Wiskott-Aldrich Syndrome: Two Siblings with Very Different Outcomes

In a story from Vietnam News, doctors in Hanoi, Vietnam at the Central Paediatrics Hospital announced for the first time that they had performed a successful bone marrow transplant using the stem cells of a toddler’s older sisters to cure his Wiskott-Aldrich syndrome (WAS). The disease causes a compromised immune system, subjecting the patient to life threatening circumstances.

Wiskott-Aldrich Syndrome

Wiskott-Aldrich syndrome is a rare disease known for eczema, bleeding spots due to a deficit of platelets, less functional immune system, lessened ability to form blood clots, recurrent infections, and higher risk of severe autoimmune disorders and cancers. The disease is caused by an X-linked genetic mutation, meaning the disease primarily affects males. While the disease varies in severity based on the type of mutation, patients tend to only survive five years. The only current treatment option is stem cell transplants or experimental gene therapies.

Finding His Diagnosis

The family described how this baby began to show the characteristic bleeding spots on his belly just the day after his birth. The rarity of the disease meant the family didn’t know anything about the disease and neither did their initial doctors. However, the same mysterious symptoms had taken the life of a previous child, so they knew it was not to be taken lightly. The family and doctors decided to transfer him from the local hospital to the Central Paediatrics Hospital in Hanoi. However, just a week after his birth, tests came back normal, and they sent him home to Quang Ninh in the north. Nevertheless, the symptoms persisted. When he visited the hospital in September, they found the bleeding spots continued, and he also suffered from bloody diarrhea and low platelets. The doctors finally issued the final diagnosis of Wiskott-Aldrich syndrome.

His Stem Cell Transplant

The toddler’s health regimen and monitoring stepped up once they understood his condition. Normally, patients can only survive for five years post-diagnosis, so his medical team knew action was needed quickly. The only treatment option was a stem cell transplant.

They took samples from his family members to search for a cell donor to give him stem cells to replace his own, and identified his older sister as the most suitable candidate. The toddler first required chemotherapy to wipe out his existing, diseased bone marrow. He then had the transplant, and three weeks later, his new cells had already developed at 87%, and his blood index was at healthy levels. Just two weeks after that, his new cells had reached 100%, indicating the operation had successfully given him his health.

The doctors explained that this stem cell transplant has been the only successful way to save WAS patients’ lives. The operation is expensive though, costing the family from hundreds of millions up to two billion VND, around $100,000. While it was partially subsidized by their health insurance, the financial burden on the family was still extremely taxing. However, the operation is a full cure. While the family lost a child to the disease, this time the diagnosis gave them an option to intervene and they took it, making history as the first family in the country to have a child with this disease cured.

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