mY STORY
I was born with scoliosis and severe dermatitis. My parents, at the end of the 80's, and according to the medical capacities of those times, did their best efforts to help me. Starting in my teens I started having mild bone pain that was identified as costochondritis and nothing that ibuprofen could control. Likewise, other ailments such as severe gastric problems since my childhood and endocrine problems (sugar).
As I grew older, my self-esteem declined because the disfigurement on my right side was obvious. I did everything possible so that the pants did not look shorter on one side than the other, but it was not enough because it made me uncomfortable.
Close to my 15 years, I was paralyzed in a school activity. I was escorted to the exit where my dad picked me up and took me home.
Back home, my mom made the decision that it was time to have surgery and put an end to this suffering.
In March 2002 I underwent a 6-hour surgery, placing 2 rods and 12 screws that would slightly correct the curvature of my back. This ended chronic pain, walking difficulties, pinched nerves, but it also ended my chances of continuing in sports and made a future pregnancy more difficult.
A few years later, the bone pains came and went, but could be controlled with supplementation and medication, until it's peak in 2016.
By 2016 I began to have unusual pain but I blamed it on the stress of work and my scoliosis condition. I sought all the help possible since the usual therapies did not give me any benefit. The pain increased and spread throughout the right side until it reached the point of covering the entire body.
The pain I felt was indescribable. I felt stinging, burning, paralyzed. From 2016 to 2019 I visited doctor, after a doctor, after a doctor and none could give me a diagnosis. I was going to different ERs to get shots for pain and to get some sleep because I couldn't sleep. During those years, I gained 60 pounds from steroids.
After an hospitalization in 2019, I decided to die. But one night close to my birthday, where the pain would not let me breathe, much less sleep, I decided to take all my studies and find what ailed me.
After hours of reading, searching for meanings of medical terms, I found a radiology test that was faithful and accurate to my bone scan. I self-diagnosed with SAPHO Syndrome.
A syndrome is a disease that affects multiple parts in the body, in this case [S]ynovitis, [A]cne, [P]ustulosis, [H]yperostosis, [O]steitis. I remembered the rheumatology recommendation from the internist doctor in my last hospitalization, so I went with all the information and all my studies. And in one month, in December 2019 it was confirmed.
I started treatment with sulfasalazine (chemotherapy) in January 2020 just as the pandemic was starting, but my stomach couldn't take it. After that, I started to feel bad, rarely bad.
I started having panic attacks, my period stabilized, which was extremely rare and confirmed me that something was wrong with me. I had an incident with cat litter that suffocated me and this drove me into another unresolved medical crisis for the next three years and aggravated my medical condition.
More blood tests, more than twenty medical visits to different types of doctors: endocrinologists, gastroenterologists, nephrologists, gynecologists, cardiologists, psychiatrists, psychologists. Everything was difficult between the pandemic and the medical shortage in Puerto Rico. Until, one of my naturopaths got to the bottom of this.
Labs revealed that the parathyroid hormone was extremely high. Referred to a first endocrinologist, she ignored the results, and so I went to four more who did the same.
My body was failing more and more. The gastric problems were daily, my period was twice a month with abundant flow that did not allow me to get out of bed; my vision was blurry, anxiety attacks were uncontrollable, medications weren't working, and fatigue was immeasurable. I finally ended up losing my uterus in March 2021.
Desperate and tired, I joined a support group for the condition. Filled with information, I conclude that I had normocalcemic primary hyperparathyroidism, a phenotype of problems with the parathyroid glands.
The (4) parathyroid glands are responsible for controlling calcium levels in the blood. Calcium is necessary, first of all for your bones and for your muscles. If one or more glands are not working, it creates a mess in your body that can affect your organs. When one or several glands are not working properly, they extract calcium from your bones (which causes inflammation) and can be deposited in your organs such as kidneys, causing stones; in your intestine, causing gastric problems; in your heart, clogging your arteries, and a host of chronic symptoms, including anxiety and depression that can't be explained nor treat with psychiatric medications because they are caused by a hormonal imbalance and not a chemical-cerebral imbalance.
Most people with hyperparathyroidism have high calcium levels, which is known as classic, but I had one of the "more complex" phenotypes because my calcium and vitamin D were normal.
Why Vitamin D? Vitamin D itself is a hormone that ensures that calcium is well absorbed by the intestine and reaches its destination. Because of this, I spent three years seeking help because my numbers said otherwise. However, my body and my intelligence knew that this was my condition.
Being in both SAPHO Syndrome and Hyperparathyroidism support groups, I started reading testimonials with many similarities in symptoms and theorized that SAPHO Syndrome occurs due to late or misdiagnosis of Hyperparathyroidism. But there is more.
After winning a social, medical and financial fight, where I had to fill myself with faith, hope and conviction to achieve my surgery in Alabama in February 2023, I discovered that my hyperparathyroidism was caused by hyperplasia (hypercellular), which means that I had three enlarged glands that were causing destruction in my body and they were removed.
People with hyperplasia are believed to have a genetic condition called Multiple Endocrine Neoplasia. There are three types and very few people, according to AMEN Support, have a positive result. The rest are diagnosed based on symptoms: hyperparathyroidism, scoliosis, costrochondritis, endocrine problems with the adrenals and other organs, among other symptoms. So for the third time I self-diagnosed myself, now with this genetic condition. Fortunately for me, I was accepted a the Underdiagnosed Network Diseases, and I will undergo to further tests in May 2024 at their center in the University of Alabama in Birmingham where I had my parathyroidectomy.
If you had any doubts, as soon as I got up from surgery the gastric problems went away: the anxiety went away, 80% of the pain went away and little by little, I hope to heal and improve and have the life I always wanted and dreamed of. However, the bodily damage still there. SAPHO Syndrome stills here and now I had to find a way to reverse the damage.
SAPHO Syndrome is also known as CRMO in adults, a condition that is often confused with costochondritis and that occurred mildly in adolescence. They were indications of something bigger that the doctors could not foresee.
And now, because I don't want anyone to go through the same thing as me, I developed this organization. To have SAPHO Syndrome recognized and to advocate for other rare conditions that are not yet recognized, limiting access to treatment, financial aid and social assistance.
What does the Emma Feline Foundation (EFF) have to do with The ADVC?
EFF emerged after Hurricane Maria hit Puerto Rico in 2017. The overpopulation of cats grew exponentially. I was already a volunteer for a dog rescue organization but I wanted to form a different animal welfare organization and surprisingly, I started working with cats.
Working with cats became my therapy. It was my reason and purpose to get up every morning. Without the foundation, I most likely would not be here because I considered suicide and asked God that if this was my life, it would be better for Him to take it away.
The curious thing about working with these cats is that in my way, and now in the way of the whole team, we rescue cats with special conditions. Cats with chronic conditions like myself and several people on the team. And this made me develop programs and ideas that intertwine between the human being and our feline friends.
I can't hide the well-being I felt while being surrounded by cats. A temporary disconnection from my ailments, struggles and problems, and that same disconnection is what I want to offer to patients like me, with cats with chronic conditions like me.
Our slogan would be something like: "We save cats to save people. We save people while we save cats", because if you are a parent of one, you can testify that there is nothing like their purr and affection to give you a little relief when you you feel bad.
Working EFF under The ADVC will help me, as it's said, to kill two birds with one stone, because there are funds that allow me to work both things at the same time, but putting people first.
This program requires a lot of education in Puerto Rico. Building it will take time, but I know it will work after living through everything I've been through in my last seven years.
I am excited and extremely committed because I know that when this experience is completed, the transformation that we all want for Puerto Rico will be evident.
As I grew older, my self-esteem declined because the disfigurement on my right side was obvious. I did everything possible so that the pants did not look shorter on one side than the other, but it was not enough because it made me uncomfortable.
Close to my 15 years, I was paralyzed in a school activity. I was escorted to the exit where my dad picked me up and took me home.
Back home, my mom made the decision that it was time to have surgery and put an end to this suffering.
In March 2002 I underwent a 6-hour surgery, placing 2 rods and 12 screws that would slightly correct the curvature of my back. This ended chronic pain, walking difficulties, pinched nerves, but it also ended my chances of continuing in sports and made a future pregnancy more difficult.
A few years later, the bone pains came and went, but could be controlled with supplementation and medication, until it's peak in 2016.
By 2016 I began to have unusual pain but I blamed it on the stress of work and my scoliosis condition. I sought all the help possible since the usual therapies did not give me any benefit. The pain increased and spread throughout the right side until it reached the point of covering the entire body.
The pain I felt was indescribable. I felt stinging, burning, paralyzed. From 2016 to 2019 I visited doctor, after a doctor, after a doctor and none could give me a diagnosis. I was going to different ERs to get shots for pain and to get some sleep because I couldn't sleep. During those years, I gained 60 pounds from steroids.
After an hospitalization in 2019, I decided to die. But one night close to my birthday, where the pain would not let me breathe, much less sleep, I decided to take all my studies and find what ailed me.
After hours of reading, searching for meanings of medical terms, I found a radiology test that was faithful and accurate to my bone scan. I self-diagnosed with SAPHO Syndrome.
A syndrome is a disease that affects multiple parts in the body, in this case [S]ynovitis, [A]cne, [P]ustulosis, [H]yperostosis, [O]steitis. I remembered the rheumatology recommendation from the internist doctor in my last hospitalization, so I went with all the information and all my studies. And in one month, in December 2019 it was confirmed.
I started treatment with sulfasalazine (chemotherapy) in January 2020 just as the pandemic was starting, but my stomach couldn't take it. After that, I started to feel bad, rarely bad.
I started having panic attacks, my period stabilized, which was extremely rare and confirmed me that something was wrong with me. I had an incident with cat litter that suffocated me and this drove me into another unresolved medical crisis for the next three years and aggravated my medical condition.
More blood tests, more than twenty medical visits to different types of doctors: endocrinologists, gastroenterologists, nephrologists, gynecologists, cardiologists, psychiatrists, psychologists. Everything was difficult between the pandemic and the medical shortage in Puerto Rico. Until, one of my naturopaths got to the bottom of this.
Labs revealed that the parathyroid hormone was extremely high. Referred to a first endocrinologist, she ignored the results, and so I went to four more who did the same.
My body was failing more and more. The gastric problems were daily, my period was twice a month with abundant flow that did not allow me to get out of bed; my vision was blurry, anxiety attacks were uncontrollable, medications weren't working, and fatigue was immeasurable. I finally ended up losing my uterus in March 2021.
Desperate and tired, I joined a support group for the condition. Filled with information, I conclude that I had normocalcemic primary hyperparathyroidism, a phenotype of problems with the parathyroid glands.
The (4) parathyroid glands are responsible for controlling calcium levels in the blood. Calcium is necessary, first of all for your bones and for your muscles. If one or more glands are not working, it creates a mess in your body that can affect your organs. When one or several glands are not working properly, they extract calcium from your bones (which causes inflammation) and can be deposited in your organs such as kidneys, causing stones; in your intestine, causing gastric problems; in your heart, clogging your arteries, and a host of chronic symptoms, including anxiety and depression that can't be explained nor treat with psychiatric medications because they are caused by a hormonal imbalance and not a chemical-cerebral imbalance.
Most people with hyperparathyroidism have high calcium levels, which is known as classic, but I had one of the "more complex" phenotypes because my calcium and vitamin D were normal.
Why Vitamin D? Vitamin D itself is a hormone that ensures that calcium is well absorbed by the intestine and reaches its destination. Because of this, I spent three years seeking help because my numbers said otherwise. However, my body and my intelligence knew that this was my condition.
Being in both SAPHO Syndrome and Hyperparathyroidism support groups, I started reading testimonials with many similarities in symptoms and theorized that SAPHO Syndrome occurs due to late or misdiagnosis of Hyperparathyroidism. But there is more.
After winning a social, medical and financial fight, where I had to fill myself with faith, hope and conviction to achieve my surgery in Alabama in February 2023, I discovered that my hyperparathyroidism was caused by hyperplasia (hypercellular), which means that I had three enlarged glands that were causing destruction in my body and they were removed.
People with hyperplasia are believed to have a genetic condition called Multiple Endocrine Neoplasia. There are three types and very few people, according to AMEN Support, have a positive result. The rest are diagnosed based on symptoms: hyperparathyroidism, scoliosis, costrochondritis, endocrine problems with the adrenals and other organs, among other symptoms. So for the third time I self-diagnosed myself, now with this genetic condition. Fortunately for me, I was accepted a the Underdiagnosed Network Diseases, and I will undergo to further tests in May 2024 at their center in the University of Alabama in Birmingham where I had my parathyroidectomy.
If you had any doubts, as soon as I got up from surgery the gastric problems went away: the anxiety went away, 80% of the pain went away and little by little, I hope to heal and improve and have the life I always wanted and dreamed of. However, the bodily damage still there. SAPHO Syndrome stills here and now I had to find a way to reverse the damage.
SAPHO Syndrome is also known as CRMO in adults, a condition that is often confused with costochondritis and that occurred mildly in adolescence. They were indications of something bigger that the doctors could not foresee.
And now, because I don't want anyone to go through the same thing as me, I developed this organization. To have SAPHO Syndrome recognized and to advocate for other rare conditions that are not yet recognized, limiting access to treatment, financial aid and social assistance.
What does the Emma Feline Foundation (EFF) have to do with The ADVC?
EFF emerged after Hurricane Maria hit Puerto Rico in 2017. The overpopulation of cats grew exponentially. I was already a volunteer for a dog rescue organization but I wanted to form a different animal welfare organization and surprisingly, I started working with cats.
Working with cats became my therapy. It was my reason and purpose to get up every morning. Without the foundation, I most likely would not be here because I considered suicide and asked God that if this was my life, it would be better for Him to take it away.
The curious thing about working with these cats is that in my way, and now in the way of the whole team, we rescue cats with special conditions. Cats with chronic conditions like myself and several people on the team. And this made me develop programs and ideas that intertwine between the human being and our feline friends.
I can't hide the well-being I felt while being surrounded by cats. A temporary disconnection from my ailments, struggles and problems, and that same disconnection is what I want to offer to patients like me, with cats with chronic conditions like me.
Our slogan would be something like: "We save cats to save people. We save people while we save cats", because if you are a parent of one, you can testify that there is nothing like their purr and affection to give you a little relief when you you feel bad.
Working EFF under The ADVC will help me, as it's said, to kill two birds with one stone, because there are funds that allow me to work both things at the same time, but putting people first.
This program requires a lot of education in Puerto Rico. Building it will take time, but I know it will work after living through everything I've been through in my last seven years.
I am excited and extremely committed because I know that when this experience is completed, the transformation that we all want for Puerto Rico will be evident.
the advc
Mission:
Provide medical social services to the community, easing access to preventive diagnosis and treatment for patients with rare and chronic conditions.
Vision:
Part 1: SAPHO Syndrome Advocacy Group
a) Get SAPHO Syndrome to get an ICD code
b) That SAPHO Syndrome be added to the Social Security Blue Book
c) Promote research into the connection between hyperparathyroidism and SAPHO Syndrome.
d) Include SAPHO Syndrome in the list of diseases of NIAMS.
Part II:
• Develop connections with medical powers to provide quality medical services to Puerto Rican patients.
• Advocate for preventive diagnosis through genetic testing
• Guide and offer financial assistance to patients in need of payment of health insurance premiums, copayments, coinsurance, supplies, utilities, and transportation.
• Advocate for better services from social programs such as Social Security.
• Connect patients with international experts for treatment.
• Support extensive drug research for treatments that have been denied by the FDA.
• Build and provide a holistic space that allows working on emotional & mental health while waiting for approval and/or treatment.
• Speed up the creation of the International Classification of Diseases (ICD) for rare conditions and include them in the Social Security Blue Book.
Provide medical social services to the community, easing access to preventive diagnosis and treatment for patients with rare and chronic conditions.
Vision:
Part 1: SAPHO Syndrome Advocacy Group
a) Get SAPHO Syndrome to get an ICD code
b) That SAPHO Syndrome be added to the Social Security Blue Book
c) Promote research into the connection between hyperparathyroidism and SAPHO Syndrome.
d) Include SAPHO Syndrome in the list of diseases of NIAMS.
Part II:
• Develop connections with medical powers to provide quality medical services to Puerto Rican patients.
• Advocate for preventive diagnosis through genetic testing
• Guide and offer financial assistance to patients in need of payment of health insurance premiums, copayments, coinsurance, supplies, utilities, and transportation.
• Advocate for better services from social programs such as Social Security.
• Connect patients with international experts for treatment.
• Support extensive drug research for treatments that have been denied by the FDA.
• Build and provide a holistic space that allows working on emotional & mental health while waiting for approval and/or treatment.
• Speed up the creation of the International Classification of Diseases (ICD) for rare conditions and include them in the Social Security Blue Book.