A woman I work with compared Makenna's medical developments with the Discovery Channel show Mystery Diagnosis. I can see that. She also pointed out that we reached an answer many years before most of the stories detailed on that show! So for that I am eternally grateful. I think we found our answers quickly for a number of reasons.
A) We have a wonderful pediatrician who doesn't dismiss motherly concerns as over-reacting. She listens, evaluates and trusts my instincts.
B) I have a wonderful resource of parents at the gym in various medical practices. Not only have I been able to readily get second (third, fourth and fifth) opinions, I have been able to pick their brains on the best specialists in town, have someone who knows us personally look at the MRI's and x-rays, and most importantly, I've been able to have all of my questions answered. And if they didn't know, they'd find out. I am indebted to them for their help.
C) I'll admit that there is a certain Erin Brokovich, hunt for the truth- kind of passion that drives me and distracts me from the emotion of it all. Mix that with the internet and you are bound to come up with a few answers - and many more questions to ask!
I decided that a blog detailing Makenna's medical journey was the best way for me to keep everyone updated. Already, in just the past couple of weeks, I feel like it's impossible to keep everyone in the loop. There is just so much happening, so fast. Many of you have heard every detail, every phone call, every e-mail ,every doctor's appointment. Others simply know the rough details. This site is dedicated to following Makenna's progress and her amazing strength of spirit.
A) We have a wonderful pediatrician who doesn't dismiss motherly concerns as over-reacting. She listens, evaluates and trusts my instincts.
B) I have a wonderful resource of parents at the gym in various medical practices. Not only have I been able to readily get second (third, fourth and fifth) opinions, I have been able to pick their brains on the best specialists in town, have someone who knows us personally look at the MRI's and x-rays, and most importantly, I've been able to have all of my questions answered. And if they didn't know, they'd find out. I am indebted to them for their help.
C) I'll admit that there is a certain Erin Brokovich, hunt for the truth- kind of passion that drives me and distracts me from the emotion of it all. Mix that with the internet and you are bound to come up with a few answers - and many more questions to ask!
I decided that a blog detailing Makenna's medical journey was the best way for me to keep everyone updated. Already, in just the past couple of weeks, I feel like it's impossible to keep everyone in the loop. There is just so much happening, so fast. Many of you have heard every detail, every phone call, every e-mail ,every doctor's appointment. Others simply know the rough details. This site is dedicated to following Makenna's progress and her amazing strength of spirit.
Sixth Nerve Palsy - What?
Makenna was born March 27,2007. She was four weeks early, but weighed a healthy 5 lbs 3 oz. She passed all the tests at the hospital with flying colors and spent no time in the NICU. At about three months, I noticed that her eyes were not tracking from right to left. Since, I had amblyopia (lazy eye), I was thinking this might be a possibility with her. We were referred to a pediatric opthamologist who ordered an MRI of her brain. When I asked what they were hoping to find (or not find) with the MRI, I was told they were trying to rule out a tumor pressing on her optic nerve. That certainly freaked me out a little - ok a lot! She had her first MRI in August of 2007 at the ripe age of 4 months old. There was no tumor. At that point, that's all I really cared about, so I felt great relief when they told me she had a sixth nerve palsy. The sixth cranial nerve controls the abduction of the eyes. Simply put, her eyes don't turn out. If she were to try to look to the right, her left eye would turn toward her nose, but her right eye would stay straight ahead. Just the opposite to the other side. In the big picture, that seemed like a minor setback. She has since adjusted and adapted. She turns her head to look to the side. No one will probably ever notice...except the mean kid sitting next to her in fourth grade who will make fun of her for moving her head to read, or sometime when she is asked to do a field sobriety test. Those are the only two instances I have been able to think of - and I've thought about it a lot.
Monocular vs. Binocular Vision
The ophthamologist was also concerned that Makenna's eyes would not be working in cooperation with one another. At the time of the original diagnosis, she was just too young to make that assessment, though. So we were going to have to watch her closely. There was a little bit of hope (mostly from me) that because her brain was so young, it would "re-wire" itself. Time would tell. The good news was, that she already had a great team of doctors. She would have regular sixth month check-ups with both the eye doctor and the neurologist.
As Makenna developed, it was clear that the eyes were not going to fix themselves. She seemed to be looking with only one eye, but I couldn't say for sure which one it was. It seemed to change. Her vision was affecting her development. Makenna didn't even attempt to walk until close to 18 months. The eye doctor confirmed that she was only using one eye at a time, but that each eye was actually quite strong by itself. The eye that she wasn't using would drift to a crossed position. She went in for eye surgery at 19 months. They realigned her eyes by tightening (shortening) the muscles on the inside of her eyes. When she came home from the hospital that day, she was definitely crabby (I would be too). She slept it off. After a few days, not only did her eyes align nearly perfect, she got up and started walking. It was like night and day. It still gets me every time I think about it. It was like a second "birth day". She came alive after that surgery. Before, she had to spend so much energy just trying to focus and make sense of the double vision; that she just couldn't engage in eye contact. Until you've seen it missing and witness it's arrival, I'm not sure any of us really knows how much communicating we are able to do with our eyes. I am so thankful we found the eye doctor we did and that he didn't waste any time correcting the problem. She will most likely have to undergo the surgery again at some point, but it is well worth it.
As Makenna developed, it was clear that the eyes were not going to fix themselves. She seemed to be looking with only one eye, but I couldn't say for sure which one it was. It seemed to change. Her vision was affecting her development. Makenna didn't even attempt to walk until close to 18 months. The eye doctor confirmed that she was only using one eye at a time, but that each eye was actually quite strong by itself. The eye that she wasn't using would drift to a crossed position. She went in for eye surgery at 19 months. They realigned her eyes by tightening (shortening) the muscles on the inside of her eyes. When she came home from the hospital that day, she was definitely crabby (I would be too). She slept it off. After a few days, not only did her eyes align nearly perfect, she got up and started walking. It was like night and day. It still gets me every time I think about it. It was like a second "birth day". She came alive after that surgery. Before, she had to spend so much energy just trying to focus and make sense of the double vision; that she just couldn't engage in eye contact. Until you've seen it missing and witness it's arrival, I'm not sure any of us really knows how much communicating we are able to do with our eyes. I am so thankful we found the eye doctor we did and that he didn't waste any time correcting the problem. She will most likely have to undergo the surgery again at some point, but it is well worth it.
Scoliosis
Makenna seemed to be coming along fine. She was catching up developmentally and everything looked good. At the beginning of this summer, I began noticing that she was walking funny. She always moved fast, there was no 'walking' speed. Her right foot would always drag behind her turned out. The right foot never got in front of the left. I work with kids every day and see some pretty funky, turn out/turn in, all together weird stuff with their legs, so I was sensitive to the fact that I could be reading too much into it. But I also worried about the muscles and ligaments on the inside of her knee and ankle. Every step she took like that stretched them out. I know the current school of thought is that, in general, kids will outgrow some of their gait issues. Which is why I didn't schedule a special appointment to talk with someone about it. We had our 6 month follow up appointment with her neurologist coming up, so I would just wait to show him.
He responded fairly close to what I guessed. He asked me how long she had been walking. Well the answer was "less than a year". I don't think he felt I was giving her enough time to master the walk and that she would grow out of it. He humored me and ordered a second MRI to rule out any neurological causes for the discrepency. That MRI was done on July 15th of 2009.
The neurologist was out of town for the rest of July, so it would be awhile before we had official results.
A couple of weeks later, while Abby and Makenna were in the tub I noticed that Makenna's right rib cage was sticking out to the side. It looked very odd. So I ran my finger along her spine and immediately felt a curve. I really didn't think that much of it. I knew it needed to be looked at, but honestly had no idea how much of a beast scoliosis can be in someone Makenna's age.
We had an appointment with her pediatrician August 12th. She did x-rays and confirmed a 20 degree curve and thought we should do an MRI of her back to make sure we weren't missing anything. When I called the neurologists office to ask for results again, I informed them of the scoliosis and the MRI on the back. I needed to know the results of the MRI in case they could reveal something about the scoliosis. We were taking Makenna to a pediatric orthopedic specialist, and he would need to know if there was something else going on.
He responded fairly close to what I guessed. He asked me how long she had been walking. Well the answer was "less than a year". I don't think he felt I was giving her enough time to master the walk and that she would grow out of it. He humored me and ordered a second MRI to rule out any neurological causes for the discrepency. That MRI was done on July 15th of 2009.
The neurologist was out of town for the rest of July, so it would be awhile before we had official results.
A couple of weeks later, while Abby and Makenna were in the tub I noticed that Makenna's right rib cage was sticking out to the side. It looked very odd. So I ran my finger along her spine and immediately felt a curve. I really didn't think that much of it. I knew it needed to be looked at, but honestly had no idea how much of a beast scoliosis can be in someone Makenna's age.
We had an appointment with her pediatrician August 12th. She did x-rays and confirmed a 20 degree curve and thought we should do an MRI of her back to make sure we weren't missing anything. When I called the neurologists office to ask for results again, I informed them of the scoliosis and the MRI on the back. I needed to know the results of the MRI in case they could reveal something about the scoliosis. We were taking Makenna to a pediatric orthopedic specialist, and he would need to know if there was something else going on.
Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS)
When the neurologist called me back, he wanted to see us before we scheduled the MRI on her spine. It was all very strange. We weren't being given the results of the last MRI, but he wanted us to come in again. It became apparent when we got there, that he did not want to give us the results over the phone. Makenna has a rare genetic condition called Horizontal Gaze Palsy with Progressive Scoliosis. Basically, she has brain stem hypoplasia (underdevelopement), creating a cleft or ridge in her brain stem right at the nucleus of the sixth nerve. There are very few cases (reported) in the world. Best guesses are 80 - well now 81, I suppose. I have found two doctors aggressively researching HGPPS in the United States. One is at UCLA and the other at Children's Hospital in Boston. I have spoken with both of them and they have been very helpful and a wonderful resource. A simple google search using HGPPS will yield numberous scholarly documents and journal articles, but that's really all there is in the way of information. The research they have done is simply to identify the condition. There is no specific treatment plan. The most troublesome aspect of the condition is the scoliosis due to it's progressive nature. So, that is where we have turned our attention.
The Best Treatment for Progressive Scoliosis
Technically, Makenna would be in the "watch and wait" category of scoliosis, to determine whether it was self-resolving or progressive. However, in her case we already know it is progressive. It's just a matter of when and how fast. The surgical goal for these kids is to get them to about 8 or 10 years old and then insert an expandable growth rod. The major surgery only occurs once, and then every six months they make small incisions and expand the growth rod to allow for more growth. Obviously, this would be nice to avoid, but that may not be possible.
In order to control the curve and buy as much time as possible, the orthopedic specialist wanted to put Makenna in a brace which she would wear for 16 hours a day. She has already been fitted for this and we pick it up next week. However, the brace cannot correct the curve, it only holds it. And in her case, it might not even be able to do that.
After hours and hours (okay, days) of research on the internet, it has become increasingly apparent that the best method for treating progressive scoliosis in someone as young as Makenna is Early Treatment with EDF (elongation, derotation, and flexion) using the Mehta Method. That is a very complex description of what amounts to serial casting. The specific method of treatment was developed by Dr. Min Mehta. You can read more about her research and methods in this article: Growth As A Corrective Force in Early Treatment of Infantile Progressive Scoliosis. In a nutshell, the casting is done in an OR under anesthesia on a traction table. The curve is corrected slightly while the cast is applied. The cast stays on for three or four months depending on growth and then the do a comparison x-ray. When they apply the new cast, the curve is corrected a little more. This process continues until the physician feels they've reached maximum results for the particular child.
There are only 11 hospitals in the United States treating scoliosis with this method. The closest to us is Shriner's Hospital in Chicago. At this point, we have filled out our application for treatment and are waiting to hear from someone to set up a consulation. This certailny will not be a quick fix and will take some adjusting to get used to, but it is the best chance we've got.
Thank you all for your kind words and keeping Makenna in your prayers. I will start updates as soon as I hear from Chicago - which will hopefully be soon!
In order to control the curve and buy as much time as possible, the orthopedic specialist wanted to put Makenna in a brace which she would wear for 16 hours a day. She has already been fitted for this and we pick it up next week. However, the brace cannot correct the curve, it only holds it. And in her case, it might not even be able to do that.
After hours and hours (okay, days) of research on the internet, it has become increasingly apparent that the best method for treating progressive scoliosis in someone as young as Makenna is Early Treatment with EDF (elongation, derotation, and flexion) using the Mehta Method. That is a very complex description of what amounts to serial casting. The specific method of treatment was developed by Dr. Min Mehta. You can read more about her research and methods in this article: Growth As A Corrective Force in Early Treatment of Infantile Progressive Scoliosis. In a nutshell, the casting is done in an OR under anesthesia on a traction table. The curve is corrected slightly while the cast is applied. The cast stays on for three or four months depending on growth and then the do a comparison x-ray. When they apply the new cast, the curve is corrected a little more. This process continues until the physician feels they've reached maximum results for the particular child.
There are only 11 hospitals in the United States treating scoliosis with this method. The closest to us is Shriner's Hospital in Chicago. At this point, we have filled out our application for treatment and are waiting to hear from someone to set up a consulation. This certailny will not be a quick fix and will take some adjusting to get used to, but it is the best chance we've got.
Thank you all for your kind words and keeping Makenna in your prayers. I will start updates as soon as I hear from Chicago - which will hopefully be soon!