Natali – Pfeiffer Syndrome

Hi everyone,

My name is Natali. I am 16 years old and I have Pfeiffer Syndrome type II (later changed to Jackson-Weiss Syndrome) as well as multi-suture craniosynostosis. My journey with cranio began at birth. I will share it here and I will try not to bore you all.

The day I was born no one had any idea what was wrong with me. They saw me come out with no eye orbits whatsoever and everyone got scared.  I found out many years later that my mom called her parents, my maternal grandparents, after I was born and told them that she was okay but I died. No one believed I was going to live. My prognosis was only 3 months!!!! I was transferred to Children’s Hospital Boston when I was 4 hours old. Who would have ever thought that they would be the ones to save my life?!

And here my journey begins. Prior to me, Children’s had only seen 50 cases of Pfeiffer Syndrome. They immediately stabilized me and I was put into the NICU. The doctors realized that they could do a surgery that could prolong my lifespan. This surgery is what we now know as a CVR/FOA with several craniotomies and multiple other procedures done by other surgeons (19 hour surgery, 10+ surgeon, you tend to forget what happens lol). My mother was not told that the likelihood of this surgery prolonging my lifespan was 30%. She felt that there was no point in making me suffer through a surgery if I was going to die at three months old. Therefore, the doctors had to go through the court system to get permission for the surgery. I didn’t mind J I was just chilling in the NICU! At six days
old, I finally had this surgery. Afterwards, I was introduced to the wonderful world of 9N.

9N is the neurosurgery floor at Children’s. This floor became my home away from home and it used to be my favorite place. I used to prefer it over my own home! After my humongous surgery, this was where I spent the next 5 months of my life. We had many hurdles to overcome. Because of my Pfeiffer’s, I had a cleft palate. Because of this palate, I was unable to properly suck from a bottle. My mom and my grandfather (the other closest person to me, my dad wasn’t entirely involved in my life due to domestic violence) had to prove to the doctors that I was able to eat. They were finally able to prove this to them, after receiving a special cleft bottle for me.

My next hurdle occurred at 6 months old. I needed my next CVR/FOA. Well, we of course ran into a little problem. I had a bit too much fluid on my brain and it was causing a bit too much pressure to build up. So, I was officially diagnosed with hydrocephalus and a shunt was inserted. This first shunt lasted me 8 years because it was put in by the shunt guru J. I will always owe my life to this NS for all that he has done for me! After the shunt, it was back to the usual CVR/FOA. Boston always does these surgeries together and I am very thankful for that! The recovery was typical and I was home after about a month (I’m always slow in recovering).

We hit our next HUGE problem at around a year and a half. I was diagnosed with sleep apnea AND acid reflux at the same time! Needless to say, my mom now had to deal with an extremely medically complex child. On top of that, she was pregnant again. Anyways, this is about me, not my brother haha. So I went onto Zantac (which I am still on today!) and went onto CPAP.  My mom was given the option to have them trache me but she said, NO! So instead she had the time of her life, being awake all night long with me making sure I was breathing and that the CPAP was still on my face! After a while we got used to it and I got to enjoy a couple of surgery free years!!

At the age of 7, my family went through the most traumatic surgery yet. I have not heard one good experience with this surgery but it brings AMAZING results. The surgery is called the RED, rigid external distraction. This is when a halo device is surgically put in, in order to move the midface forward. The way to move the midface forward is by turning 2 screws on either side of the head. Shall I say OUCH!! After a three month stay in the hospital and 4 additional surgeries during that stay (because somebody decided to pull her halo off 3 times lol… the 4th was to remove the device), the midface was behind us and we could move on!

A year later I had to have another CVR/FOA. This is standard protocol for after midface surgery. So I spent another week in the hospital then came home. Then, you’ll never believe it… ANOTHER issue! I had gotten a black eye. This was not like the kind of black eye normal with this surgery. No, no, no I had developed a bone infection under my eyes on the plate that was holding the bone in place. So another 5 day hospital stay for antibiotics later, and I was good to go.

The next several years were pretty simple. I had several minor surgeries i.e. to put in an ear tube that fell out, or to take out 5 teeth. I did have 3 shunt revisions as well, but they were all routine and caused from the major FOA/CVR in which there was a lot of blood loss. However, August 4, 2010 was my next CVR/FOA. This is a day that I will never ever forget. What was supposed to be a 4 hour routine surgery, turned into a 10 hour emergency procedure. I got the FOA done, but not the CVR. Instead, my NS uncovered screws in my brain which he had to remove. Then, he discovered that while removing the screws, an artery popped in my brain. Needless to say, recovery from that surgery took a full 9 months. I still am not fully recovered, but I am proud to say that I am a stroke survivor (artery popping=stroke).

After surviving that surgery, I went off to high school. In December 2011, I spent my sweet 16 in the hospital. It didn’t faze me one bit and I was actually happy to do it. I had ICP monitoring done (which showed negative numbers!) and a shunt revision in 2 different trips to the OR.

Today, I am a happy healthy girl. My goal is to help others on this Cranio journey. It is very rough, but we can survive. As you can see, my journey is LONG but 16 years is also a long time. I will continue fighting through any and all obstacles that I will have to, in order to live a normal life. I know my options in everything and I pride myself in choosing what is best for me. Thank you all for reading my story.