When Abdullaziz Al Shukry and his wife became proud parents of a baby boy, little did they know that their happiness was momentary.
“The mystery began when Abdullah was born. He began vomiting and would not breast feed and was transferred almost immediately to an ICU in Kuwait and stayed there for four months. They could not tell us what was wrong in Kuwait and we were so worried – we wanted to make sure our son had the best treatment,” recalls Abdullaziz.
“One of the doctors said that it was due to a lack of oxygen. Another said it was liquids on the brain and he would get better while one doctor said he would not live another six months. I was so worried. We didn’t know what was wrong with Abdullah,” the dad says.
Finally, it was Great Ormond Street Hospital (GOSH) that offered them their answer.
Once at GOSH, Abdullah was seen by Dr Sophia Varadkar, an expert neurologist, who diagnosed the baby with a rare condition known as molybdenum cofactor deficiency. The condition is caused by the absence of molybdenum cofactor which leads to an accumulation of toxic levels of sulphite and neurological damage. Abdullaziz remarks how grateful the family was to know what was wrong so that they could begin to care for him properly: “Previously I was worried about him, now we know what is wrong, I am happier. We were lucky to have amazing doctors treating our son. They treated him like their own child - they took amazing care of him.”
The little one also had other series of complications including a hypertrophic cardiomyopathy, which is a condition where the heart muscle overgrows and causes problems in the outflow of blood from the left sided pumping chamber. He was then referred to the expert care of Dr Alessandro Giardini, a paediatric cardiologist at GOSH specialising in the care of children with congenital heart disease and hypertrophic cardiomyopathy.
“Abdullah had hypertrophic cardiomyopathy which was causing his heart muscle to bugle, causing a narrowing on the way out of the left side of the heart. The condition meant he was very vulnerable to even small infections. If he had caught an infection it would have put his heart under a great strain that could have potentially caused him to suddenly die.” Dr Giardini explains. “This condition is very common in adults and although rarer in children it is not unheard of. We need to raise the awareness of this condition for the public, as it can result in sudden death. It causes chest pain, shortness of breath, palpitations and sometimes sudden death, but it can be treated and managed.”
“I had been managing Abdullah’s hypertrophic cardiomyopathy with medications for a number of years,” Dr Giardini explains, “Unfortunately, the situation evolved to the point where the medications were not sufficient anymore.” Dr Giardini was able to offer Abdullah an operation called a myectomy whereby some of the excess muscle of the heart is carved out and removed to allow space for the blood to come out of the left side of the heart. “As expected,” Dr Giardini says, “Abdullah’s recovery was long, but he has made very good progress and is much better than before the operation.”
While Abdullah will still have complications associated with molybdenum cofactor deficiency, he has recovered well from the operation. “He is still in the ICU but we are solving the problems now,” Abdullaziz says.
The baby’s future looks positive, with a loving family dedicated to providing full-time care for him, he is achieving things that his family weren’t sure were possible when he was first diagnosed. “We never expected him to be able to react to us because he has bilateral brain damage but he reacts to us: he knows exactly who he is talking to.”
Abdullaziz and his wife have taken great care in following expert advice to treat Abdullah as a normal boy. “I believe part of reason behind his progression is because of the care we give him and the fact we treat him like a normal boy. I take him everywhere,” Abdullaziz says proudly, “I take him swimming – he does everything. I am willing to do everything for him, he’s just amazing.”
Great Ormond Street Hospital in London is recognised as one of the few truly world-class hospitals for children.