My name is Brie Kearney and I am twenty six years old. I was diagnosed with Acrodysostosis type 1 with Glucose and Hormone resistance in 2016 by the John Hopkins Hospital Genetics team. I was nervous yet intrigued about this news.
Acrodysostosis type 1 is a genetic mutated gene bone dysplasia. It affects the bones as well as the cartilage in the body. I have type 1, which caused a mutation in the PRKAR1A gene.
My journey with AcroD has been interesting to say the least. Prior to 2016 I did not know I had it. I was under the impression I had Ellis Von Creveld Syndrome; which is a completely different condition. Due to this condition I have had twenty five different operations and procedures. As well as dying on the operating table.
Acrodysostosis has affected me since birth. As soon as I was removed from my mother; the doctors saw that my fontanels were open. The doctor could clearly see that my brain was exposed. That was the first sign that something was wrong.
I was diagnosed with hypothyroidism. My mother was told that that was the reason why my brain was exposed, but I now believe it was from AcroD.
At the age of two I had my first set of ear tubes inserted. After that, I continued having ear procedures every year to two years until now. In all I have had a total of 13 sets of ear tubes.
“Being in the nurses office became an everyday thing”
My childhood was different compared to any other child. Being different was not easy, always being looked at and teased just because I was different. The only thing an eight-year-old should worry about is what lunch to take to school; instead of worrying about whether he or she will see again.
I was diagnosed with a pseudotumor Cerebri six months after my eighth birthday. I can remember it like it was yesterday. I gradually started getting migraines, dizzy spells, and blurred vision on and off. Visiting the nurses office turned into an everyday thing.
This went on for three months before things rapidly progressed. My mom finally had it and took me to the eye doctor for an examination. Of course, we found out that it was a pseudotumor.
I was sent to the nearest hospital to be seen. Since my case was so rare the doctors that saw me used me as an experiment. They ran any test you could think of; MRI’s, CAT scans, X-Rays, different blood panels, everything.
In the end they knew they could not help me with the problem I was having.
After a while, my mom’s patience began to run out, and not even two days in the hospital she had me discharged.
Radical optic surgery
My mother did some research and found a well-known ophthalmologist. Before I knew it, I was rushed into the hands of Dr. Grant Liu from Children’s Hospital of Philadelphia.
I was admitted and scheduled for a spinal tap the next morning. Over the next back few days I had multiple spinal taps to see if the pressure in my brain would build up. After the third one they realized that it was not getting any better but worse as the days progressed.
On day three I was scheduled for an optic decompression of both optic nerves. Little did I know that I would go completely blind the night before my operation.
The operation was five hours long, and I learned later that I had a large volume of fluid behind both optic nerves. So bad that it could have easily filled up five decent size water balloons on each side.
It was a major operation that left me with stitched shut eye lids and vomiting for twelve hours straight. The next morning the stitches were removed, and my vision returned completely.
In between everything that was happening, I was also having trouble with my teeth. I had small teeth that were crooked and unaligned. They did and still look like baby teeth.
Because of the conditions I have, I had five different oral procedure and was in braces for eight years. To this day I still need work done to my teeth; I will need braces, jaw surgery, and implants.
During my childhood I had all my baby teeth pulled out by the dentist. My teeth never fell out on their own. The weird thing was that they all had roots to them.
Titanium rods in my legs
Growing up I had always had problems with my legs, hips, and spine; due to the AcroD of course.
I was severely knock kneed which caused severe pain in my legs, lower back, and hips. At the age of twelve I had my first set of fixators. This operation was also done in CHOP, and it was a five-hour procedure.
It involved metal, titanium rods and bolts surgically placed from the knee down. Both legs were broken in three different places below the knees. They both weighed separately twenty-two pounds.
A day after surgery I had an appointment with my specialist Dr. Davidson. I did not know this at the time, but he had to realign my hips to match my legs.
I had never felt so much pain in my life.
He attached a metal piece to each leg to ensure I would be able to stretch the bones the way he wanted them to be. He lifted my left leg and moved it in a certain way. In an Instant I heard a crack and the pain followed. He did the same thing to the right leg.
After he finished the pain subsided. I was already in pain due to the operation. The surgery was the easy part, living with those things for eight months was the hardest part.
“I had to learn how to walk again”
I went back to Dr. Davidson’s office seven months later to have the fixators removed. It again was another four-hour operation. I was put in leg casts for another month for the bones to heal properly.
After the eighth month I went back to CHOP and had the casts removed. Walking on my new legs was like walking on stilts. I had to learn how to walk all over again. My body had to readjust with my legs, as well as my legs readjusting to my body weight.
Everything was perfectly fine with my legs, I was adjusting to them and learning how to use them again. But once again something went wrong.
A year after my surgery I started having more and more lower back and hip pains. I knew something was wrong.
I was continuously staying home from school; some days I could not even get out of bed. The pain I was feeling was unreal. So I returned to Dr. Davidson’s office.
My mom and I found out that my left leg decided to go back to its original state. Which caused my hips to twist and tilt affecting my back. In the end he told us that I had to return to the operating room to fix my left leg.
So once again, I was back in a fixator for another eight months. I was scheduled for surgery in July and missed out on starting my eighth-grade year. I returned to school in March just in time for graduation.
Return of the pseudotumor
My high school years were just as bad. My freshman year I had contracted a chest infection called costochondritis.
Costochondritis is inflammation of the rib cage and breast bone. The bad thing about this was that there was no cure for it, and I was only given basic painkillers to help my pain.
It was something that kept coming back. I contracted it three times in one school year. It each lasted three weeks at a time; and because of this, I missed large amounts of days in school.
Sometime in between my freshmen and sophomore year my pseudotumor symptoms returned.
Next thing I knew I was going to visit a neurosurgeon from John Hopkins Hospital.
Dr. George Jallo was the man who saved my life for the second time. Instead of losing my eyesight, I started losing my color vision.
I found out that the pseudotumor had returned.
Before Dr. Jallo could do anything, he had to figure out the origin. I had an MRI done and found out that I had a Chiari Malformation type 1, which was causing all my problems from the previous times to these current ones.
My operation was scheduled two weeks later.
Spirit of the survivor
Surgery day was extremely nerve wrecking. I was prepped and ready to go.
I was going to have my skull cracked and stretched out to correct the Chiari Malformation. I was going to have a spinal shunt in my lower spine that traveled to my cervical spine back down to my bladder to release and maintain the correct amount of fluid in my brain.
The surgery went fine but after surgery was when things took a turn for the worst. Normally when any type of head surgery is given, anesthesia and a paralytic is given. A paralytic is a nerve blocker which helps the body remain still during surgery.
When the anesthesiologist was waking me up, he removed the tube from my nose too soon. I woke up but I could not raise my arms and legs. It felt like bricks was on each arm as I lifted them. I tried lifting my legs, but I could not.
Suddenly, I felt my feet begin to convulse. It went up from my toes and worked its way up my entire body. I convulsed and passed out.
When I woke up again, I was still in the OR. The anesthesiologist was shaking me to keep me up. I was told to stay up this time. They did not want me to become unconscious again.
Next thing I know I was in the recovery room. I was told later that my lips were blue and purple from lack of oxygen.
I died on the operating table that afternoon.
I found out that the anesthesia and paralytic reversed itself during my operation. Instead of the paralytic wearing off first, the anesthesia did. So, when I woke up, I was temporarily paralyzed from the neck down.
I was told that I flatlined and was brought back to consciousness. I was told 30 seconds, 60, a minute and a half, and even two in a half minutes. All I know is that it was long enough for me to lose oxygen to my brain.
I knew something was wrong because I had bad chest pain. That chest pain lasted for two weeks. I was in the hospital after my operation for five days.
I am proud to say now I am twenty-six years old, a college graduate, and apart from chronic ear infections that I will always have, I have not had any other episodes concerning my health in three years.’