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WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.

However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.

Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.

WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.

However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.

Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.

WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.

However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.

Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.

WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.

Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.

“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.

WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.

Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.

“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.

WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.

Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.

“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.

Vidyard Video

Female sterilization is the most common method of contraception worldwide, and the second most common contraceptive method used in the United States. Approximately 643,000 sterilization procedures are performed annually.¹ Approximately 1% to 3% of women who undergo sterilization will subsequently undergo a sterilization reversal.² Although multiple variables have been identified, change in marital status is the most commonly cited reason for desiring a tubal reversal.^3,4 Tubal anastomosis can be a technically challenging surgical procedure when done by laparoscopy, especially given the microsurgical elements that are required. Several modifications, including limiting the number of sutures, have evolved as a result of its tedious nature.⁵ By leveraging 3D magnification, articulating instruments, and tremor filtration, it is only natural that robotic surgery has been applied to tubal anastomosis.

In this video, we review some background information surrounding a tubal reversal, followed by demonstration of a robotic interpretation of a 2-stitch anastomosis technique in a patient who successfully conceived and delivered.⁶ Overall robot-assisted laparoscopic tubal anastomosis is a feasible and safe option for women who desire reversal of surgical sterilization, with pregnancy and live-birth rates comparable to those observed when an open technique is utilized.⁷ I hope that you will find this video beneficial to your clinical practice.

Vidyard Video

Female sterilization is the most common method of contraception worldwide, and the second most common contraceptive method used in the United States. Approximately 643,000 sterilization procedures are performed annually.¹ Approximately 1% to 3% of women who undergo sterilization will subsequently undergo a sterilization reversal.² Although multiple variables have been identified, change in marital status is the most commonly cited reason for desiring a tubal reversal.^3,4 Tubal anastomosis can be a technically challenging surgical procedure when done by laparoscopy, especially given the microsurgical elements that are required. Several modifications, including limiting the number of sutures, have evolved as a result of its tedious nature.⁵ By leveraging 3D magnification, articulating instruments, and tremor filtration, it is only natural that robotic surgery has been applied to tubal anastomosis.

In this video, we review some background information surrounding a tubal reversal, followed by demonstration of a robotic interpretation of a 2-stitch anastomosis technique in a patient who successfully conceived and delivered.⁶ Overall robot-assisted laparoscopic tubal anastomosis is a feasible and safe option for women who desire reversal of surgical sterilization, with pregnancy and live-birth rates comparable to those observed when an open technique is utilized.⁷ I hope that you will find this video beneficial to your clinical practice.

Vidyard Video

Female sterilization is the most common method of contraception worldwide, and the second most common contraceptive method used in the United States. Approximately 643,000 sterilization procedures are performed annually.¹ Approximately 1% to 3% of women who undergo sterilization will subsequently undergo a sterilization reversal.² Although multiple variables have been identified, change in marital status is the most commonly cited reason for desiring a tubal reversal.^3,4 Tubal anastomosis can be a technically challenging surgical procedure when done by laparoscopy, especially given the microsurgical elements that are required. Several modifications, including limiting the number of sutures, have evolved as a result of its tedious nature.⁵ By leveraging 3D magnification, articulating instruments, and tremor filtration, it is only natural that robotic surgery has been applied to tubal anastomosis.

In this video, we review some background information surrounding a tubal reversal, followed by demonstration of a robotic interpretation of a 2-stitch anastomosis technique in a patient who successfully conceived and delivered.⁶ Overall robot-assisted laparoscopic tubal anastomosis is a feasible and safe option for women who desire reversal of surgical sterilization, with pregnancy and live-birth rates comparable to those observed when an open technique is utilized.⁷ I hope that you will find this video beneficial to your clinical practice.