Most of us in healthcare have heard of RARE DISEASES, often that refers to so few a pts have been diagnosed with, that no pharma can afford to do the research to discover a medication to treat the particular health issue. Often Congress will pass laws to give a pharma generous tax incentives to find a medication to treat and/or manage the RARE DISEASE.
Poor little Emmalyn has been cursed with having been diagnosed collectively with several different difficult to treat health issues.
Emmalyn has been accepted at a clinic in Arkansas that specializes in treating pts like her, but she needs to raise $55,000. American Pain and Disability Foundation helped raise the $2,500 DOWN PAYMENT and if she can manage to raise enough – total of $55,000. She will start treatment in this clinic early next year.
This clinic has pts come to it FROM ALL OVER THE WORLD. I am told that Emmalyn’s family has to raise this money because her health insurance is provided by the state of Arkansas and because of limited openings at the clinic and all the step therapy and prior authorizations requirements of her insurance, dovetailing the two together is nearly impossible.
https://www.acmcrn.org/emmalyn-freeze
Emmalyn’s story begins with a diagnosis of Chiari Malformation with syringomyelia in 2012 at the age of 3 after a Chiari Decompression surgery to help drain the two syringes, one in her thoracic and a smaller one in her cervical region. Unfortunately, the surgery wasn’t successful, and Emmalyn went onto suffer many surgeries and procedures. It started with chemical meningitis, then being diagnosed with occult tethered cord in 2013, which led to the first of four detethering surgeries.
Emmalyn continued to suffer from headaches and leg pain for the next two years, which brought the third and final decompression surgery. Her thoracic syrinx had grown bigger, and they hoped to reduce its size. Her third decompression surgery happened in Nov of 2015. The decompression surgery seemed to have gone fine until December of 2015 when her grandma discovered a large bump on the back of her head that was squishy. She was diagnosed with a pseudomeningocele and that’s when things really went downhill due to the damage to her dura (lining of the spinal cord) which unleashed a series of devastating events.
Since Emmalyn’s original surgery in July of 2012, she has since endured three Chiari Decompression surgeries, a plate in her head to treat the Craniocervical Instability (CCI) brought on by a botched Chiari Decompression surgery, spinal fusion surgery throughout her cervical region, spinal fusion hardware removal, numerous infections, shunts, 6 CT Myelograms, 1 Cisternogram, several lumbar punctures, numerous MRI’s, blood patches, a fibrin patch, ICP bolts, anti-siphoning devices, EVD drains, numerous spinal fluid leaks from the back of her head to her lumbar, and because of her diagnosis of Ehlers Danlos Syndrome dural patches with muscle flaps and harvesting her own tissue, and this isn’t a complete list of all the procedures she has gone through.
Here’s Emmalyn’s story as told by her mother, Stephanie Freeze:
Currently, Emmalyn has four shunts installed and continues to have serious spinal pressure issues and serious side effects from the massive scar tissue in her spine. Emmalyn deals with 10/10 lower back pain, 10/10 back of the head pain every day of her life at the age of 13 and does not have full use of her left leg due to a tremor that developed and has to walk with a cane.
If all of this wasn’t enough, Emmalyn was diagnosed on November 15th, 2021, with Adhesive Arachnoiditis by an astute neurosurgeon in Rhode Island. The neurosurgeon let us know that she has serious cauda tethering with a syrinx present and massive scarring. She also has an arachnoid cyst in her lumbar area and also explained that the terrible tremor she has in her left leg, which requires her to use a cane, is most likely due to AA.
In June of 2022, her main neurosurgeon, made the decision that Emmalyn needed to undergo one more CT myelogram as leak symptoms were still on the rise. When the Myelogram was performed, they let us know there is an empty sac appearance to the distal thecal sac likely due to adhesions of the nerve roots. At this point the decisions were made that nothing should be done in the lumbar area unless absolutely necessary and that is when I started my research on Adhesive Arachnoiditis. When researching I realized how much had been done to Emmalyn’s spine that could have been avoided. I joined all the groups on Facebook and met wonderful people, including ACMCRN.org, that have been able to guide me through what this grueling and terrifying disorder that my 13-year-old daughter is facing.
I got in touch with the Tennant Foundation and started reading all the bulletins. I reached out to Dr. Tennant to see what his thoughts were, and he put me in touch with a doctor that could try and help Emmalyn. We have started medications to help her and have found out that she has intestinal malabsorption with opioids and that is why the meds were not helping her pain. The doctor put Emmalyn on Troque’s for medications so that they would help. We had MRI’s 2 months after being on the meds. The pain hasn’t really improved yet, but on the MRI’s the adhesions are improving and headed in the right direction that gives me hope.
Emmalyn has been through 51 brain and spine surgeries in her life. More than any person should have to go through and unfortunately is not doing well at this point. Our next steps are driving to California from Illinois on February 4th to see Dr. Schievink. We have to drive as Emmalyn cannot take the 5-hour flight, as it causes her too much pain. She will undergo a MR Myelogram of the full spine and MRI of the brain with and without contrast and seeing Dr. Schievink the same day on February 9th. We believe Emmalyn has another leak or too many CSF diversions as she currently has 4 shunts. We absolutely have to get these pressure problems under control, and I believe things will head in the right direction.
I have come to terms that my daughter has so many disorders that don’t have a cure and have met so many fighting this same battle. I advocate to other parents to please research, get all your questions asked and get many opinions. I am including Emmalyn’s published story, which she has endured 11 more surgeries since I wrote that story, and I am currently working to bring her story up to date. I am always here for anyone that has questions or may need to talk as this road is too long and hard to do alone.
Please read more of her story: The Emmalyn Freeze Story – A Chiari Warrior’s Journey (Updated) – Chiari Bridges.
Like many patients and parents of rare disease patients, Emmalyn and her family have traveled tens of thousands of miles in order to get answers and treatments for Emmalyn. They have flown on planes, which Emmalyn is no longer able to do, so now they drive in a car. They have had to incur the costs of hotels, food and drink, gas, and other incidentals. The cost of this is overwhelming for their family and they have had to rely on the generosity of friends and family. Would you consider giving a donation to the Sweet Emmalyn GoFundMe. Gift Cards can be sent to sfreeze02@gmail.com, along with any questions or comments you might have. The family does accept money orders and cashier checks.
Update to Emmalyn’s Story:
In the beginning of 2023, Emmalyn’s leg pain escalated, prompting Stephanie to seek solutions. She journeyed from Chicago to California for a specialized MRI and consultation with Dr. Tennant, an adhesive arachnoiditis specialist. The MRI unveiled a sizable growth in Emmalyn’s cyst, necessitating fenestration. This discovery led to another trip, this time to Durham, embarked upon on March 5th. On March 9, 2023, Emmalyn underwent a marathon 6-hour surgery. The procedure aimed to fenestrate the cyst, secure a shunt, and detether her lumbar spinal cord to alleviate leg pain. While it did alleviate lower back pain, the persisting symptoms included positional headaches and vomiting.
An infection on April 6th extended their stay, and although Emmalyn was discharged on April 11th, they didn’t return home until April 13th, amounting to a total of 37 days away. What was initially planned as a two-week endeavor was significantly prolonged due to circumstances.
Emmalyn’s health struggles persisted into April, prompting a return to Durham on April 22nd to consult her hematologist, followed by another trip on April 30th. Regrettably, her head pain endured. This led to a further trip to Durham on May 14th, as Hematology necessitated an additional appointment and referred her to Immunology. Neurosurgery aimed to address her severe head and neck pain.
An update on May 22nd from Emmalyn’s mom, Stephanie, indicated the need to reset Emmalyn’s shunt due to worsening pain. After weeks of unsuccessful attempts to adjust the shunt correctly, Dr. Grant sought consultation with the shunt manufacturers for a solution. Further trips were planned to Rhode Island and North Carolina for EDS pain management and comprehensive MRI scans of the brain and spine.
Despite their tireless efforts, Emmalyn’s condition did not improve. Dr. Grant’s consultations led to a high-stakes decision for a risky surgery on June 13th, with the goal of addressing tethering and cerebrospinal fluid blockage. This intricate procedure lasted around six hours. Complications necessitated an extended stay in North Carolina, beyond their initial expectations.
On August 10th, another procedure, a lumbar puncture, was conducted in a bid to uncover the cause of Emmalyn’s persistent head pain. Unfortunately, this procedure did not yield the desired results, prompting a MR Myelogram that revealed a significant spinal fluid leak. Surgical options are being investigated now.
Emmalyn’s relentless journey weighed heavily on her family, burdened by copays, medical bills, lodging, and travel costs. Throughout these trials, their spirits remained resilient as they yearned for Emmalyn’s recovery and her eventual return home, a goal they fervently hoped to achieve by the end of August.
If you find yourself moved by Emmalyn’s courageous battle and her family’s unwavering determination, consider sharing her story. Spreading awareness not only shines a light on the challenges faced by rare disease patients like Emmalyn but also offers a ray of hope in garnering support, both emotional and financial, during this challenging period. Your willingness to share her journey could make a meaningful difference and provide the essential aid that Emmalyn and her family need
Filed under: General Problems
Leave a Reply