Our SARPE Saga - The (Dead End) Road to Surgery

About a year ago I broke down after trying to get Amanda seen by the Craniofacial Team at Children's Healthcare of Atlanta (CHOA). I sobbed on the phone,"Please just look at my child."

 

After her lung collapsed in 2011 her pulmonologist suggested that she be seen by the craniofacial team at CHOA. I was beginning to feel a desperate need to at least have her looked at. I'd been trying to get Amanda in to see the team of specialists for most of her life. However we were always turned down - not by our insurance - but by the practice. It seemed that she somehow didn't meet their threshold for care, even though they had never seen her. So for 14 years we had struggled with breathing issues and feeding issues on our own.

 

Kevin realized how important this was to me and stepped in. He has an amazing ability to logically persuade people to do what they should do. He was able to determine what I call "the magic words" to get Amanda admitted for an assessment.

 

Once we were in we were seen by three specialists: a plastic surgeon, an orthodontist and a dentist. It was an oddly cryptic appointment. They all looked at her. They took photos of her face from several angles. They left us alone in the room while the conferred.

 

The plastic surgeon came back into the room and announced an extensive surgical plan for correcting Amanda's mouth and nose. Honestly, I was surprised. I thought they would just give her some sort of braces - especially after the orthodontist looked at her.

 



She has a very high, arched palate. I can't fit my pinkie into the roof of her mouth. It obstructs her breathing. It prevents her from being able to retract her tongue into her mouth, which creates another set of issues. For instance she is on a semi soft diet because she never developed rotary chewing or the ability to swallow completely.

I didn't realize the extent of what was planned until I read the follow up report from the team. I was surprised to read the words "complex set of issues."

First Amanda was scheduled for a surgically assisted rapid palate expansion and an uvulopalatopharyngoplasty (no wonder they shorten that to "UPPP")

A plastic surgeon was going to cut the roof of her mouth and an orthodontist would insert a palate expander opened to its maximum width. At the same time the surgeon would remove her tonsils and some of the back of her palate that is blocking her airway.

While this sounds horrific I could see the need for it. So we began our journey to craniofacial surgery.

It seemed fairly straightforward in April, 2012. Kevin tried to take Amanda for a sleep study to document her sleep apnea, but she kept pulling the electrodes off in her sleep. After a few hours they were sent home.

Next I took Amanda to the craniofacial office and they took an imprint of her mouth to build the palate expander. To do this they made up some pink plastic material and stuffed it into her mouth. She gagged horribly, but they got it done.

This is a palate expander

All we had to do then was wait for our scheduled surgery date in late May.  However, the night before our surgery we received a call that the surgery had been denied by Kaiser HMO.  Kaiser required a CT scan before approving the procedure.

Of course, Amanda won't hold still for a CT scan so it had to be scheduled under general anesthesia. Luckily, we got an appointment within a week. So we got up at 5 AM and headed to the hospital. After 5 hours at the hospital the anesthesiologist decided that she couldn't take the risk of putting Amanda under for the CT scan because there was an order for an MRI from the previous fall that had never been completed.

The irony is that the MRI was supposed to be performed under general anesthesia so the risks were the same, regardless of which test came first. Still, the doctor refused and sent us home. 

Then we had to go back to the neurologist who ordered the original MRI, get a new MRI ordered, approved and scheduled. Luckily the CT order was still good and I was able to schedule both tests at the same time. Amanda only needed to go under GA once that way. The first available date was at the end of August 2012.

The tests went well, but Amanda came back to the recovery room cyanotic.* Her lips, nails and the area around her eyes were all bluish gray due to lack of oxygen. She remained on oxygen for several hours until her pulse oxygen level returned to normal.

The surgeon was confident that the procedure would be approved. Amanda had to go through the awful molding process to create a new palate expander since the first one was either missing or they thought it wouldn't fit. (I'm not sure which was the actual reason.) This time Amanda knew what was about to happen and wanted no part of it.

The first time they tried to ram the molding material into her mouth she bit the technician.  The tech brought in back up to hold Amanda's mouth open and the two of them tried again. It was horrible to watch Amanda try to writhe away from them, choking and gagging. Finally they got it done.

Then, we waited for the approval from Kaiser HMO. We waited nearly 2 months for a decision.

Surprisingly, in late October 2012 the surgery was denied a second time. Kaiser HMO deemed it "cosmetic." Personally, I believe this was based solely on the fact that the doctor scheduled to perform the surgery is a board certified plastic surgeon and Kaiser unilaterally denies coverage for plastic surgery.

Now were are waiting the results of our second appeal. I've sent Kaiser the photos above as well as a video demonstrating her obstructed breathing. I have no idea if it will be denied again - or what we will do if it is.  
Note: the day I wrote this I got the final denial from Kaiser HMO in the mail. I'm not sure what we'll do now....I suppose that we will continue to watch our child struggle to breathe and eat  for the rest of her life.

*this link connects to a 38 second video of Amanda post-MRI - you can hear her obstructed breathing

For more on the proposed surgeries please read my earlier post, My Informal Medical Training.
 

Are We Alone?

Amanda has a genetic deletion (monosomy) on chromosome 15 (q21.2-q22.3). When she was first diagnosed in 1999 there was very little information on her chromosomal deletion. We were given one article starting with "There have been only four reports of deletions in the more distal 15q2 region,2-4 all involving severely handicapped infants." Looking at the chart two had passed away by their 3rd birthday. Discouraging news for new parents.

Amanda not only survived her third birthday, she thrived. Although her development was delayed she continued to grow and remain healthy. She started walking at 5 1/2. When tested at age 10 her development was on par with a typical 2-year old, causing her to be classified as "severely delayed." Still she was progressing and, most importantly, she was healthy and happy.

However, we have been alone this entire time. We have never met any one with a similar chromosomal deletion. There are no support groups when you are one of six known cases of a disorder. There are no marathons for financial support. No special T-shirts or car magnets. No one to talk to.

Amanda's life has been a series of unknowns. Will she walk? Will she talk? Will she need surgery for this or that? Without a network of other families we've just had to wait and see, always hoping for the best.

I worry because the ages of the survivors in the paper we were given were 15 months, 14 years and 18 years old. The article came out in 1990. The oldest would now be forty. I hope they are all well, with happy and fulfilling lives. But there is no way of knowing.

Recently I've noticed what seems to be a slight deterioration in Amanda's overall health. It is nothing serious, but enough to concern me. For instance, last fall she had several clonic/tonic seizures (grand mal). I wish I had someone who had been through this before me. Someone who could say,"it's okay - its just part of the syndrome sometimes." But I don't.

oxygen converter

Amanda has always had some breathing issues. Having been through multiple surgeries we know that she takes a while to come out of it after sedation or general anesthesia. We expect it and don't worry about her coming back to the room on oxygen - her pulse oxygen level in the low 80s. However, last year after hip surgery she unexpectedly crashed.

Doctors and nurses rushed into the room with a big machine. It turns out she had actelectasis - her right lung had collapsed. They moved her to pulmonary ICU. She got breathing treatments. Every few hours she had to go through percussive therapy. She was released after five days in intensive care. She came home with canisters of oxygen and a huge, purring oxygen converter.

Later that year, while sedated for a bone density scan, she became cyanotic three times in eleven minutes. I was in the room since no one had expected complications. Watching the doctor and nurses rush to clear her airway and provide oxygen three times was not fun.

Look at the bluish tint around her eyes -
even on oxygen she was cyanotic.
 

Finally, last week after a relatively short time under anesthesia (less than 2 hours) for a CT scan and MRI she returned looking cyanotic. Her nail beds and lips were bluish. The area around her eyes looked bluish gray. Her breathing was obstructed (like intermittent snoring) even though she was on oxygen.  There is something extremely frightening about listening to your child struggle to breathe. Breathing is so simple and fundamental. It's autonomic; it's not supposed to be a struggle.

I wish I knew there were others who had had these symptoms as well. I wish I knew if they are typical for her condition or if they may indicate something worse on the horizon.

I've always considered Amanda one of the lucky ones because she survived infancy. I assumed that if she made it past that critical period she would be more or less fine. Now, I'm starting to wonder what to expect. I wonder how those other survivors are doing. What are their lives like? Do they have the same symptoms? Have they had the same surgeries?

I've been on a quest to find other survivors for the past 3 months. I was thrilled to find two with close chromosomal deletions. One is a boy with a nearly identical deletion. Happily, he is also 13 - and luckily has far milder symptoms. He is walking, mainstreamed in school and very healthy.

Encouraged, I realized that where there was one there might be another. I researched every rare chromosome group I could find on the Internet. I believe that I have located four more individuals with a similar deletion.  That brings the number of documented instances of this particular chromosomal deletion to eleven!

I have no idea how old these children are or what they have been through. I've been able to get some contact information so I've reached out to them. Hopefully they will respond.

I hope I hear from the other families. I hope we can share stories and provide support for one another. I am so grateful that we are not alone anymore. Maybe we can get T-shirts or have a marathon some day.


Looking for a match to Amanda's rare chromosome deletion I've found the following resources:

http://www.rarechromo.org/html/home.asp

http://www.chromodisorder.org/CDO/

http://www.rarediseases.org/

http://www.rareshare.org/