We first had the privilege of meeting Harper during our inaugural Rare Disease Day Symposium. Her rare disease was caused by mutations to the protein our lab studies. Harper's family generously shared her genetic information so that we could incorporate her case into our research. Our ongoing research is dedicated to the memory of Harper, whose life and smile inspires the work we do in the lab to study mitochondrial rare diseases.
Reflections by Harper's Mom
Harper Grace was brought into this world on February 4, 2016. And that’s where the “normal” part of the story ends.
Shortly after Harper was born we quickly noticed that things were "off". On day 2 of her life, we found out that she didn’t pass her hearing test. Day 3 rolled around and not only was her coloring quite dark, but she also wasn't opening her eyes any longer. We brought Harper to the Pediatrician and she sent us immediately to Mott Er (for her jaundice…the Pediatrician wasn’t too concerned about her eyes). While we were there, we asked the Resident to look into Harper’s eyes since she was not opening them-sure enough, she had abrasions in both of her corneas. They gave us erythromycin ointment for her eyes, put her under some lights to “cook out” the jaundice and 12 hours later, we were on our way home, figuring that was just that! All we had to tackle now, was her hearing loss.
How wrong we were.
Weeks passed and Harper continued not opening her eyes, unless in a very dark room. We took her to Kellogg Eye Center weekly to try to figure out what was going on. She was seeing a Pediatric Ophthalmologist and a Cornea Specialist. Neither could figure it out. We tried what felt like everything to help “fix” her eyes. Drops, ointments, contacts…! Finally after a month or two her abrasions/dry spots started to clear up and things started to look up and we thought we had gotten through the “hard” stuff.
At 2 or 3 months Harper still wasn’t cooing. She wasn’t smiling. Things felt off. I asked her (then) Pediatrician if we should enroll her into Early On and she told me no, I’m worrying for nothing, some babies just progress a little slower than others. I knew she was wrong and I made another appointment with another Pediatrician. Harper had no head control, things were off with her eyes still (horrible light sensitivity and would water for no reason), no smiling, no cooing, no noises really at all. Something HAD to be wrong. The next Pediatrician agreed and said lets get her into Early On. So we did. We also switched Pediatricians.
Months passed, Harper still had sensitivity to light (we couldn’t even bring her outside) and a nystagmus began in one of her eyes (then later in both eyes). At around 5/6 months old, Harper’s Ophthalmologist decided it was time to get her into the OR to take a look in her eyes/at her optic nerves. She also ordered an MRI to take a look at her brain as well as optic nerve. To our dismay, the MRI and her tests/observations in the OR came back completely normal of both her brain and optic nerves. It was then that our Ophthalmologist told us that all of this had to be genetic because she can’t find the root of it and there were more things than just her eyes…so she thought it was time to see a geneticist. We got with our pediatrician and she sent in a referral to Genetics at Mott…only to find out there was an 18 month wait list at the time! I am from Grand Rapids and knew that Spectrum was a superior health system as well, so we called their genetics department and got a referral in to them. Blood was drawn, sent to a lab and the waiting game began. We received a call back from our geneticist saying that more testing was needed. So this time, Harper, her father and myself all had our blood drawn and was sent over to the lab again. This time around, we did a Whole Exome Sequence test and it would take much longer than our first one. So we waited.
From there on, it was a downward spiral of referrals. Our next referral was to Neuro. Which then trickled down to Physical Medicine & Rehab. GI. Sleep Study. Pulmonology. Aerodigestives Clinic. ENT. Audiologist. OT. PT. Speech. Swallow Studies. Feeding therapy/VitalStim. MRI’s. CT’s. Then later at the end of her life, Palliative Care and eventually Hospice.
From age 1-2.5, we were in and out of the hospital what felt like monthly. We heard back from her geneticist regarding the WES right as Harper was in surgery for a Direct Laryngoscopy, Supraglottoplasty with Carbon Dioxide LaserExcision, Flexible Bronchoscopy, with a Bronchoalveolar Lavage, CT scan of lungs & Placement of gastrostomy tube. As it turned out, Harper had a genetic mutation on her BCS1L gene. One mutation they had seen before, but one they had not…so no one really had any concrete information they could give us. No life expectancy guesses either.
Harper’s list of disorders reads like this: Mitochondrial Disease, Biallelic Mutation of the BCS1L gene, Bjornstad Syndrome, GRACILE Syndrome, Gross Motor Development Delay, Infantile Spasm, Bilateral Corneal Abrasions, Corneal Epithelial Defect, Nystagmus, Bilateral Hearing Loss.
There was much more, but how do you paint the picture of a very sick child and her 2.5 years of medical history into writing.
Through all of this…through the 2.5 years of our baby’s life…Harper rarely ever cried. Up until her infantile spasms started, we emailed our Neurologist in Akron and told him that we have never seen such a happy baby in our life. Harper was always happy, always smiling. But as soon as her infantile spasms hit, it was rare that we would see glimpses of our “happy baby”. I so desperately want to write about this beautiful life that Harper had, but in reality, it really wasn’t. It was a difficult life to live (I assume) and a difficult life to watch. We tried everything in our power to fix her…to save her…until we just had to come to grips with the fact that really, beyond loving her and providing her the care she needs, there isn’t a lot we can do. This is Harper. We had to let go of any hopes and dreams that we had for her and change that to new hopes and dreams, like focusing on her quality of life and making her life as enjoyable as possible by whatever means possible. As soon as we met with Palliative Care at Mott, our lives were drastically altered-for the better. They helped us focus on her quality of life. Ultimately, as things started to go downhill a bit, they led us to Hospice (of Michigan), of whom we will forever be grateful for. The care that they provided her, as well as us-the family, was invaluable. Second to losing Harper, I would say the next hardest thing was losing them in our lives.
Harper taught us more in her 2.5 years on this earth than I could ever put into writing. She has formed us into the people we are today and the term “she will be greatly missed” doesn’t even begin to explain the depth of longing we have for her. But she came onto this earth to help others. To help the genetics “world”. To help us and her sister become better people, caretakers. To help us realize that sometimes the smallest things that we take for granted, like a smile, is actually one of the things that we should celebrate the most. Harper will be forever loved and forever missed.