Hello, my name is Holly. I am 45 years old, originally from San Diego, CA. I moved to Charleston, S.C., and fell in love with the South. A beach bum at heart, and birder, I have a soft spot for watching the sunrise and sunset. On March 28, 2024, I was diagnosed with GSD (Gorham Stout Disease). My medical condition began at the end of 2020 where I went for a routine dental exam and my x-rays showed trauma. The dental hygienist did not want to alarm me but stated if I had not been in an accident or hit with a baseball bat to the jaw then I had cancer. I was referred to an oral surgeon who wanted to remove a couple of teeth and biopsy the tissue underneath. My teeth were immaculate—I refused to believe that it was necessary. I went to a holistic dental facility which was highly regarded and recommended to me by a close friend. Unfortunately, they were unable to save my bottom teeth. I had eight extractions, and removal of a tumour. They believed I still needed radiation and had a form of cancer called follicular lymphoma. My energy and health quickly declined, and I moved in with my family mid 2021.  

Fear and uncertainty

I received an implantable venous access port in September 2021 and waited for chemotherapy to begin. This never happened. The oncologist that was supposed to treat me believed I never had cancer and refused to help me any further. I would continue to press the issue as my body never fully recovered and my jaw was continuing to fracture and deteriorate. My jaw had been locked for six weeks. 

The doctors that were supposed to help were no longer returning my calls or showing up for our virtual meetings. This was frustrating to not be taken seriously. I also had a nasty oozing of a yellow greenish liquid from my mouth that would spray out if pressed on. I checked myself into the ER and remained in the infectious disease unit for almost two weeks. At that time, I had my last two bottom teeth extracted and my jaw scraped. The technical terms are a mandible biopsy and a biopsy of mass in my neck. They had me on constant antibiotics given via iv in both arms. 

The best part of being in the hospital is my insurance covers speech therapy. I also had stage 3 trismus which makes my jaw lock up. The speech pathologist was awesome and taught me the exercises to unlock my jaw. No one educated me on trismus or prepared me for this ongoing issue. This was in November 2021, and I was discharged the day before Thanksgiving.

Diagnosis, recovery and continued hurdles

My face continued to change but I still ate what I wanted. I just had to be careful and cut it into smaller pieces. I was desperate to get back to my normal life and pressed for reconstruction surgery. I feared my jaw may dislocate and completely detach. March 2022, I had a mandibulectomy, tracheotomy, neck dissection (bilateral), free flap (left fibula), and placed a feeding tube through my nose. Simply put they cut me open ear to ear under my chin and took the bone from my leg, then cut the fibula bone into six pieces to create a new jaw which included a titanium plate for future dental implants. I found this absolutely fascinating and felt like a bionic woman. I used a walker for a few weeks while I learned how to walk, talk, and eat again. I was determined to get my health back on track.  

I recovered well and thought my nightmare was over with. Until summer 2023, one day I woke up with bruises around my neck and a little bit of swelling. It looked as if I had been strangled but at that time I had no pain. For the next year, my neck would consistently swell up with blood. My ENT had biopsied with no findings, but my pain was becoming unbearable. It had become exceedingly difficult to communicate and swallow. I continued to make doctor appointments. 

The unofficial term was that I was a medical mystery

I lost track of all my ER visits with useless prescriptions of antibiotics, pain killers, opioids, and temporary relief with the use of steroids. I finally asked my aunt and uncle to accompany me on a follow-up appointment. They are both retired from the medical field and were suggesting some options and concerns with my doctor. We decided to put two drains in my neck and scheduled surgery. The following morning my otolaryngologist at the University of Arizona Cancer Center, called me and said he was up late the night before doing research and stated he believed I had Gorham Stout disease (GSD) which they explained was a disease that affects the lymphatic system. Better known as vanishing bone disease. 

Of course, I had never heard of it before.

He encouraged me to do research and stressed this is an extremely rare disease, most doctors have never heard of. I was traveling two hours each way to see him, so he referred me to an ENT specialist closer to where I reside. I met with this new ENT specialist who also is an otolaryngologist at the MD Anderson Cancer Center. He referred me to his colleague at the Seattle Children’s Hospital who specialises in vascular anomalies. I was extremely excited to hear this news, but my insurance would not cover out-of-state referrals. 

While waiting for approval I continued to go back and forth to the ER. I had numerous CT scans which helped diagnose me.  Finally, a doctor was found at the same centre who specialises in oncology and haematology. He agreed to treat me. I am honoured to be the first patient he has treated for this disease. 

I hope that by sharing my experience in the medical field and with people we all can learn more from it. I am forever grateful to the doctors involved in my care and who continue to push for me. 

In April 2024, I was in so much pain I almost gave up. I could no longer swallow; my throat was huge. I stopped eating and lost 12 pounds in 5 days. I would choke on my saliva and constantly drool. When I would sleep, I had to sit up with pillows around me. I barely slept, it was uncomfortable, and the pain was excruciating. At this time, I decided to continue fighting, I would request a feeding tube to live. I contacted my doctor and let him know my plan. I checked myself in the ER again at a different hospital. He met me after I was admitted and has been involved in every step since. I spent 10 days and had sclerotherapy of the neck seroma via an existing drain performed. Per my request a gastrostomy tube was placed. While in the hospital I began treatment. For a few weeks after my discharge, I relied on a suction machine to assist with my overabundance of saliva.

Finding a support community—finding your power

When I discovered LGDA, the patient organisation that supports people affected by complex lymphatic anomalies like GSD, it was an amazing feeling to know there is a community. I had been searching and wanted to connect with others who understood my struggles. 

Sharing my story is part of my healing process. I used to think my illness made me weak and I was embarrassed. Now I am proud of how far I have come and knowing what I am truly capable of. This community has shown me how to turn my pain into power.

My attitude and perception of life have changed. Every day I wake up and I am happy to be alive. I enjoy my family and friends and cherish our moments together. Positive affirmations help support and encourage my goals. I am doing the best that I can, and I will continue to improve. Although I need a new jaw and more surgeries, I am ready for anything that comes my way. Before this, I loved to travel and was an intense foodie. Now I enjoy reading or listening to audio books. I have read over 60 books since this journey began. What I failed to realise was that this disease can affect your family more than you. I have an identical twin sister and although we no longer look the same, I am thankful she does not have to endure what I have. It puts me at great ease to know my son and grandchildren will not carry this down our genetic lineage.  

My message for those newly diagnosed is if someone does not want to help you, find the one person that will. I went from being completely ignored to having 15 medical appointments a month. A talented team is essential with a strategic plan to treat this disease. Be patient with yourself and prepared mentally for any challenges you may face. Surround yourself with support and love, even if you are the source. Our bodies are resilient. 

This disease can impact the quality of your life. But it can never extract the uniqueness of you.

Take it one day at a time and just know that you are not alone. We are all stronger than we think. Encouraging thoughts, you are powerful, and you will heal.

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