Chiari Malformation (Kee-AR-ee): Chiari is a congenital anomaly in which two parts of the brain, the brainstem and the cerebellum, protrude through the opening at the base of the skull
Mason's Story

 

My son, Mason, was born 1 month premature, when he was born he was diagnosed with Pulmonary Hypertension. He spent 1 month in the NICU where he was attached to tubes, oxygen, IV's and nursed back to health. While he was receiving treatments and chest x-rays for his severely weakened lungs, the Doctors noticed that he had an abnormal curvature in his spine, it was then determined that he actually had 2 Hemi-vertebrae, meaning that he has 2 extra halves of vertebrae in his spine that cause a curve in the shape of an "S". During a routine CT Scan of his spine at 6 months old, a Doctor noticed that Mason had

a Chiari Malformation that was descending 12.5 mm into his spine. It felt like our world was falling apart, our son who was only 6 months old had gone through more testing and examinations then most people do in their whole lives and now he has disorders and anomalies that would inhibit him for the rest of his life.

Due to the weakness that Mason experiences in his torso, his feeling of being off balance and the physical developmental delays he had, Mason received months and months of Physical Therapy as well as Occupational Therapy. He now receives MRI's 2 times a year to keep track of his Chiari, Full Spine X-ray's for his Spine 2 times a year in addition to the many check-ups he has.

Because of the severity of his Chiari, Mason, is not allowed to play physical sports, has to be extremely careful not to have falls where he may hit his head and will be limited to what he physically is allowed to do. When you look at Mason you may not notice anything wrong, but, Mason has adapted to his physical limitations, he is unstable and knows his balance is wrong. It takes Mason much longer to climb stairs, a slide or even run.

At his last Neurosurgery meeting, brain surgery was discussed as an option, we are now in the process of getting a second opinion.

He amazes me every day; he doesn't let his limitations hold him back and tries to do everything that his friends do. Mason is one the happiest, caring & most sensitive little boys I know. We have a wonderful support group through family & friends, Mason feels love from everyone in his life, and he gives it back 10 fold.

Melanie Gaffney - Mommy

 

Updates
5/3/09
 We have been searching for a place that we felt was qualified and has enough chiari experience for Mason's 2nd opinion. After months of seraching, we think we have found it, The Chiari Institute. We are heading up to Long Island for 2 days of testing and evaluation in June. Please keep us in your thoughts, we are hoping to bring nothing but great news back with us!
   
6/29/09

It's been awhile since my last update. I can't begin to explain how busy we have been. I have also been torn with the idea of posting all of Mason's updates from our visit to TCI. But I have come to the conclusion that if it can help us raise money and awareness then I think sharing Mason's Story is something we should do. I hope that it not only helps us in our mission, but to let other parents and Chiari sufferers out there they are not alone.

In an email sent to family; this is a long email, here are some visiuals to help eplain even more click here

Hello

Well today was the big day, we got to the Chiari Institute at about 11:00 and just got back to the hotel at 6:45PM...we had an incredibly long day and glad it is over.

So before I go into all the details of the meetings....we didnt get any really bad news....

We did learn about things that were never brought up before, that were very interesting and about more appointments we have to make;

So his Chiari is the same it hasn't progressed or regressed. It is still considered a very "impressive" Chiari and is large and hangs down far. This isn't necessarily bad as long as he doenst start to show more symptoms. They did notice that his ventricles in his brain are a little "jiucy" meaning that he has a backup of Spinal fluid and contain more fluid than usual, which in turn means that the "tonsil" that hangs down, the chiari, is slowing the flow of the spinal fluid from the brain back to the spine. This is not good and needs to be followed very closely to ensure that it doesnt get worse. If it did, that would be reason for surgery....but not now...

There has been a bit of a break through in the world of Chiari, as of now, researchers have never been able to name a reason or a "why" to Chiari. But a Japanese Dr. that came to work at TCI 3 yrs ago has done years of research of the disroder & has its first line of "protocol". The size of the Post Fosteria (back part of the skull) seems to play a big part in the disorder. The smaller it is the larger the Chiari can be. Well, of course, Mason's is small in comparision to a "normal" person. He has a very large head (we learned only 3mm smaller than Sean, crazy), but the back part of his skull is smaller and flater. Not giving his brain enough room, thus it hangs down into his spinal cavity.

We learned that he has Spina Bifida in C-1 vertebrae, which is actually great. Considering his disorder. Spina bifida means that a piece is missing of your vertebrae, in Mason's case its the back part of C-1, the exact place that if he needed surgery they would remove giving more room for the tonsil to hang down. His body did it on its own, of course just a coincidence, but works in Mason's favor. Had he had a regular C-1 Vertebra, the pressure would already be unbearable.

Some of you know that Mason also has a Sacral dimple, he was born with this. It is a little "dimple" that is right above his bottom. While in the NICU they did renal ultrasounds of the spine and kidneys, to ensure that it did infact close and didnt go directly to his spine. It doesnt, but we did find out that he may have a "real" tethered cord. Tethred Cord is another part of the Chiari disorder. There is no real test to see a tethered cord, it is detrmined by a colmanation of things but in Mason's case he shows sign of this, and having the dimple shows where it could "really" be tethered. He also has Spina Bifida of the scaral vertebrae, Another reason for his leg weakness, or when he tells us his legs hurt, he curls his toes when he walks or runs. If he starts to have pain or more weakness, it will have to be reevaluated for surgery. It is most likely that at ome point in his life he will need surgery for it....but not now....

To put everone at ease, Spina Bifida is a scary word but it means part of your vertebrea(s) are missing, in Mason's case its the back part of 2.

He may also have something called EDS, he has some of the signs but we wont know until he is older...he has the loose hips, the very high roof of his mouth and a few other things. Nothing to worry about now...phew!

In addition to all of the Chiari Symptoms, Mason also has many boney anomlies;

* His C2 & C3 vertebrae are fused
* His left first rib is hypoplastic
* His 2nd & 3rd left ribs are fused
* He has Hemi-vertebrae at T4,T5 & T6
* His zyphoid process is very prominent (a bone that points out of his chest instead of down)

All of these may be contributing to the way he walks, and are the cause in the congenital scoliosis. These still have to be wathced closely, he is followed at CHOP's ortho for this. His spine curves the opposite way of a "normal" spine and kind of forces him go forward instead of straight. This is where we have to watch to make sure his spine and hips dont start to be affected, we also noticed that mason has one leg that appears to be shorter than the other, this could be caused by the curve in his spine which can make his hips tilted. Could be another reason we walks a little awkward. If if they are Ortho Surgery has to be addressed....but not now....

Mason does have low tone, and on his left side his tone is even less. This would be the weakness in his trunk (torso), and his arms and hands. He has to start Physical Therpay and Occupatinal Therapy again, the Dr. was surprised that he stopped at all. I would rather go to PT everyday to help push surgery back ....

The ENT thing from yesterday came up again, and now we have our answer. The Neurosurgeon showed us the MRI. Sean and I are dumb founded that no one else has seen this since Mason has had more MRI's then I can count. In the image the Dr. showed us where his tounge is, his airway and nasal passage. And then pointed at the huge white thing hanging in his airway at his throat...."what is that" i asked....it's a huge polip. It is hindring and making his airway much smaller. All these years he has gotten MRI's and had sedation and breathing problems, no one ever found this or suggested going to an ENT. So...he has to have that scoped and looked at.

So these are the next steps after our days of testing and meetings;

* First thing - Make ENT appointment (for polip)
* Second thing - Sleep Study
* Third thing - Make Ortho Appt. at CHOP
* Forth thing - Make genetic appointment (all of deformaties were present at birth, they will help us figure out why)
* Fifth thing - Get Mason back into Physical and Occupational Therapy
* Get another set of MRI's in 3 months to keep track of the fluid in his ventricles.


We spoke with this Dr. very candidly, I like to here the news straightforward and unsugar coated, The end result of all of our meetings and appointments was; "Mason will almost definitely need surgery(s) at some point in his life, there is no cure for what he has. Mason has many many boney anomolies in additition to the Chiari and tethered cord, and he will need to be maintained or "fixed" at some point. But right now we just need to watch very carefully for him to show signs of regression of motor skills, gross and fine, or tell us he is in pain. Once his quality of life is affected, that is when we will have to step in."

Good news - He can start regular pre-school (that has a good student/teacher ratio), we dont have to be sooo concerned about the falling/paralyzing factor, but he cant be in the moon bounce with other kids, one at the most. The falling, or up and down motion when you do those activities is just a repetitive banging of your skull on your spine, this may cause his chiari to fall down even more. Nothing that could cause whiplash either. But other than that, we dont have to put him in a bubble. We have to be careful still, but I dont have to hover like crazy.

I am so sorry this is so long, but this way everyone knows what went on and can ask any questions you may have. It also helps me go over everything in my head as well. I know that not everyone understands all this and it is hard to fully comprehend the severity of things if you cant see them on the outside. He will have to be watched closely and monitor for the rest of his life.

Thank you so much for your support, Mason is very lucky to have so many care and love him. I cant wait to get home so he can see his family and hang out with his little friends. He kept talkng about his friends while we were up here (I think he has more firends then I do, hehe). and thank you for those that could make it out on Saturday, it really meant a lot to me. I love you guys!

Love,
Melanie, Sean & Mason.

(ps - I started this email yesterday and fell asleep with Mason, sorry that it starts out as if I sent it yesterday...hahaha we are all beat)