Saleh Al-Sada – Propionic Acidemia

At eight years old, Saleh Al-Sada traveled 7,000 miles from his Persian Gulf home of Qatar to UPMC Children’s Hospital of Pittsburgh.

This journey let him get the vital organ transplant needed to save his life. Specifically, a liver transplant from his mother, Manal, who was compatible to provide part of her own liver for her son.

The Challenge: Heart Failure Caused by a Rare Metabolic Disorder

Soon after Saleh was born, doctors diagnosed him with propionic acidemia (PA). This disease, which can be life-threatening, presents quickly in infants.

Symptoms include:

• Poor feeding.
• Lack of interest in food.
• Spitting up.
• Fatigue.
• Weak muscle tone.

PA is a recessive genetic disorder where the child inherits a specific faulty gene from both parents.

In people with the disease, the body can't break down certain amino acids and fats. This can lead to a buildup of harmful acids and toxins in the blood.

If not carefully managed, metabolic crises can occur.

These crises often affect the nervous system and may include seizures. Sometimes, they may cause heart problems.

In Saleh's case, he suffered from heart failure.

To help manage PA in infants, they follow low-protein diets, use special formulas, and take antibiotics.

“He was very sick from the time he was born, and his disease is complicated," said Mrs. Al-Sada.

Saleh's doctors found a formula that worked for him, but he didn't grow for the first month of his life.

In his first year, he needed a feeding tube for nutrition and medicine. The tube stayed in place until after his surgery.

Through the age of four, Saleh visited the hospital often due to health and nutrition problems.

By the time he was five, he became more stable. He started to eat, gained weight, and went to school.

Things Start Looking Up for Saleh

In spite of his PA, things seemed to go well for the next two years.

Like other boys his age, Saleh liked playing basketball, tennis, and video games. But at the age of seven, he experienced rapid deep breathing that needed medical care.

Doctors said his lungs were functioning properly, but found he had cardiomyopathy. This is a condition where the heart is extremely enlarged and weak and can't pump blood efficiently.

At first, doctors didn't believe his PA was to blame. Instead, they thought it was a virus or another cause.

But specialists discerned that Saleh's metabolic problems were the cause of his cardiomyopathy.

“One complex complication of PA is heart disease, which reports to get better with liver transplant," said George V. Mazariegos, MD, FACS.

Dr. Mazariegos is the director of Pediatric Transplantation at UPMC Children's Hospital. He's an expert in liver transplants as a cure for metabolic disease. His team performed Saleh's liver transplant.

At first, Saleh's doctors in Qatar tried to manage his PA with heart medication.

“His condition did not change," said his mother. “He had high blood pressure, rapid heartbeat, weakness, and sweated at night."

That's when doctors told the family that a liver transplant might help Saleh.

His doctors spoke with Dr. Mazariegos and then suggested the Al-Sadas take their son to UPMC Children's Hospital in Pittsburgh.

They cautioned that the wait time for a donor could be long – maybe a year or more.

Concerned about her son's frail condition, Mrs. Al-Sada asked if she could be the living donor to speed up the process.

“We had said that it would be advantageous for the patient to come with a living donor," said Dr. Mazariegos. “We were glad to hear that his mom was considering that."

Although Mrs. Al-Sada (like her husband Badr) carries the defective gene that resulted in Saleh's PA, she doesn't have the disease. Her own liver functions normally.

Transport for Transplant

In 2015, UPMC Children's Hospital's International Services team arranged for the Al-Sadas, including an older brother, Abdulla, to come to Pittsburgh.

Once there, doctors assessed Saleh and his mother and got them both ready for the transplant

At UPMC Presbyterian, doctors removed part of the left lobe of Mrs. Al-Salah's liver. The staff then rushed it to Dr. Mazariegos and his team, who were waiting at UPMC Children's Hospital.

Mrs. Al-Sada said the hardest part of her own surgery was waiting a week for her to be discharge from the hospital. Only then could she see her son in the PICU at Children's.

Saleh's surgery was more complex, and it took longer for him to recover.

After the surgery, he needed a long period of sedation. He was also on a ventilator short-term to help his weak lungs while his heart got stronger.

Saleh showed signs of improved heart function after the first week.

After two months, he had recovered enough that his doctors discharged him to the Children’s Home of Pittsburgh near the hospital. Once again, the Children's International Services team helped with this process.

At Children's Home, Saleh started physical and occupational therapy to help him regain the strength he'd lost due to illness and surgery.

When his progress allowed, Saleh and his family moved to an apartment in Pittsburgh. From there, he continued to visit the hospital for therapy and checkups with Children's specialists.

Mrs. Al-Sada was nervous at first about having to give Saleh his many meds following his discharge. But she said that after a few days, it became routine.

The Path Home

Six months after surgery, Saleh's heart condition and breathing were much improved, and his liver function was normal.

“The heart is not normal for his age, but it is much better," said Mrs. Al-Sada at that time. Each month they do an echocardiogram, and we see the improvement. The heart is stronger and smaller. His heart rate and blood pressure have been stable for a long time.”

Since PA is a systemic disease, liver transplant isn't a cure.

“However, the pathways of the organic acids are present to a large degree in the liver. So, treatment of it greatly improves with liver transplantation," Dr. Mazariegos said.

Saleh's metabolic control had improved, and he had fewer dietary restrictions. Doctors were also able to wean Saleh from some of his drugs.

Mrs. Al-Sada's left lobe will fully grow back. Meanwhile, the part transplanted into Saleh will grow as if it was his own liver.

Liver transplant for children's metabolic diseases is increasingly proving to be a viable treatment. And UPMC Children's Hospital has a proven record of success.

With related living donor transplant, parents and family members can often be the donors. This leads to improved outcomes due to shorter wait times and better genetic matching from healthy living donors.

Dr. Mazariegos said Saleh's case was innovative because the liver donor was also the carrier of a gene that caused his PA.

Mrs. Al-Sada's gift allowed Saleh's heart to heal and his metabolic condition to improve. And she could do this while still preserving her own liver function.

It's an example of how a living-donor liver transplant can provide a life-saving option for young kids with serious metabolic conditions.

While she looks forward to their return to Doha, Mrs. Al-Sada had high praise for UPMC Children's Hospital.

The focus on children in the hospital setting is unlike anything in Doha. And the personal focus on Saleh, mostly from the nursing staff, made the difference.

“They did a good job taking care of me and my son. The nurses think of everything. So many people here were very nice.”

Today, her hope is that Saleh grows up to become a doctor – like the many who were part of saving his life.