Patient Comments: Loeys-Dietz Syndrome - Experience

Question:

Please describe your experience with Loeys-Dietz syndrome. Submit Your Comment

Comment from: Simona, 25-34 Female (Patient) Published: September 25

No-one diagnosed me with Loeys-Dietz syndrome. I had to pay for genetic testing myself to be believed by my physician. Otherwise I was written off as just being hypermobile and that's it. Even after I brought genetic testing results, I was questioned why I went so far as getting them myself privately and I still have to fight for every single little test that I need.

Comment from: Kirsten, 65-74 Female (Patient) Published: March 19

My family for years had been diagnosed with Marfan syndrome. My mum, six siblings and 3 of their children have passed with an aortic rupture. I survived an aortic dissection in 2015 and follow up genetic testing showed Loeys-Dietz syndrome and not Marfan. I have dilated ascending and descending aorta and surgery has been recommended. Other complications I had/have are a detached retina in my right eye and tracheomalacia. Both symptoms are attributed to Loeys-Dietz.

Comment from: Luckytosurvive, 55-64 Female (Patient) Published: July 11

I have a connective tissue disorder with multiple symptoms but very late diagnosis, initially of Marfan syndrome, more recently of Ehlers-Danlos. I had a terrible history of medical neglect, even abuse through not being believed. My care is now infinitely better but too late to repair damage from delays and over 20 isolated surgeries. Lack of coordination remains a huge obstacle. A qualified specialist now suggests I may have Loeys-Dietz due to recently diagnosed aortic tortuosity and aneurysms.

Comment from: Kari, 25-34 Female (Patient) Published: May 01

I was diagnosed with Loeys-Dietz syndrome after taking a genetic blood test during pregnancy. I was previously diagnosed with Marfan syndrome. MRI showed a small aneurysm and I’m scheduled for stent surgery soon. My pregnancy and C-section went smoothly with no complications but with heavy supervision; however, I passed the gene to my child. He will get the proper care early on.

Comment from: Julie w, 45-54 Female (Patient) Published: April 24

In November 2016 I was rushed to hospital with chest pains, and it was discovered that I had a ruptured aorta. I underwent surgery to repair this but it was too damaged so I had a false aorta fitted. After tests were carried out it was discovered that I had Loeys-Dietz syndrome. I had never heard of this before but read up about it and whilst I don't have the physical appearance I do have a number of the other symptoms.

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