When Roshni Tarang Kosamvia learnt that her four-year-old son was diagnosed with a rare disease called Wiskott-Aldrich Syndrome, their life would not be the same again but the bone marrow transplant came as a ray of hope into their lives.
Roshni recalls the struggle to understand why her son kept falling sick. Despite visiting several doctors in different cities, no conclusive reason behind his frequent illness was found.
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Diagnosing Wiskott-Aldrich Syndrome
Roshni who resides in Surat, Gujarat with her husband and only son, noticed that her son had recurrent fever at the age of three. “Doctors initially treated him for viral fever and infection. After a few months, he had continuous fever for six months while we consulted several doctors in Surat and Mumbai. He had fever with a temperature of 103 to 105 Farenhiet and pneumonia for two months,” she said.
Roshni said that the doctors in Mumbai diagnosed him with Wiskott-Aldrich Syndrome (WAS) in 2020 which was the first time they heard the term. It almost took a year to identify her son’s condition and start the right treatment.
WAS can be diagnosed through advanced tests. “Tests such as Karyotyping (detects chromosomal abnormalities), gene analysis, and WASP (Wiskott–Aldrich Syndrome protein) detection of cord blood can provide reliable service for prenatal diagnosis for high-risk pregnant women with WAS,” said Dr Praveen Bharadwaj, Consultant – Dermatology, Manipal Hospital Whitefield, Bengaluru.
Seen in male newborn
WAS is a disease with immunological deficiency and reduced ability to form blood clots. A multi-institutional survey of the WAS stated that the incidence of WAS is approximately one to four cases per 1,000,000 live male births, with an average age at diagnosis of 24 months in families without a previously affected family member.
“The doctors informed us that it was a rare condition and his platelet count had dropped drastically. We struggled to get platelet donors to donate regularly,” said Roshini.
According to the National Institute of Allergy and Infectious Diseases(NIAID) one-third of the boys affected do not have a family history of the disease as the mutation occurs in the egg, sperm or the fertilised egg itself.
“Children with WAS experience abnormal bleeding episodes, more frequent infections, an inflammatory skin condition known as eczema and a reduced ability to form blood clots. This condition primarily affects male babies,” says Dr Revathy Raj, Senior Consultant Paediatric Heamato Oncologist, Apollo Chennai.
Signs and symptoms
- Eczema
- Ear discharge
- Blood in stools
- Pneumonia
- Spontaneous nose bleeds
Dr Bharadwaj said that male infants typically present with severe persistent thrombocytopenia (a condition where the platelet count drops down drastically), recurrent sinopulmonary infections (infections involving paranasal sinus and lungs), opportunistic infections (infections caused by virus, bacteria, fungus or parasite) and recurrent bloody diarrhoea.
He adds that the first signs are usually petechiae (red or purple spots on skin) and bruising.
Bone marrow transplant, the only hope
The doctors informed Roshni that her son had to undergo bone marrow transplant. For the bone marrow transplant, the Human Leukocyte Antigen typing known as the HLA typing must match between the donor and the recipient which is determined by a blood test or swab sample from the cheek.
Speaking to Happiest Health, Roshni explained the ordeal the family went through after the diagnosis. The family went to Chennai looking for specialists and the boy’s parents took the tests required to check if they were potential donors for the child. “My husband had a 60% HLA matching following which the doctors carried out the bone marrow transplant. It’s been three years now and he is doing completely fine and leading a normal life,” she said.
Credit: US National Library of Medicine
Treatment
Dr Bharadwaj says that a high index of suspicion and prompt diagnosis is essential. “Children with WAS need vigilant general medical care. Prompt and aggressive treatment of infections, eczema, and bleeding is of utmost importance. General treatment strategies include the use of antibiotics, intravenous immunoglobulin (IVIG) therapy, splenectomy in special cases, gene therapy, and early hematopoietic stem cell transplantation,” he said.
Takeaway
- If Wiskott-Aldrich Syndrome is left untreated, it could be severe and fatal.
- Eczema typically develops within the first month of life.
- Recurrent bacterial infections develop by three months of age.
- Most children with WAS develop autoimmune conditions.
