Alex's story is a common one told by parents of children with genetic disorders. It took years of treating a variety of seemingly unrelated medical issues, all the while raising questions to the revolving door of specialists and experts, before finally arriving at the diagnosis-- Loeys-Dietz syndrome-- that would change their world forever, but would finally empower them with information they would need to seek out proper treatment.
Here is Alex's Story as told by his mother, Beth.
At age five, it was confirmed through genetic testing that Alex had Loeys-Dietz syndrome. The year was 2006; just months after Dr. Hal Dietz and Dr. Bart Loeys described this new connective tissue disorder. The diagnosis was bittersweet, and I still describe it to families learning of the syndrome as such, because at the time, we wanted so badly to know what the underlying cause of so many things “gone wrong” with Alex’s health was. Yet, feared the “unkown,” what the Loeys-Dietz diagnosis really meant; if we were ready to face the challenges, and even more, watch our son live with them.
Alex was born seemingly healthy. He weighed 9 pounds 8 ½ oz. He seemed very flexible and “floppy.” He had a recessive and small chin, to which my husband, a dentist, referred to as “micrognathia” and “retrognathia.” He noted that he would probably require jaw surgery like my father had. Alex had long fingers. He had trouble nursing. We took several trips to several different pediatric orthopedic surgeons, who continued to reassure us that his turned in feet and “floppy” features would correct, and that if I still remained discontent, to return. Alex developed fairly normal, but was late in sitting up, walking, and even talking. He required speech therapy and also had nummular eczema.
At the age of four, Alex developed an inguinal hernia. I immediately began to research online ‘hernias in children’ and came across many different syndromes and disorders linked to hernias. I was consumed with finding information online and was seeking desperately to find the missing piece. In a visit to the orthodontist, she and my husband discussed Pierre Robin Sequence, which are a series of characteristics, including wide-spaced sunken eyes, retro and micrognathia, and is linked to many different syndromes. Nothing more was really explored with that, though I still had that piece in the back of my mind. I was reminded that I too have big eyes. Again, excuses, fixes, excuses.
Fast forward to 2005, Alex was scheduled for his first inguinal hernia surgery. The doctor checking him before his surgery said “He has Pierre Robin Syndrome?” I had a lump in my throat. I was about to send my baby into surgery, and for the first time, a medical professional had mentioned out loud a recognized difference; someone besides myself, husband, or friend. I was again reassured that there was nothing to worry about. Hernias in children did occur without a “syndrome” I was told.
The inguinal hernia repair failed. I immediately began to search the Web, including the words “children” and “recurring hernias.” Many connective tissue disorders appeared, including Shprintzen Goldberg, Ehlers Danlos, and Marfan Syndrome. I began to print these off and shared them with my husband. He couldn’t understand why I needed a label. He thought that we could continue to “fix” what went “wrong.” I began to list the many reasons, most importantly, possible heart problems, which was my concern when Alex went in for his hernia repair.
Around the same time of the hernia recurring, Alex was being reevaluated for speech at a local university. I expressed my concerns for reevaluating at a different facility, and that I felt there was more to Alex, and I just couldn’t seem to find answers. There were all these pieces that, together, still didn’t make sense. At the conclusion of the evaluation, they recommended Alex see a craniofacial specialist. I felt as though I had been hit in the stomach, though for the first time, there it was in black and white. I went home and discussed the results with my husband and encouraged him to speak with our family physician about seeing a geneticist.
Finally my husband and I were on the same page. Within weeks we were able to get into the geneticist. After listening to his heart, they discovered a heart murmur. I felt I was slowly melting into my chair. Exactly what I had feared in all the research I had done was beginning to unfold before my very eyes. What little bit of information I had found on the various connective tissue disorders, I knew that this was only the beginning. My husband tried reassuring me that many people have heart murmurs, and perhaps it was nothing. Then, the geneticist extensively measured his arm span, his long and skinny fingers, his head, and wide-spaced eyes. He looked at his velvety skin, his spine, and his scars from his hernias. He looked at his flat feet, and his long, skinny toes. When I thought that evaluating was over, he began to look at myself and my husband. This was so difficult. The most difficult part; we had four other children at home. Were they going to have to be evaluated as well? What did this diagnosis, whatever it was to be, really going to mean for our family?
Since a heart murmur was detected, an echocardiogram was ordered. I called two days after the test to find out who would be calling me to follow up with results. The receptionist set a date for us to come in to discuss the results, but as we talked, the geneticist requested to speak with me. He had the results of the echocardiogram and wanted to talk with me. They found an enlarged aorta, and many measurements of his heart were beyond normal limits. We were scheduled to see a cardiologist and the geneticist again.
The cardiologist said that we were treating Alex as though he had Marfan syndrome, and immediately put him on Atenelol, a beta-blocker. He said that when/if he required surgery to remove the aneurysm, he would be referred to Johns Hopkins. We then saw the geneticist that was going to test for Marfan 1 and Marfan 2 as it was referred to at the time.
One month later we received a call from the genetic counselor that Alex had the gene change for Loeys-Dietz syndrome. I asked how this would change our treatment options. She said, “It won’t. We will treat it as though he has Marfan Syndrome.” What little information I did find, I knew that Loeys-Dietz syndrome was much more aggressive, and most importantly, aortic aneurysms were being found to dissect at smaller dimensions than in people with Marfan syndrome. I knew we had to be in touch with Dr. Dietz, whose directory page on the Johns Hopkins site was the home of several small paragraphs pertaining to this new disorder called Loeys-Dietz.
My husband and I began to draft an email to Dr. Dietz. After finding his phone number online, I showed it to my husband, and he said, “Give it to me!” He dialed the phone, and after speaking just moments to the secretary, soon found that he was talking to Dr. Dietz. He explained that he was booked 8 months out, but that he would see us as soon as we could get there. He recommended full body (head to pelvis) CT imaging and an echocardiogram be performed. He said to schedule with his genetic counselor, Gretchen, and within weeks we were in Dr. Dietz’s office. Just one month after that, Alex had valve-sparing aortic root replacement to remove the aneurysm in his aorta that was greater than 3 times the standard deviation.
Alex continues to have yearly CT scans and/or angiograms, as well as echocardiograms to monitor not only his heart health, but to identify/assess other aneurysms. He has also had other hernia repairs, and allergy issues including eczema.
I, my husband, and our five girls have tested negative for the mutation, and Alex’s mutation/gene change is considered to be a sporadic mutation. Shortly after, I started the Loeys-Dietz Syndrome Foundation, with genetic counselor, Gretchen Oswald, to promote awareness for Loeys-Dietz syndrome, provide education and research opportunities for LDS. I continue to be encouraged by the growing number of families that are impacted from LDS, and look to them, as well as Alex for strength and courage.
I am continued to be amazed by the good in so many people. The LDSF has collaborated on events and projects with the National Marfan Foundation, and looks forward to similar relationships with other connective tissue disorder organizations, and other organizations, including those involved with the TAD Coalition, to continue to raise awareness, education, and research for preventing thoracic aortic aneurysms.
Together, we can take heart, encourage education, foster research, and provide support.