Rare Disease United Foundation

 
April Edition

A Look At....


 




Pfeiffer Syndrome Type II & Jackson-Weiss Syndrome

 

Pfeiffer Syndrome is a rare craniofacial syndrome that is said to affect one in 100,000 people in the world. It is classified by multiple fusions of the skull, as well as a retruded midface. Children are usually diagnosed with Pfeiffer Syndrome soon after birth and it is then confirmed via a genetic test that checks for mutation of the FGFR2 gene, which is a growth receptor gene.

 

Children and adults with Pfeiffer Syndrome have to undergo many surgeries to survive. They frequently have to have CVR's, cranial vault remodels, in order to expand the skull and make room for the brain to grow. In addition, at some point in a child's life, she will have to undergo a midface extraction. The midface in a child with Pfeiffer's grows at 1/3 of the normal rate.

 

Some of the other characteristics of Pfeiffer are semi-fused toes, with a very large, broad, big toe, semi-fused fingers, hydrocephalus (water on the brain, also requiring surgery to correct), chiari malformation (brain herniates too far down, also causing surgery to fix), and various orthopedic anomalies. As well, children with Pfeiffer have a very narrow airway. They often need a tracheotomy in order to breathe properly.

 

Pfeiffer Syndrome is broken up into 3 types: type I, type II, and type III. Type I is the least severe and these children really require just the basic treatment for the skull fusion and possible midface advancement. Type II is moderate and these children will need some additional help and some additional surgeries. Type III is the most severe. These are the children that would pass away more likely. They have more airway issues and many different issues that Pfeiffer Syndrome can bring.

 

Jackson-Weiss syndrome is very similar to Pfeiffer. The main difference between the two is that the fingers are completely normal. The toes are still slightly webbed, but the fingers look completely normal. Jackson-Weiss is much more rare, with only maybe 5 cases known in the whole world. It is also characterized by the mutation in the FGFR2 gene.

 

Natali on Pfeiffer Type II & Jackson-Weiss Syndrome
 

 

Throughout my mother's whole pregnancy, she thought she was going to have a perfect, healthy baby. She did not find out the sex of her baby because her medical insurance at the time did not cover any extra ultrasounds. Back in the 90's, health care was completely different. There was not a thought in my parents' mind of having to raise a special needs kid. That all changed on December 15, 1995.

 

I was born on December 15, 1995 around 9:30 pm. As soon as I was born, the room fell silent. It was very clear to see that something was wrong with me. No one had ever seen anyone look the way that I did. I was born with no eye orbits whatsoever. My eyeballs would constantly pop out of their sockets. This actually happened for about a year before they finally stitched my eyelids shut.

 

Because no one knew what to do with me at the local hospital where I was born, the doctors decided to transfer me to Boston Children's Hospital, about an hour away from my home. I got to Boston Children's when I was about four hours old. Things really started to move quickly from there. I was diagnosed with Pfeiffer Syndrome almost right away. The hospital had not seen many cases of this syndrome, but they had seen enough to believe that it is what I have.

 

The doctors at Children's had suggested to do a major operation, in the hopes of maybe getting me to live for about three months. My mom of course disagreed because she did not want me to suffer more than I have to if I was going to have such a short lifespan. I spent the next week of my life just hanging out in the NICU. My mom told me there was a joke going on that I was the biggest baby in the NICU (10 pounds), considering all the preemies.

 

On Christmas Eve 1995, the doctors finally got a court order to do the surgery which would end up saving my life. By this point, my mom had already agreed on the surgery as she realized that I would most likely live much longer than three months. So that day I went into surgery. Everyone had a ballpark idea of what they were doing, but no one really knew for sure.

 

The surgery ended up taking seventeen hours and about ten surgeons were involved. They ended up having to literally take all the bones from my skull out and reshape them all. At one point, my brain was literally laying on the OR table. After they did all of this, I had a harness put on for hip dysplacia. As well, many of my other doctors decided to check me out while I was asleep anyways.

 

Christmas Day was the first time my mom got to hold me. I'm sure it was very exciting, but I don't remember a thing. I ended up spending the next 5 consecutive months in the hospital. I finally got to go home in May, only to come back for more surgery a month later.

 

At six months old, my mom brought me to a routine neurosurgery appt. to find out what the plan was for the next surgery, which I needed kind of urgently. What she found out instead was that I did need surgery, but not craniofacial. I had developed hydrocephalus, fluid on the brain. This condition could cause mental retardation, various brain abnormalities, high intra-cranial pressure, and in the worst cases, death! I needed a shunt, and I needed it now. Thankfully, I was able to get it just one week later.

 

After recovering a little bit from that surgery, I got to go back to the operating room for another cranio-vault remodeling/fronto-orbital advancement. Basically, this means that they removed the bones from my forehead and the back of my head, reshaped them, and attached them back with titanium plates. This surgery, I can by far say, is one of the easiest procedures. The doctors make sure to give me a lot of pain meds so that I was able to relax and just sleep and rest. I went home about a week after surgery and went right back to normal life, trying to meet developmental milestones with the help of early intervention.

 

The next major hurdle occurred at the age of 2 years old. For months my mom was telling many of my doctors that I stopped breathing when I slept. She said that she had tried to hold her breath as long as I would every night and she was unable to. Finally, my complex care doctor decided to listen to my mom and scheduled a sleep study. That sleep study would change our lives as we knew it. In addition to the sleep study, the doctors decided to do a ph probe study to see if I had reflux. The next night we were woken up, thinking we would get to come home. Instead, we were sent to the ICU. I had the worst case of sleep apnea Children's had ever seen, and on top of that I had really bad GERD (gastro-esophageal reflux disease). I spent the next week in the ICU while the doctors tried to figure out how to properly treat the sleep apnea. My mom refused to trache me because she did not want me to have another hole in my body. In the end, I was put on CPAP, continuous positive airway pressure, in order to get my brain to breathe at night. I was on the CPAP till my midface surgery at the age of seven.

 

I was able to get a break from surgeries for about five years. At the age of 7, the doctors decided that it was time for my midface advancement surgery. They wanted to do the RED (rigid external distraction) device.  My mom wanted me to have the standard midface surgery, where they move the midface forward slowly with 2-3 surgeries. She tried to petition the doctors and the hospital, but it just was not possible. The doctors won and in March 2003 I had surgery to put on my RED.

 

My experience with the RED is unlike with any other surgery that I had. Even now, 10 years later, I will never forget the pain that I experienced every time my mom or the doctors had to turn the screws. The way that the RED worked was we had to turn the screws on the sides of my face 2 times daily in order to guide my bones to move forward 1mm daily. The doctors tried to send me home from the hospital 2 days post-op because technically there was no reason for me to be in the hospital. Two days after that, I refused to eat, drink, etc. and went right back to Boston Children's Hospital. I spent the next 3+ months inpatient on the neurosurgical wing. Throughout this time, I became an expert at ripping the halo (RED device) off. I successfully ripped it off 3 times. This meant 3 extra surgeries to put the device right back on. Finally, in May 2003, I got to get the halo part of the RED off. I still had to keep the mouthpiece in for a few more months, before I could get that off. Thankfully, the RED experience was finally over. I ended up getting a total of somewhere between 65 and 95 mm of growth for my midface, and only required 1 midface surgery, rather than 2 or 3 like many children with Pfeiffer Syndrome have.

 

The next year, I needed to have another CVR/FOA, as is customary post midface. I had that surgery done in early April 2004. Then, we went away for April vacation from school and I ended up developing cellulitis, an infection in the bones. For me, the infection was in the bones under my eyes, right near my sinuses. As soon as I got home from  New Hampshire, I went straight to the ER at Boston Children's Hospital. Again,  I went back up to the neuro wing of the hospital and spent another 5 days on IV antibiotics in order to kill this infection. We thankfully got very lucky that the infection did not spread further, into my sinuses, or God forbid, into my brain!

 

I again got a bit of a break from surgeries, until August 2005. At that point, I had my first shunt malfunction. Shunt malfunctions are really common for children with hydrocephalus. I got really lucky that mine lasted 8+ years. I will never forget how scared I was in the ER during that time. They had wanted to do a shunt tap on me, where they put a needle in my shunt valve in my head and see if there is fluid. I heard “needle” and said no. I was very adamant that they were not touching me! They admitted me and that night around 9pm, after I was already sleeping,  I was woken up and told that we have to go do the shunt tap. I went into a full-blown panic attack. I was really scared that something would happen. It became the scariest thing ever. 

 

The next morning, I slept in till 8am, which is late for me. I usually wake up around 6 or so. A few minutes after I woke up, the Neurosurgeon on call came into our room and talked to my mom. I was so miserable that I kind of didn't listen or hear what he had to say. The consensus was that I would need surgery ASAP, and that my shunt really was not functioning at all. I went into surgery that morning. Rather than put me as an add-on, they put me as an emergency! After the surgery, I slept for about 2 days straight because of the pain of the surgery, but was able to go home again after 3 days in the hospital.

 

I had a series of 2 more shunt malfunctions in 2006. I had one shunt revision on January 3, 2006, which failed because the surgeon-on-call did not know that my shunt has to go at an angle, rather than the way that most children have them. I ended up vomiting every single night from over-drainage, until we requested that MY neurosurgeon put in another shunt. That was done on February 10, 2006. He put in an adjustable valve and it ended up lasting about 6 years. 

 

In 2009, I began having really bad headaches again. I ended up dealing with 15 months of chronic pain, with absolutely no relief. On August 4, 2010 I would have the surgery that would change my life as I knew it. The craniofacial team and my family mutually decided that it was time for another CVR/FOA. I was 14 years old, and I was running out of room for my brain. In addition, I was starting to realize that my forehead was too far back and that I wanted to be able to look better than what I did. I went into surgery thinking nothing of it. I was scared, as usual, but my doctors thought that I would be out by 2pm, and I had faith in them, since after all I never had a problem with them (besides their typical attitudes, they are surgeons after all). What would happen, would truly be something that we would never, ever forget. The screws that were put into my head as a baby, in order to keep my bones together, were supposed to be removed at the time of my midface at the age of 7. However, we had to switch craniofacial surgeons because the one that we were seeing at the time did not do the RED that I needed. As the surgeons were taking apart my skull, my plastic surgeon decided to go a little bit deeper in order to smooth out the bones that were sticking out a little too far, as is common with Pfeiffer Syndrome. Thank you God that he did that. Together, the Neurosurgeon and Plastic Surgeon went down into that area, and ended up getting a great surprise. They saw a lovely picture of my brain, and the screws that dove into my dura and were beginning to become a part of my brain. Obviously, these screws were not supposed to be there, so my Neurosurgeon began to take them out. He took all of them out and then closed my dura. Then, he got a lovely surprise, a bleed, and a big one! One of the screws was sitting on an artery. As he carefully removed the screw, the artery popped. In normal terms, I had a stroke. To this day, I have not regained all function from before surgery. 

 

The stroke took away from me all my memory. Thankfully that was really as far as it went after that surgery. However, I was about to start high school less than a month after this surgery, and not having memory would really be a big detriment. In total, I spent 10 days in the hospital after this surgery. I was draining too much fluid from the drain they put in, and not enough from my shunt. It took several days of challenging my shunt in order to get it to do the job of the drain.

 

I started high school at the end of August 2010. It was a rough time. I had a hard time being in 4 honors level courses while dealing with severe memory issues. I got through my freshman year by the skin of my teeth. I was struggling a lot academically and ended up accepting B's as good grades, because I just could not do any better.

 

At some point during my freshman year, I had decided to finally get the genetic testing done to see what I actually had. I was 14 at this point and was still diagnosed with Pfeiffer Syndrome just from symptoms. The genetic testing came back and I do not actually have Pfeiffer Syndrome. Instead, I have Jackson-Weiss syndrome. This syndrome is basically identical to Pfeiffer Syndrome, but the hands look normal. My mom has always said I have musical hands. I am the only one in this world currently who has Jackson-Weiss Syndrome!

 

In the middle of my sophomore year, I began having issues again. We ended up going to the ER in November of 2011 with shunt trouble. In the end, I ended up being admitted for 2 days while they tried to figure out what to do with my shunt. I ended up being discharged, only to return back a month later.

 

I spent most of December in the hospital. On December 12, 2011 I had an ICP monitor placed. We had all figured that I had extremely high ICP and we wanted to see the what the numbers were. Instead, we were shocked by numbers in the negatives. Thankfully, my Neurosurgeon still decided to go along with the original plan and did a shunt revision on December 16, 2011, just one day after my sweet sixteen, which was spent in the hospital.

 

The next Monday after the shunt revision was another day I would never forget. I woke up around 4am in extreme pain. I had an amazing nurse that night who was right there as soon as we called for her. She immediately paged Neurosurgery who was right there. I ended up starting to vomit profusely and no one knew why. They gave me Zofran, an IV anti-nausea med, and I was able to sleep sitting up, and only sitting up. Later on that day, I was in extreme pain and even asked for Oxycodone. I had not had narcotic pain meds in DAYS! The Oxy did not help me much. My mom and I were trying to watch a movie when I just literally could not move from pain. My mom did not want to leave me alone, and she tried paging the nurse. The nurse was tied up with another patient so of course we had to wait. As soon as the tech came to do vital signs, my mom bolted out of the room. She went and grabbed my nurse and told her “this is an emergency” and emergency it was! The nurse came in and called the charge nurse, who I've known forever, and they both basically came running in. My ICP went up to 90 (normal is 15-30), and I passed out. It was only for about a minute, but it was the scariest minute of everyone's life. Thankfully, I still had my ICP monitor in so the neurosurgery resident came in and removed a whole bunch of fluid from my head. This got me to become conscious again. The rest of the day was spent trying to get me stable again. My neurosurgeon spent the whole day up on the floor. He canceled everything he had planned because he was afraid that we would have to go back to the OR to get my shunt revised again. Thankfully, they finally got me stable with the aid of a manometer, a tool to get excess liquid off, and many, many pain meds. I got to go home from the hospital 2 days after the day  I passed out, with 10 total days spent in the hospital and one of them being my birthday.

 

I started having symptoms again of headaches in February 2012. The first thing that caused it was my shunt reset itself when I went up into the high altitudes. It reset itself from 4 to 1, a very, very big difference. In the end, we had figured out that all my symptoms pointed to Chiari Malformation. Chiari is when the cerebellum herniates too far into the spine and causes spinal fluid to not be able to flow properly. In the end, it causes brain damage and death.

 

During the summer of 2012,  I had begun experiencing really bad symptoms of Chiari. I had stopped eating because it was too uncomfortable. It had become very difficult for me to breathe properly, since the cerebellum controls breathing. I could not drink without choking. And I could not live without narcotic strength pain meds. Boston Children's had become increasingly difficult to work with, so in the end we had to trick the system. We ended up deciding to go to the ER in order to just get an MRI done to finally be diagnosed with it. We waited all day, but finally we got the MRI done. What should have been a 90 minute ordeal turned into a three hour ordeal. They had to add many, many extra pictures because the cerebellum was really herniated, the syrinx (overflow of fluid in the spinal cord) was too big, and there was a huge piece of bone in the way. We were sent home in shock that it was that bad and were told to make an appt with the Neurosurgeon ASAP.

 

I had started my junior year of high school on September 7, 2012. That was one of the hardest days in my life. I just knew I had to survive it somehow so I could go home and finally take some pain meds to get some relief. I only ended up going to school one more day, as my appt. was on the third day of school.

 

On September 11, we saw my Neurosurgeon. He basically scheduled us for surgery the very next week. He said we could not wait.  It had to be done. The day of surgery was a lot of drama. There was a lot of pain involved, but I was on a ton of Morphine, which helped me to just sleep and forget about the pain. As soon as I woke up, the pain was there and I was crying/screaming from it. The pain was unlike anything I had ever had before. I will never forget it.

 

The aftermath of the surgery left me with severe left sided weakness. We are still trying to work that out. It is tough, but PT 3-4 times a week is really helping a lot. As well, the memory issue has been triggered again. Again, it is getting better, slowly but surely. I am currently homebound status trying to recover still, but we are hoping and praying that I can go back and enjoy my senior year with all my friends!

 

Right now, I am still dealing with the aftermath of the Chiari. This will be at least a year long recovery, but probably longer. As well, we never know when the hydrocephalus will strike again. Craniofacial wise I am fairly stable. I have thought about some cosmetic procedures, but have decided against it. I am just trying my best to live my life the best I can!

 

Life is tough, but this is my story. Live life to the fullest no matter what. 

 

Rare Disease United Foundation


We are so excited to announce our new Community in Massachusetts. The Rhode Island Rare Disease Foundation was able to accomplish so much, we decided to start a chapter in Massachusetts. Each chapter is now a part of the Rare Disease United Foundation. Rhode Island will now be known as the Rhode Island Rare Disease Community and Massachusetts will be the Massachusetts Rare Disease Community. We are working on some programs that will change the lives of those living with a rare disease. We are grateful to work on behalf of the rare disease community. Look for a new Community in Connecticut and New York soon!


























                                
 
                                                                                           



 
                                     
                        
                                                                                         



Massachusetts Launch Party Hosted by The Manton Center for Orphan Disease Research

Come join us on Thursday April 25th, DNA Day, at Boston Children's Hospital to celebrate our new Community in Massachusetts. The Manton Center for Orphan Disease Research will be hosting a launch party on the second floor of Boston Children's Hospital from 2:30 until 5:00. There will be clowns and fun crafts for the kids! We look forward to seeing you there!!

RDUF Website

Our new website is www.rarediseaseunited.org. The website is still under construction, but will be done soon. We are looking forward to a more interactive and up-to-date website.
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