Every parent hopes that their child will be born safely and healthily. But for one family in India, their daughter’s birth brought a host of concerns about her health. From infancy, the girl would burn up with fevers, even though there never seemed to be a cause. Testing showed that her platelet counts and hemoglobin levels would drop to significantly below the average. As reported by The Hindu, doctors initially thought that the girl was just extremely susceptible to infections. It wasn’t until doctors recommended genetic testing that the family learned the real underlying cause. The young girl was diagnosed with a rare condition called hyper IgD syndrome.
Attempting to Find Help
It was hard for the girl’s parents to watch her face so many health struggles at such a young age. Doctors initially treated the girl with multiple rounds of antibiotics, but her fevers never budged. Getting the official diagnosis felt, at first, like a win. Now the family and doctors knew what they were fighting; now they could find effective treatment options.
But then they were hit with another roadblock. Canakinumab, a once-monthly biologic medicine marketed under the brand name ILARIS, showed remarkable promise in treating hyper IgD syndrome. In other areas of the world, the drug was helping people manage their conditions and get their lives back. The only problem? It wasn’t accessible or available in India.
The girl’s doctors refused to give up that easily. They reached out to anybody who would listen—and their perseverance paid off. Eventually, they were able to get six doses of canakinumab to treat the girl. Since starting treatment, the girl has not had debilitating fevers. She is now happier and better able to participate in fun activities with her family and friends.
About Hyper IgD Syndrome
The National Organization for Rare Disorders (NORD) explains that hyper IgD syndrome exists on the spectrum of mevalonate kinase deficiency (MKD). This rare autoinflammatory disorder results from MVK gene mutations. These mutations lead to lower mevalonate kinase enzyme activity or levels. Researchers don’t understand exactly why this causes health impacts, but the lower the level, the more severe symptoms usually appear.
Symptoms of hyper IgD syndrome typically appear within the first year of life. This disorder is characterized by “attacks” of fever and chills that often last for several days at a time. During these attacks, people may also have joint and muscle pain, stomach pain, swollen lymph nodes, chills, and a reddish rash on the skin. Additional symptoms may include nausea and vomiting, mouth ulcers, an enlarged liver and spleen, diarrhea, headaches, and throat inflammation.
There are a number of different therapies for hyper IgD syndrome, which you can find here. However, continued research into this condition and how to best treat it is still needed.
