This is part 2 of Marian’a journey, click here for Part 1.
After some genetic testing, we eliminated the most common, Cruzons Syndrome, so we proceeded with some more testing.
Mariana had Pfeiffers Syndrome which is very rare, and she had the more uncommon mutation within Pfeiffer Syndrome.
This was a surprise and a new set of problems. Thankfully she had a very, very mild Type 1.
Now, we had to see the bone spine doctor, the bone arm doctor (because at Children’s there isn’t just a bone doctor), we saw the feeding doctor, and sleep doctor. So we added five new doctors to our list since Pfeiffers came into the picture.
The best way I can describe Pfeiffer Syndrome is that it has to do with the body producing extra bone. My understanding is that you are born with this excess of bone, but the bone doesn’t keep growing with time. Although, I have heard about a kid with Pfeiffer Syndrome that broke a bone and new bone started growing in that area, enough that it affected his mobility.
This excess of bone causes many problems. Most people with Pfeiffers have Hydrocephalus because the fluid gets blocked by this difference of bone structure. Mariana had Chiari Malfomation because she had extra bone by her neck that was forcing a fluid to get into her spine. Like most people with Pfeiffers Syndrome, Mariana has had breathing issues because the anatomy of her face is different and so her airway is smaller.
Many people with this syndrome also seem to have swallowing issues and are on feeding tubes. The kids on feeding tubes have to have a nurse come in to their home every day to clean out the tube so that it doesn’t get blocked. We were lucky that we didn’t have this problem since Mariana’s case is so, so mild. Also the plates on the skull often closed up really early (Craniosynostosis). Other places Mariana has had bone fusion due to the extra bone growth are: On her neck (just right where it doesn’t affect her movement), on her left elbow (right where it only affects her mobility a small amount), and she has fusion in one of her teeth (but the dentist thinks that when her new teeth come in they will come in “normal”.) Some kids have fusion in other parts of their body.
Pfeiffer Syndrome can cause vision problems and other problems, but thankfully we have been freed from all of these. The list goes on… the minimal surgeries the kids with Pfeiffer Syndrome receive are, shunt placement surgery, jaw surgery, midface reconstructive surgery, skull expansion surgeries, plus a surgery any time the shunt fails. For us the additional surgery has been the Chiari Surgery. But, there is a greater list of surgeries for a large number of kids with Pfeiffer Syndrome.
I’m the CEO/President of ‘Born a Hero’; a nonprofit organization that was created to spread awareness and is fighting for answers and ultimately a cure for Pfeiffer Syndrome and six other cousin syndromes that share similar characteristics in the FGFR1 and FGFR2 mutation.
I have found over 34 health conditions that are associated with Pfeiffer Syndrome. That is one of the reasons this Syndrome is so challenging, because there are so many tough challenges it can cause; there are always problems, and there are so many unknowns. Disturbingly there is pretty much nothing known about this Syndrome.
The lack of information is ridiculous.
Most of my knowledge about this Syndrome comes from a support group on Facebook that I am involved in. I basically learn from other moms what to look for based on what has happened to them. Otherwise everything else seems like a surprise.