At Chase’s follow-up appointment where we met with Dr. Rinaldi and everyone in his team, the genetic counselor talked about the specifics of a genetic disease. Becker’s Muscular Dystrophy, as mentioned prior, is an X-linked disease. At this point, there was a 1/3 chance that Chase just had a random mutation within his individual DNA that caused this, the other 2/3 chance was that I was the carrier of this mutated X and I passed it on to him. There were a couple reasons why they wanted to pursue testing me to find out if I’m a carrier. First of all, while carriers don’t necessarily display symptoms of the disease because women have two X’s and our second X can make up for the deletions on the mutated X, however, carriers ARE at an increased risk of cardiomyopothy. If I am indeed a carrier, I will need to follow-up with a cardiologist. Second, if I am a carrier, Roman has a 50% of having BMD as well. After taking this all in, we decided to pursue testing of me, and preliminary testing of Roman. Even if I did NOT turn out to be a carrier, Roman still had about a 10% chance of having BMD and we just wanted that peace of mind. As I am writing this, we have not received word yet whether I am a carrier or not.

Dr. Rinaldi decided to start with having our pediatrician order a CK serum blood test on Roman. He stated that if that came back within normal range, meaning there was no evidence of muscle deterioration, than there was no need to follow-up and it would be determined that he did not have BMD. If it did come back elevated, well, we would take it from there.

Those of you who I talked to about this probably remember me saying I had no concerns about Roman. He had exhibited no symptoms, and has always been physically completely different than Chase. He met all of his developmental milestones on time, if not a little early, and has been a spitfire from day one. This testing was just going to be for our peace of mind.

I got the phone call from our pediatrician’s office the day after I took Roman in for his blood draw. I did not expect the results to be back already, let alone what they told me about the results. The care coordinator from our pediatricians office told me that Roman’s CK serum was indeed elevated. His levels were 1700 (again, normal is somewhere 100-300), which weren’t as high as Chase’s (the next time they checked Chase’s, it had reached over 4,000), but high enough to be significantly abnormal, showing that he too was experiencing muscle deterioration/breakdown. She told me that the genetic counselor and Dr. Rinaldi at Children’s Mercy were expecting my phone call to get Roman setup for an appointment in their clinic. I got this call in my car in the Walmart parking lot. I don’t know why I keep getting these calls in my car, but I vow to quit answering my phone in the car from now on. My next step was to drive home and tell my husband. We had just started wrapping our brains and hearts around Chase’s diagnosis, and were in a pretty good place about it. We were working hard on trying to focus on the here and now, and trying not to stress about the future. Now hearing that our 3 year old has this condition too……….I think we were both numb for days following.

When I got home I called our genetic counselor at Children’s Mercy and she, once again, said she was surprised about the news, but this was very on par with the genotype that is Becker’s Muscular Dystrophy. (My poor husband said that if one more doctor makes the statement “I am really surprised” or “we didn’t expect this” he might have to punch someone). We set up an appointment for Roman with the Muscle and Nerve Clinic for Monday, April 28th, and we will see the same team, Dr. Rinaldi, Genetics, Physical Therapy, Occupational Therapy, Pulmonary, Dietary, and Social Work and he has been set up with Chase to see the Cardiologist on June 16th. I assume they will do the same DNA panel to check and see if he has the exact same deletion that Chase has, or some other variation. At this point, since we don’t have the DNA to confirm it, it was explained to me that while it is not 100% confirmed that Roman has BMD, it is very probable due to the level of his CK serum. Roman currently shows no symptoms of this disease and we hope and pray it stays that way for a long, long time.