Dawn Laney, MS, CGC, CCRC, Assistant Professor and Director, Emory Genetic Clinical Trials Center
How far would you travel for the proper diagnosis?
One man uprooted his life and sought medical diagnosis in another countryafter learning that he might have Fabry disease fromhis own internet searches. Dawn Laney, assistant professor and director, Emory Genetic Clinical Trials Center recalls her experience with this particular patient.
Rare Disease Report®: What were your initial impressions of this case?
Laney: My initial impression of this case was to be impressed by the self-advocacy this patient showed as a young adult. The patient lived in South America and I was not aware of him prior to diagnosis. From his recollections, as ateenager, he recognized gradually that when he was playing soccer it was very hard to keep up with everybody else on the soccer field. Also, he’d get these horrible burning pains and nobody else seemed to have these pains. He couldn’t understand why he did, but then he noticed over time he wasn’t sweating like the other kids or young men on the team, and he put it together.
RDR®: He wasn’t sweating and he was experiencing hand and foot pain. Were there any pieces of clinical presentation that he had that maybe he just didn’t realize?
Laney: I think the biggest sign was his high level of fatigue and exercise intolerance. From his report of some other events of vertigo and visual disturbances, we may have also been having mini strokes in his 20s. The patient also had horrible pain crisis when he was ill, but he didn’t know that that was different than other people. He didn’t know that everybody doesn’t get extreme full body pain that is a “10 out of 10” on the pain scale when then have fevers. He also had some increased abdominal pain and alternating diarrhea and constipation that he blamed on certain foods. He would avoid categories of foods because he knew it made him sicker, but you know, your average person doesn’t have to do that.
RDR®: Discuss his first steps in trying to find a diagnosis.
Laney: He started with an on-line search for his most unusual symptoms. Something like, “Well, I’m not sweating and I’m having these pains and I’m trying to keep up with my friends, and it’s not working.” Then he reviewed search results for diseases that affect people where they don’t sweat,they have pain in their hands and feet, and they get heat exhaustion really easily. There were a bunch of different answers, ranging from multiple sclerosis to cancer or other unusual diseases that cause you not to sweat.. But then he saw Fabry disease.When he looked at the symptom list, he said, “I think I’ve got this.” He then looked online for a center of excellence to be evaluated and tested. He decided on a centerin the United States that could do the evaluation and testing., Once he earned enough money and worked with the center to get an appointment, he flew to the United States.
RDR®: How did he go about proceeding once he got to the United States?
Laney: The patient went through the evaluation process and they collected his blood. Several weeks later, the results returned. He was right, he had Fabry disease. To me that revealed his medical superpower: the ability to find a genetic cause for his underlying medical issues on the internet. He was then was empowered enough to gather the funds,leave the country, and find a center for evaluation and testing. Once he found that he had Fabry disease, they tested his mother and found that he is the first person in his family to have Fabry disease and has a new or de novo gene mutation causing his disease. He also decided to immigrate to the United States to work and find a center of excellent in Fabry disease to get the best treatment possible. He ended up in Atlanta, where I met him and have been the genetic counselor working with him at our Fabry center of excellence for many years.
RDR®: How far along in his diagnostic journey did you meet him?
Laney: The patient was already diagnosed when I met him. Additionally,e he had already done his research on therapy, moved to Atlanta, Georgia, and had started his career. , I was very impressed with him, his journey was an amazing story of patient empowerment.. I think it’s a great example of a motivated patient looking for some real answers and being empowered enough to do something with those answers when he got them.
RDR®: Did he have any family history of Fabry disease?
Laney: No, which is unusual in Fabry disease. Genetic testing in his family found that he’s a new mutation, so he’s the first person in his family. They tested his mom and she did not have the gene change. They tested his siblings and they did have the gene change. Even though men with Fabry disease do not pass Fabry to their sons as the GLA gene is on the X chromosome, just to be complete, theytested his dad. As expected, he did not have the gene change that causes Fabry either.
This was not surprising to the patient as his parents did not have any of the health issues he was having. They sweat and have normal tolerance for heat. However, it always important to double check with genetic testing before assuming someone doesn’t have Fabry disease when it is in their family.
RDR®: Once the diagnosis was made, was he put on enzyme replacement therapy immediately?
Laney: It was not immediate because first he had to immigrate to the United States, but it was fairly soon after diagnosis that he got therapy. When he started enzyme replacement therapy, and he responded pretty well and some of his symptoms began to improve. Unfortunately, he did end of having astroke in his 30. We know the enzyme doesn’t fully decrease therisk for strokes with Fabry disease. He recovered very well from the stroke and you wouldn’t know he had them if you met him.He also began taking a medication to decrease the burning pain in his hands and feet. Now, he is able to play soccer for full games and workout without pain. He says he is a new man compared to the teenager he was. . He’s married, he hasa child, he enjoys his work, and he’s doing really well. Even though Fabry is still impacting his life, he really feels like he’s done everything he could do to keep himself as healthy as possible.
RDR®: What is the likelihood that gene will be passed down to the child?
Laney: The patient had a son, so he does not have Fabry disease. The gene that causes Fabry disease (GLA) is on the X-chromosome. In order for a man to have a son, he passes down his “Y” chromosome instead of his “X-chromosome. Since that gene is not on the “Y” Fabry does notpass from a man to his son. There’s no male-to-male transmission. However,if he had a daughter, his daughter would have had Fabry disease. This is because his only option to create a daughter is to pass on the X that has the gene change that causes Fabry disease. The patient did not have a daughter, so did not have this occur. By having a son, he is still the only person in his family with Fabry diease. That would change ifhe chose to have other children. In most cases, youfind 5 family members affected with Fabry diseae for each individual diagnosed with Fabry disease (we call the first person diagnosed a proband). That means that when th first person in the family is found, then when we test their family members, we count at least 5 patients in the family with Fabry. So, his situation is very unique with Fabry disease.
RDR®: How frequently do you see him now?
Laney: I could see him every other week during his Fabry enzyme infusions; however, as he is infused later in the day, sometimes I miss him and he only sees the infusion nurse. However, we are in close contact and he lets the doctor and I know if there in anything changing with his health or he has questions in between in person visits.
RDR®: Was there anything else that you wanted to add?
Laney: I think that it’s important to emphasize that this a unique and exciting case. There’s a lot of misinformation about genetic conditions on the internet, but it’s a great example of somebody being able to searchthrough the things that aren’t realistic to get what he needed. Through his own initiative he was able to be diagnosed and get therapy as early as possible. The patient felt strongly about taking care of his health and altered his whole life to just make sure he was getting the care he felt he needed.