The Extreme Measures We're Taking to Try to Save Our Daughter's Life

My husband and I can't help but wonder if we're doing the right thing. Given the normal course and degenerative nature of Sanfilippo Syndrome, now is Eliza's best time to actually be able to do things out in the world. With our decision to not go out, we are taking those experiences away.
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The past five months have been quite the adjustment for me and my family. We made the very personal decision, a while back, to not come in direct contact with people or anything people have touched. We are doing this because my daughter has a terminal genetic illness called Sanfilippo Syndrome. She will be 5 in a couple of weeks. The disease is NOT contagious at all. We know of a clinical trial that could stop this disease that may be happening in just a few months' time. Whether Eliza will qualify, we don't know, but we don't want any sickness or virus to possibly make her go downhill faster. We want her to be as healthy as possible in the hopes a trial can save her life.

For me, the biggest adjustment was leaving my job as a pediatrician for special needs children. My time there was an ironic preparation for what we face now, and I am forever grateful for the examples of strength the families and children showed me.

I never dreamed I'd be a stay-at-home mom and teacher for my children, especially under this type of circumstances. I constantly doubt my ability to be all that my kids need me to be right now, and every waking hour of the day: teacher, organizer, cook, cleaner, referee, comforter, entertainer, and it goes on and on. I wonder, Are they actually learning anything? We Skype with their schools, though that can be difficult and is certainly no substitute for actually being there.

I'm just not that entertaining... How many times can I play mermaid magnet dolls, run outside to try and find the "snow princess in the highest castle," read Little Red Riding Hood and still keep my sanity? Well, quite a lot, it seems. I feel so lucky she still has these interests and her imagination. I have intentions of making magnificent, crafty holiday-themed handprint paintings with the kids, but these never seem to happen. I've been learning to let go of the "Pinterest fantasy" idea of staying at home.

We also have no TV in the house by choice. Eliza's speech is much better when she isn't "addicted" to the TV. Children with this syndrome can be obsessive about things (more than a regular child who has tantrums when the TV is turned off). We can't have the computer out in front of her during the day for the same reasons, except for connecting with school or family via Skype. This makes it very challenging to do the Foundation, fundraising, advocacy, etc. Those activities are left for the late, sleepy hours after she's in bed -- these late nights spent trying to give our daughter a chance at life and stop this disease for future generations (read more at Fortunately, we have some fabulous people who have been helping us as volunteers, which we couldn't continue without.

Overall, we are happy, just a tired kind of happy.

My husband and I can't help but wonder if we're doing the right thing. Given the normal course and degenerative nature of Sanfilippo Syndrome, now is Eliza's best time to actually be able to do things out in the world. With our decision to not go out, we are, in essence, taking those experiences away from her. We're doing all of this in the hopes that we will actually be giving her the best chance at a full future, but it is still very hard to reconcile in our minds. Our lives have become completely "virtual."

Sometimes we drive around in the car, and now I consciously avoid the roads that take us by playgrounds, parks and schools with kids playing outside. It's not just hard on her, it's also torture for me knowing she wants to be out there. But I can't protect her if I let her go out. It's best that she doesn't know what she's missing. She asks for the zoo, and asks to see her friends at their house... we deflect and move on to a different subject. Our family that loves Eliza so much, like grandparents and cousins, can no longer come and visit. No more hugs.

Of course, we're stir crazy stuck inside this house. My son says he's sick of looking at the same things every day, and I agree with him. He also says he forgets what real people look like, in his funny, dramatic way. He wants nothing more than to go back to school and show the other kids "how fast he can run" since the last time they've seen him. For now, he likes to pass the time by making plans for all of the places he will go once, as he says, "Eliza gets her medicine." As much as he wants to go back to school, he seems to understand why we are doing what we are. He loves his sister. The moments when he says something out of the blue, like when he notices her doing something clever or new, always catch me off guard and bring a tear. "Mom, Dad, I think Eliza is the best Sanfilippo kid ever." In truth, she is suffering this disease just like all the other children out there, but I won't tell him that -- let him be proud. He has been so strong through this and has become more creative with his imagination for new games around the house and in the backyard. We all have. He and his Dad love the backyard "bike trails" they created.

To make matters a bit messier, our house is a tornado zone. Many children with Sanfilippo at this age go non-stop and do not respond to the typical "don't touch that." They seem to be drawn to anything they can pull out and spread about the floor, whether it's clothes from drawers, books, toys, puzzles or dress-up clothes. And this is constant activity.

There is, frankly, no way to keep up. The state of our house is always a source of stress for me. Sometimes I think if everyone could get out of this house for a day, maybe I could catch up. Maybe I can have my husband take them on a day trip to the beach. Maybe... maybe not.

Even without the quarantine, as we call it, we've given up EVERYTHING about our personal selves over the past year. It's what we've chosen, and it's what we have to do. Sometimes, when I get overwhelmed, I give myself a time-out in the driveway. Of course, my son will still be talking my ear off through the window. We joke that he has never had an unexpressed thought.

Despite the oddity of this situation, I am blessed to be here. I am thankful for these precious moments, some fit for Facebook and some not. To be able to witness the spirit of Eliza, Beckham and my husband Glenn is a gift. They are mine and I am proud to be here with them through the fire.

So... this is our new life -- for now, anyway. We've settled in and we're making it work. I sincerely hope no family or child ever has to make this decision or go through any of this.

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