During my pregnancy I remember being very unwell, writing in my journal, “there is something wrong with pregnancy, I know something is wrong with my baby”, at only 10 weeks gestation; proving that a mother always knows. At around 30 weeks gestation my unborn baby started to get chronic hiccups followed by trembling, lasting several minutes and several times per day. I begged doctors to run further testing, pleading something was wrong but it all fell on deaf ears. Baby Eric’s heart rate was strong and steady, my fundus was measuring right on time with gestation, so my concerns were dismissed. At 36 weeks gestation, I started having consistent and lasting contractions. After several hours I proceeded to the ER department, concerned I was in preterm labor. Stress tests were run, and the nurses dismissed me, asking me to come back the next day for a follow up. While running a stress test the following day after food, juice and changing positions, the doctor was called as Eric didn’t have enough variables in his heart rate. I can still hear the Doctor yelling at the nurses asking why I had been sent home the night before demanding them to get on the phone with the hospital in the next community and to make sure a neonatal team was on standby, because they would be expecting a new Mom tonight. I was terrified, as all my worst fears were coming true. I was transported immediately, where I was met by a huge medical team. Everything was moving so quickly, myself and my partner were in shock and terrified not knowing what would come next. After an emergency ultrasound, Doctors explained that we had a very tiny baby with a great deal of amniotic fluid and something was seriously wrong with my baby; exclaiming that an emergency C-section would have to be performed. At this point we didn’t understand what this could mean, or why I had so much amniotic fluid. This was why my fundus was measuring well and everything went undetected. My partner and I were living every parent’s worst nightmare. Thinking back, I recall crying and holding my boyfriend’s hand as they carefully lifted a very tiny completely blue baby hand from my stomach. When we all saw my breathless baby like a flip of a switch the operating room became chaotic. Doctors were in a mad rush trying to resuscitate my baby, who had no vitals and wasn’t breathing. I was hysterical, so the doctors sedated me. My boyfriend was becoming increasingly agitated, so they demanded that he leave. I can still hear the nurses voice yelling at him, “you are taking up time we need to save your baby, you need to trust us and cooperate, OUT”, before the anesthesia flushed into my system.

After several hours I regained consciousness, family and doctors surrounded me trying to explain what they knew about baby Eric. They explained Eric and I would have to be immediately flown out to a larger center where they could properly care for my baby. Eric couldn’t support his own airway, he couldn’t suck, swallow, or move due to hypertonic muscles. He was having several seizures, all pointed to brain damage. At this point they had no idea what was wrong and could not conclude whether my baby would live. I recall saying I wanted to go see my baby and trying to get up out of the hospital bed, but the nurses told me I couldn’t see him, because I had just gone through a major surgery and he was too sick; we both had to rest for transport. When the nurses told me that, I flipped, telling them that come hell or high water, I was going to see him. I got as far as swinging my legs over the bed before I vomited everywhere. The nurses finally clued in that I was going with or without their help, so they laid me back down and wheeled me to the NICU to see him. I couldn’t even see my baby for he was so small and leads encased his body where he layed. They had his chin strapped up as every time it fell backward it would close off his airway leading to oxygen desaturation. They didn’t have the resources to intubate a baby at this hospital, so they decided to fly us out to Vancouver Children’s Hospital.

The nurses and doctors kept me sedated for the first 4 days of being in Vancouver as every time I came to, I would start screaming for my baby and they would find me wandering the halls trying to find my baby. On day 4, they finally let my partner wheel me down to the NICU to see him. It was the scariest place I had ever seen. Rows and rows of incubators filled with tiny preemies with all kinds of machines keeping them alive. The nurse told me Eric was the biggest baby they had at 4 lbs. 11 oz. This gave me false hope, believing if he was bigger than all the others, he must have a fighting chance to survive. After several days of Eric in the NICU covered in wires, leads, and intubation tubes we still had no answers as to why our baby was born so ill. Eric was having up to 35 or more seizures per day, he was poked and prodded many times a day and underwent several tests; spinal taps, MRI’s, CT Scans and had several neonatal experts tirelessly working to find the cause of his many issues. Any parent who has been through this knows and understands the emotional roller coaster that comes with this experience. One day they tell you that your baby is improving, and they say he will beat this battle, and the next you’re told he wouldn’t survive the next 24 hours telling you to say your goodbyes; waking up all hours of the night, if you sleep at all, to pump your milk for a baby that isn’t there. You are walking to the hospital in the middle of the night just to be next to him because you can’t bear to be away. You are begging, pleading to God for your child to be healed. After 3 weeks they finally let me have skin to skin cuddles and started teaching us how to care for him. This isn’t the way it’s supposed to go; you’re supposed to go to the hospital, have a baby and take them home, right? Instead you walk around numb, you don’t remember the last time you ate, or showered, you just feel like you’re having an out of body experience, as if you’re watching this happen to someone else. You’re scared to leave their side for even a minute because what if it’s that minute that he leaves this world and you’re not there?

We wouldn’t allow for anyone else to care for him, we did all his range of motion therapy, we did his bath time, and we did all his personal care alone because if a nurse or doctor touched him in a clinical manor he would be riddled with more seizures. After a month, the nurses started insisting we start taking better care of ourselves, so my boyfriend and I started alternating night shifts. My nights alone with him were my favorite, I would hold him all night and rock him. He would look up at me with his deep blue, soulful eyes and tell me all the secrets of the world. He had the oldest spirit I had ever saw, full of wisdom and love.

After about a month we had a meeting, and it was then that the doctors told us we had a failure to thrive baby, his cells didn’t migrate to the right place at the right time, that his cerebellum and brainstem were severely underdeveloped. The statistics 19 years ago was that one out of one million babies were born like this and they had yet to find out what caused the illness. Our baby couldn’t regrow the parts of his brain that didn’t develop. He had gestational arrest at 32 weeks, he had scoliosis, spina bifida occulta, epilepsy and severe brain damage. Our child would never move on his own, suck or swallow or be able to interact and that he would most likely die of aspiration pneumonia. He would live his life in hospital more than out. I have worked with special needs adults with this type of quality of life, I could play the tape to the end, and I knew hanging on to him would only be for selfish reasons. I understood that my baby was in pain, I could see in his beautiful blue eyes, as I said before, a mother always knows. It was at this time Eric’s father and I decided to sign a” Do Not Resuscitate” order. It was without a doubt the single hardest thing I have ever done.

We called our family to let them know of our decision and if they wanted an opportunity to say goodbye to Eric, they would have to travel down to do that as extubating was set for a week away. The doctors were certain he would pass away shortly thereafter. The family gathered, and we had our son baptized, pictures were taken, everyone had time alone to say what they needed to Eric, and he was extubated. Eric surprised us all; he just kept right on breathing, and he could support his airway after all. The hospital put us in a family room with our son, so we could spend as much time as we could with him in a less clinical environment before he passed.

Within 2 weeks, it was clear this child was a strong fighter and wasn’t ready to give up quite yet. We had another meeting and it was decided we would take him home. We wanted his big sister to have time with him and show him what a home was like. We took a 2-week crash course on neonatal nursing. We had to learn how to do his lung physio, how to suction him, and how to work a feeding pump and so much more. Eric was brought home February 10,1999. We did his 24-hour care until March 9th when he took a turn for the worse. He was diagnosed with aspiration pneumonia. This left me in a panic; I wasn’t ready to let him go, and I wanted him sent back to Children’s Hospital and be treated. We had an amazing Doctor who came to the hospital and took me for a walk to discuss why we made the DNR code and why we made the right choice for our son. I took my son home that day knowing we were running on borrowed time. His breathing became very shallow, he turned blue from lack of oxygen and on March 11, 1999 at 3:15 am our darling boy went home to be with his creator. The year following is a fog, I remember very little. I was deeply depressed but I knew I had to keep moving forward for my daughter, she needed me. I know she was hurting too but I was so consumed with my own grief, that I couldn’t reach out to her, I couldn’t handle both her grief and mine. My daughter and I have had to take a lot of time since to heal together. With that being said, the pain of losing a child is not something that you can run away from or attempt to forget; I relive my sons small time on this earth every single day.

Fast forward to 2005, I became very ill. It took 13 years for me to find out I had Chiari 1 Malformation and EDS and another 3 years too learn I too had Spina Bifida Occulta and Tethered Cord. I started to learn all I could on these conditions and joined many support groups. I was reading up on all the different types of Chiari when I came across Chiari Malformation type 4. It was described as one of the rarest types, when a baby is born with an underdeveloped hind brain or cerebellum. WHAT?! Did I just stumble across the reason as to why my son was born sick? Did I just stumble across the name of the disease that took my son from me? I printed out the info for Chiari 4 and Eric’s medical info and took it to my Doctor. The doctor and I had a long discussion and he agreed this was what my son had all those years ago, I just don’t think they called it Chiari 4 back in 1998. I was relieved to know, but angry. It took 18 years for me to find out what had happened to my darling baby and that was after all, genetic. They ran genetics on Eric but told us it was negative. Little did we know then that h-EDS was what I had and that they do not know the genes that cause it. I also learned many of us suffer from the MTHFR Gene where our bodies reject folic acid and B12, two vitamins I had always been deficient in and it can cause neural tube defects in babies.

In closing, I would like to say, no parent should have to wait 18 years to find out what took their child from them. As a parent, no matter how your child passes, you will blame yourself. I had to work through some pretty hard moments and learn to forgive myself for this unknown genetic disease that not only took my son Eric, but now has also made my oldest daughter Tricia ill. This is unacceptable to me. This is why it’s so important that we raise awareness and educate our doctors, so no mother or father has to wait 18 years to understand their child’s conditions or death. This is way the work that WTF and Chiari Bridges does is so very important to me and why I am always asserting that we be tested for all comorbid conditions. Rarely is Chiari just Chiari, so please take the time to undergo all the proper testing for all the comorbid conditions.

 

Eric Michael Nault November 28th, 1998 – March 11th, 1999.

Thank you for taking the time to remember my dear Eric with me,
Amy Schmalz

I had a rough journey with these conditions and I am sharing it to help show how complex we can be and how much we need the medical community to step it up a notch (or ten)! I grew up in Denmark, where I lived when I was diagnosed and had my first surgeries.

I exhibited various pains already from early childhood. As very young child, I would scratch big wounds in my head to my parents’ great frustration. I also suffered from headaches at a very early age, but my older sister had done the same, so when teeth correction helped her it was also hoped it would with me – and it did. Then started the pain in my back, shoulders and arms and that pain slowly moved upwards and developed. I was sent back and forth between physios and rheumatologists but all I got was scoliosis and hypermobility. I was told it was nothing to worry about and just do some physiotherapy. I was in a bad shape when I finished my teens and despite trying, I couldn’t really manage a job. At one point, I was seeing a chiropractor for misplaced hips and he wanted to check the x-ray that the public system had done of my neck and which was deemed clear. Here I had my first “real” diagnosis, Klippel-Feil malformation of c2-c3, which I was then told, could not cause any problems and was common (which it absolutely isn’t).

Years passed by with various periods of severe pain flares, flares that felt nothing like the pains I had before. But no doctor was really believing me. I had a spontaneous collapsed lung a couple of times in this period and ended up with surgery for this (I woke up under this surgery which later also turned out to have a significance). At 25, one day I had a sudden and severe onset of symptoms – a pain in the back of my head feeling like two stabbing knives. This did not resolve and after several attempts with various medicines, that I only got sicker from, I finally saw a new rheumatologist whom again treated me with harsh accusations of laziness and psychological imbalance. I can assure you he was the one bringing on my tears that day, despite the extra severe pain I had been in for weeks. I was placed in the care of the hospital physios and after a while, it became clear to them that there was something really wrong and they got me to see another rheumatologist, who in turn took their word and referred me for an MRI. I had only just turned 26 when I was diagnosed with Chiari 1 Malformation and Syringomyelia – in my full spine.

I did a bit of internet research as information in Danish was very sparse and realized there was a certain number of bad outcomes due to something called Ehlers-Danlos Syndrome, Retroflexed Odontoid and Basilar Invagination. I asked my neurosurgeon, who was supposed to be the best in Denmark at this point, about these things – he claimed I didn’t have any. However, he did agree to refer me for Ehlers-Danlos evaluation. Here I was told I did not have that either. However, I was bordering on a similar connective tissue disorder called Marfan Syndrome, which they still could not diagnose me with due to my heart and eyes not being faulty. I had my first decompression surgery in December 2006. It was rough. I reacted badly to anesthetics and to the morphine and I also lost a lot of spinal fluid. I could not raise myself up the first month which I thought was normal. Slowly, I got better, and imaging showed my syrinx shrinking. Two and a half years later, though, I started experiencing dizziness and nausea and though my first surgeon didn’t believe me, imaging finally showed a big collection of fluid outside my spinal cord originating from a hole in the duraplasty used to close after tonsillar cauterization at my first surgery. I tried talking to the surgeon about concerns of Klippel-Feil and instability, that I had read about, but they would not hear of it and said that for now they would just focus on this issue. So, this was repaired, and I moved to Spain with my boyfriend at the time. I was placed on a disability pension from Denmark and that enrolled me in the Spanish public healthcare. I did, however, in the meantime follow up on my concerns and contacted a specialist, who had written about the Klippel-Feil and Chiari connection, and he straight away stated I had some severe issues with my odontoid and needed it removed and my neck fused to my skull. My first meeting with a surgeon in Spanish health care came up and he just looked at my imaging two minutes then stated my problems were way bigger than Chiari and Syringomyelia. He also diagnosed a severe retroflexed odontoid and Basilar Invagination – so severe he had a hard time understanding how I could breathe, let alone walk. But given my reasonably good condition, he opted to postpone these surgeries as they are big and not without risks.

A couple of years of enjoying the benefits the climate change gave me (and likely putting my head in the sand) went by but then I could no longer ignore the fact that I was getting worse. I was in a rough period with other matters of life, so it took a while before I realized I couldn’t escape the changes in my body. I started losing weight amongst other things and after a quick detour of fear of stomach cancer, I finally realized that everything that was going on was related to my brainstem compression. So, I went back to the neurosurgeon. He ordered some testing but before it could be done, I ended up admitted urgently after I stopped breathing one night. From here started a roller coaster. I didn’t feel right about their suggestions and the surgeon that was going to operate didn’t feel very secure himself even. I ended up getting transferred to a private hospital in Barcelona that calls themselves a “Chiari Institute.” Had I known what I do now, I would never have paid the fee for a filum release, but the doctor claimed this was what I needed and well… It was worth a shot in this urgent situation. He then sent me home, claiming I was cured. I didn’t feel right and breathing through the night was still a problem, so I started sending my imaging to experts around the world and working on getting referred to another hospital in Spain’s public health with higher expertise. All these experts claimed I wouldn’t have long to live unless I had this odontoid approached.

An American expert, however realized I had even more going on and that my gut feeling about the first Spanish hospital was correct – when I confronted them with these things they backed out. He also explained to me why he thought I indeed had this Ehlers-Danlos Syndrome too. Fast forward, long and rough fights with health care and the Danish system that refused to take any responsibility despite the first doctor who didn’t see a bone poking more than a centimeter into my brain and almost crushing my brainstem, another public health Spanish doctor who was mortified they had diagnosed me like they did in Denmark and changed my Chiari 1 diagnose to a Chiari 1.5, I finally found some Spanish doctors in private care, that I would trust to take on my case – and that my parents could just find the money for, through a loan on their house. Ideally, I would have gone to this doctor in America, but price and decline didn’t allow.

October 2016 I finally had a partial odontoidectomy and a fusion, which beyond doubt saved my life. It was a rough ride, for both me and the surgeons. They had to deal with complications related to my anatomy, to the mess the first surgeon in Denmark had left – he had indeed damaged my muscles more than I ever knew – and to the problems relating to the soft tissue. I do know they did a great job, but due to all the mistakes, how complicated my case was and is, I am unfortunately not done. I have ongoing issues and though some of these could have been avoided with the right approach from the beginning, some are just the way it is with these conditions.

I hope that my story will inspire other to take a step back and get better investigated – by real specialists – before letting anyone start cutting. Also, I hope it will serve to see how much we need the medical community to step up and keep up to date with research. These are serious conditions and doctors all over the world are literally playing with our lives. Please help spread awareness – educate yourself and others and ask for raising the standard of care for these complicated conditions.

 

Zona McGee was blessed with a vibrant and beautiful little boy on July 2nd, 1993. She named him Ryan Andrew and fell in love with his sweet face the second she first held him. He looked just like her! Her husband, Kevin, and daughter Crystal, eight-years old at the time, were over the moon as well.

Zona had been battling a genetic kidney disorder her entire life, causing both of her pregnancies to be considered high-risk, so when her second delivery and birth went well, she was elated. She counted her blessings and relaxed into the day-to-day tasks of being a young mother. Her life was happy, and she adored her children very much.

By her beaming account, Ryan was a gregarious and charming little boy. “If there was something to explore, he would be all in it,” she told me. He had more energy than she knew what to do with and she kept him busy with stimulating activities and adventures. He was sweet, kind, and loved to make people smile, especially his sister, with whom he shared a unique bond.

Watching her children grow into responsible young adults made Zona immensely proud. She had many wonderful memories of her family through the years. Because her kidney disease is genetic, and other family members suffered as well, she had worried that her children may inherit the gene, but neither did. Ryan was a very bright, energetic, healthy child. Throughout his childhood, Ryan’s well-child checkups always received A+ reports.

However, when he was 15, his physician noted an incidental finding of minor scoliosis. Because Ryan did not complain of pain, the doctor decided to just keep an eye out for future changes. Ryan’s teenage years were happy. As he matured, his high energy settled down, and he became more introspective. He often spent his free time gaming on the computer, broadcasting on his YouTube channel, playing guitar, and enjoying life with his friends and family. Music was a major part of his world. He loved everything about it: listening, writing, and playing. He often shared his songs and favorite bands with his proud family.

Ryan was a good student and took a local job after graduating from high school. He loved working and earning his own money. By all accounts, Ryan was a completely normal, functioning, and on-target, young adult. He was doing what most recent high school grads do – living life, having fun, and trying to decide what profession he might go into.

He was also heavily involved in organ donor awareness. Although Zona had been doing remarkably well for years, during this time, her condition began to rapidly decline, and she was put on a kidney donor list. She had a calling to act and started a blog, which led to a passionate fight to spread awareness about the importance of donating organs and tissue. Ryan fought alongside her and made the decision to become a donor himself. Little did they know, Ryan’s decision would end up saving many precious lives, including his own mother’s.

In May of 2013, Ryan began experiencing minor, intermittent headaches that were uncomfortable, but not debilitating. Zona made the logical assumption that Ryan was not wearing his glasses often enough. She continued to encourage him to wear his glasses, but the headaches became more severe over the next month. He visited his doctor who also believed it was due to his eyes, and advised Ryan to take Tylenol for the “migraines.” Stress was also considered, but the doctor was not a bit concerned.

Sadly, glasses and Tylenol did nothing to prevent or relieve the pain. His headaches were constant and progressively painful, making it difficult for Ryan to function. He was in agony, but he tried to minimize his suffering as to not “burden or stress out his family.” The doctors assured them that “nothing serious” was going on with him. The doctors were horribly premature in that assessment of Ryan’s symptoms.

One Friday, during a particularly bad flare up, Zona became very concerned that Ryan may have been suffering from a sinus infection and planned to take him to a walk-in clinic that following Monday. He never made it to that visit. On Sunday, May 12, 2013, Mother’s Day, Ryan was stricken, out of the blue, with an unbearable headache. He also complained of a stiff neck and collapsed in the bathroom. Zona and Crystal, who both heard a “thud” found Ryan unresponsive on the floor, and rushed him to the hospital.

They waited anxiously, for tests to come back, wondering if Ryan’s symptoms pointed to meningitis. The doctors mentioned that he, “May have a brain tumor”, before all the results were back. The family was terrified. However, after an MRI scan and lab results were completed, the doctor came in and told Ryan that “luckily” it was not a tumor or bacterial brain infection, but that they had found a Chiari Malformation.

Zona anxiously queried, “A what?”

Her question was ignored, as her child was an adult. She asked again, but the doctor turned from her and explained the test results to Ryan directly. He told Ryan that a Chiari occurs when the brainstem becomes herniated, but they could easily “fix” it with brain decompression surgery. He also told him that unless he agreed to surgery, his headaches would worsen, and he would just keep coming back to the E.R. He was presented with consent forms and was informed that they wanted to do the surgery the following morning.

Ryan had never dealt with illness or pain and he was terrified. After consulting with Zona, who felt that they should take some time to get more information, Ryan made the decision to undergo the operation. He just couldn’t bear the pain any longer; it was that debilitating. They were promising him relief and his symptoms were so severe, he trusted them and signed the consent forms. Zona was beside herself with worry. She thought to herself, “We just found out that he has something I have never even heard of, and they want to saw through his skull? I need more time!”

But she didn’t have time. She also did not have the respect of the doctor simply based on Ryan’s age. This infuriated her, as while Ryan was over 18, she felt that his family should be able to have their questions answered as well. But she didn’t fuss. They were coming to prep him, so she hid her fear and frustration to be strong for her son. When they wheeled the gurney away, she had no idea she would never see her son the same way again.

During Ryan’s first surgery, a temporary shunt was placed in an attempt to drain excess cerebrospinal fluid. When that failed, the surgeon made the call to do decompression surgery. Ryan went into this operation a very healthy and fit young man, but he came out with obvious signs of brain damage. Though it was clear that Ryan wasn’t well post-op, his family never again saw the surgeon who performed his decompression. There was no follow-up.

Over the next few months, Ryan was rushed to the E.R. on several occasions due to cyclic, intractable, vomiting along with severe head and neck pain. During these dozen-plus visits to the E.R., he was turned away multiple times and labeled “drug-seeking, weak, and dramatic.” This was a slap in the face, as Ryan was advised to blindly have the surgery to prevent him from returning to the E.R. This painful irony was not lost on Zona, and it only added to her trauma and confusion.

Ryan was having seizures, yet he was told he was faking them. When Zona protested, she was told by a nurse entrusted with Ryan’s care, “Your son is not having seizures. What is wrong with you? Do you want him to have seizures?”

In all the E.R. visits, there was ONE brain scan. The family was told the surgery was successful and whatever was going on, if anything, was completely unrelated to his decompression surgery at their hospital.

On the last visit to this particular hospital, the chief neurosurgeon refused to treat him neurologically and ordered a psychiatric evaluation instead. After speaking with Ryan, the psychiatrist said, “I do not believe you are crazy, but you are a bit of a wimp.”

Zona was livid and chased everyone out of his room. She then immediately took Ryan to another, smaller hospital. It was obvious to the triage nurse that Ryan was in serious trouble. He was gaunt, having lost 30-plus pounds in three months. He had nystagmus, and his vital signs reflected the pain and distress he was experiencing. Scans showed brainstem slumping and his neck, literally, had no support. Zona was told that “too much bone had been removed,” and that he needed emergent intervention.

The doctors recommended immediate surgery to correct the horribly botched decompression. However, they suspected that he had meningitis, due to a fever, so they wanted to confirm and aggressively treat that before opening him back up. They began I.V. antibiotics and Dilaudid.

Again, Zona helplessly waited by his side for more test results. She was slightly relieved that there was finally a team of people looking after her child who believed them, but as she watched her child dozing from the pain medication, she barely recognized him. He was thin, with hollow, sunken eyes, and his weak, frail arms were drawn to his chest. Hands clenched in fists, he laid in a semi-fetal position. She wanted to know how this had happened. It had been a surreal, awful three months, and she wondered if there would be enough time to save him. Tragically, there was not.

Ryan suffered a fatal seizure the following morning that collapsed his brainstem, and he never woke up. He was pronounced brain dead, August 11th, 2013.

After Ryan’s death, it was discovered that he did not have an infection at all. According to an independent attorney’s assessment of Ryan’s medical records, there were at least nine opportunities for the health professionals, whom Zona trusted, to save Ryan’s life. The investigator called Ryan’s treatment barbaric and inconceivable. He, like all of us, want to know how this young man was so callously discarded and left to suffer until his untimely death. That question will never be answered. It is incomprehensible how the “professionals” who did have contact with Ryan, not only shunned him, but covered up evidence of medical injustice in order to protect their establishments, surgeons, and other health care workers.

Ryan’s severe, post-decompression, decline was obvious. Ryan was aware that he was in critical condition. He knew he was not going to survive. Before he died, he told Zona, “Make sure everyone knows what happened.” She did that and more.

Zona wanted the world to know who Ryan was and about the loving gifts he left behind. The medical establishment failed Ryan and his family, but he remains a true hero. Upon his death, several families received the gift of life through Ryan’s organ donation-including his mother, Zona. The day after Ryan died, she was in surgery receiving her child’s kidney.

There are times when Zona, naturally, wondered what she could have done differently, but the answer to that is simple: Without advocacy and awareness, hindsight is 20/20. There was nothing more she could have done. She tried everything in her power that she knew to do at that time. Because this was being reiterated by the doctors, she had faith that he was in good hands and that he would recover fully. There was no playbook she could consult on how to advocate for her child. She was in a surreal state of shock, disbelief and fear. She had no frame of reference to show her that the medical professionals in charge of Ryan’s care were terribly wrong, and negligent in the very least. She had to believe the doctors whose opinions and advice we are taught to trust. After all, doctors are the ones who have the medical degrees and they know best, right? No.

From the time Ryan was decompressed to the day he died, Zona made several calls to get Ryan help, but nobody would listen! Zona’s desperate attempts to alert the medical staff of Ryan’s worsening condition were to no avail. Nobody helped! Nobody cared! Nobody listened.

Zona took the pain from this unimaginable nightmare and turned into an unrelenting drive to educate other families who are caught up in the trap of medical injustice. She became a fierce advocate for patient safety and rights with the hope that no other child will suffer the way Ryan did. She also helped parents navigate the medical system so that they may learn from her experience. She vowed to work feverishly to bring about awareness and authorized a documentary about Ryan’s life and struggle with Chiari Malformation.

On Sunday, May 14th, 2017, Mother’s Day, Zona McGee, succumbed to metastatic lung cancer that she acquired from the anti-rejection drugs she was given to save Ryan’s kidney. Her death is a tremendous loss to our community. Her family and friends miss her more than any of my words can express.

Zona’s worst fear was that Ryan would be forgotten and that her promise, to let everyone know his story, would end with her life. I promised we will never let that happen. We never will.

Rest in peace, beautiful angels.

Please support Zona’s Visions:

Zona’s Blog Zona-Life On The Waitlist

Ryan’s Awareness Page: Ryan’s Voice Chiari Patient Awareness

Please support the documentary Writing For Ryan and view the documentary trailers and share the website link as well.
www.chiaridocumentary.com

Gianna Soares
Writing For Ryan
Updated 01-21-2018
For the exclusive use of Chiari Bridges, as per Zona’s request.

My introduction to Chiari malformation I (CM1) begins in 1994. I had been married about 7 months and we had just celebrated our first Christmas together as newlyweds. Shortly after the new year, I developed a bad headache that eventually evolved into losing my eyesight in one eye. I went to the eye doctor, who immediately sent me to the hospital. I was diagnosed with Pseudotumor Cerebri and Papilledema, which are known to often accompany Chiari (co-morbid conditions). At the time, we were told that it was likely due to a virus. I had five failed lumbar punctures and finally a successful sixth in radiology, was given Diamox, and the problems went away. Nothing was ever said about Chiari or an abnormal MRI. I also had no idea that I could or should get a copy of the MRI from the hospital, so I could keep my own records. I wasn’t even given any reason on why it might be necessary. I trusted my doctors and they helped resolve the problem with my sight. Little did I realize that it was only the beginning and I was in for the fight of my life!

From 1994 until 2005, I had few further significant issues. I continued to have headaches which I treated with Excedrin and ringing in my ears (tinnitus), which was generally attributed to the aspirin in the Excedrin and sinus issues. In January of 2005, I started having jaw pain. I saw a number of dentists and doctors who couldn’t figure out the problem. I eventually ended up seeing a doctor specializing in pain management who indicated he thought it was Trigeminal Neuralgia (which is another co-morbid disorder of Chiari, but its connection wasn’t made known to us). I was sent to a neurologist, who pointed out I had a 2cm (20mm) herniation, which he said wasn’t enough to worry about, but it was a Chiari malformation. Again, he was the doctor, so we just trusted that it wasn’t something to worry about. The pain worsened:  it started lasting for longer periods of time and increased in both intensity and frequency, so I went to the ER on the advice of the neurologist for pain relief. When I arrived, the neurosurgical group that I had an appointment with had left word for me to go to their office, so I could see them. Since my appointment wasn’t for another several weeks, we were thrilled to get in so fast. We were also told I had Trigeminal Neuralgia and that Chiari wasn’t related and that Chiari couldn’t kill you; although they informed me that I would need surgery. I was scheduled for a decompression surgery almost immediately and thought I was cured. The neurosurgeons indicated that a 2cm (20mm) herniation was quite significant and that I was “in good hands.” The decompression was somewhat successful in that it resolved some of my symptoms, but the relief was short lived.

I stopped taking the Gabapentin for Trigeminal Neuralgia but began having trouble with balance issues and nobody was sure why. I was told that the Chiari had nothing to do with any of this and that I was “just lucky” that all my conditions were minor. My surgeon considered Microvascular Decompression (MVD), but said I was “too tight” and the surgery wouldn’t be a good idea. In January 2007 and November 2007, I had rhizotomies performed to deaden the nerve. The rhizotomy only worked for about six months before the pain returned. I had a repeat rhizotomy in November 2007 and that has been successful to date. I was still having a lot of symptoms (that I now know to be Chiari symptoms) but they continued to assume them to be due to the Pseudotumor Cerebri, even though I didn’t have my pressure checked or any sign of a papilledema. In June 2008, I had a Ventriculoperitoneal (VP) shunt put in. It was ligated (tied off) in July 2010 since I had lost weight and the symptoms had switched from what was presumed to be high pressure to low pressure symptoms. Due to my new low-pressure symptoms, they tried several blood patches in an attempt to repair what was assumed to be a leak, even though it was never found on any of the testing. Initially, the blood patches worked well, but over time the blood patches were less effective, and I started getting headaches again.  Eventually, the doctors gave up on blood patches as they weren’t helping the headaches and finally, I stopped getting headaches (which we later found out wasn’t uncommon for those who have had long-term CSF leaks.

Despite my lack of headaches, I started having neurodegenerative problems: trouble maintaining consciousness, hypersomnolence, severe balance problems, bouts with confusion and cognitive changes. My neurologist became convinced that I needed a second decompression. He discussed my case with my neurosurgeon who initially didn’t think that another decompression would help. He was convinced to perform the surgery and I had the decompression in January 2012. The decompression was very successful for 23 days. After that, I declined rapidly. Over the next year, I developed multiple lung infections, which they presumed to be from my history as a smoker, but in reality, it was due to dysphagia. In January 2013, I was admitted to the hospital for yet another lung infection and by May, I was given a feeding tube. My wife was brought into a meeting with my neurologist where he said I needed to go to a nursing home and that my death could be imminent. I went to the nursing home and did better than they expected. Instead of dying at the nursing home, I improved and was released to go home a month later. I continued to improve enough to have the feeding tube removed that July.

Once home, my condition continued to decline. My wife continued researching and we decided to go and see a Chiari specialist since her research indicated it was the only real way to proceed, especially with a difficult case. In June 2014, we met with one such expert who was able to explain why the first two decompressions failed. Ehlers-Danlos Syndrome and Craniocervical Instability were two of the missing pieces to my puzzle. It was an eye-opening experience and finally, my issues made sense. We discussed several options for surgery, and eventually settled on a date, October 30, 2014. I had my third decompression and this time, a spinal fusion. It was a wild success! Many of my symptoms were resolved immediately. While it was not a cure, it certainly helped me substantially in restoring many functions and my quality of life.

However, in September 2015, I went into a coma while hospitalized for a reduced state of awareness (which coincided with weaning off the Decadron) and the local doctors said it was another failed decompression. In October 2015, I had yet another MRI. While going over the radiologist report, my wife noticed something none of my doctors mentioned, it stated that I had severe Intracranial Hypotension. My wife sent my MRI images to a leak expert and my NY neurosurgeon for further assessment.

In January 2016, I was in another hospital across the country having imaging for the known CSF leak. After the testing was done, a leak was found in my lumbar spine and a location they felt was suspicious on my thoracic spine (where I had old stress fractures and incredibly thin dura, believed to have been causing leaks). There were also bone fragments next to the fractures, so the doctor double reinforced my spine in that area and performed a dural reduction surgery in parts of my thoracic and lumbar spine. I got better until August 2016, when I started experiencing symptoms of a CSF leak. Upon consultation, we decided a blood patch would be the place to start and it resolved my symptoms quickly.  As of August 2018, the blood patch has continued to keep me from leaking and no leak symptoms have occurred.  While I’m going to be at risk for leaks, and likely leak periodically due to Ehlers-Danlos Syndrome, I will take the results I’ve seen thus far.  It’s also interesting to note that while I’ve had a number of unsuccessful patches, this time the post-patch recovery protocol was different in that I laid flat for 2 hours post patch, then 3 days lying flat except to go to the bathroom and eat.  I’m convinced that this protocol helped immensely, as the weight of the CSF Is much greater when upright thus increasing the chance of a leak.  Also, a blood patch doesn’t end the leak repair, it merely starts it.  Once the clotting effect has finished, the next stage occurs, which includes tissue growth to repair the opening.  With Ehlers-Danlos Syndrome, this process is often diminished and requires longer than the normal recovery time, which is why I believe many of us have had failed patches.

I am still continuing to heal, and likely will never be returned to my old self.  I have been discharged from physical therapy as of December 2017, however I still exercise every day for at least an hour.  I know that this is a key part of my healing; there have been a few occasions when I was unable to do my exercises for a few days I notice difficulty in doing my daily activities.  In addition, I will not likely be able to work as a paid employee ever again, however, I have been able to provide some help to a variety of people.  I enjoy helping others and this works well as if I have a less than optimal day, I can just let anyone who needs my help know that I won’t be available to help them.

My recovery hasn’t been without trouble, as I returned to the hospital once, in the spring of 2018, for what was presumed to be a gall bladder problem.  Since I’ve suffered issues with kidney stones, it’s not surprising to me that I have a lot of gall stones.  I suspect it has to do with some of the gastrointestinal issues that hEDS brings, but there is nothing definitive.  After 2 days of pretty significant pain, the pain subsided and nothing more came of it.

Overall, there have been a number of positive outcomes and I wouldn’t change the decision to have my third decompression & fusion.  This has granted me the ability to lead a life, which while not “normal,” is fulfilling.

I am not, and never will be, completely healed. Many of my symptoms have resolved to the point where I can tolerate them and at times, don’t even notice them. While there is no cure for Chiari or the Ehlers-Danlos Syndrome causing it all, there is more healing possible. They are difficult disorders for many reasons and one of the biggest issues is the way it presents itself; for each person, it can be entirely different, making the diagnosis very difficult. I will always have to be monitored for leaks each time the symptoms present themselves, but for now, I find myself thankful to be alive and so very lucky to have the support I do, especially from my wife, my hero!

*Updated August 2018

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