A Heartfelt Plea from the TSSUS President
A few days ago, we received a call from a woman who was grieving the loss of her son’s new wife – her young daughter-in-law who suddenly passed away a few days before Christmas. She was only 26 years old.
She couldn’t understand why articles and information offered about aortic aneurysms and dissections associated with Turner syndrome (TS) make the condition sound so rare. Her family is grieving the loss of a wife, an aunt, a daughter/sister-in law and friend. She now believes that women with TS should not take the cardiac risks and their heart conditions associated with TS lightly, and shouldn’t assume the Mosaic form of TS is “mild”, and excludes one from the serious heart conditions that are associated with Turner syndrome.
The woman’s son and daughter-in-law were ready to start adding to their family and were approved for IVF by her local cardiologist not much more than a year ago. Having read up on TS and the heart, the woman pleaded with the couple to get a second opinion, which confirmed it would not be safe for her daughter-in-law to be pregnant. During a subsequent cardiac appointment in September, an enlarged aorta, the start of an aortic aneurysm, was discovered. They scheduled her for the first available surgery - in January.
Just weeks before the daughter-in-law’s heart surgery was to take place, her heart dissected, and she died almost instantly. No one knew how dangerous her condition was, apparently not even the prominent cardiologist who was treating her and had scheduled her surgery.
Unfortunately, the Turner Syndrome Society of the United States (TSSUS) was not aware of this young woman with TS – meaning we didn’t have her name and contact information on our list, or a way to send her emails, mailings, or communications. Alarmingly, many of the women with Turner syndrome who passed away from cardiac-related issues in 2018 were not in the TSSUS community.
Our goal is to reach everyone we can to serve as a reminder that their health care is critical, and to offer resources that may be helpful in managing care. Acknowledging TS should start with taking responsibility for learning about every aspect of how TS can affect health, and not handled with secrecy or denial. We cannot stress enough how important it is to follow the recommended tests and screenings schedule in the Clinical Practice Guidelines for the care of Girls and Women with Turner Syndrome (see links below).
We estimate that approximately 83% of women and girls with TS are not aware of or are not engaged with the TSSUS or the TS community. Sharing stories and information with others during Turner Syndrome Awareness Month in February through social media is important. It’s not about the number of people in our database; it’s about educating and empowering as many people as possible to prevent tragedies like this woman’s daughter-in-law from happening.
Last year, TSSUS became aware of 12 women with Turner syndrome who passed away from cardiac-related issues. Help your doctors and cardiologists stay aware of the latest TS information and ask questions, get second opinions, and consider yourself an equal partner in your health care. Tell doctors everything they need to know, even if they don’t ask. Do not assume or believe that all doctors are experts in Turner syndrome. (An informed TS patient or parent may know more than their doctor does about TS.) Be sure to share the Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome with all of your physicians and specialists, and make sure they are all communicating and working in coordination with your care.
TSSUS will be sending Cardiac Alert Cards to all members this Spring. Others will have the opportunity to order them for a small fee to cover postage, or pick one up at a Chasing Butterflies Walk, TS Days, the TSSUS National Turner Syndrome Conference, or a local TSSUS event.
If you are not receiving emails, e-newsletters, US mail, or other communications from the Turner Syndrome Society of the United States, we encourage you to join our mailing/email list.
Additional Resources
There are two versions of the Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome. The original, complete, 70-page version is ideal for physicians and includes dosing information for medications, along with all of the most up-to-date information available from the world's leading experts on TS. These Guidelines were updated at the Turner Resource Network International Symposium co-presented by TSSUS and TSGA immediately following the TSSUS National Conference in Cincinnati, Ohio in July 2016. It is available if a pdf download from the TSSUS website here:
Download the pdf full version of the Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome
There is also a patient and family 16-page summary version that is available in either a booklet format for a small fee, or in a pdf download.
Download the pdf of the patient and family friendly version of the Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome here
Order the printed booklet of the patient and family friendly version of the Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome here
Patient Guide to Turner Syndrome and the Heart
