Overwhelmed

Jan. 2019

The day we’ve been waiting for with much anticipation has finally come and gone— our all day appointment at The Neuromuscular Clinic. My hopes were high for the outcomes this day could bare with new specialists, different tests, and fresh perspectives. Though, as strong as my hope was, it was closely shadowed by doubt and hesitation. Was I about to subject our family to a battery of tests and consultations that would yet again yield more questions than answers? Thankfully, my mind was quickly put to ease once we arrived. While nothing with Rowan is clear or definitive, we were armed with an abundance of information and forging a course of action to move forward.

First up, we met with the Neuromuscular Specialist. After reviewing Rowan’s chart, she told us she suspects his condition is in the myopathy family or CMS (congenital myasthenic syndrome). This came as a shock to us since Rowan has already been tested for CMS and cleared—a victory we celebrated. But, apparently there are other types that he has not been tested for, so we cannot rule those out. She went on to explain her rationale was based on his ptosis combined with Marcus Gunn syndrome (yes, another new diagnosis). Typically, these two things combined indicate a neuromuscular issue. While hearing a suspected diagnosis is a relief, it’s equally a struggle. From my experience, it is evident doctors don’t just throw-out a suspected diagnosis unless they are extremely confident in their “guess.” So, while narrowing down a root cause is helpful so I can continue to conduct the research I can’t seem to stop from doing, it’s terrifying to discover these suspicions are forms of muscular dystrophy. The exam continued by evaluating Rowan’s reflexes. The doctor discovered he does not have an ankle response, which explains the “unique-to-Rowan” foot movements he makes.

Next, we saw the Dietician. I was nervous and fearful for this portion of the day because Rowan has not grown in months. Would they push for a feeding tube? Would I need to plead Rowan’s case? I assure you, this boy eats! He just does not seem to grow… However, that wasn’t the case at all! The doctor was happy with his diet and she herself suffers from a laundry list of food allergies, which is extremely helpful. Since Rowan is proportionally tiny, his BMI is great, so she concluded his lack of growth is likely a metabolic issue.

Our next appointment was with the Physical Medicine and Rehab specialist. Between PT, OT, ST, and home and feeding therapy, having a doctor oversee and coordinate care is a true Godsend. Initially, she stated her concern was Rowan might have hip dysplasia. Thankfully, the follow-up x-ray ruled this out. She went on to say we will re-evaluate his SMO braces in a few months and consider more supportive options, but for now they are doing their job. She also evaluated Rowan’s moderate thoracic scoliosis (30°) and ongoing torticollis. We will continue seeing an Orthopedic Specialist every 4 months to monitor the progression. The doctor also brought up Botox to help the torticollis, but it was decided the risks at this time outweigh the benefit in Rowan’s case.

On to The Heart Institute for cardiac testing. Rowan was ordered cardiac testing to establish a baseline for his heart function. Most cardiac conditions associated don’t present themselves until you’re older, but since the heart is a muscle and Rowan has hypotonia (generalized muscle weakness), they wanted to monitor him. The “simple” tests they needed to perform are anything but simple when you’re a 17-month-old that’s not sedated, hates lying still, and needs to be held down. But, we managed and somehow got through it long enough to get what they needed. The Cardiologist had no immediate concerns given his EKG and ECHO results. However, that is subject to change if genetic testing comes back positive for one of two specific types of muscular dystrophy (Duchenne or Becker). Best-case scenario, we won’t have to see the Cardiologist again for 2 years.

Last but not least, we completed our day by seeing the Pulmonologist. We were absolutely blown away by this doctor. He was by far one of the most caring people I’ve ever met and was incredibly knowledgeable (think Max from New Amsterdam). He walked in, offered me his chair to sit in with a passed out Rowan, and asked what he could do to help us in our journey. We spent the next hour talking about all things Rowan—from his head to toe issues to his day-to-day routine. Together, we came up with strategies to help develop better sleeping habits, including the possible use of a weighted blanket. For those of you who aren’t aware, Rowan has never slept through the night; he is our little night owl.

During this last exam, it was discovered that Rowan has chest wall muscle weakness creating seesaw breathing. This may be affecting his gas exchange causing insomnia. Because of this, we will need to follow-up with a sleep study in the next 6 months. For now, we are being referred to a BMCP (Behavioral Medicine and Clinical Psychiatrist). The BMCP we were referred to specifically specializes in neuromuscular kiddos. The Pulmonologist explained the BMCP is necessary because Rowan is showing signs of autism spectrum disorder in addition to the neuromuscular concerns they have. For now, I am willing to agree that Rowan presents some signs of autism. However, the most glaring factor is social anxiety, and for anyone who has met my child, they know Rowan is a social butterfly. But I suppose time will tell…

After all of the tests and consultations were completed, Rowan’s team of Specialists agreed the next step was a muscle biopsy, EMG, and nerve conduction study in addition to more lab work. A referral was also placed for The Plastic Surgery Division to re-evaluate the need for a helmet for his plagiocephaly and to GI for chronic constipation. With all these new referrals we are up to 17 specialists—one for each month our little man has been alive.

Rowan’s list of diagnoses is growing but we still have yet to find our ‘one-size-fits-all’ diagnosis that explains what exactly is going on. Despite the outcome, it will not change how amazing our little man is, not even one bit. Though, part of me cannot wait to have an answer because we could begin to whittle down our specialists and the number of tests he is subjected to. The tactic of aimlessly shooting in the dark and waiting for something to stick is exhausting. I know he won’t remember these first few years, but I will. There are days I want to throw in the towel and stop putting him through all this, but I know we can’t. At the end of the day if we call it quits and later find out there was a gene therapy or medication we missed the treatment window for, we would never forgive ourselves. So, we continue to schedule appointments and tests and fill the calendar but most importantly, we continue to pray. Pray whatever it is that it’s not progressive… pray for answers… pray for a happy healthy boy. I would love to tell other mamas in similar situations that prayer makes the worry, fear, anxiety, and stress fade away but I can’t… I can say though, that it helps!