube down his throat to breathe for him). Then he would be transferred to a Children’s Hospital with a Paediatric Intensive Care Unit (PICU) where he could be cared for properly and they could try to figure out what had made him so unwell.

Every single person who was involved in his care on that day was phenomenal. From the doctor that took my husband and I to one side to explain the possible outcomes of our situation with great compassion, to the registrar I mentioned previously who brought me a biscuit having known I had just given birth and hadn’t eaten all day. HDU felt like a very safe place for us and it has always felt that way since we have had to go back. I did not feel like he was their patient. He was their treasure, their cause and they surrounded him with the love and passion that he needed to keep him with us when he was at his most vulnerable.

Seeing him in the little space like pod completely asleep was a strange and terrifying feeling. I did feel as though I was looking into his coffin. It was even more surreal sitting in the ambulance with him with the amazing NEWTs team (a mixed team of paediatric specialists), where we had to stop along the way to stabilise him again and they told me might have to turn back as he may not make it. Eventually we made it to the Paediatric Intensive Care Unit (PICU) in the middle of the night where all we could see was the lights of medical machines and monitoring and all we could hear was the beeps of the equipment and the hushed conversations of the incredible PICU staff.

The next day we met a Metabolic Consultant and Neurologist who shared with us the possibility of a Mocd deficiency diagnosis. They explained that his urine would need to be tested and a vitamin to replace the potentially missed co-enzyme could be given, then the changes in the urine would be monitored. This vitamin was unlicensed and therefore required special permission for compassionate use which, through the hard work of the Metabolic Consultant, we were granted. It was evident by the next day that a change had taken place and their suspicions were most likely correct.

However a diagnosis is never a line in the sand. We also had to accept that the boy in front of us had experienced prolonged and ferocious brain damage as a vulnerable infant and only time would tell if he could recover and what his reality would be if he did. We knew he may not wake up or come home with us. I was expressing milk, going to lie down for a bit, coming back to express more and try to be by his side as much as possible. We took each day as it came as we just didn’t know if he was going to wake up. Then one morning around 4am as I came back to PICU, I noticed a note on Abdullah’s cot.

"Mum and Dad, tonight I opened my eyes for the first time."

No words describe that feeling when your precious loved one feels like they have almost slipped out of your hands and then when you least expect it they show a definite sign of still being within your grasp. The next day he played hide and seek with his eyes until days later they were wide open and he was fully with us and breathing so well by himself that he no longer required intensive care.

Then it was a blur of finally being able to hold him properly without several tubes and wires attached, and being prepared to take him home. We were told about the Community Acute and Ongoing Needs Service, we met his phenomenal palliative care nurse, we learnt about children’s hospices, care support and were trained in giving NG tube feeds and medications. We were given first aid training and training in how to administer his emergency seizure medication. His siblings stayed with us and were delighted to see their baby brother. To them, he was just their baby brother. Everything else everyone around us was saying was of no interest to them, they just wanted him home so they could surround him with their pure and unconditional love.

Eventually we were granted the blessing of taking him home and beginning the whole other whirlwind of getting used to caring for him ourselves with the incredible support of the community team and the consultants from the Children’s Hospital.

  Day to day life      |             Therapies          |       Reflections