I've been thinking about this blog post for a long time. I've avoided writing it for almost as long as that! I imagine the people closest to me who will actually read this blog post already know about our daughters progressive eye disease. I'm sorry for the repeats if that is so, thank you for reading and thank you for your continuous support for our sweet girl.
When our oldest child (a girl) was just over a year old we noticed that she couldn't see in the dark. This was a little worrisome to us but we didn't freak out about it because we didn't know we should for one, and we didn't have any clue of the implications for another, the most important reason is that we weren't ready for the truth at that point in our lives. As she got older we started noticing more clues that something wasn't right with her vision. She would trip over things in dim light. She would freeze in the dark and not know where things were located. She NEVER got out of bed at night, unless there were bright lights on.
We took her to her first eye appointment when she was about 3-4 and the optometrist examined her and agreed that she needed glasses for nearsightedness but did not believe us about night blindness. It just did not occur in children that young. It wasn't possible. This happened for 3-4 more years, every year we would go to the eye doctor and plead with them to do a more extensive exam, longing for some kind of answer. Every time it was the same thing. "Kids don't get night blindness this young". "You're worrying too much"
Then the year she was going to turn 8 we took her to her annual exam, and once again I told the doctor of how she ran into things in the dim light and dark. How I knew in my heart something was going on with her eyes. He did the regular eye exam and said he couldn't see anything wrong with her eyes.
Then I asked a question I hadn't thought to ask before, "Will you do the same exam, but in the dark?"
I honestly think this awesome doctor (He really is awesome! He just thought I was going ballistic momma bear on him.) thought I was crazy, but he agreed. He did an extra exam on our daughter but it the dark, like pitch black. He came away from the machine and said, "Something is wrong with her eyes! You need to see a specialist!" I was so relieved to hear those words I didn't even think about the fact that it might be easier to NOT KNOW what was going on.
We saw a specialist as soon as they could get us in. Once again we did an eye exam and the doctor told us she only needed glasses to correct her vision. There was nothing else wrong with her eyes. I knew he was wrong. I begged for more tests, thinking back I should've demanded them, but I wasn't assertive enough at that point in my life. Something about my complete desperation, or concern for my daughter caused this doctor to act. He told me of a test that would take pictures of our daughters eyes during all different types of light. She was so young she'd have to be put to sleep in order to do the test but it would give us the results we needed in order to see what was going on inside her eyes.
The day of the test came, and as any mother waiting for their child to go under anesthesia, I was nervous, for her, for me, for what the diagnosis would be, and whether or not I was just a crazy person. As I sat in the waiting room I saw several doctors come in, quietly talk to parents and then take them back to recovery to see their child, this was all done right there in the waiting room. When my daughters doctor came in, he asked me to come in a tiny room off to the side of the waiting room where no one would be able to overhear us. He told me in a shocked sort of voice that they had, in deed, found something. Our daughter was suffering from the effects from a genetic degenerative eye disease called Retinitis Pigmentosa. She was in fact suffering from night blindness. She could not see in the dark. Even dim light cause her to be partially blind and lose contrast. Her peripheral vision would slowly degenerate until at some point, (probably in her teens) she will only have a pin hole of sight in either eye. A small percentage of people suffering from this disease also lose their hearing. She would need to have her eyes and ears tested every year to help track the progress of the disease and help her to adjust to the changes that would take place.
Having a diagnosis was a relief. Having a diagnosis was also a nightmare of sorts. Knowing what the problem was, helped us to help her, but knowing the doctors could do little to help her (there is no treatment and no known cure) was heartbreaking and mind numbing.
The next couple of years we tried our best to help her understand what was happening to her eyes and why she had to see so many doctors. While the eye disease was complex to deal with we started noticing a few things with our daughter that we felt needed to be checked into and tested. Her fingers were growing a little crooked and sometimes they would ache at night. We decided to consult her pediatrician who immediately got us in for an appointment and ran some tests. Everything she tested for came back negative so she recommended we see a geneticist for additional testing.
Within a month we were doing genetic testing and filling out more forms and paperwork then I ever thought possible. (and I've filled out a lot of forms!) As we waited for our appointment with the geneticist I admit I was doubtful anything would come of the appointment. So many doctors had been discouraged by our daughters case, so many had said they didn't believe anything was wrong. But when the doctor came in the room he was enthusiastic, energetic, inquisitive and optimistic. He examined our daughter and took what seemed like a million measurements. Then we went for x rays and testing. They took so. many. pictures. so many. My husband and I and our daughter were all tested for some general genetic makeups and then some additional genetic testing for our daughter.
The results took a few weeks, but only a few days after they drew our daughters blood I got a call from the geneticist. He said, "I know what your daughter has! I studied it in medical school, it's super rare, but she fits all the criteria. It's called Mainzer Saldino syndrome. I've contacted a colleague of mine and we both agreed she fits. I want you to make an appointment with a nephrologist ASAP and lets start making sure she is taken care of!"
Personally, I thought this doctor was putting the cart before the horse. But sure enough the results came back and she was diagnosed with a disease that to date has only 22 living cases diagnosed in the WORLD. What?!? Honestly the next six months were a blur. She started being followed by her pediatrician, a geneticist, a nephrologist, an ENT and her ophthalmologist. The appointments got to be exhausting, but the alternative is worse.
Mainzer Saldino Syndrome is a genetic progressively degenerative disease. It includes the Retinitis Pigmentosa that causes eventual blindness and possibly hearing loss. It attacks the kidneys (which is why she sees a kidney doctor), she is currently in stage 2 kidney failure (stabilized and monitored), there are several bone structures in her body that are affected (mostly shorter then they are supposed to be), and once her kidneys fail, the disease will attack her liver.
Without her amazing doctors the disease in her body would simply have it's way with her. Her life is being prolonged and made better by the simple procedures and medications her doctors have found to help her. She has lost about 50% of her vision. At her last appointment the doctors told her she will never have a drivers license. She will most likely need a kidney transplant at some point in the future.
Sometimes when my husband and I read stories about people with only her eye disease, or only the kidney problems we get overwhelmed, then we remember she has all of these things rolled into one. Then we can't even think straight. But through this entire ordeal we cannot deny the God has watched over our daughter, He has placed people, doctors, therapists into her life to help her, and to help us as her parents. It hasn't been an easy process, we find we are continuously mourning for the things that she may never get to see or do in this life. Don't get me wrong. We do our best to not focus on the negative, we have seen so many miracles along the way. So many wonderful friendships and tender mercies that have greatly blessed her life and our lives. There may even come a time she is grateful she can't see.
But sometimes it's hard. Sometimes it's hard to think she won't ever drive her friends around on a Friday night. Sometimes it's really hard that her days of spending hours reading books aloud to her siblings, where she does all the character voices are going to just be memories, because she won't be able to see the words. Sometimes it's just hard to think she might never see more then a pin hole of her own child face, in fact she may never have her own child because her bone structure might not allow her too, or she might not want to risk passing this disease on to her child. Sometimes it's just hard.
Most the time, it's just a part of what we do. We make sure things are cleaned up off the floor so she doesn't trip. We have really bright lights in her room so she can see exactly what she needs to. We help her learn to find her way in the dark. We train our other children to guide her and help her. We don't do things for her, but we make sure she has the opportunity to try, fail and succeed. We give her the opportunity to see things and have incredible experiences. We hope to give her many more of those experiences before her sight disappears. These things are just part of what we do.
The best part of this whole story is my daughter. My daughter is a young woman filled with courage. She is brave. She is fierce. She might be quiet, even timid, but she is strong. So strong. She takes the hard things and she does them anyway, she gets back up every time she falls. She adapts to the changes her body and eyes need and she exceeds the expectations every single time. She is such an incredible example to me. We are so grateful for the many things she is teaching us to see. We see people in need, they may look normal but they need help anyway. Because of her we see them. We see that people can hide pain, we love them anyway. She teaches us that it's ok to be in pain. It's ok to mourn the loss of abilities or dreams. She also teaches us it's still ok to dream, to try anyway. The lessons will keep on coming. She will keep on teaching.
We have a daughter. She's going blind. She helps us to see.