Diseases such as pheochromocytoma and paraganglioma are considered “rare” or “rare” but they are not invisible! Patients and their relatives and friends, face the problem of getting a diagnosis and access to appropriate treatment, often feeling alone and helpless. In PHEiPAS we fight for these barriers and fears disappear. Here are a few testimonials from patients and relatives who have gone through this situation we present.
My name is Isabel, I am an oncologist and I want to tell you our experience with a young patient diagnosed in 2003 and with no treatment options. She was our sister Merce, who was just 35 years old and whose death left four little children ( the youngest one year old) orphan.
When the happiest moments of her life seemed to have arrived, with a solid and enviable family, when she had just had her first daughter, she received the most severe blow. It was May, 2003 and we were in a family gathering. Everything seemed fine, but my father, worried, told me: ”Look at your sister, she keeps on limping”. Quickly, I turned to observe her; it was certainly striking how much she had worsened in two weeks. She had been in rehabilitation for six months, when her pain in the right part of the pelvis started. I didn’t like it, so I asked her to come to the hospital emergency department the following Tuesday to get an X-ray of her pelvis… how painful it is to me to remember the image! How harsh the radiologist’s words still echo in my mind, telling me that “all the acetabulum had been destroyed”!!!… Even today the words are echoing in my mind, and I can distinguish clearly the image of horror… How could I talk to her? What could I say to my parents? I hospitalized her but I didn’t tell her the truth; it was so cruel that I thought she wouldn’t be able to endure it. An MRI was performed to look for the primary tumour and there it was: she had an enormous tumour in the left kidney and she had multiple metastases in bones and nodes. How could she imagine it? She thought that a hip fracture is solved by operating and that everything would be fine… Little by little she realized it was more serious, and her question was always: “Will I survive?” And I couldn’t tell her the truth. I needed her to be strong, to fight… but… where were the weapons? This was the worst for us, we walked with her, keeping her company across a vast desert where we were unable to see the horizon, where we could not even glimpse an oasis to drink a bit of recovery… and every night was a rude awakening, realizing life ends and there isn’t a way out…
This is what happens to the patients who have a rare cancer; these patients see how life comes to an end and they don’t even have the opportunity to fight. They and their families feel a hopelessness difficult to describe, being such a heartbreaking experience.
In spite of all, Merce was given a bone marrow transplant in the summer of 2003, to carry out an immunological control. She was 38 days isolated in a room in the Clinical University Hospital in Valencia; 38 days fighting, with just one person next to her and unable to see her children. She was patient, hopeful, obedient…because she wanted to fight. Merce was basically a person full of hope, joy and optimism. Deep down, I think she was convinced that it will end well and this was positive for her and for all of us. But fate shattered our hopes and a bit later, in the IVO, she underwent an experimental treatment with Aplidina, which was not successful and brought complications.
Gradually her candle was going out, the tumour invaded the bone marrow and she didn’t produce red blood cells. She became exhausted easily and we kept her alive through blood transfusion every two or three days. Because she had an objective: the First Communion of her two elder sons on the 8th of May. And she reached it, stuffed into a white dress that hid her polymedicated body, on her wheelchair, with her moon-like face. That day she made her face up and she wore a big straw hat. She saw the boys receiving communion and then, during the lunch, overwhelmed by emotion, she asked us to take her home. She was very tired and she couldn’t stay on the chair. That day we talked; and I knew that she was totally aware of her condition, but she needed confirmation to organise things in her life.
Maybe she had known from the beginning, but she didn’t want to surrender. I think it mustn’t have been easy for her to come to terms with the idea of not seeing her children grow. However, she never complained to me about it. I saw how she endured the pain and sickness the illness caused, but I also saw her accepting the deformities and limitations with resignation. She lived bound to a wheelchair for 11 months, she was separated from her children more than one month, and she always wanted to go on. Merce would have wished to live a long life on her wheelchair, enduring pain, if instead she would have been allowed to see her children grow.
From that day on my sister was a better person for me; she was an example of acceptance of adversity, an example of serenity in contrast with the sadness the people who went to visit her usually felt. She was a person ready to raise our spirits in her last days. She was such a good and kind person that she didn’t stand to see her loved ones suffering, this is the reason she never talked about her sadness for leaving us.
Her light went out in the early hours on May 16th, 2004. I will never forget her last words, taking my hand; outstanding…”I am sorry, Isa, I’m complaining a lot.”
For years we didn’t want to look back; the pain produced by the loss of such a young and loved person was too acute for the family. Luckily, our parents managed to recover from the blow and our nephews and niece are growing strong and happy. But the scars remain and in spite of time being a healer, they still hurt with the cold. For our association, Merce’s story is an example of how this illness can shake a family.
We often turn a blind eye to the miseries and tragedies of others. We never think we can be hurt by an earthquake or a tsunami. From our safe position we watch the sufferers with no empathy, because it is difficult to stand in their place.
PHEiPAS wants to make us understand real suffering in a real family. The suffering of a real woman and her children who have been growing up without a mother. It seeks to move us closer to life’s hardness, to understand that there are no resources to investigate these rare tumours. If Merce had had a colon cancer or a breast cancer her life would probably been longer, but it was her fate to have a tumour with no treatment in that moment.
Dedicated to all Merces, to all parents, to all spouses and all the children of the patients who have died young with no option to fight.
My daughter’s name was Laura, she was 27 years old, she was married and her daughter was just three months old.
One day in February, in 2006, she suddenly started to feel unwell and we called the family doctor in our village. He said it was nothing serious, that it could probably be a stomach virus. She was feeling worse and worse, so he finally suggested going to hospital. There she was examined and after some endless days, the doctors decided to operate. And it was then when, unexpectedly, a large tumour appeared. After two days in the intensive care unit, several days in hospital and lots of questioning the doctors, the surgeon told me they had never seen a tumour like that in the hospital. The diagnosis was GASTRIC SARCOMA ESTROMA, GASTRIC GIST (U75).
We were moved to another hospital because there was a doctor who was a specialist in that type of tumours. She advised us to join a Study Plan that was being carried in the USA. She prescribed Laura some pills and told her that the treatment could cure her.
We wanted to ask for a second opinion, so we went to a hospital with a remarkable trajectory in the oncology field. There the doctors told us that the operation had been successful, Laura was cured. As you can imagine the happiness we felt was immense.
We spent two years going to many controls and medical visits. Although Laura was feeling well, several tumours were found in one of the CT scannings. On December, 22nd she came into the operation room for the second time. They removed several tumours but none of them affected any vital organs. We came back to the same routine we had followed until then: medication, blood tests, tests and everything the doctor thought was necessary. On the 12th April of 2010 she was operated a third time. The tumour was now in her liver.
In September 2011 the tumours appear again. This time they stroke harder because they could not be operated and the treatment she followed was not working. Her doctor decided to send us to the Twelfth of May Hospital in Madrid. The medical team that attended us tried to do the impossible to help her, but she started losing weight and she felt very weak. However, in spite of that, she never gave up.
On April 8th 2012, on Easter Sunday, my daughter passed away at age 33 in her house, surrounded by her closest and dearest family.
Laura was always a brave fighter and she never surrendered to the illness. With her usual courage, she tried to enjoy every moment with her husband and her daughter after each operation. She never showed any sign of weakness, although she was probably frightened. She was determined to avoid the suffering of the people who surrounded her. She was devoted to her family, and tried to make them happy.
Having lots of friends, she never lamented her luck in front of them. She knew everybody was supporting her, and she tried to live the life of a young woman. She always sought the well-being of her close family and friends, trying to make them laugh with her sense of humour, even in the more painful moments of her illness.
Only six months after my daughter had passed away, I received a phone call from doctor Isabel Tena. She talked to me about my daughter’s illness and the pain I was feeling was as if I had a dagger stuck in my heart. When she told me that my daughter’s illness was not a matter of chance, that it was due to a genetic condition, I didn’t doubt for a second; I was going do my best to help her. My daughter had always wanted that her illness could help other people in a similar plight, so, was there a better way than starting helping her own dear family?
Today I can say very proudly that Laura’s wish has now been fulfilled. Her daughter, her father, her brother, nieces and nephews, aunts and uncles, cousins, and many more unknown people are able to access the prevention measures to avoid her cruel illness to affect them. Today I can honour my daughter helping her generous dream to come true: to go forward in the knowledge and treatment of this disease.
Thanks to our efforts we can say that PHEiPAS is nowadays a reality. I know that my daughter, from where she may be now, would be very proud of the work done.
My story is no different from many of our friends affected by this disease.
Despite being a doctor, the tumor has cheated me as much of you.
I am 57 years old. I am Medical Doctors, specialist in Intensive Care Medicine. I Work in the ICU of Hospital of Motril (Granada).
My problems becoming visible in March 2010. I enjoyed of a good health status, except hypertension (diagnosed a months earlier).
In March 2010 I had a chest radiograph control (did not have any symptoms) and there, to my surprise, a mass in the posterior mediastinum was visible , at the level of the 6th vertebra (at the back, next to the column).
We diagnose a tumor, which was unique and was malignant according to the PET. Without knowing exactly what it was, in April I underwent surgery at the Hospital October 12. It was an open chest operation; very complex due to a very important tumor bleeding during surgery, but finally turned out well. The surgeon told me he believed he had removed the tumor completely. The pathological analysis of the tumor concluded that it was a “benign” Paraganglioma. For this I stayed tranquil probably in excess. My surgeon planned annual reviews with MRI. So I was doing it.
In January 2013, doubts arose in the MRI about could be a local recurrence of the tumor. Few months after this I did another MRI and it was concluded that no were recurrence of tumor, that what is seen was scar tissue. At that time I should have done a PET, but I was confident about the alleged “goodness” of the tumor.. I did not get into the hands of any oncologist. Only the surgeon and I watched my process and we took the decisions.
All went well until June 2014, when I start with a sore back that looks like a jerk after a sudden back movement. I stand to October, without thinking about the Paraganglioma. In October I get an x-ray because the pain is not going away and even increase.
And there I find the problem. I have a metastasis in a vertebra (D10) that invades the spinal canal and compresses the nerve exit. I make a PET I have not just one but two metastases in two vertebrae and three in right hip and pelvis. And at a local recurrence of the tumor were initially operated (D6) was.
I did a biopsy of the spinal lesion confirming that it was a metastases of the original paraganglioma. Biopsy should not have done, for the risk involved. I learned later this. In my case, the biopsy it bled a lot but was controlled soon and no more problems, even if some “fright” to the doctors who did.
I am lucky that my daughter has recently completed the specialty in Oncology and she has been concerned to find out who is the person who more knows of this process in Spain, to try not to make more mistakes. That person is Isabel Tena and now I’m in your hands. Now I am under treatment with Somatuline. I have repeated the PET three after months and no more lesions have been detected.
In summary, in my case could well apply the Spanish saying “in house of the blacksmith spoon of wooden.”
A learning and advice for everyone, if you allow me: Put yourself in the hands of those who know of this tumor a soon as possible. Never trust on the alleged goodness of the process and how slow growing and quietest is its evolution. That makes Goliath. Its destructive force comes from ignorance of most physicians handling it and in the indolence of its clinical manifestations. It attacks treason. As you leave a wedge to the improvisation or the luck. It grows slowly but inexorably if not treated.
We need professionals who are concerned and deal with this type of tumor and progress in methods of treatment and early diagnosis. It is also important that all patients are in the hands, where possible, of one or a few doctors who know about it and that are interested in researching a cure.
We have at least one advantage: times for better therapies are discovered, and above all, one person who takes care of us, Dra. Isabel Tena. From here my thanks to your effort, I assure you it is much.
My greetings to all
I am Pilar, and I am going to write about my experience with Paraganglioma. My husband was diagnosed with paraganglioma on the 20th August, 2009 and died 20th November that same year. Five months before being diagnosed, in March, he started to feel that something was wrong. He used to go jogging every day he was a marathon runner. One day, when he came back home, he complained about an acute pain in his back, as if something had broken in his spine. We went to the hospital and the x-rays didn’t show anything wrong. He was still feeling the pain, still suffering. His GP prescribed painkillers, and agreed to allow him a three days sick leave. He didn’t get better but he had to come back to work. He had to give up jogging because the pain was insufferable. He started swimming. He said that the more he swam, the better he felt.
We continued going to the hospital emergency room when the pain was unbearable, we went to different doctor’s offices, traumatologists, physiotherapists; nobody discovered anything. They went on giving him painkillers but the pain never disappeared. Finally, the traumatologist told him he was going to try with an MRI. He had an appointment on 20th August. They told him that after that he would probably start a rehabilitation programme. But after the MRI the doctor told him to go directly to the hospital emergency room. A tumour mass had fractured the T-4 vertebra. He was immobilised in a hospital bed. They said he was in danger of breaking his spinal cord. After a TAC they saw he had a primary tumour next to his bladder.
He was frightened, but he tried to be brave, especially when he was with his daughters, he never stopped joking and making fun of himself. Nobody told us he had no opportunity to survive, so we firmly believed they were going to do whatever it was necessary to do to save him. After the initial anguish, we chose to believe everything would be alright. The primary tumour was removed, and with it a part of his bladder. Being motionless for such a long time made him weaker and weaker. His muscles were shrinking, and his weigh was going down. After two weeks recovering, they cut one of his ribs out and they made a new vertebra with it. They removed all they could of the tumour and substituted the vertebra. He suffered a lot. He accepted it stoically. Eventually, he started to walk with a corset. His desire to live was so strong that he himself prepared his training programme: two corridors in the morning, two in the afternoon. His family and friends, always at his side, walked with him up and down the corridor like a procession.
His general internist doctor told us that the doctors in the Provincial Hospital were waiting for him to start the chemotherapy. And after two months, he was moved there. In that hospital we walked all the patios and corridors, so strong was his desire to recover. But he was never better, and the chemotherapy was never starting. Finally they told us he was going to be treated with a new substance, MIBG, on the 23rd November, that we could go home and live a normal life for some days. In the following 4 days there wasn’t enough fresh air for him. Stuffed in his corset, we walked through paths, up mountains, near the sea. We sat on park benches under the sun for hours. He rejoiced in his family. His daughters came to his room to kiss him before going to school. We prepared his favourite food, his friends came to visit him. He was such a dear man. But on the 20th, after coming home from a walk, he sat on his armchair and started to feel unwell. We didn’t have time to go to the hospital, he passed away there.
A year later, when I contacted Doctor Isabel Tena I realised the symptoms she was talking about were the ones my husband had before we got married, when he was 25. Back then he had electrocardiograms and the doctors always told him he was extremely fit. He had lived with the tumour for 20 years. A screening like the one that is performed nowadays would have saved his life.
Hello everyone! My name is Sarah, I´m 53-year-old, Brazilian and dermatologist. Yes, Doctor and patient in one bottle! I´m married and have a couple of children, Luisa 23- and Pedro 21-year-old.
My illness history started in 2005 when I got an emergency during a short trip to Cuzco/Peruvian Andes. After suffering an unbearable pain I found out that I had a huge pheochromocytoma in my right adrenal gland. It was removed successfully and the 4 next years I underwent to regularly checkups without any sign of spread disease. At that time my Family and I were living in Buenos Aires/ Argentine for my husband job and we were living our best family moments.
By the way, I would like to remark that I never presented any symptoms related to this neoplasia (high blood pressure, sweating or anxiety) beside no history in Family of neuroendocrine tumor.
Well, after four years tumor removal , excruciating bone pain started beginning a calvary of searching different doctors, holistic therapies, kinesiotherapy without diagnosis or relief. After 1 year searching, the final diagnosis: fibromyalgia.
In 2010, we came back to Belo Horizonte/Brazil (our home town) after 10 years of our argentinean experience. Nevertheless, the pain events were becoming worse and I started to track other ways to understand such strange story. Other studies were done and, at that point, finally (5 years after the first event in the Peruvian Andes), I discovered that the disease were disseminated to my liver and bones. Huge lesions scared all doctors that crossed my way and somehow left the message that there was nothing left to do. Up till now, no mutation have been detected.
Well, here I am! After 3 cycles of MIBG (the first one with intense side effects where I saw death face to face) and somatuline (first 2 years on daily basis and now, monthly), I´m a four year survivor with up´s and down´s, but moving forward.
Things that helped me a lot: a good team and search a meaning for that experience! Family support, a good and experienced Endocrinologist, kinesiologist, psychologist, yoga, daily meditations and Reiki improved my life quality and made me believe that all is possible!
But, what is really making the difference in my journey? Look for and work with a team that believe in other possibilities and see no boundaries or statements that could blunt my faith in me.