Quentin

Quentin is an 11 year old boy with a huge heart for supporting other children with aortic aneurysms. His many medical challenges during his first years of life included progressive aortic enlargement, for which he required valve-sparing aortic root replacement surgery at 8 years of age. After many years of not having a genetic diagnosis, the discovery that Quentin had Loeys-Dietz syndrome gave his physicians guidance about the urgent necessity of cardiac surgery.

Quentin's Story, as told by his mother Sheila.

Our story begins the evening of April 20, 1998 in Columbus, Ohio.  Quentin Paul Waid, was our third son and the doctors were sure that Quentin was healthy and would be going home with me from the hospital. Quentin entered the world and I was blessed to hold him for a few minutes before a concerned doctor took him away.  He had a very large bulge in his lower abdomen and was turning a very worrisome shade of blue.  Later, that night I was able to visit him in the NICU and this kind doctor approached me and proceeded to go over a list of things wrong with Quentin.  The list began with, extremely floppy, very long fingers, slanted this or that, transparent skin, blue sclera, split uvula, kyphosis, recessed chin, extra ribs and vertebrae, and on and on and on.  He proceeded to tell me that a genetic doctor would be in first thing in the morning to talk to us about a syndrome that he felt our son had.  We would also be talking with a surgeon to fix his bulge, which was a double inguinal hernia and a hole in his diaphragm. So we saw a geneticist and would continue to see a genetics doctor for the next 7 years until we would finally reach a diagnosis for Quentin.  
 
About the time Quentin was 5 years old, our cardiologist told us that his aortic root was too big and was continuing to grow despite the medicine he was taking.  He said it could rupture at anytime and it could be fatal, but that he could not do surgery to fix it – Quentin was too young.  I found this too be very hard to understand.  The fact that something was wrong with my son that could be fatal, but the doctors could not fix it!  The cardiologist continued to monitor Q with an echo every 3 months, but the news did not seem to get better.  The medicine the doctor was trying to treat him with made Q’s asthma worse and so we switched medicine finally, but the aortic root seemed to still grow.   

Quentin continued to enjoy being a kid and loving horseback riding, cooking, swimming, and watching his brothers play basketball, while mom tried to find a doctor who could give us the diagnosis that would answer our questions.  First grade and the beginning of second grade brought more surgeries:  spleenectomy, more hernias, and sinus surgeries.     Then came the appointment with the cardiologist again – telling me that he just didn’t know where else to send me with Quentin, and surgery was not an option at this point, but that yes, the aortic root could indeed rupture.  What kept going through my mind was that “Quentin could not be the only child out there with these symptoms!  It’s just that the doctor who knows what was wrong with him didn’t know we were here, living in Florida and that I MUST find that doctor who knows what’s going on because he or she will not know to find us!!”  I must have e-mailed 75 doctors around the country that day. Then came a voice at the other end of the telephone: “I’m Dr. Hal Dietz from Johns Hopkins and I believe I know what is wrong with your son.”  He proceeded to tell me about Loeys Dietz Syndrome and some of its characteristics.    

Genetic testing confirmed the diagnosis. Along with our team of physicians and knowledge about the risk of aortic dissection at young ages and small dimensions in Loeys-Dietz syndrome, Quentin underwent valve-sparing aortic root replacement in 2006. Although it was difficult being away from Florida friends and family while Quentin had surgery and was recovering in Baltimore, Quentin was a champ and made many friends in the hospital.

There are many additional challenges that come along with the diagnosis of Loeys-Dietz syndrome, including the risk of aneurysms and dissections in other parts of the aorta or arteries, however, we face Quentin’s medical issues as they come and as a team. The greatest gift of the diagnosis is that Quentin now has other kids to talk to who understand his experiences and frustrations too. I just love when he tells me he’s texting a friend he’s met with LDS or e-mailing a friend who he has met not just in another state but in another country.