Pakistani girl with rare disease receives younger sister's umbilical cord blood in Shanghai

Cai Wenjun
A 2-year-old Pakistani girl with a rare genetic disease that causes mental and motor decline received her baby sister's umbilical blood on Tuesday in the city.
Cai Wenjun

Editor's note:

Expatriate patients in Shanghai describe the local medical service as quick, professional, and high-quality. The city is expanding its international medical service to become a destination for expats seeking high-quality health care services. Shanghai is working hard to attain this goal, as international medicine entails more than only VIP services but also high-quality services in accordance with worldwide practice and standards.

Pakistani girl with rare disease receives younger sister's umbilical cord blood in Shanghai
Ti Gong

The 2-year-old Pakistani girl with rare condition receives umbilical cord blood from her younger sister at Fudan University's Children's Hospital in Shanghai.

A 2-year-old Pakistani girl with a rare genetic condition that causes a progressive decline in the mental and motor functions received a transplant of her newborn sister's umbilical blood in the city on Tuesday.

It will take one month to determine whether the seed of life can germinate inside the girl's body and halt the degradation of her neurological functions, such as muscle movement, intelligence, mood, and even personality.

The girl, the fourth child in the Saudi Arabian family, began to exhibit symptoms such as unsteady walking, eye problems, and difficulty grasping objects with her hands at the age of a year and a half.

Her parents took her to the local hospital, where doctors confirmed that she had metachromatic leukodystrophy (MLD), a rare genetic condition that damages the white matter of the central nervous system (brain and spinal cord) and peripheral nerves.

This condition is caused by autosomal recessive inheritance, which means that both parents are carriers, and their children have a one-fourth chance of being healthy, a one-fourth chance of being patients, and a half chance of being carriers. Both of the patient's brothers are carriers, and her elderly sister is also a patient with severe conditions.

The family took her to several hospitals in Saudi Arabia and even the UK, where doctors suggested a stem cell transplant, but they had to face the high cost and long waiting time.

A business partner in China told the patient's father about the Children's Hospital of Fudan University, which is wellknown for rare disease treatment. The family contacted the hospital, which launched an online group consultation on July 11 and offered a complete treatment plan and suggestions, with which the parents were very satisfied.

"The condition typically manifests symptoms when a child is 1 or 2 years old, and the consequences are irreversible. This patient is special. Upon learning of the mother's pregnancy during our online consultation, we made two recommendations.

"If the fetus is healthy, it can donate umbilical blood to the elder sibling. If the fetus is sick, we can begin treatment before the baby starts to show symptoms," said Dr Wang Yi, president of the children's hospital, one of the 13 leading public hospitals participating in the city's scheme to encourage local hospitals to step up efforts in offering international medical tourism products and streamlined health care services.

Pakistani girl with rare disease receives younger sister's umbilical cord blood in Shanghai
Ti Gong

The parents discuss the case with local medical experts during a group consultation.

Since participating in the program last year, the hospital established a special mechanism to enhance medical service for international patients. So far, it has received over 250 patients from 61 countries.

"We have gained valuable experience in streamlining visa, insurance, service, language, mental and life support, and patient management issues to align our hospital with international standards," Wang said.

"Our high-end medical capability and competitive cost attract international medical tourism, as demonstrated by this patient."

With the hospital's help, the family finished all the procedures and arrived in Shanghai on July 29.

The hospital organized a second expert group consultation on August 1 with the participation of obstetrics experts.

Thankfully, the test the next day showed that the fetus is a perfect match for the patient, in addition to being a carrier.

A third consultation was held on August 29 by professionals from Shanghai Cord Blood Bank to talk about transportation, difficulties related to transplants, collection of umbilical cord blood, and the treatment plan in its entirety.

The mother gave birth to the younger sibling on September 11 while the patient was undergoing pre-transplant care. The transplant was carried out on Tuesday, marking the conclusion of a months-long treatment that involved numerous experts from various departments.

"We are happy that our daughter can receive the treatment here, and I am looking forward to the good results," the mother said.

What is umbilical cord blood

Cells from umbilical cord blood can treat leukemia, several immune deficiency disorders, and most enzyme deficiency diseases. The odds of a match between siblings is one-fourth.

The baby's umbilical cord blood is banked after birth. Shanghai Cord Blood Bank accepts public and private cord blood donations.

The bank has performed 7,000 umbilical cord blood transplants since 2004 and is China's largest. Five-year survival is 60.35 percent, per international standards.


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