Medical Journey to NPC Diagnosis

family picture with newborn Marian

She's so small. That was my first thought when I first saw Marian, like a miniature porcelain doll.

At Marian's early well baby visits her weight gain left something to be desired. It took her several weeks to hit 7 pounds and at Thanksgiving, when she was three months old, she only weighed 8 pounds.

Marian 3 months old

Marian on Thanksgiving weekend, weighing in at 8 lbs

At Marian's 6 month visit she wasn't sitting up. The doctor pulled her from laying down to sitting and her head lag was appropriate. When tipped Marian knew to put her arm down to support herself, but she had almost no core strength. Marian did impress by saying a garbled "hi" to the doctor at this visit which was exciting. Her weight percentile was low, in the 3 - 5th% range and she also wouldn't bear any weight on her legs.

At 8 months I called our pediatrician as Marian still wasn't bearing weight on her legs or sitting steadily, she also was having trouble transitioning to solid foods. With her support I called Regional Center. The physical therapist evaluator right away said Marian has hypotonia or low muscle tone - something we'd noticed since birth but hadn't known what to call. It's not a condition but a symptom of an underlying problem - ranging from harmless to very serious, often the cause is unknown and not significant. I remembered a video of myself in ice skating lessons with my legs wobbling like overcooked spaghetti. It must run in the family I thought, relieved. She recommended we talk to our pediatrician about whether to see a neurologist.

Around eight months old, Marian used her hands and arms to provide extra support to compensate for weakness. You can also see Marian's enlarged belly from her spleen, although we didn't recognize it at the time

Marian was 9 months and could sit for just a minute before toppling over, note the pillow

At this time our beloved pediatrician retired and we had to quickly pick a new pediatrician and make it a good one. We met our new saving grace pediatrician for the 9 month visit. She took one look at Marian and said she has a sweet spirit, which of course she does. Very insightful right off the bat. She wasn't overly concerned about Marian, but did agree she has "mild to moderate" hypotonia and she could see a neurologist as "an aggressive move," just to make sure. I agreed. She also ordered a slew of labs including a liver panel, CBC, thyroid, lead, etc.

The next week, around May, we went to the neurologist, Dr. A, for the first time. I was sick with worry about what she would say. She was overall reassuring but was clear there were many many things that could be causing this, some harmless, some not so harmless. She ordered a CK test (more labs) and said she'd see Marian monthly. If after a few months she wasn't improving she'd order a MRI. I started my question routine. Are there signs of anything degenerative? Nothing that jumps out right now. She recommended Marian start PT right away, as much as possible.

We called a PT clinic through insurance and were told it would be a three month wait for services. In the interim of waiting for Regional Center, we paid privately for physical therapy twice a week.

starting physical therapy

Starting physical therapy with Katie at PEAK Physical Therapy at 9 and a half months, Marian didn't bear weight on her legs and couldn't lift her hips off the ground

A few days later we got the test results (ok I obsessively called the office every day) with Marian's CK level: it was low. This was good in the sense that it wasn't high as that would have been a strong indicator for one of the muscular dystrophies. But low CK levels are unusual and doctors generally agree it can point to a problem with muscle mass and/or strength.

In June, I was thrilled with Marian's progress after starting PT, the doctor not so much. She examined Marian and suggested trying to give her more protein to see if that helps the CK level. She said not to worry about the CK now and it could be a lab error, she reordered the test. The MRI that she had previously said we'd talk about in a few months, well, that one she thought we should order now. Oh yes, and there's one other test a microarray to check the number of chromosomes, might as well order that now, too (this came back normal). I asked my question again, does Marian show signs of anything fatal or degenerative? The answer this time made my stomach drop: we'll have to wait and see what the MRI shows.

In July I went back to the neurologist with Emily and Marian, our trio of chaos, the CK came back low again. I can't even tell you how much Greek yogurt I'd fed Marian to try and bump it up. I tried to get Marian to show off her new skills of bearing weight on her legs and pushing from the ground into a supported sit when I placed my hand on her hip and put pressure. The doctor was encouraging but also referred us to CHLA to see their neuromuscular specialist due to Marian's low CK and slow growth/weight gain. Dr. A said Marian might have a congenital myopathy - a genetic muscle problem, ranging from mild to severe. I asked her, pressing her always, it's in my nature - where do you think Marian will fall? No way to know, her guess would be mild to moderate. Can we rule out something degenerative? No.

Marian sitting steadily on a slide

After a couple months of PT Marian could push up into a sit, was bearing weight on her legs and could sit steadily for long periods of time without compensation

In August, just before Marian's first birthday, CHLA offered us an appointment with Dr. C, a pediatric neurologist, a few days before her scheduled MRI. Dr. C was like an angel. She took an extremely thorough history and did a lengthy physical examination. I kept jabbering at her about what is wrong, and rattling off Marian's skills, and can we please just rule out something degenerative already? Marian started to fuss and I was juggling soothing Marian, thinking of questions, and processing the information all at once. So, when Dr. C said, "I think I can feel her spleen and liver and I'd like to order an abdominal ultrasound to check this, " I said: ok. Later when I told Paul about this, he asked, but what could cause that? I had no idea. But it was important, for better or worse. Dr. C also wanted to add on an abdominal MRI and MRI of her femurs/legs to check the shape of the bones and muscles. Dr. C said she would call me the same day as the testing with results so we wouldn't be waiting in limbo agony.

To accommodate the lengthier MRI we lost our spot in radiology that was the next week. The nurse practitioner said they recommend doing one longer MRI instead of two shorter ones.

The next week it was time to bring Marian back to Dr. A for her monthly visit. Marian was sick with croup. We had been at the emergency room with her earlier in the week when she couldn't stop coughing for ten to twelve hours. She was fine at home but when I got her to the neurologist, alone of course, she starte