Loeys-Dietz Day 2015 at SickKids Toronto - January 15, 2015

Looking back on an unforgettable day.

Article by Johane Gauther Galli and Alexander Galli

In January 2005, a paper was published in the Nature Genetics journal about a new connective tissue disorder.  Ten years later, the future is much brighter than it was when the paper first came out, and many advances continue to be made in what we now know as Loeys-Dietz syndrome.  And ten years after that first article, the first Canadian Loeys-Dietz Day for patients, families, and medical professionals was held on January 15th at SickKids Hospital in Toronto, ON.  LDSF-Canada volunteers Alex Galli and Johane Gauthier Galli posted live from this event on our Facebook page.  Read on for a summary of this successful day!

The day began as Dr. Hal Dietz, chair of the Medical Advisory Committee, led a Grand Rounds session on Loeys-Dietz syndrome for the medical professionals in attendance.  

After enjoying breakfast and a chance to mingle, patients and their families met medical professionals in the Daniels Hollywood Lecture Theatre for Dr. Sarah Bowdin’s (Medical Advisory Committee member) introductory presentation on Loeys-Dietz syndrome (LDS).

Photo: Ella Burakowski Cohen

Following this introduction, Dr. Hal Dietz presented various updates on Loeys-Dietz, stressing the importance of education, and early and correct diagnosis.

Genetic counsellor Gretchen Oswald MacCarrick followed, giving an overview of allergic issues in Loeys-Dietz syndrome.  Statistics from Dr. Anthony Guerrerio (gastroenterology, Johns-Hopkins) and Dr. Pamela Guerrerio (allergy and immunology, Johns-Hopkins) reveal people with LDS are more likely to suffer from allergic disease than the general population.  LDS is associated with allergic disease and eosinophilic gastrointestinal disease.

Next up was Dr. Peggy Marcon, gastroenterologist, who talked about gastroenterology and nutrition issues. 30% of LDS patients seen at Johns-Hopkins suffer from oesinophilic esophagitis.

Dr. Ronni Cohn, geneticist, then presented on neuromuscular problems related to LDS. Though low muscle tone appears to be common in many Loeys-Dietz syndrome patients, he also said that in the patient population he has followed, muscle tone seemed to have improved as patients got older.

Dr. Christopher Forrest, plastic surgeon, presented on craniofacial features, issues, and surgery in LDS patients.  Craniosynostosis (early fusion of the skull bones) can impede proper development of the brain.

Dr. Maral Ouzounian, cardiovascular surgeon, informed the participants on cardiovascular surgery. She talked about the lower surgical thresholds for LDS patients compared to other connective tissue patients, and how prophylactic surgery is preferred to emergency surgery.  Personalized decision-making is key: the risks of aortic complications have to be weighed against the risks of surgery.  Dr. Ouzounian also talked about the different types of aortic dissections.

Just before breaking for lunch, Ms. Julie Hardie courageously presented her family’s LDS story.  This meeting would not have been possible without their generous donations, and was dedicated to her late husband’s memory, Jeremy Hardie, who passed away from LDS-related complications. 

Lunchtime provided the opportunity to catch up with old and new friends, whilst enjoying a truly delicious meal!

Following lunch, participants were invited to Q&A sessions.  How lucky we were to ask leading experts our questions on LDS!  The sessions were on: Dealing with diagnosis and genetics; Craniofacial, neuromuscular and exercise; Diet and allergies; Cardiovascular Care and Surgery.

Photo: Ella Burakowski Cohen

Finally, it was back to the Daniels Hollywood Lecture Theatre, where Dr. Timothy Bradley, cardiologist, told conference attendees about cardiovascular care, and highlighted the importance of proper imaging.  Dr. Bradley and Dr. Sarah Bowdin are responsible for putting this meeting together!

To wrap up the day, LDSF-Canada president Joseph Galli gave everyone an update on the Foundation, talking about its past, present and future.  The LDSF-Canada is there to support you, and is counting on you to get involved!

Photo: Ella Burakowski Cohen

What a day! For some, it was the first time connecting with other LDS patients. All medical professionals shared such important information!  It was clear, to the point, and very well supported by meaningful PowerPoint presentations. 

Special thanks to all the presenters for sharing their knowledge and for caring so much!  It has greatly helped patients in Connecting the dots™! Thank you to all participants, each of you has contributed to making this first Canadian Loeys-Dietz Day a success!

Memorable Quotes

“It is so cool to meet other kids like me, affected by LDS!” – Milan

“It was an amazing day. Loved meeting everyone and being able to put faces to some of the names.  All the speakers were fascinating.  Thank you to all who participated and made this day possible.” – Ella

“Amazing presentations by all the doctors and staff. Great group discussions and knowledge gained. Thanks.” – Marshall

"The prospect moving forward is tremendously bright. People are seen early, they get proper imaging, surgeons are keyed in. The future is bright right now, and it will only get better as research progresses in the next few years." - Dr. Hal Dietz on the future of Loeys-Dietz syndrome

“ More and more, I get emails from doctors that say, ‘I saw [enter LDS feature or genotype here], and on this basis performed [enter LDS-specific diagnostic test here], and Thank God found [enter serious AND actionable LDS feature here].’” - Dr. Hal Dietz on the impact of education

“Eosinophilic disease is eight times more common in connective tissue disorder patients, so we should have a low threshold to look for this.” – Dr. Peggy Marcon on diagnosing Eosinophilic disease

“From my experience, there is a difference between muscle tone and strength.” - From Dr. Ronni Cohn’s lecture

“One point I would make is that you all are or will become experts on Loeys-Dietz syndrome.  When you present your story to doctors, you have to be a strong advocate for yourselves; you’re not average, you’re special.  They need to get that message.  Everything that’s ok for the average population would not necessarily be beneficial, or even ok, for someone with LDS.”  – Dr. Hal Dietz, on taking charge of one’s diagnosis

“The important thing when doing physical activity is that you can breathe properly without being out of breath.” - Dr. Tim Bradley on physical activity and LDS

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