Wasn’t last week’s blog post so nice and sweet? Made you feel warm and fuzzy to hear about Mig being an awesome dad. Yeah… this post isn’t like that. It’s been a challenging month (months? years?) and it’s time to share a word that has been haunting us since our diagnostic journey with Adelaide began three years ago.

In the earliest days of our Google dumpster dives researching Adelaide’s symptoms one word kept coming up: neurodegenerative. According to the dictionary it means: resulting in or characterized by degeneration of the nervous system, especially the neurons in the brain. The most well known neurodegenerative diseases are Parkinson’s and Alzheimer’s: conditions that typically affect adults, and mature adults at that. So why was this word coming up in searches for information about our daughter? Neurodegenerative disorders are incurable and fatal with the patient deteriorating before your eyes. These diseases are devastating to witness in grown adults, but in a child? I couldn’t even begin to fathom.

I have a vivid memory of sitting on the bus after work, crying in relief after I received news that Adelaide’s genetic testing had been negative for spinal muscular atrophy. SMA is a devastating neurodegenerative disorder and due to a handful of symptoms including tongue fasciculations, (it essentially looks like her tongue is always vibrating) it had been one of the leading diagnostic theories at the time. For the next two years every genetic test came back with zero leads, but that also left us with hope that we were ruling out the known neurodegenerative disorders. 

Despite having intractable epilepsy, Adelaide continued to develop - albeit ludicrously slow -  we could still see small inchstones achieved. That is until her infantile spasms returned and she experienced a major developmental regression. These regressions occurred several times over her first two years but could always be correlated to seizure activity. She was also able to bounce back from these over time, regaining most of the lost skills. Had her condition been neurodegenerative we would not expect to see any progress. Then in August of 2017 she had a major regression without a correlation to seizures. In fact, it was during a three month period of seizure freedom. We did an EEG and MEG (think a combo of an MRI and and EEG) to see if she was having deep brain sub-clinical seizures that we just couldn’t see. There was definitely abnormal brain activity but nothing that seemed to be responsible for her loss of smile and motor skills. When the seizure’s returned the following month we thought perhaps that the seizures had been there but that the technology just wasn’t strong enough to detect them. Once again, we gladly swept neurodegeneration off the table but this time I could still feel its presence lurking. There was no data to prove it was the culprit but it was also getting harder to clinically disprove it.

The other fact that set the August 2017 regression apart was that she never recovered her lost skills. In the nearly two years since we haven’t seen her smile, prop sit or reach for an object. Looking for answers, Miguel and I began to question if the very meds we were pushing into her, in hopes of helping her, were actually the reason for the losses. After all, the side effects for these meds are intense and it was certainly not out of the realm of possibility. Most of 2018 was spent trying different med combinations trying to find something that would help with her seizures but also allow her to be more alert. Then, this past winter, when Adelaide began experiencing respiratory decline, including several instances where she stopped breathing all together, neurodegeneration stepped out from the shadows yet again. We sat in a conference room with most of her medical team where they explained that respiratory decline was a symptom of neurodegeneration and was their leading theory for what we were witnessing with Adelaide. They explained that there was little they could do and we should make her comfortable. I called palliative care services, added night nursing, and showered Miss A with all the love we had in our hearts. Devastated doesn’t come close. We continued to adjust meds and shortly after that hospital stay pulled her off one seizure med and adjusted the settings on her bi-pap machine. Within two weeks she was breathing on her own again. The med had been causing the respiratory decline and the settings on the bi-pap machine had caused the coding episodes. The loss of my baby girl was not iminent and I have never been so happy that her doctors were so wrong.

I need to pause here and say that I do not blame Adelaide’s doctors for getting this wrong. Miss A’s condition is ludicrously complex, she often responds paradoxically to meds and is a baffling mystery to every medical professional she meets… and we’ve met a lot. Honestly, I’m grateful that we have a team of doctors that are still fighting just as hard today as they were the first day they met her because watching her struggle is discouraging for us all.

The realization that Adelaide’s meds had caused great harm, resulted in Miguel and I digging our heals in further to the theory that Adelaide’s regressions were med related. Not only was it plausible, but it was also fixable. If we were correct then there was a possibility that we could see Adelaide smile again! With the help of her doctors we came up with a plan to slowly wean each med in turn to see if and how it was helping. Then her paroxysmal sympathetic hyperactivity put a damper on those plans as we had a new mole to whack in the constant effort to bring her stability and comfort. With this latest symptom we have found ourselves, once again, questioning a cause and in the unwelcome presence of our least favorite word. It is as if we’re in a scary movie and just when we think we are in the clear the phone rings. To be continued…