Little Miss Avery: October 2011

It all started about a year ago. I was playing with Avery in my arms at my mom's house on a Thursday night. I asked to blow up her cheeks or as she likes to call it "make a bubble." Well, it was bigger on the right side than the left. My mind went to facial nerve damage b/c that's CNVII and we have to learn that in school, you know, Bell's Palsey or something. Yikes! nerve damage? That's no good! I called the doc the next day and I couldn't get in till the next Wed "because it's been going a while." Well, her crooked grin had been "going on awhile", maybe 6 months? A year? We had to look back at pictures but everyone in the family knew Little A had a cute crooked grin - it made her, her. While I thought this was an under reaction to a possible facial nerve injury or other neurological problem, I tried to be the mom and not the pediatric nurse practitioner.

We saw the pediatrician on Wednesday the following week. She looked at her and could tell what we were talking about. She brought in a colleague to look at Avery, to which Avery responded, "Stop looking at my face." They noted "atrophy" specifically but didn't know what to do with that information. A concern for them was a brain tumor so we were scheduled for an MRI at Children's. That was scheduled for two days later, on that Friday. Her MRI was completed and we heard before the weekend that it was negative - no tumors or anything else that wasn't supposed to be there. The pedi then wanted Avery to see a Neurologist which was also approved to be done at Childrens. I called to schedule the appt. With the help of an NP in Neuro that one of my friends knows and me dropping the fact that I work there, we were able to get into the clinic the following Wednesday. While the weekend seemed like eternity, I knew we were SO lucky to get in that quickly! A wait for a neuro appt can be weeks to months. Over the weekend Greg and I googled hemifacial atrophy which just kept leading us back to this super rare autoimmune disease called Parry Romberg Syndrome. It couldn't be that though, because there's only like 600 people in the world with that so there is NO WAY my kid could have it. That is just too far out there. NO WAY.

The following Wednesday morning we took Avery to see Dr. Moe. He is a super Neurologist who has been around forever. His PA did a routine neuro exam that was normal. Then he came in and looked at her while she was on my lap. He said "hemifacial atrophy" and cocked his head a little to the side and said "parry romberg". He told us a little bit about it, of which I can't remember most of what he said and recommended we see rheumatology and genetics.

With this overwhelming news, Greg took Avery back to school and he went back to work. Another friend of mine knows the rheumatologist at Children's well, so we traipsed over to her clinic for a quick sidebar. She looked at all of the pictures I had gathered and she took one look and confirmed it. She told me about a geneticist at Children's who had been doing some research on PRS. Again, we were able to get in to see her in just a couple weeks. In the meantime, all my colleagues and friends racked their brains and asked friends of friends about this crazy rare disorder.

When we saw the geneticist, they took a thorough history and then we chatted for a long time. We were told that there is nothing you can do about this disorder. It affects girls more than boy, ages 5-10, it is autoimmune. It will burn out in 5-10 years and at that time, maybe we can do something. We received very vague information and really nothing more than we did when we scoured the internet. Not encouraging feedback at all.

Also online, it is described as "linear scleroderma" which is specifically on the face. It's only PRS if it's on the face. With the info, two people mentioned to me to see a Dermatologist. This too was approved by Kaiser (Phew! As much as I bitch about KP from a provider standpoint, they have been nothing but great with this adventure). We saw a great Derm guy at Childrens that had worked with us with the transplant team. He had not worked with a PRS pt but did know of a treatment that there had been a little experience with that was different than methotrexate. It was UVA1 light therapy. And, hey! Some kind, well to do family, had donated a UVA1 lamp to the University of Colorado b/c their child needed the therapy. Not for PRS but for something else. We were so lucky, well, if you can call it that. The plan was to do oral steroids and light therapy. Light therapy 4 days a week for 6 weeks at University hospital in Aurora. And a 3 month taper of prednisone.

This was the plan a week before we were off to Mexico with our close friends the Stutz's for one week to get some sun. We headed to Mexico and didn't use sunscreen on the left side of her face to get a jump on the treatment. Haha, just kidding we put sunscreen on her. When we came back, we dove head first with the help of grandmas and grandpas taking Little A to light therapy 4 times a week 35-40 minutes away from where we all live. And we proceeded through the winter with this plan. She was weaned off of the steroids in ~Feb and we followed up with the Dermatologist (who conveniently moved over to the KP office right next to our house) in March. All looked good. No progression! Yippee! It worked. The Derm didn't think it would progress, it had stopped!.

Or so we thought. Greg continued to go out on the Internet to do searches on PRS. In April, he ran across the CNN article on Christine Honeycutt in Charlotte, NC. This was fascinating and reassuring. It was a surgery which, for all practical purposes, STOPS progression of PRS and repairs the damage done. Greg called Christine's mom and chatted for a good amount of time. I then talked to her that night for 2 hours. At that time, Avery hadn't progressed further, but to have this in our back pocket was reassuring. And they are in Charlotte, which is where we going to have a 4 hour layover on the way to the my brother's wedding in the Dominican Republic just a few weeks later. We met Vicki in the airport in Charlotte and she showed us pictures and talked to us about this crazy disorder. But, I still wasn't sold. I didn't want my kid to have such an invasive surgery if it had stopped. She was adorable just the she was. She was my baby with a crooked smile.

In June, we noticed more progression. We had briefly consulted with Dr. Siebert in April/May and sent him pictures for him to review. When we took pics the weekend of July 4th, we could tell there was a difference. We sent them to Dr. Siebert who also noted worsening. I was now convinced that this is what we had to do. We set up an appt to meet Dr. Siebert (after multiple telephone calls) in early September. We flew up to Wisconsin to meet with him. We talked about the surgery more indepth and we made an appointment for surgery.

And, that, brings us to today.....

Little Miss Avery

Wednesday, October 26, 2011

How it all started

Monday, October 24, 2011

More on PRS

Avery's Adventure