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.
 

My Informal Medical Training

Being a stay-home parent can be tedious. Most of my days are spent cooking, cleaning and in car pool lines. Not a great deal of social interaction or intellectual stimulation. And, then, bam! something happens to Amanda and my world is rocked off its axis.

I can look at these events in two ways. First I feel badly for my daughter. I hate that she seems to have an endless series of medical problems. I wish that she had a typical life. I mourn for the 14 year old who should be telling me off and talking on the phone all day - not spending 6-8 days a month at the doctor's office or hospital. A month in our lives is different than most folks, that's for sure!However, when my little pity party is over I take a deep breath and embrace the challenge.

This is one of these weird examples where being the mother to a child with special needs suits me. Sure, I get tired and frustrated with everything Amanda has to go through. But to be completely honest, I get a sense of satisfaction from the research and planning involved in coordinating her medical care.

My informal medical training began before she was born. At my second ultrasound the doctor said grimly, "it looks like Tetralogy of Fallot" with no other explanation. As soon as I got home from the appointment I grabbed the Merck Manual and looked it up. Ever since then I've made an effort to learn as much as I can about what is being discussed in regard to Amanda's disabilities and proposed treatment. I don't want to subject her to any procedure unnecessarily. My first question is typically,"how will this improve the quality of her life?" If it won't make a significant difference to her health or happiness, I won't agree to the procedure.

Over the years I've mastered a great deal of medical terminology. I've had to - at this point Amanda has twenty-two separate diagnoses. We started with cardiac terms and moved into neurological disorders. By now I've got a lot of orthopedic lingo down.... Amanda has had scoliosis, pronated feet and ankles and (my favorite new word) brachymetatarsia. Brachymetatarsia means that one of the five long bones of the foot (the metatarsals) is abnormally short, resulting in a shortened toe. Last year I had to learn all about hip surgery and liability law when she broke her hip on school property.

This has been our craniofacial year. Craniofacial issues concern "the skull, face and jaws". Amanda has what her physicians have always referred to as "facial anomalies" due to her genetic syndrome. Her ears are low on her head, her upper jaw is narrow, her lower jaw is small and recessed and she has a "beak-like" nose. She tends to stick her tongue out. We never worried about these things because we considered them superficial. Now, however, complications are arising from her facial structure.

The roof of her mouth (palate) is  high and narrow. It makes it hard for her to chew and eat. The small palate that worked fine for an infant also now obstructs her breathing. It prevents her from being able to retract her tongue into her mouth, which creates another set of issues. Naturally there is an incomprehensible medical term for everything except a high palate - for instance, a large tongue is called macroglossia.  First she will have a surgically assisted rapid palate expansion and an uvulopalatopharyngoplasty (no wonder they shorten that to "UPPP"!)

A plastic surgeon will cut the roof of her mouth and an orthodontist will insert a palate expander opened to its maximum width. At the same time the surgeon will remove her tonsils and some of the back of her palate that is blocking her airway. I think sometimes doctors and surgeons forget that patients and/or parents aren't familiar with the procedures they describe. I read online that UPPP  typically requires three to five procedures. That is something I wasn't told and need to ask about at our next visit. Another reason it's important for me to do my homework.

And, if that isn't enough she has micrognathia (small chin) which caused endless feeding problems as an infant. She aspirated (breathed in) food and had an abnormal, delayed swallow pattern. She narrowly avoided having a feeding tube. Mainly because I objected. The doctors were surprised. They said that most people were relieved to be offered a G-tube and be done with the feeding issues. Not me. I wanted her to eat real food.  To me eating is a big part of socialization. It's important to be able to eat a holiday meal with your family, have pizza with friends, go through a drive-thru on the way home. I had what I called "the Happy Meal goal." I simply wanted to be able to take her to McDonald's. A G-tube would not have (in my opinion) improved her quality of life. At this point the structure of her chin is also contributing to sleep apnea and other breathing problems. Correcting her lower jaw is now important to her health.

Her lower jaw will have to be expanded so that her teeth meet once her upper jaw is expanded. I need to ask how the surgeon plans to extend her jaw - with a bone graft from somewhere else on her body or with an appliance.  Hopefully after all of that her tongue will fit into her mouth without flopping back and blocking her airway. If not, then she will have to have tongue reduction surgery (ouch!) called a partial glossectomy.

You can tell from these photos that the thing that most improved Amanda's quality of life was her IPad!

She'll also have to have several ear surgeries as her hearing is deteriorating. Her low-set ears have narrow, downward sloping canals. This structure has resulted in chronic ear infections. Doctors have tried to insert ear tubes twice, but the extremely narrow canals made it impossible. Her ear drums have spontaneously ruptured several times. She has a very high pain tolerance - sometimes we didn't know she had an ear infection until we saw blood in her ears. As a result her ear drums have retracted causing "tumors" (called cholesteatomas) to develop. Looking that up was fun --- I hate when articles end with statements like "if untreated, deafness, brain abscess, meningitis, and, rarely, death can occur." I guess I have to agree to that surgery!

Unfortunately her narrow (stenotic) ear canals prevent easy removal of these cholesteatomas and her surgeon casually informed me that they would have to be "drilled" before the tumors could be removed. Well, that sounded painful and disgusting. I would have preferred the technical term, but I can't find one. I did discover that the surgery to removed the cholesteatomas is called either a intact canal wall down or canal wall up mastoidectomy, depending on the approach.

All of my new knowledge is the result of a meeting with the doctors at the Craniofacial Clinic at Children's Healthcare in Atlanta. One visit and they had pulled together an impressive treatment plan, involving three surgeons and  a dentist. Those facial anomalies that I considered superficial are impacting her health and need to be surgically corrected. The current plan is for her to undergo anywhere from four to eight surgeries over the next few years.

Again, I can look at this in two ways. I feel terrible that Amanda has to go through all of this. I detest the idea of surgery. I hate the chaos it causes for the entire family. On a positive note, I'll have a lot more things to learn as we progress.