Expert Insights

Expert Insights

Rare Disease: It Affects Families Everywhere

Rare Disease: It Affects Families Everywhere
27 February 2019

By Lisa Dilworth, VP Rare & Orphan Disease

You would think we would be better prepared for a rare disease diagnosis in the family since we grew up watching our mom suffer from a rare disease called Myasthenia Gravis. But when my sister, Shannon Harvey, called to tell me she was pregnant and making me an Aunt again- rare diseases were the furthest thing from my mind.

When Shannon was 8 weeks pregnant she found out that she was carrying twins and yet another celebration ensued! By 21 weeks the pregnancy was going well and I had 2 little nephews on the way- Jaxx and Bentley! But suddenly things took a terrifying turn when Shannon began experiencing sharp pains at 22 weeks. Her doctor saw a few troubling signs- especially around the amniotic fluid levels- so she was referred to a specialist who immediately upon examining Shannon was recommending she consent for surgery to save her boys. We were told they had something called chronic twin to twin transfusion syndrome. Like many people, we all turned to the internet to learn about this rare syndrome we had never heard of before that moment.

At 22 weeks pregnant, Shannon went into surgery and despite the surgery she went into labor at 23 weeks. She would spend the remainder of her pregnancy on mandatory bed rest in the hospital despite having a toddler at home who missed his mommy. It was heartbreaking for Shannon to be away for her first born, Cody, but Shannon was determined to do everything to give her boys a chance at this beautiful life. The twins turned out to be brave and defiant fighters just like their mom and at 35 weeks, they were delivered via C-section. The twins may have been prematurely born and tiny but after several weeks in the hospital they were given a clean bill of health and able to come home!

Shannon, her husband Steve, and he entire family are now fierce advocates for Twin to Twin Transfusion Syndrome awareness. Shannon having worked in the CRO space previously, has an intimate connection to research and has enrolled in the Twin to Twin Transfusion Syndrome Foundation’s International Registry which has been collecting data since 1995 to help further the treatment and understanding of this disease. She also participated in the TTTS Placental Protocol which is a consortium comprised of expert pathologists and other medical professionals who are committed to the correct analysis of placentas required to further much needed research.

It is estimated that there are about 4,500 TTTS cases per year in the US. The disease is still poorly understood and under-researched but we found great information through the physician, his incredible nurses and also the Twin to Twin Transfusion Syndrome Foundation.

In twin-to-twin transfusion syndrome, identical twins share a placenta via abnormal blood vessel connections.

As a result of the abnormal vessel connections, blood flows unevenly between the babies. One twin- called the donor- becomes dehydrated and fails to grow while the other twin- referred to as the recipient- will produce too much urine and flood the amniotic sac. The recipient twin’s heart is strained by the excess fluid sometimes resulting in heart failure. Without treatment, the condition is fatal for both twins 90% of the time. If just one of the twins survives, that twin is at significant risk as a result of inadequate blood flow and oxygen supply and will likely be born handicapped.

For more information on twin to twin transfusion syndrome, please visit www.tttsfoundation.org

x

Submit RFI / RFP

By submitting your information to us through this webform, your business details will be added to our database. In accordance with our Privacy Notice, we may then contact you with marketing information about Synteract that might be of interest to you. We will never sell your details to third parties. You can unsubscribe from marketing communications at any time.

Required

x

Contact Synteract

Tell us how to stay in touch with you:

By submitting your information to us through this webform, your business details will be added to our database. In accordance with our Privacy Notice, we may then contact you with marketing information about Synteract that might be of interest to you. We will never sell your details to third parties. You can unsubscribe from marketing communications at any time.

Required

x

 

x

Download Resource

By submitting your information to us through this webform, your business details will be added to our database. In accordance with our Privacy Notice, we may then contact you with marketing information about Synteract that might be of interest to you. We will never sell your details to third parties. You can unsubscribe from marketing communications at any time.

*Required

x

To complete your download, please choose an option in the Internet Explorer pop-up window at the bottom of this browser.

x

Opt In

By submitting your information to us through this webform, your business details will be added to our database. In accordance with our Privacy Notice, we may then contact you with marketing information about Synteract that might be of interest to you. We will never sell your details to third parties. You can unsubscribe from marketing communications at any time.

*Required