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The Mysteries of ROHHAD: With Pediatric Endocrinologist David Cooke

The Mysteries of ROHHAD: With Pediatric Endocrinologist David Cooke

David W. Cooke

Pediatric endocrinologist David W. Cooke

Pediatric endocrinologist David W. Cooke was the attending physician on a Hopkins Children’s ward when 3-year-old Haven Fowler arrived with her parents in 2007. The child’s constellation of conditions, from rapid weight gain to seizures, had long baffled physicians elsewhere, and were leading to her steady deterioration. What happened next is the topic of an episode of "Mystery Diagnosis,” to air Wednesday, Jan. 12, 8 p.m., on the new Oprah Winfrey Network (OWN).

Q: How were you involved in the Mystery Diagnosis production?

Cooke: I was filmed for parts of the re-enactment at Johns Hopkins – in a treatment room, walking down a hall, and talking with Haven’s parents in my office. I also answered questions about the case, which the family had originally brought to the producers’ attention.

Q: Why was Johns Hopkins the right place for this child and others with rare disorders?

Cooke: There is simply a collection of great minds here, of individuals with extensive training, expertise in multiple disciplines and experience in piecing together highly complex medical puzzles. Having said this, Haven’s diagnosis came about very serendipitously. (link to Case Conference article) I first saw her as a general pediatrician. There was no expectation that she had an underlying endocrine disorder. Some of the testing to understand what was going on with her was done on the recommendations of consultations with pulmonology, neurology and genetics. Curiously, as is often the case when examining a complex constellation of symptoms, in looking for one thing we found something else. A tumor. A very astute oncology fellow reviewed the oncology literature and found an association between a neuroblastoma and a rare degenerative disorder. Then at one of our weekly pediatric endocrinology conferences, another fellow reported the case of a child who, months earlier, had shared Haven’s symptoms and been diagnosed with Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) syndrome. I felt we had our diagnosis for Haven.

Q: What is ROHHAD Syndrome?

Cooke: It is a rare disorder that manifests itself by abnormalities in breathing, the endocrine system and the autonomic nervous system.

Q: What causes ROHHAD?

Cooke: We don’t know for sure. ROHHAD simply describes a collection of features, which could represent different things in different people. Most children with this syndrome have a neural crest tumor known as a ganglioneublastoma. A prevailing theory is that an autoimmunity related to this type of tumor sets up other aspects of this disease. Some children with ROHHAD do not have a tumor, but this may be because the this type of tumor can go away on its own, and perhaps in them it already has.

Q: How is ROHHAD treated?

Cooke: While the autoimmune aspect of ROHHAD is still speculative, immunotherapy has, to a very limited degree, helped some patients. Pediatric oncologists here at Johns Hopkins devised a completely novel therapy for Haven, however, usinghigh-dose of cyclosphosphamide. We saw a real remission of her symptoms, allowing her to return to school. Oncologists Ido Paz-Priel and Allen R. Chen, M.D., and I wrote a paper about this therapy in the August 2010 issue of The Journal of Pediatrics.

Q. What lead to the design of the novel treatment here?

Cooke: Oncologist Paz-Priel, who was the paper’s lead author, pursued immunomodulatory therapy in Haven with the thinking that ROHHAD is potentially analogous to another disorder related to a tumor similar to Haven’s. These initial immunomodulatory therapies showed some benefit in Haven, consistent with an autoimmune component to the problems she was having. The initial responses were transient, however, so we tried another approach for a more lasting response. High-dose cyclophosphamide is proposed to reboot the immune system, often providing more long-lasting responses in patients with severe autoimmune disorders. We used this treatment in Haven and saw a significant decrease in her symptoms. We continue to follow her, and have thus far not seen a relapse of her symptoms.

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