Updated: Sep 30, 2020
Like the many doctors, therapists, child psychologist and specialists including two pediatric geneticists and two pediatric neurologists, with whom we had consulted multiple times over the past 2-1/2 years, not one had heard of it. Symptoms typically appear in early childhood, which include slow motor and cognitive gains, oftentimes global developmental delays, most markedly in the area of expressive language, where most children acquire few to no words, accompanied by seizures and abnormal sleep patterns. This is followed in late adolescence to early adulthood by a sudden and sharp decline in cognitive function and onset of dystonia-parkinsonism and dementia.
On March 28th 2017, my daughter Eva and I went to Nicklaus Children's Hospital in Miami for what we thought was a “routine” genetics consultation, during which time we were to receive the results of the latest set of genetics panels. I say “routine”, because this was to be our third round of genetics tests; the multiple panels run previously had all tested negative for any anomalies. The MRI, EEG, Sleep Study and every other evaluation and test Eva had undergone thus far, did little to uncover the cause of Eva’s profound developmental delays. Aside from her vision issues, hypotonia and ataxic, wide gait, Eva was by medical standards, exceptionally healthy and anyone who ever examined her, saw a beautiful, spirited little girl, who was well-cared for and showed little signs of any underlying pathology nor did she fit any particular phenotype.
Over 1-1/2 years ago I had fully accepted the fact that my beautiful, little girl was going to be special. At that time, I had not simply “resigned” myself to some awful liability nor did I believe this was a burden that I would bear for the love of my daughter. I did not feel remotely the martyr. Rather I had embraced that God had given me a very precious gift. I was given his most precious cargo and was given charge to watch over her journey. I knew that my Eva was in our lives for a specific reason and I was to witness to her life – wherever it brought her. Acceptance, yes – fear, tears, heartache, sadness – absolutely. When I say that I accepted this new reality, I did. This by no way diminishes the challenges, the worries, the hard work and the sacrifices; it did not obfuscate the truth which lay in my heart, the truth which lays in the heart of any mother who is powerless to understand her daughter when she is crying – with no words, no means to express her needs.
She was given an Autism diagnosis before her second birthday and just in the past year she had also been diagnosed as visually disabled. Even with an exceptionally consistent and intensive therapy schedule, with an amazing, loving, inspiring team of therapists, Eva’s progress, although consistent, proved to be achingly slow.
The pursuit of a diagnosis became less important, than providing Eva with the best standard of care and quality of life that I (we) could provide. Of course a diagnosis could be helpful if it would provide additional resources to implement a better course of therapeutic treatment, however based upon Eva’s global delays, I was fairly confident that, her current course of 15-20 hours of one-to-one Speech Therapy, Physical Therapy, Occupational Therapy and ABA/Behavioral Analysis Services would prove to be the beneficial regardless of a diagnosis. I guess my husband and I had a real fear of going down the “rabbit hole” only to become lost. Keeping in mind that we had two daughters, equally in need of our attention and support, we instead endeavored to find the best doctors and therapists in the area and with their guidance, sought to make thoughtful, conscious choices as to next steps. We wanted to safeguard against getting mired in the pursuit of a diagnosis and at the same time, as loving, responsible parents, we also wanted to make sure we were doing what was best for our Eva. We learned that we had to do what “we” felt was best for our daughter, provided that we remain open to suggestions, while honoring what we intuitively knew to the best for our family. In this arena, the practice of acceptance proved to be invaluable for the entire family.
At the recommendation of our second pediatric geneticist, the whole Exome Sequence was performed – which leads us to March 28, 2017. We met with a new pediatric geneticist (our third – a whole blog post unto itself) and were given the latest test results. WDR45 - BPAN - Beta-propeller Protein-associated Neurodegeneration. All I heard was NEURODEGENERATION.
What does that mean? I was told that WDR45 did lead to iron accumulation in the brain which could potentially be seen in an MRI scan. I was told that it was not an inherited condition, that neither my husband nor I nor my daughters had the potential of passing on the genetic mutation. I was only told that Eva’s developmental progress was going to remain relatively slow – similar to what we had thus far witnessed and that she was unlikely to gain expressive language. I was told that although there was no cure, that I was doing a great job and that I should continue with all of Eva’s therapies.
Unfortunately, what I was NOT told was that the genetic mutation DID lead to Neurodegeneration, due to the iron accumulation in the brain. I was NOT told that in late adolescence or early adulthood, that patients with BPAN would experience a sudden and sharp decline. I was NOT told that dystonia, parkinsonism and dementia were all characteristic of this decline.
As I waited to check out of NCH, I was to find out about the grosser aspects of BPAN via the power of Google. I was to gaze lovingly at my daughter who had been incredibly well behaved and sweet after traveling, sitting in the waiting room and consulting with the geneticist for the past six hours. I was to “keep it together” until I was in the safety of my vehicle. I was to then, sob uncontrollably. The whole two hour drive back home in rush hour traffic was a mix of shock and grief. I was to look though my rear view mirror and see my Eva – completely unaware, smiling back at me.
I was to witness her journey.
READ MORE ABOUT SARAH, EVA AND HER FAMILY