Tuesday, October 8, 2013

The Swing of Things

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.


  1. Oh my heart just seizes up as I read this...you are such a strong, strong mother. Which of us does not worry constantly about our babies and their health, allowing those moments of anxiety to steal away the beauty of the present moment with them. I cannot fathom the pain of knowing-not-knowing that something could be coming in the future that is even more daunting for your sweet little girls. God knows I play enough of those games with myself and Dr. Google for no reason at all. Your strength under the weight of this cross is astonishing and such an example to me. We'll pray for your big appointment in December.

  2. Oh my goodness. Oh my goodness. I can only imagine the thoughts that must be going through your mind, day and night. I will be praying so hard for your sweet girls, and your whole family. *hugs*

    Also, I used to live in Boston, and I was so happy to hear that you will be traveling there to see the specialist. The health care in Boston is top notch. If you have any questions about the city, or need recommendations of any kind, don't hesitate to ask.

  3. Anne... I don't know that I have ever been formally introduced to you. I found your blog and have gotten to "know" you through Joanna Milroy. My daughter Maggie was actually baptized the same day as Pia at St. Gertrude, and I have often seen you at mass. Even my neighbors Angelee and Netra (unsure of the spelling) and I have made the connection that we both "know" you.

    Anyway... it's a small world. I just wanted to leave a quick note to let you know that your story and your strength are inspiring. I am going to say a Rosary for your family tonight, and I pray that you feel strengthened by the prayers I know many are lifting up for you.

    1. Anjuli mentioned knowing someone at st. Gertrude's...that must be you! :)

  4. Praying for your family... I love to follow your blog (you always crack me up!) And looking at my Zenon, born the same month as G (MDC DDC buddies), my heart breaks for you because of the uncertainty ahead for your family. You all have my love and prayers. <3 Kris

  5. I am so sad for you. But then I don't want to be sad because you are right, God has blessed you with a loving husband and 3 amazing babies. I will put you all on my daily prayer list. I know we are supposed to trust and not worry, but for a mama, that is often easier said than done.

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  7. Oh, Anne - Karen asked me a few weeks ago when you posted this if I kept up with your blog, and admittedly, I haven't since I disconnected/reconnected my FB account. She summed up your post for me and my heart ached for you then. I just remembered I had not actually read your post and came back and there are tears in my eyes - tears of sadness for you as I can only imagine the pain you must have felt and must still be struggling with knowing your children have the possibility of losing something so beautiful that we take so for granted, BUT also tears of I don't know...amazement at your faith. Mothers like you remind me to take each day as the gift it truly is and to really see my children, even when my body and my mind are completely spent from the chaos that has become my world presently. Know that my little family will be praying for yours as you continue this journey. I know God is already using you for good and will continue to do so through all of this. God bless!

  8. Oh Anne, I cannot image what's going on inside your heart! Within the past few weeks I've started praying the rosary again (I haven't been to mass in years, my husband and I go to a non-denominational church, but have been at Pax Christi volunteering lately and have felt a sense of true peace when I'm there). I will for sure add your family to prayers.