{"id":210311,"date":"2024-02-29T07:06:03","date_gmt":"2024-02-29T12:06:03","guid":{"rendered":"https:\/\/today.uconn.edu\/?p=210311"},"modified":"2025-09-19T11:43:08","modified_gmt":"2025-09-19T15:43:08","slug":"rare-disease-day","status":"publish","type":"post","link":"https:\/\/today.uconn.edu\/2024\/02\/rare-disease-day\/","title":{"rendered":"UConn Health Marks Rare Disease Day"},"content":{"rendered":"
\"Rare
UConn Health’s campus buildings including UConn John Dempsey Hospital where Rafael had innovative surgery lit up to mark Rare Disease Week and also will on Rare Disease Day – February 29, 2024. (Tina Encarnacion\/UConn Health Photo)<\/figcaption><\/figure>\n

February 29 marks Rare Disease Day. In honor of the awareness day and the importance of breaking down barriers for the estimated 30 million Americans stricken with a rare condition, UConn Health shares the inspiring, decade-long journey of Rafael Azevedo of Brazil. He finally found hope and a cure for his severe pain in Connecticut, at the state\u2019s only public academic medical center.<\/p>\n

Azevedo had been suffering from neuralgia of multiple cranial nerves. The intense facial and ear pain he\u2019s been long battling is sadly known as \u201csuicidal disease.\u201d But a few months ago Azevedo had successful advanced brain surgery at UConn John Dempsey Hospital to finally bring him relief.<\/p>\n

This now very happy rare disease patient and his wife, Luana Diniz Tormin, say UConn Health and its doctors saved his life, and that their hearts are now full of hope.<\/p>\n

\u201cWe have been all over Brazil and the world to find a cure. The cure was here in Connecticut,\u201d says Tormin.<\/p>\n

His surgery on Dec. 1, 2023, was made possible first by the anesthesiology team at UConn Health. They gifted free anesthesia services to this rare disease patient while the patient\u2019s family was able to crowdfund the remaining costs to pay for his surgery and hospitalization.<\/p>\n

The anesthesia gift was critical for Azevedo\u2019s brain surgery to proceed and with UConn John Dempsey Hospital\u2019s surgical team\u2019s expertise, in its state-of-the-art operating rooms and with its powerful imaging capabilities including high-tech surgical microscope with augmented reality (AR) computer-generated digital imaging to visually assist surgeons during complex brain surgery.<\/p>\n

\"Dr.
Anesthesiologist Dr. Leonard E. Kulicki warmly holds hand with Rafael during his recent visit to the Outpatient Pavilion for a follow-up exam.<\/figcaption><\/figure>\n

His kind-hearted anesthesiologist at UConn Health was Dr. Leonard E. Kulicki from Integrated Anesthesia Associates.<\/p>\n

\u201cRafael\u2019s success story is very heartwarming and amazing,\u201d says Kulicki. \u201cWe are very proud and privileged to be part of Rafael\u2019s care. His case was very rare and challenging, but very fulfilling on many levels for our anesthesia team to have helped him.\u201d<\/p>\n

Kulicki adds: \u201cBrain surgery is very delicate, and we are grateful to be able to provide the best circumstances to allow his skilled surgeons to do their job and have the safest and best outcome.\u201d<\/p>\n

Thanks to anesthesia services, multidisciplinary teamwork, and the state-of-the art technology, surgeons performed microvascular nerve decompressions of the intermediate nerve and the glossopharyngeal nerve, along with the vagus nerve. In addition, a tympanic plexus neurectomy was performed to cure Azevedo\u2019s intractable pain syndrome.<\/p>\n

\u201cWe thought it was impossible to get to this day \u2013 but thanks to UConn Health we have done the impossible,\u201d says his wife. \u201cIt\u2019s been a successful journey.\u201d<\/p>\n

\"Anesthesia's
Anesthesia’s Dr. Leonard E. Kulicki and Surgeon Dr. Daniel Roberts with Rafael.<\/figcaption><\/figure>\n

For Azevedo, \u201cIt\u2019s a dream come true. I have the best doctors in the world.\u201d<\/p>\n

Azevedo came to Connecticut from Brazil for care at UConn Health in September 2023 right after visiting the United Nations to advocate for greater rare disease treatment options and funding for care. That\u2019s when in-depth planning began for this personalized, complicated brain surgery at UConn Health by Chief of Neurosurgery\u00a0Dr. Ketan Bulsara<\/a>\u00a0and ENT surgeon\u00a0Dr. Daniel Roberts,<\/a>\u00a0co-directors of the\u00a0Cranial Nerve and Brainstem Disorder Program<\/a>.<\/p>\n

\u201cWe are ecstatic for Rafael and his future,\u201d says his surgeon, Roberts. \u201cHis care was a special opportunity to be able to help someone with a very rare condition. It\u2019s what we do at UConn Health, we try to help.\u201d<\/p>\n

Azevedo learned about the surgical experience of Roberts and Bulsara through Brazilian neurosurgeon R\u00f4mulo Alberto Marques, a pain specialist at the Federal University of Goi\u00e1s, who found the research published on the internet by the two UConn Health doctors after months of in-depth study on Azevedo\u2019s rare case.<\/p>\n

\"Rafael
Rafael with his surgeon Dr. Ketan Bulsara, chief of Neurosurgery at UConn Health (UConn Health Photo\/Tina Encarnacion).<\/figcaption><\/figure>\n

\u201cAnyone who comes to UConn Health is given hope for a cure,\u201d says his neurosurgeon Bulsara. \u201cWe are very happy the pain syndrome that has afflicted Rafael for 10 years has resolved. He can now progress on with the rest of his life and reach his ambitions of becoming a pilot.\u201d<\/p>\n

\u201cMany doctors we saw believed that pain relief was not possible,\u201d says Azevedo\u2019s wife. \u201cHe now has moments where he does not feel pain in his right ear, and this had never happened before the surgery.\u201d<\/p>\n

Azevedo shares: \u201cBefore surgery, and for the last 10 years, no major pain-killer medication had any effect. I can now manage my pain. Just over-the-counter pain medicine can help me now.\u201d<\/p>\n

\"Dr.
Dr. Daniel Roberts examining Rafael’s ear.<\/figcaption><\/figure>\n

What\u2019s next for Azevedo?<\/p>\n

\u201cMy next step is pursuing my dream of becoming an airline pilot,\u201d says Azevedo, who also aims to help other rare disease patients like him too.<\/p>\n

\u201cOur work is based on the 2021 resolution in favor of rare diseases, launched by the UN. A fight so that this vulnerable population has access to swift diagnosis, effective treatment and that each individual can be reintegrated into society,\u201d says Tormin.<\/p>\n

Azevedo concludes: \u201cAfter all my suffering, I don\u2019t want to see others suffer, with no access to cures or doctors. It was hard for me and us. Most people in my condition commit suicide. I want to stop suicides from happening. I want to help take care of other people. I want to help people reach the treatment they need.\u201d<\/p>\n

Rafael shares that he will next undergo a more minimally invasive, unique procedure with Roberts to address his other ear. He says Roberts is the only doctor in the world with a published case study on the rare condition.<\/p>\n

Brazilian TV News Special:\u00a0<\/strong><\/p>\n