Welcome To Holland | The MADD Life

WELCOME TO HOLLAND

BY
EMILY PERL KINGSLEY.

I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this……
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”
And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss.
But… if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.

I found this poem probably close to a year ago on one of the social network sites on nystagmus. It was this time last year that Avery was diagnosed with nystagmus. We went up to Hopkins knowing that nystagmus was a possibility since she really hadn’t started focusing since her cataract surgery at 5 weeks and her eyes seemed to be in constant motion for the last few weeks. I remember the visit vividly. We drove home that night with so much uncertainty. We were told Avery wasn’t blind but at the time I think we felt that she wasn’t far from it. How could this be? This wasn’t what we signed up for. We signed up to have two perfectly healthy children. This wasn’t supposed to happen to me. These were just a few of the thoughts that were running rampant in my head. We went home that night to our condo where my parents were awaiting our arrival. We told them of Avery’s diagnosis and the tears began. The truth was nystagmus is not actually a diagnosis; it is a symptom, which meant we still didn’t really know her diagnosis. We were going to have to schedule a MRI and possibly see a geneticist specializing in small eyes. I ended up taking the next day off of work; I just wasn’t ready to go back especially considering it was a Friday. And that is when my research began.

The internet is equipped with so much information. You can’t believe everything you read, but if you understand that the internet can be a wonderful place for resources. RESOURCES = KNOWLEDGE = POWER. I have found that there are SO many eye disorders out there and SO many of them have so many of the same symptoms and so many of them are diagnosed by an ophthalmologist looking at the patient’s eyes (talk about scientific)!

Over the past year we have had more doctors appointment than any little baby should have EVER and we have seen many doctors and specialists, and to this day we still don’t have an official diagnosis. Avery had her first ERG done January 31, 2012 at Will’s Eye Institute in Philadelphia. She had it performed while awake and the results came back as showing mild cone abnormalities. Overall, the doctor’s felt it was inconclusive and that we should have the test repeated after Avery turned one. So on November 6, 2012 Avery had her second ERG performed at Wilmer Eye Institute at Johns Hopkins. This time she had it done under anesthesia so that her doctor at Hopkins, Dr. Repka, could perform a full eye exam at the same time. He told us the preliminary findings of the second ERG was that it was NORMAL!! It showed Avery had NO cone or rod abnormalities, so that ruled out ACHROMOTOPSIA (which I was certain she had for awhile) and all other cone/rod dystrophy’s. Since Avery is developing normal and her MRI came back as normal, Dr. Repka feels that it is limited to her vision. He basically felt that her cataracts were the cause of everything else (nystagmus, dilated eyes, small eyes, photobia, etc). This was good news….

Until we received the formal write up of the procedure from Dr. Repka While we have known since Avery was only a few months old that she had small optic nerves and her eyes are a little smaller than normal, this was the first time I had ever had a doctor use the work hypoplasia….optic nerve hypoplasia. In it’s most basic terms optic nerve hyspoplasia (ONH) means small or under developed optic nerves. However, ONH is often associated with several developmental brain abnormalities; midline brain structures including the pituitary gland. And if the pituitary gland is abnormal, growth hormone deficiency may result in delayed growth and development of a child. So obviously I wanted to know does Avery have ONH because nothing indicates that she does. A few weeks later I asked Repka and he did not want to give her that diagnosis; however, as her mom I want better answers. At the same time I asked Repka about the official ERG report. Well guess what it HAD come back with minor abnormalities in the cones of both eyes and the rods of the left eye. What in the heck does this mean? Repka wasn’t certain if there were any implications because of this or not. So once again I found myself confused and wanting more answers. Is Avery’s case really that rare? I have done TONS of research and think that the answer might be yes but I honestly don’t know. What I do know is that I think it is time to get some more expert opinions. I want to take Avery back up to see Dr. Levin in Philadelphia. I plan on contacting him via email in the next week first but I have to work on my email so that it captures his attention. And while we still don’t have an official diagnosis, and may not for awhile Avery clearly has nystagmus and in my opinion strabismus (her eyes have been misaligned over the course of the few months). Nystagmus can not be cured but there are options to improve it and strabismus can be corrected. The visual systems most critical period is between 0 – 6 months of life and then after that a child’s visual system continues to develop until about age 8. I’m on a mission to connect Avery with the right doctors…they are out there, I just need to find them. While I don’t want her life to be about doctors and finding an official diagnosis, I think it’s important we do a little more at this point in time to get some answers. I hope to have a plan of action in place in the next few weeks.