In 2014, I introduced my 10-year-old son, Ian, to the neuromuscular clinic at Cincinnati Children’s. We had been noticing for fairly a while that he had restricted muscle flexibility and points along with his speech. Initially, we thought he simply had tight muscle tissues and wanted to be extra energetic to maneuver round and stretch extra.
Over the subsequent couple of months, the clinic ran a number of exams, finally arriving on the conclusion that, whereas they did agree our son had a well being situation, they couldn’t pinpoint what it was.
Over the subsequent 5 years, alone, I attempted completely different methods that I believed would assist him, together with stretching classes with a private coach, yoga lessons and speech remedy. While a number of the actions helped for some time, the consequences by no means lasted.
MEETING WITH GENETIC COUNSELING
Finally, in August 2019, we went again to Ian’s major care physician and requested one other analysis at Cincinnati Children’s. While our appointment was scheduled with the neurologist, it was a genetic counselor named Chinmayee who met with us first. From that second on, she has held our fingers all through this complete course of, offering the empathy and compassion you want while you’re searching for a analysis to your youngster.
She instructed us that Ian would want genetic testing and punctiliously walked us by the steps concerned, together with telling us what they’d be searching for after they examined him for lots of of muscular genetic mutations.
A few months after the check, Chinmayee known as to elucidate the preliminary findings, which pointed towards a neuromuscular illness often called Emery-Dreifuss muscular dystrophy. However, the findings (the variant classification) got here again as unsure and weren’t conclusive.
RECEIVING A DIAGNOSIS
To additional dig into this analysis and discover a conclusive consequence, Chinmayee and our neurologist really helpful extra testing. This time with my son’s frozen muscle biopsy taken again in 2014. They wished to look at his RNA sequencing to see if they may discover a extra definitive analysis. This check is delicate, required two or three samples, and a number of coordination from Chinmayee earlier than it was efficiently carried out.
Finally, we had what we had been searching for—a solution. The RNA sequencing got here again as optimistic, and the variant classification was up to date to seemingly pathogenic. My son Ian, now 19, has a really uncommon sort of Emery-Dreifuss muscular dystrophy: FHL1 with deletion of Exon 7.
I’m the kind of one that will do no matter I can to get a solution. I wanted to know my son’s situation in order that I may be taught extra about it and his prognosis. Thanks to Chinmayee, having a solution gave me a way of reduction and a path ahead in coping with his situation.
HAVING A DIAGNOSIS LED TO MORE SPECIALIZED CARE
As quickly as Ian was identified in August 2019, he was instantly positioned within the care of a crew of specialists at Cincinnati Children’s. This contains cardiology, pulmonary, orthopaedic, ENT and different departments.
Not solely does Emery-Dreifuss have an effect on muscle tissues used for actions and respiratory, however its high situation is cardiac issues. This can result in problems, together with cardiac arrest. Ian has additionally been identified with hypertrophic cardiomyopathy, and each six months the cardiologists run exams to watch his coronary heart perform. They have additionally really helpful that he keep away from strenuous actions and extended publicity to warmth. He can be inspired to maintain hydrated.
TESTING OTHER FAMILY MEMBERS
Although Ian now had a analysis, my journey with Chinmayee didn’t cease there. Since Emery-Dreifuss is an X-linked inherited situation, she urged that my 4 sisters, their kids, and me, even be examined for the mutation.
This is a handful to maintain monitor of, however Chinmayee and I are cataloging the findings as every member of the family will get examined. I’ve the situation, and we’re discovering that it’s pretty prevalent with my different relations, too. To say the least, Chinmayee is aware of so much about my household, and it’s an enormous household at that.
In addition, she and Ian’s neurologist are engaged on a paper to be revealed in a scientific journal and can share their findings about my son’s situation at a number of upcoming scientific conferences. Their efforts will assist carry consideration to this uncommon illness in hopes that different households can keep away from the lengthy sequence of occasions we endured to get our analysis.
BECOMING EXTENDED FAMILY
Since our first assembly, Chinmayee has all the time been extraordinarily responsive, answering my cellphone calls with questions similar day. She goes out of her approach to discuss non-medical points, asking how Ian is doing in on a regular basis actions, how Tim, Ian’s Dad and our different son are coping, and the way I’m doing.
This is an enormous analysis for fogeys, and she’s going to typically ask me what I’m doing to deal with myself. She typically ends our cellphone calls by telling me that I’m an excellent mom and that she is impressed with all the things I do for Ian. These phrases of encouragement assist me maintain going. Chinmayee has turn into greater than our genetic counselor—she’s turn into our prolonged household.