We have had a big week.
Mommy’s friend Melissa got married Saturday! We had a fun, wedding filled weekend with her other friends and family. At times my heart ached for you, but I am so glad I got to share this special time with her. It was also lots of fun dating and dancing with Daddy! Also on Saturday Mommy's other friend Melissa came to visit you in the hospital. I didn't get to see her, but she brought you a big, beautiful blanket with your name on it, and her mommy brought you some cute essentials like socks, burp cloths (oh man, will those get some good use) and towels!
On Friday you had a surprise eye surgery. We thought you were going under anesthesia just so that the doctor could get the most accurate measurement of your eyes for glasses and contacts (we will eventually have both). When they got in there, they saw you had glaucoma in both eyes. Since your right eye had scar tissue from your previous surgery that was increasing eye pressure, they went ahead and removed it while you were already under. The left eye is being treated with medicine. Vision is still very possible for you as long as your brain processes the images correctly. Tomorrow I am going to order your glasses since you are already thinking about opening your eyes. We will graduate to contacts when you come home from the hospital and your drops are finished.
The most important event of this week was your diagnosis of Smith-Lemli-Opitz Syndrome (SLOS). We were hoping for better news. It is a genetic disorder which prevents you from producing cholesterol. Since cholesterol can’t be transferred through the placenta, your low levels before birth caused the congenital abnormalities you have now. After birth the body still needs to make most of it’s own cholesterol, so you will need to go on a special diet to keep you as healthy as possible. It is amazing how you have all the characteristics of SLOS--you could be the poster child. Your cataracts, cleft palate, extra finger, physical features, small stature, digestion problems, weak suck and swallow are all typical of the syndrome. . You even have Hirschprung disease that is only rarely seen in SLOS children.
The two things I feared the most for your diagnosis were slow cognitive skills or a shortened life span. Both are likely with SLOS. From what I have read, the majority of children with SLOS have moderate to severe mental retardation. Some don’t learn to walk or talk. Life expectancy can be shortened depending on severity, or it can be normal with the right diet and medical care. Since you have every issue associated with the syndrome, the doctors fear you are on the more severe side.
The entire time your dad and I were expecting you, I imagined what you would be like. In all those dreams I never expected you to be anything but sweet, happy, beautiful, and smart. In the days that followed, there was a mourning period for the little girl I had been anticipating. I no longer had the assurance you would be any of those things I thought were a given. But within a few days I came to know your personality well. You are without a doubt the sweetest baby ever created; always very happy unless it is bottle or bath time. You are absolutely beautiful and precious—everyone says so. And I think you are very smart. You know the smell of alcohol means you are about to get stuck. You know how to play possum when the OT is around, but then perk up as soon as she leaves. You know that when Grammy is there you barely have to fuss for her to hold you, but Mom isn’t as easily manipulated. I had managed to convince myself that by the time you started school your medical issues would be fixed and your features would change as you grew—you would be that bright, bubbly little girl and this struggle would be a memory. So when this diagnosis came Wednesday evening, the mourning process began again.
I am sad for you to not experience so many of the joys in life, simple and otherwise. Depending on how severe your photosensitivity is, you may not be able to spend any time in the sun, which would eliminate the possibility of the zoo, beach, park. You probably won’t have the motor skills to ride a bike. I will be pleasantly surprised if you learn to read. You most likely won’t fall in love and be married. There are no known instances of anyone with SLOS having children.
While we were waiting to find out what your prognosis was, I struggled with what I wanted for you. On one hand I wanted you to be as normal as possible which to me meant cognitively. On the other, I was afraid that you would have a rough childhood if you didn’t meet society's standards of beautiful. The thought often crossed my mind that if your mental development was lacking you might even be happier. You wouldn’t know you could be any different, and would be surrounded by people who loved you. Now that it looks like that’s the case, those thoughts are only a small comfort.
This raises so many other questions. With independent living not possible, what happens if you outlive us? How will I survive if you don't? With a 25% chance all of our children will have SLOS, how will you have brothers and sisters? Do we risk SLOS again, or adopt? And when we do have more children, how do I make sure they experience fun things such as family vacations while never letting you feel left out? How will we pay for years and years of medical bills?
But as I write this I have to remind myself that doctors don’t know everything, and that God isn’t limited by what science says is possible. He stepped outside the bounds of what is considered “normal” to make you the way you are; He can most definitely step outside the bounds to heal you. I have to be careful not to make excuses or exceptions for you. It would be easy to fall into the trap of expecting too little from you, but Daddy and I are deciding now not to let that happen. Always I will gently (and when necessary not so gently) push you to do your best, whatever your best is. My hope is that the small bit of cholesterol you were able to produce before birth was all saved up for your brain, and you will shock the medical field with the progress you make. And if that’s not so, it won’t make any difference to the quality of your life. You are going to love your life no matter what, and I will love mine because you will be nothing less than a total blessing. You already are.