My name is Hélène, I am 45 years old, and my husband and I have 3 children.
After over 20 years of doctors telling me not to worry about having Marfan syndrome, my son and I were diagnosed with Loeys-Dietz syndrome (LDS) type 2.
Here is my story – of misdiagnosis, my hunch that something was not quite right, advocating for my children, and our testing, diagnosis and life with Loeys-Dietz syndrome.
Diagnosis and Misdiagnosis
When I lost my mom in 1984, we were told about Marfan syndrome. My brother, age 10, and I, age 8, had to have a heart ultrasound. My brother was immediately diagnosed with Marfan syndrome as he had a dilated aorta, long limbs, orthopedic problems and an inverted pectus. Meanwhile, for me, everything was normal; I had no health problems. Unfortunately, my brother died in 2001 from an aortic dissection (his aorta was dilated to 5.5 cm), just 15 days before his scheduled preventative heart surgery.
My Children, Mysterious Symptoms, and a Hunch
At the time, I had no symptoms and all the geneticists, cardiologists and other doctors told me that there was nothing wrong and that I should not worry about having Marfan syndrome. So, I went into motherhood with peace of mind. I had 3 wonderful children by vaginal delivery without epidural. When my son, Jules, was born in 2006, I immediately had a feeling that something was wrong. He had a crooked (clubbed) foot and was in intensive care 2 days after his birth because he had not passed his meconium.
When I met with doctors for my children or myself, I always made it clear that Marfan Syndrome ran in our family but that other doctors had been telling us there was nothing wrong my children or myself.
Advocating for my Children
The feeling that something was not medically right with my son never went away. I saw that Jules developed symptoms such as hyperlaxity, long limbs and an inverted pectus. When I told the doctors about my concerns, they always told me it had nothing to do with Marfan!
Finally, I insisted that he have a heart scan. Unfortunately, my hunch proved to be right; Jules’ aorta was dilated. That was one of the worst days of my life.
Genetic and Medical Tests
After finding out about Jules’ aorta, he and I had to undergo many genetic and medical tests for Marfan syndrome and related conditions. That’s when we met Dr. Gaertner, a specialist in Marfan syndrome and similar conditions. He has been and still is a great support to our family; I thank him from the bottom of my heart. Dr. Gaertner was able to guide us through this ordeal while giving us confidence in the future. He was the first one to tell us about Loeys-Dietz syndrome.
While waiting for our genetic results, which took almost a year to come back, all my tests were good – no heart dilation, no orthopedic problems, no inverted pectus. I was left with one last test, which Dr. Gaertner ordered: a brain MRI. That’s when we discovered a brain aneurysm behind my right eye. The aneurysm was 7 millimeters and was not ruptured, but was definitely present. In December 2020, I had the aneurysm embolized, and, unfortunately, lost my sight on my right side.
Diagnosis and Living with Loeys-Dietz Syndrome
In late 2020, we received confirmation that Jules and I have Loeys-Dietz syndrome (LDS). Recently, we also learned that my two daughters do not have LDS.
I can say that this news has changed our lives. Of course, it is more difficult; we have exercise restrictions, we will be taking beta blockers for the rest of our lives, and we are closely monitored by our doctors. As Jules’ parents, it’s hard for us. We have this constant worry for him, his present, and his future.
But, if all these trials have taught us anything, it is that we must have faith in life. We all pick ourselves up and face this trial that life has given us. We are happy, despite or because of this illness. Yes, life is full of pitfalls, but together we can face it, enjoy it, and be happy.
I would like to finish by saying thank you to my husband, who has been a constant support during all these trials. I also sincerely thank Dr. Gaertner, and am thinking of all of you suffering from Loeys-Dietz syndrome and other rare diseases.
The Loeys-Dietz Syndrome Foundation of Canada
Here in France, I feel a bit alone as we don’t have an organization specific to Loeys-Dietz syndrome. I am therefore happy to have been able to join the Canadian organization, the Loeys-Dietz Syndrome Foundation of Canada.
I contacted the Foundation to participate in their discussion groups and meet other people with LDS. With a rare disease, it is important to have access to community, support and resources.
If you have any questions or are looking for support, please call the Foundation at 1-888-LDS-FCAN.