"Jack" the brain lesion
Related to: head tilt
We got a second MRI in July 2021, and to our complete shock, we learned that a lesion (a nice way of saying brain tumor) is what likely caused her cerebellar hypoplasia and all her related symptoms. I've nicknamed it "Jack" for really no reason whatsoever, but it helps me handle the overwhelm from this.
I distinctly remember leaving a message for my pediatrician after Zuzu's 8 month appointment because I had forgotten to mention that she wasn't babbling. She's my second child so I knew that the expression of noise was very different than babbling. My pediatrician said to "wait and see" and that maybe her bilingual environment contributed to some form of 'normal delay.' I took her advice and kept an eye on it. I got most concerned when Zuzu was 15 months old. A family member wondered why her face was asymmetrical and that tipped me over to decide to go to a neurologist. I was already aware - and concerned - that she was behind with walking and talking, and this seemed like yet another issue (incidentally, I didn't notice the asymmetry myself!) To be honest, I had somehow convinced myself that she probably had an issue but that the issue wasn't serious. After all, there are a thousand reasons why a child would be talking late and I figured it was mild. My mind didn't put all the symptoms together b/c I guess I was in denial about the bigger picture - it's hard to see that there's something wrong with your child. Eventually, by 18 months, I finally 'saw' that all these small concerns might actually add up to something more important that I had been missing.
This part was not fun. I finally pushed my pediatrician for a referral to a neurologist not because of any of the symptoms I previously mentioned but because her head size was consistently small at every well visit. Finally, they said, 'ok, if you're worried about her weight and height then go see a neurologist.' At our first neuro appointment, I was shocked that the doctor recommended an MRI. I thought she'd clear us and it'd be a matter of something mild or that she was just a late bloomer. It was frustrating because I was the one who had to self-refer; why hadn't anyone put together all these things I had been mentioning? We got a second opinion who was the Head of Pediatric Neurology at NYU.; he had been practicing for more than 30 years, so I really trusted him. He observed her for 45 minutes and said she looked ok and that an MRI wasn't necessary. I literally danced in the streets with joy. But, I pursued an ENT appointment b/c her tongue was deviated and there, the doctor said we need an MRI asap. They worried that the deviating tongue meant she had suffered a stroke in utero. The MRI showed she was missing four of her cranial nerve and part of her cerebellum. It's kind of mind-blowing that the Head of Pediatric Neurology didn't recommend an MRI. Sometimes I feel like experts are looking for one big diagnosis that would explain everything and so miss something like my daughter's diagnosis which is 'smaller' and more 'rare'. I don't want to think about where we would be if we hadn't gone to the ENT. That eventually explained everything.
My advice is to go with your gut if you think something is wrong. And, if you feel that something is wrong but find internal resistance to accepting it, just remember that Early Intervention can really, really, REALLY help your child and you don't want to window of time on that to close. For me, the best way to advocate for Zuzu was to try to figure out the source of the problem. Also: Facebook groups were useful to find and vet doctors. You still need to vet them yourselves, but they're useful for local resources and to get started on making phone calls to specialists.
Below is a timeline of Zuzu’s observed symptoms, diagnosed conditions, and treatments and therapies.
0 months – 18 months
3 minutes to complete
Zuzu completed this assessment at 4 years and 6 months.
Signs & Symptoms
Treatments & Therapies
Doctors & Specialists
On PROMPT therapy
PROMPT was so expensive that I had to find another solution.
On Dr. Belinda Marquis
I have her to thank for realizing Zuzu needed additional diagnostics.
On Dr. Vikesh Modi
He's skilled but lack bedside manner so it's hard to get all your concerns addressed.
On Asymmetry in face
Our doctors said she'd likely grow out of this and it looks like she has. If she hadn't, they said we would discuss surgery when she was closer to being an adult.
On Physical Therapy
We had an EXCELLENT physical therapist via Early Intervention. The key to her success was that he constantly built on what he was doing with her before and the two of them built up a lot of trust.
On Feeding Therapy
Zuzu got feeding therapy b/c she would cough when she ate, which was related to her vocal cord issue. This was very stressful for us because our therapist pushed back on a lot of our habits, which in part, were informed by cultural practices. Eventually, Zuzu improved enough that I felt like we could manage on our own and I canceled the mandate.
On Dr. Lily Cohen
I highly recommend Dr. Cohen. She is a mother herself and is really sensitive to what the parent might be feeling. She explains information very clearly and with empathy. She is also very, very, very qualified. She ordered the exact right tests, explained everything, and was very supportive. She also stepped in as our care coordinator because no one was shepherding us around the system of different doctors. She is very busy and stepped away a bit once Zuzu was well set up and making progress.