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Turning the tide for rare disease

A multi-centre registry for idiopathic pulmonary capillaritis

Brock Hughes describes his daughter’s ultra-rare condition, idiopathic pulmonary capillaritis, and the efforts to start a multi-centre registry to coordinate care for patients

By Geoff Case

A taxing diagnostic journey

One September morning in 2018 bought a rude awakening for the Hughes family. Holmes, their eighteen-month-old daughter had thrown up in her crib and was lethargic and pale.

“We went to the paediatrician’s office and they immediately sent us to ER. They found she had a haemoglobin level of just 3.3. They gave her two blood transfusions and diagnosed haemolytic anaemia, basically an iron deficiency. We were sent home with iron supplements and vitamins. Then we had months of craziness with symptom after symptom.” 

Holmes endured endless visits to doctors, chest x-rays and tests. Neither these nor genetic testing brought a diagnosis.

In April 2019, Holmes was admitted to hospital with what doctors thought was pneumonia and human metapneumovirus. She was put on high-flow oxygen and antibiotics. “After five days they were about to release us and send us home, but overnight her stats just plummeted. They put her back on high-flow and performed a bronchoscopy, which revealed blood in her lungs.” A lung biopsy was sent off to Seattle Children’s, and that brought a new diagnosis of idiopathic pulmonary hemosiderosis.

Holmes was in hospital for 15 days, and after she was discharged the family flew out to Colorado Children’s to see some specialists for that disease—the pulmonologist in Charlotte had never seen it before. There, the family was directed to Dr Timothy Vece, a leading paediatric pulmonologist at University of North Carolina (UNC) Children’s Hospital in Chapel Hill, just two hours from Charlotte.

The family had been pleased to introduce Holmes to Dr Vece and to his colleague, Dr Evelyn Wu, a rheumatologist; they were hoping that Holmes’ apparently good progress could be confirmed. However, as the family was driving home, Dr Vece called to arrange a follow-up visit for the next day: “I think she was misdiagnosed. I think, actually, her lungs are still bleeding.” Holmes had a bronchoscopy that confirmed that suspicion. At this point, Holmes received a new diagnosis: idiopathic pulmonary capillaritis.

Holmes’s treatment was intensified to include high-dose steroids, rituximab (a cancer treatment) and an immunosuppressant, and this continued until the start of 2022. “We are really lucky to have found Dr Vece and Dr Wu. Right now, Holmes is finally not on any medication, but we are still doing intravenous immunoglobulin (IVIG) infusions because otherwise she doesn’t have an immune response.” 

A multicentre registry for the condition

“Over the course of the last two and a half years or so, we have come to learn there are no approved treatments, because there have never been any studies of Holmes’ disease and there aren’t enough cases in any single centre, so we are raising funds to create a multi-centre registry. With that, we can have the first-ever study and can pull in data from patients around the country to coordinate care. Our goal is to raise $660,000 to find the registry for four years. After that we are hoping for grants and other funding.

“They still don’t know what causes idiopathic pulmonary capillaritis. They don’t know what it’s linked to or what the best treatment for it is. Everything’s disjointed with lots of guesswork because the condition is so rare and so there have been no studies yet.”

“Before we found Dr Vece and Dr Wu, we asked for a prognosis for Holmes. We were told that with no study there was no way to say what her survival chances were. We were devastated. Now, we want to bring awareness and knowledge to physicians and give families like ours hope.”

Hopes for the future

“If you look at Holmes right now, you’d think she was a normal kid. But actually she’s really limited in what she can do. She’s dependent on the IVIG infusions to give her an immune response, but she’s still not able to be around other kids indoors or go to school. She can only play with other kids outside—if they all wear masks. It’s really sad. She’s so outgoing and so joyful, but she definitely doesn’t have a normal childhood.”

Holmes is in remission, her doctors say, and the family now live with uncertainty—not knowing whether she will have a further bleed.

“We are getting there with funding, which is great, and thankfully, UNC are matching donations, which really helps. Roughly, we need to raise another $180,000, and we’re super hopeful that we’ll get there.

“We really want to raise general awareness about idiopathic pulmonary capillaritis, because it is so rare. Depending on who you talk to, there’s as few as 10 paediatric cases, or as many as 50 or so in the US right now. I think there’s 100 or so worldwide. But again, there’s no data on the disease, which is sad and scary.”

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