There's something about autumn that makes me want to take stock of things. To look at the little gifts I've been given and take their measure. Maybe it's because all the turning leaves and weakening sunlight are achingly beautiful; a beauty too lovely to last. Maybe it's because fall is a reminder that the carefree days of sunshine and play of summer are over...winter is on the way. Maybe it's because this fall, so many beautiful things are happening in my family but they are colored, ever so lightly, with grief. It almost seems the happier or more joyful the moment, the more the pain comes rushing quickly in.
After Pia was diagnosed with her hearing loss, our ENT suggested a new round of genetic testing that was previously unavailable. In April, he called with the results. I honestly thought they wouldn't find anything, so I was shocked to hear him say, hesitantly, "Well...we found the problem. Myosin7A, that gene...has a mutation. We know it to be associated with Usher Syndrome...I'm saying, 50/50."
He went on to explain that our other mutation, also of Myosin7A, was "of unknown clinical significance." It could possibly protect against the other mutation; there was no way to know, other than to wait. Usher Syndrome. Causes profound hearing loss. Severe vestibular problems. Progressive vision loss, beginning sometime in the first decade of life.
Punnet squares, sys and trans chromosomes, stop codons, autosomal recessive....jumbles of foreign words tumbled in my mind as I send Brad a frantic email. He said later, as he left work early to come home, that he understood the phrase, "weeping bitterly."
Our doctor tried to be optimistic, he explained that usually children with Usher Type 1 present with severe balance problems due to severe impairment of their vestibular system, and we didn't have any concerns in that area. But in the weeks after the tentative diagnosis, I had spent a lot of time researching and reading online and over and over again a phrase jumped out at me: "Children with Usher Type 1 typically walk later, between 18-24 months."
The first time I read that, I felt chilled to heart of my being. I remembered how Gianna struggled with her gross motor skills, how she fell so much harder and more frequently than other kids. She was 20 months old when she finally began to walk. For years, she had been in and out of physical therapy. We had seen neurologists and a connective tissue disorder guy. We had been to developmental pediatricians....low tone, no tone, hyper-mobile joints. Our ENT sent us for balance and vestibular testing in July and that was when he changed the status of our girlies to "consistent with Usher Type 1b."
I cannot...sometimes I cannot keep the sadness away. It lives under everything. It punches me in the stomach when Gianna is helping me search for my car keys and upon finding them, declares, "I've got good eyes, huh, mom!" It curls up next to me as I nurse my PiaBaby and we gaze deeply into each other's hazel eyes. Those are the bad days.
On other days, I research gene therapy, gene therapy that is incredibly promising. I read articles by parents who have older children with Usher, they remind me that no one knows the future. It is a lie to believe with certainty that my children will go blind. They might not. There are so many researchers working on retinitis pigmentosa. Some of their findings might even help with the vestibular dysfunction.
Mostly, it all felt like a bad dream. Unreal. I think I was still partially holding out hope that their eyes might be ok until this past Wednesday. Gianna saw a retinal specialist at our children's hospital and he said he is beginning to see signs of slight pigment changes. Gianna's retinas, at the very far edges, are beginning to deteriorate. Her peripheral vision seems to already be affected, and possibly she is struggling to see at night...it's hard to tell because she relies on being able to see to keep her balance, and at night it's already dark so...what is her lack of vestibular system and what is her eyes?
In December, we will go to the Massachusetts Eye and Ear Infirmary in Boston to see "the" retinitis pigmentosa guy...he is running clinical studies on Vitamin A and DHA therapy. They will conduct an electroretinography test which should give a better idea about how far things have progressed and possibly estimate the future course of the disease. In the meantime, I bought a lot of nightlights and have joined the
Coalition for Usher Syndrome Research.
Brad and I have been drawn more closely to prayer through all of the unique challenges we've faced, but this is the biggest, scariest thing we've encountered. I never grieved like this when we first found out we had a Deaf child. Myosin7A could be the way God will sanctify my family. I don't like it, but I can choose to still be hopeful and experience the joys of the blessings and difficulties we're handed. I won't lie...right now, it's hard.
My PiaBaby has the sweetest little voice. In the past few
days she has started saying "mum mum mum" when she signs MILK (and
now..whenever she wants anything in the world, because she has figured
out that when she babbles, we all freak out and throw a party.) She
says,"Uh uh uh" for "up up up" and her signing has exploded.....She
attempts almost every new sign she is shown. Her receptive auditory
language is crazy...she knows all of our names and a lot of other common
words just by audition, and she is able to reproduce the "shhh" and
"sss"
Ling 6 sounds. She is 14 months old and so curious and sweet and I want to push the "pause" button. I love her so much that it hurts.
Gianna
is adjusting to mainstream schooling and making buddies and acing
spelling tests. She is wiped when she comes home, but mostly she is
learning a lot and enjoying school. I cannot get over how big she is.
Dominic is telling people he is home schooling...which mostly means he gets read to a lot and that I have to make him a lunch in a real lunch box like Gianna gets.
We are getting into a routine of cooler days and daily first grade homework and keeping up with therapy schedules. I look around at my life...at my children and my husband and our families and our friends and I feel incredibly humbled. I did nothing to deserve these things. How can I not be thankful, even when I know that behind my daughter's eyes something is waiting like a shadow?
How can I not trust that God is with our family, when I look and see what He has done for us. A couple of kids, getting married, having a baby, discovering that our plans would be vastly different than we'd ever imagined. With so much grace and prayer and family support we got into the swing of our new lives, over and over again. I have to trust that it will be that way with this.
