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    Community Voices
    Community Voices

    How Cancer Survivorship Programs Help Patients

    Dr. Angela Dumbuya DNP, an Advanced Oncology Certified Nurse Practitioner, has been working with cancer patients for 15 years. In that time, she has seen changes in the way cancer is treated. Chemotherapy is still the most commonly used treatment, but there’s been a move towards immunotherapy, a therapy that helps the immune system fight cancer, and targeted therapy, which uses drugs to target specific genes and proteins that aid in the growth of cancer cells. More clinical trials are carried out for vaccines, and doctors have more access to diagnostic tools. The medical side has certainly seen a positive shift. Dr. Dumbuya graduated with her Doctor of Nursing Practice from the University of Alabama at Birmingham in 2012. However, cancer reaches beyond the diagnosis and treatment. From the financial burden of paying for treatment to late effects that arise after recovery to carrying out activities of daily living, many patients, and their families, cope with the lasting effects cancer leaves on their lives. These concerns gave rise to the cancer survivorship movement. Started by the National Coalition for Cancer Survivorship (NCCS), survivorship begins “from the moment of diagnosis” and lasts “for the remainder of life” (from “The Nurses Guide to Cancer Survivorship,” by Kathy LaTour, 2014 by CURE Media Group). In 2014, the cancer survivorship program at the John B. Amos Cancer Center (JBACC) in Columbus, GA was created by Dr. Dumbuya, who is also the center’s only oncology nurse practitioner. Her program targets patients with curable cancers and addresses their medical, psychological, social, nutritional and health maintenance needs. “There was a time when nobody knew what to do with cancer patients,” Dr. Dumbuya says. “We just left them with all of the side effects. So, the survivorship program was really started to make sure that we follow patients effectively after cancer treatment. They know who to follow, they’re not lost in transition, and there is somebody who assumes responsibility after treatment to follow them. To make sure they’re doing all their tests, make sure they’re doing all their cancer screenings.” The History of the Survivorship Movement The NCCS was founded in 1986 when leaders from the cancer community met in Albuquerque, NM. They wanted to recognize that patients dealt with physical, emotional and psychosocial issues related to cancer, issues that were not being addressed in the cancer community. Cancer was a powerful illness that could wield a mighty grip on multiple aspects of survivors’ lives long after treatment has ended. Dr. Fitzhugh Mullan, a co-founder of the NCCS, made this point in his seminal essay on cancer survivorship: “It is as if we have invented sophisticated techniques to save people from drowning, but once they have been pulled from the water, we leave them on the dock to cough and splutter on their own in the belief that we have done all that we can.” Advancements in medicine and technology were not enough — doctors had to keep up with their patients beyond the initial treatment to ensure they remained healthy, secure and avoided recurrence of their cancer or development of a new one. In 2004, the Center for Disease Control and the Livestrong Foundation contributed to the dialogue by publishing “A National Action Plan for Cancer Survivorship: Advancing Public Health Strategies.” They expanded the definition of survivorship to mean living “with, through and beyond cancer” and extended the definition of survivor to include families, friends and caregivers of the cancer survivor. The plan recognized that people related to the survivor, in living with, caring for and having a relationship with them, were also affected by the diagnosis, financially, emotionally and so on. Survivorship programs and the survivorship care plan (SCP) are the culmination of the ideas and needs expressed by doctors, patients and survivors. Programs vary by center, and the plan typically provides a treatment summary and a follow-up plan for the survivor. Livestrong outlined three tiers of essential survivorship care practices in its 2011 publication, “The Essential Elements of Survivorship Care: A Livestrong Brief.” Tier 1, which providers must meet, includes having an SCP, screening for new cancers and recurring ones, and having a care coordination strategy involving all the survivor’s doctors. Tier 2, which providers are strongly encouraged to have, includes psychosocial assessments and care, family and caregiver support, and nutrition services, physical activity services and weight management. Tier 3, which providers should strive to have, includes continuing medical education and counseling for practical issues. Survivorship in Practice Dr. Dumbuya follows many of Livestrong’s recommendations in her program at JBACC. After her patients finish treatment, she schedules them for a 45-minute educational class on their next steps. “I tell them, ‘This is your cancer diagnosis. This is what we treated you with, and based on how we treated you, these are the potential adverse effects. We just want to make sure that you know those things in case something happens. Those adverse effects may never happen, but just in case they happen. These are the reasons why they happen, and this is what you could do about it.’” She gives them a booklet of information, and they are instructed to follow up with their oncologist, their primary care provider or herself, depending on the needs of the survivor. This is where care coordination is important — other providers must be dialed in to ensure the survivor’s specific needs are met. “Somebody follows them up with all the tests they’re supposed to do. Mammogram, imagery, blood tests, things like that. And then we make sure they do all other cancer screenings. You have to do your PSA (prostate-specific antigen), your colonoscopy, your mammogram, your skin exam, all those things. So, it’s a recommendation requirement that has to be fulfilled.” The Commission on Cancer (COC) recommends that 50% of survivors are given SCPs. In 2019, JBACC gave SCP’s to 81%. “We’re the only one in a Piedmont institution that was able to do that,” she states, “so I’m very excited about that and very proud of our efforts, my effort.” *JBACC is part of Piedmont Columbus Regional, which is part of the Piedmont community health system of Georgia. Two of Dr. Dumbuya’s patients, Vanessa Roberts, 60, who had invasive ductal carcinoma in her left breast, and Judy Myers, 74, who had breast cancer, have benefited from her care and her program. Dr. Dumbuya’s husband, Peter Dumbuya, 65, who had prostate cancer, also leaned on his wife during and after treatment. Vanessa had a good outlook. “My doctor said that my prognosis was very, very good,” she says. Her left breast was removed, and she went through numerous rounds of chemotherapy and radiation. Peter’s outlook was similar. “Both doctors, here in Columbus as well as at Emory St. Joseph’s, said I had a very good chance of recovering, and the chance of recurrence was very rare because it was localized in the prostate.” Judy’s cancer was more aggressive. She considered hospice at first but agreed to go through with treatment. “With treatment, I had a chance at living many more years. Without treatment, I had six months, possibly, to live.” “It’s important that you document everything you went through.” Vanessa, who recently retired from her job at a credit card processing company, is looking forward to continuing her acting career. Vanessa continues to see her oncologist once a year. She deals with “chemo brain,” a side effect of treatment that impacts a person’s memory and thinking, and had to reteach herself how to focus to read. “I’m always looking to make sure that brain function is not impaired,” she states, and with COVID-19 continuing to spread, she is extra vigilant. She also has thalassemia, a condition that causes anemia, fatigue and weakness. Her previous chemotherapy and radiation treatments also contribute to the fatigue that she deals with day-to-day. Though Vanessa found support with Dr. Dumbuya, she largely takes charge of her own survivorship. “I was already on a pathway about diet and exercise and mental health,” she says. She attended yoga classes at the Art of Yoga in Columbus. Vanessa also believes the most important thing a survivor can have is a relationship with their providers. “You need to make sure that you feel like you’re getting the best treatment that you can possibly get.” Vanessa also relies on a great group of friends for support. “I could call them in the middle of the night and talk through and work out things with them.” She pays it forward by talking with other survivors in a support group as well as spreading awareness for breast cancer. Vanessa is looking forward to continuing acting. She has acted in the Springer Opera House but primarily focuses on film and television. She’s eager to see how her daughter’s life progresses and is writing a book called “The People That I Love” about the people that have affected her life. “I think it’s good to go ahead and tell my story about the things that have helped and motivated me.” “My wife Angela was my main source of support.” Peter is a history professor at Fort Valley State University and practices law in the field of criminal defense. Peter is relatively healthy given his prognosis. He never experienced any symptoms or showed any signs of having prostate cancer. “It came as a shock because that was the last thing on my mind,” he says. After treatment, he dealt with lower back pain, which he still deals with, but states he can cope with it. He visits his physician once a year to monitor his PSA. He does not have an SCP (Peter was not treated at JBACC), but as Dr. Dumbuya’s husband, he can access her wealth of knowledge on cancer and survivorship anytime. Dr. Dumbuya stayed with Peter in the hospital for two weeks, caring for him and advocating for his needs as he dealt with unexpected side effects of treatment. Despite his positive outlook, Peter still has concerns. “It’s a major disease so it’s always on your mind, especially the rate of recurrence that I read about. I read medical journals or articles, if they can find a way to slow down the rate of cancer diagnosis or infection in this country, as well as in many. It seems to me there’s an increase, an uptick in cancer diagnoses.” Peter stays healthy and avoids certain food and drinks, but it is very possible for survivors to develop a new cancer. Peter was mostly glad to return to normal as a survivor. He likes caring for his and Dr. Dumbuya’s house and his garden. “I still do my research, I still do my writing. Those have not been impeded. I teach, thank goodness, thank god for that. I still drive. I can pretty much do most of the things to maintain the livelihood that I used to do before the diagnosis and the treatment.” “You’re a new person because every cell in your body is rebuilt.” Judy is retired from her job at Synovus and is heavily involved in JBACC’s survivorship program and her church. Judy’s breast cancer was at stage 2 when she was diagnosed. She went through 33 rounds of radiation and 52 weeks of chemotherapy. Like Vanessa and Peter, fatigue is her main side effect, and she also deals with chemo brain. “It starts hitting me about 11:30 every day, and from then I lay down and take a nap for about an hour,” she states. “So, my chemo brain kicks in and I know what I want to say, and I can’t say it. And no telling what might come out of my mouth when I’m talking. I just learned not to make any plans until after 3 every day.” Judy relies heavily on Dr. Dumbuya’s survivorship program, especially the exercise class which runs for an hour on Saturdays. Beforehand, she gives them nutritional information and discusses the adverse effects of weight and obesity on cancer and possible recurrence. Judy also attended a program for survivors at the YMCA that Dr. Dumbuya connected her to. “She would encourage me to get involved in all this stuff, and I did. Whatever she tells me to I tried to do. That was a 16-week course at the Y, and we had a personal trainer for everyone for 12 weeks, twice a week. And then we had a six-month membership at the Y.” Previously, Judy was taking medications for a heart condition. Thanks to the program, she no longer needs it because the exercise has strengthened her heart. Even more, the program has helped her manage her arthritis and kidney disease better. Judy’s advice is for people to really listen to their doctors, and she involves them in her survivorship care. “I’ve given every one of my doctors a copy of [the SCP] and it has helped. Everyone that I showed it to said it was a great idea. I can’t begin to tell you how it’s helped me.” Judy leans on her faith in God and her husband, who is a survivor of bladder cancer, to keep moving forward. She gives back through the sewing ministry at her church. They have made 4,000 heart-shaped pillows for breast cancer patients and over 3,700 masks. They are also in the process of making scrub hats for nurses. Issues and Importance of Survivorship With the number of survivors growing each year, survivorship’s importance will grow along with it. Dr. Dumbuya has seen participation grow since starting the program. “A lot of them are trying to lose weight. A lot of them are doing their best to exercise daily. Some of them are participating in seminars for survivorship programs. A lot of people ask questions about what they’re supposed to do after cancer treatment.” However, not everyone goes to their survivorship appointment. “They just don’t look at it as something they need. Some of them are thinking, ‘Okay, I already know what to do. I don’t need to see anybody else for that. I think I know what I’m doing. Or my oncologist will talk to me about that, so I don’t need to come.’” “I would encourage everyone to participate in cancer survivorship programs wherever you are, whatever you’ve been diagnosed with. Go talk to your oncologists, your nurse practitioner about the program and make sure you get a care plan.”

    Community Voices

    To all the doctors I had before

    Let’s start from the beginning. It’s so interesting how the things that happen down the road can change your perspective on the past.

    In 2005, at age 12, I first began suffering from #ComplexRegionalPainSyndrome/Reflex Sympathetic Dystrophy (RSD) in my legs, from my hips to my toes. In short, RSD is an extremely painful neurological condition where your brain sends pain signals to your body when it shouldn’t. At the same time, I started having issues with my GI tract and I also began to suffer from #Endometriosis. Of course, the (at the time) mysterious leg pain took precedence over any other medical issues I was suffering from. In comparison, they were insignificant. So we had to put them on the back-burner–despite the fact that both issues would put me in the ER several times over the years.

    Returning to the , it took them two years to put a name to what was wrong. We had seen dozens of doctors in several cities across two states, and though there were doctors who looked, they always came to the same conclusion in varying forms:

    “She’s just depressed.”

    “All she needs is exercise.”

    “It’s just puberty/growing pains.”

    “She’s lying for attention.”

    “It’s psychosomatic.”

    “She’s too young to know what she is talking about.”

    “She’s fine. There’s nothing actually wrong.”

    By the time I finally found a doctor to treat me, I was 14. I had stopped wanting to look because I had been so discouraged and put down by doctor after doctor not believing what I told them. And I was frustrated with myself, feeling like it was my fault for not being able to communicate it effectively. It was an orthopedic podiatrist (children’s foot doctor), referred by a friend, who took one look at me and gave a diagnosis within 30 seconds of first meeting me.

    Thankfully, at that time my wasn’t that bad, but he still helped me so much. He put me on medication and I began getting the occasional block that really helped me. I was only having a flare up two or three times a year and they would only last for a few days. Most of the people I went to school with didn’t even know I had anything wrong with me–including some of my closest friends.

    Over the years I was always sick with something, I always had something going on that we were trying to figure out. And any time I went to the doctor, I got all of the same answers, no matter what we went in for:

    “She’s just depressed”

    “All she needs is exercise.”

    “She’s fine.”

    But now, along with that always came:

    “Are you sure you have .”

    “Can you tell me what even stands for?”

    “You don’t look like you have .”

    “Non-injury is extremely rare, are you sure it was diagnosed correctly?”

    Every. Single. Time.

    I remember in college I went into a walk-in clinic because I had the flu, and I was 100% prepared for the 3rd degree on my –even though it had absolutely nothing to do with why I was there. But I remember the doctor asked me a few, very respectful question about it, that I could tell were purely from curiosity, and that was it. He didn’t spend time trying to convince me I was wrong, crazy, or misdiagnosed. He was very kind, and he believed me. He gave me the medicine and I left. I remember actually crying in my car because I was that taken aback. How sad is that?

    Over the years, as my symptoms and illnesses began to increase, I started to become desensitized to the truth of my own body. I don’t really know how else to phrase it.

    I had told doctors for years that I was having trouble with my GI tract, I had seen three different specialists and each one had brushed me aside.

    I had told doctors for years that I was anemic, everyone just kept telling me to take iron and then brushed my aside.

    Same with my inability to regulate my temperature (I’m always cold, my feet are so cold they hurt, and I don’t get fevers), my migraines, my #Anxiety (for no apparent reason), and on and on and on. Eventually, I stopped believing things were problems, and kept brushing them aside just like the majority of doctors had done for the past 14 years.

    Now let me clarify, this is not the case for all of my doctors. I have been beyond blessed with certain doctors who I firmly believed saved my life. Pain management, chiropractors, neurologists, and others who have helped me so, so much. And they are the ones who never gave up on me, and they were the first to recognize and openly admit that there was something going on. We just couldn’t find what it was at the time.

    My sophomore year of college was when things really began to decline physically for me. It didn’t appear to be a steep slope, but in hindsight, it was definitely there. It may have been a mild bout with West Nile (yes, seriously), which could have triggered new symptoms, or simply the stress and drama of college.

    I was finally diagnosed with endometriosis, which I was able to begin treating properly. My anemia (which I would later find out was actually #Thalassemia (small RBCs)) had worsened, and my episodes would become so severe that I was forced to drop two semesters of school, and move one to fully online classes.

    I could feel my body getting weaker and weaker, but I didn’t know why. Every doctor I went to at the time just kept repeating the same thing: I was fine. But the reality was my body was falling apart.

    In early 2018, I was working in a kindergarten class, which I just loved, when I really began to decline. By this time I was having 3-5 bi-lumbar sympathetic nerve blocks done each year. Living in San Antonio, I made my way to Houston for the block. Everything went great. I returned to Houston a month later for a follow up block, which, hypothetically, should enable me to go without an flare-up for at least 6 months. However, when I came out of that procedure I knew something was wrong: a small spot on my right thigh felt off.

    By the end of the week, I was in an excruciating amount of pain. My doctor, to this day, has no idea what went wrong. I was on hydrocodone, a muscle relaxer and a prescription lidocaine patch round the clock for more than three months. But the problem was there was technically nothing wrong. It was like my nervous system just began overreacting for no apparent reason (the pain was different than my typical nerve pain, and it was up my back as well as down my legs). There was just no explanation.

    But one day, after an anaphylactic reaction from MRI contrast, the pain began to go away.

    Again, it made no sense.

    For a few months I returned to a normal life. I began seeking out doctors who could find out what had happened, and who might be able to prevent it from happening again. But soon I began having other symptoms. By October I was dealing with severe migraines (including a #HemiplegicMigraine that mimics #Stroke symptoms), tingling hands and feet, muscle weakness, severe lethargy, and vertigo. My had become such a problem at that point that I spent anywhere from 50-70% of my time on bed rest. The rest was spent recovering in a wheelchair, with a walker or a cane. My balance had become so bad, accompanied by the tingling and numbness in my hands and feet, that I was always having to use a cane. I hadn’t driven. And I was getting more and more tired all the time.

    By early April I had begun to develop what I would later find out was pneumonia. I’m allergic to pseudoephedrine, which is a main ingredient for a lot of inhalers. So even though I was having a lot of trouble breathing at this point, I was sent home with only prednisone and a z-pack.

    We returned to the same place (mistake!) after the weekend because I had begun having left chest pain, severe dizziness, and more difficulty breathing. I was shaking terribly during the EKG and they results that came out were abnormally flipped T-waves (to be honest I still don’t know what this means), but they told me it was probably just because I was shaking. I would find out later this was not the case. After my EKG they took my back to get an Xray of my chest to see if the pneumonia was gone (they had not done one the first time). I was instructed to hold my arms above my head during the Xray, and when I did I fainted twice.

    Because my Xray came back clear and my EKG was “normal” they said I was fine and could go home. I had to insist upon them giving me some sort of inhaler, which they eventually did. And that was it.

    Let me just say that I made the mistake of walking into a “ready clinic” and it could have cost me my life. Yes, they were under-qualified to offer a diagnosis for what I actually had, but they should have sent me to the hospital immediately. And they should have. Instead, I returned home with an albuterol inhaler thinking, once again, that nothing was wrong.

    I made it to a primary care doctor Friday, who gave me a second inhaler and wanted to see me for a full physical the following week. He said he could tell something was going on he just didn’t know what.

    That Sunday was Easter Sunday. I made it to church with my family, where I was rolled around in my wheelchair, but remained entirely out of breath. Afterwards, when I was moved into the car, I quickly passed out for the third time, right onto my brother’s shoulder. We rushed home and my family ran inside to grab me something to eat (I hadn’t eaten breakfast that day and we figured that is what it was–not realizing it was #OrthostaticHypotension), and my inhaler to open my lungs. As I waited outside in the car, I opened the door to say hi to the dogs and (with my seatbelt still on) passed out again.

    I continued pushing through the day; and I pushed through Monday when I got worse and fainted again. Tuesday my mom and I went to my first appointment with Occupational Therapy. I chose to use my walker instead of my wheelchair, thinking that with the pneumonia gone my lungs just needed to stretch again. By the time we met with my OT she took one look at me and knew something was wrong.

    She asked how long I had been breathing so heavily. I told her I was recovering from pneumonia.

    She asked why my heart rate was so high, and why I was shaking. I told her I figured it was the albuterol from the inhalers.

    She asked how many times I had fainted. I told her at least four, but that I figured my body was just weak.

    She asked how long my blood pressure had been so low. I told her my mom’s always runs low too so I didn’t think anything of it.

    She said No. Something is seriously wrong with you.

    I had been told by so many doctors for so many years that any symptom I had was explained by something else, that after a while I guess I started to believe them. And I didn’t recognize my life being in danger because I had been trained for so many years not to trust myself or my body.

    She took my blood pressure and heart rate sitting down, and then called someone else over to hold me while she took it as I stood. As soon as I stood up I just dropped like a sack of potatoes. She called 911 and after an EKG (that once again showed I had abnormal flipped T waves) and a second #Fainting spell we were off in the ambulance to Methodist hospital in the Houston medical center.

    It took about five minutes for them to tell me they were admitting me. It had gotten so bad by then that any time I lifted my head off of the pillow I would get extremely dizzy or pass out all together. I was in the hospital for seven days. They ran every test imaginable. Initially, when I was first in the ER they told me that they were going to be looking for either a #BrainTumor or a hole in my heart. But time after time, test after test, they came back with nothing. Everything was “shockingly normal.” I began to be extremely discouraged. I was afraid that the doctors would come back and eventually tell me there was nothing they could do, or once again decide that there was nothing actually wrong with me.

    But boy was I wrong about Houston Methodist. They refused to give up. They continued to believe me, respect me, examine me, and listen to my body.

    After being under observation for seven days, they can pick up on things that I had convinced myself weren’t things worth mentioning. Things such as constant nosebleeds in the morning, night sweats, overactive reflexes, and something that neurology noticed that I never had: over-dilated pupils.

    After a few days, the neurology team diagnosed me with #Dysautonomia (a dysfunction of the autonomic nervous system, which is the system that controls things “automatically” in your body. Things like blood pressure, heart rate, digestion, nerves, temperature regulation, etc.). I was more specifically diagnosed with #AutonomicDysfunction across multiple organ systems.

    Yeah, it’s not great. But I will say it explains a lot! It turns out a hallmark of Dysautonomia is how difficult it is to recognize because there is no definitive test for it. Any MRI, CT, blood test, etc., will come back completely normal. I guess that’s why no one could find it in the first place.

    Anyways, come to find out that five of the medications I was on were making my Dysautonomia significantly worse. For a normal person with , or a normal person with any of the conditions the medications were prescribed for, it wouldn’t have affected the individual the way it did me. But because of my , the combinations of these medications could have literally killed me. Getting the pneumonia and ending up in the hospital is not only got me my diagnosis, but also probably saved my life.

    Since my release from the hospital, it has been a bit of a whirlwind. I dealing with doctors who are in disagreement about the severity of my condition, ranging from I don’t have it at all (which I don’t buy for a second) to some very scary, intense conversations.

    Now, after 14 years, I finally have a diagnosis. And for that I am so grateful.

    But I’ll be honest. It’s a scary diagnosis.

    I still don’t know what all systems I have in. At this point, it’s a matter of getting into all the specialists who know how to treat the condition, and doing it in a timely manner. It takes an average of 5-6 years for a person to get diagnosed with this condition, for the same issues I experienced. But it took me 14. Probably because mine began when I was a child, and my first system to malfunction was my sympathetic nervous system (the ), which is pretty rare, as well as my reproductive system (endometriosis) and my GI tract. Plus, most people with have POTS (#PosturalOrthostaticTachycardiaSyndrome), which I don’t have.

    Right now my biggest issue is learning how to trust again.

    Learning how to trust the doctors who treat me, which is difficult at the moment considering none of them can agree.

    And learning how to trust my own judgement in regard to my body. The thing about this condition is that any part of my autonomic system can start malfunctioning at any time. Which means I have to be able to learn to differentiate between what is normal and what isn’t within my body. But that’s really hard when I’ve been told constantly by numerous doctors over the years that I’m, in short, “being dramatic.” I have to retrain myself, and to readjust my thinking. And it’s been really difficult.

    But for now, the two big things on the agenda are Baylor Neurology and getting into the cardiologist. I was told in not so uncertain terms that the biggest threat to my life with this condition, and the thing that I need to focus my energy on first, is my heart. It’s the thing that kills people with Autonomic Dysfunction. Unlike the other systems, there is no warning, and no time when it decides to stop working. It can start beating too fast, or too slow, or just stop all together.

    Considering I am already dealing with low blood pressure and high heart rate, as well as weird breathing problems, we knew we had to get in ASAP to a good cardiologist. I’ll find out soon if I’ll be getting a pacemaker and/or if I can get on the medications. But at the moment we are just having to be as careful as we can and trust in God’s plan. I go in June.

    #MyastheniaGravis is a of the lungs, and that already runs in my family: my aunt, great-grandfather and a distant cousin all have it. So that is something else I will have to be looking out for.

    Just yesterday I was back in the ER with what might be #Gastroparesis, which means my stomach nerves/muscles aren’t emptying my stomach all the way. So… that’s great.

    So these are all things I have to watch out for. It’s a lot, trust me I know. And it’s infuriating to know that I have had this condition for 14 years. And I am honestly deteriorating at a rather rapid rate now, I’m always in a wheelchair and I’m usually in bed. I can barely leave the house, I’m constantly in pain, and I’m even struggling to read. And a part of me is so angry and devastated that it wasn’t caught by the dozens upon dozens of doctors that saw me before.

    But at the same time, as a dear friend pointed out to me, I’ve had this condition for so long, and I have been severely sick so many times, it could have been much worse–considering the condition I had (despite the fact that no one knew). I got a stomach bug in Uganda on a mission trip; as I mentioned before, I had West Nile Virus; I have had injuries, and traumas, and flare-ups and opportunity after opportunity for something really, really bad to happen.

    So though I am struggling to trust many people at the moment, including myself, I will continue to trust and hope in the Lord.

    He is El Roi, the God who Sees.

    He is Rapha, the God who Heals.

    He has brought me this far.

    And He’s never failed me yet.

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    Community Voices

    Love Doesn't Count Chromosome

    In 2016, somebody I knew from a support group in Facebook contacted me for asking my permission to use my son’s photo in a post about genetic/chromosome disorder: 22q11.2 deletion syndrome or widely known as DiGeorge Syndrome. I hardly said yes, because deep inside I am not ready to share this news to the world, I am not prepared enough to the judgment people will throw at me and my son, but then I realized that I’d never be ready.

    In 2015 Dario was born and we had been hit by some major storms: Heart attack, critical conditions, Open heart surgery, respiratory failure, post-op severe infections, pneumonia, sepsis. Then we were informed that he has a complex and extreme Congenital Heart disease: Tetralogy of Fallot with Pulmonary Atresia, Mapcas, ventricular septal defect plus subclavian lusoria. Long story short, we almost lost him in a way we never could even imagine. You can read it here. Huft, these were too much for us as new parents but turned out that this condition is just the tip of an iceberg.

    Back in the end of March 2015, after Dario’s first 10-hours open heart surgery to save his life, surgeons informed us that Dario doesn’t have thymus gland (a lymphoid organ situated in the neck of vertebrates which produces T-lymphocytes for the immune system) and that lead to the suspicion that he has a chromosomal disorder 22q11.2 deletion syndrome. We tried not to faint and maintain our sanity while pulling ourselves together. “They aren’t sure,” we said, there’s still a possibility that surgeons might have missed it (thymus gland). In fact, we were wrong.

    In July 2015, Dario was admitted in the hospital again to check his overall condition and as we expected, Medics suspect he has ‘more than just a congenital heart disease’. I, my husband and Dario had our blood drawn to be checked in the laboratory for a genetic test called FISH (Fluorescent in situ Hybridization) test, and a month later we received our results. While me and my husband wondering if either or both of us got genetic disorders or chromosome disorder or anything related (our results came out as normal by the way), we were pretty much certain that Dario has something ‘unique’ in him. It turned out to be true.

    Dario has a positive result in a FISH test that means he has some or microdeletion in his chromosome 22 in the long arm of q11. In other words, He’s missing a small piece of genetic information in his chromosome 22. His case is de novo in terms that it is non-inherited. If you asked me back in 2015, I don’t know what the heck is this shit and why my son is crippled by this so-called microdeletion. Now that I am wiser and calmer, I can say this deletion change the way I see the world in general, imperfection is a part of nature!

    , what is it actually?

    This or also known as DiGeorge syndrome and other names based on the symptoms is a genetic/chromosome disorder in which chromosome 22 missed or got some amount of deletion in a specific location known as q arm 11.2. Fyi, in humans, each cell normally contains 23 pairs of chromosomes, for a total of 46, Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between male and female. Female has two copies of X chromosome while the male has one copy of X chromosome and one copy of the Y chromosome. So the missing part of Dario’s gene is actually in the latest pair of non-sex chromosomes, which affect some body features. This deletion occurred as common as 1 in 3000 -6000 live births and the range of associated clinical features are broad and variably expressive in each person. These features include immunodeficiency, congenital heart disease, palatal defects, hypocalcemia, #Dysphagia, renal anomalies and developmental disabilities (Mcdonald-McGinn et al., 2015). About 90 percent cases of this syndrome occurred as an effect of new mutation of embryo early development (de novo), while the rest 10 percent are inherited from parents. It is said that 22q could have more than 180 symptoms.

    As a genetic/chromosome disorder, THERE IS DEFINITELY NO WAY TO PREVENT AND CURE this condition but multidisciplinary approach including a thorough medical check-up and care management. Prognosis depends solely on how severe the symptoms each patient has, the mortality rate can be high for and immunity problems even those who are missing the thymus gland and the absence of T-cells can die prematurely. Nonetheless, if all symptoms are managed well, life expectancy can be even normal.

    How it affects Dario, Does he need care management

    Frankly speaking, never have I expected that this deletion can cause so many defects in Dario’s body features, because as the genetic and chromosome disorders, any person who is affected can’t be compared with the others, in a sense that certain common symptoms might be absent and replaced by other rare symptoms. There is no way to know what symptoms your kid might have, you just have to wait and see because this deletion can affect different parts of organs. You know, so basically you have to be ready for every freaking possibility.

    So yes, we follow 22q care management protocol.

    Heart and Lungs

    In Dario’s first year of life, as you know we learned that he has a congenital heart defect which also affects his lungs. His lungs perfusion is 37 percent on the right lung and 63 percent on the left lung respectively. This lungs problem could bring a high risk for Dario especially during the intervention and infection episodes. I have to say, Dario’s heart and lungs are the ones that got the severe impact and it makes me worried to death. I just hope that his body bounce back and he could go through all procedures and medical intervention needed to mend his heart and lungs. So far Dario has gone through two times open heart surgery (central shunt in IJN March 2015 and Unifocalization with homograft patch in Padova University Hospital in September 2015) along with numerous times of catheterization, angioplasty, and scintigraphy. He has more open heart surgeries to come as soon as next year because his heart and lungs are still far from being ‘fixed’. He has also lots of hypoplastic arteries as well, that compound his heart management.

    Dario’s heart and lungs would never be as normal as it can be and he should be monitored for the rest of his life. We just hope that we won’t have that fatal episode where he has to get a #Transplant either for his heart or lungs.

    The absence of Thymus gland

    As I said above, we knew that Dario missed thymus gland from the surgeons in Kuala Lumpur (IJN) While they were fixing his heart through open heart surgery, they found that Thymus gland was nowhere to be seen. The thymus gland is normally seen in between the lungs behind the sternum, and for people with 22q could have lots of problem in their thymus but the worst is its absence.

    So what is it this thymus gland, why looks like this is so important? well, the thymus gland is one of a kind, its function is pretty crucial for babies and kids for its assistance in fighting unwanted bacteria, virus, fungi. Human’s immune system is guarded by the cellular immune system in which lymphocytes play a great role. There are two lymphocytes to support this system: T-lymphocytes and B-Lymphocytes in which both originated from stem cells in the bone marrow. The thymus is significant in the development of T-cell for its control over the maturation of T-lymphocytes. Some T-lymphocytes (cytotoxic T-lymphocytes) is greatly known to be able to directly kill viruses. Back to the human immune system, T-lymphocytes is helping B-lymphocytes to develop into antibody-producing plasma cells. People who are affected by 22q deletion syndrome may have poor T-cell production due to Thymus anomaly and as the result, they are prone to viral, fungal and bacterial infections.

    Prognosis seemed bad at the beginning of this diagnosis but soon we learned from the immunologist that Dario’s body compromised to this condition and T-cell production is even as close as in normal kids.

    He is now still under control and should be doing blood and other immunological tests once in a year.

    Last September when we decided to enroll him to pre-school, he coped with the school environment quite well but got three times of infections, a combination of bocca and rhinovirus and lead to bronchospasm and bronchiolitis. Doctors were surprised that he was doing just fine, though with blocked respiratory airway and plummeting Spo2, and they decided to keep him in the hospital for screening and observation. We came home on the 5th day and he is now doing well at home.

    Left Renal Hypodysplasia

    At the age of 6 months old, right after the second open heart surgery, through nephrological screening, we knew that Dario’s kidney got some anomalies, one from two of his kidneys was underdeveloped and got a risk of totally dysfunctional. A year after that, through the same test and scintigraphy, turned out that left kidney was definitively dysfunctional, but it was still there and allegedly shrinking over time. I can say, this made me so mad and I was crying for days knowing that he should be living with only one kidney for the rest of his life and the fact that he still needs many times of surgery later in the future. You know, kidneys get injured so easily during the medical intervention and it got me crazy.

    Some months ago, we did a control check-up of his kidneys and we got some good news: his right kidney that now acts alone is getting really big, even bigger than most kidney in normal kids. This kidney now doing a full-time job to cover the responsibilities of both kidneys. The left kidney though shrinks slowly, but nephrologist told us that it won’t be surprising if one day this underdeveloped kidney could make its come back, there are some cases of like this on their record. Now we can be calm for a moment.

    Enamel hypomineralization/hypoplasia

    If you asked me, which part of Dario’s care management that depresses me so bad, I’d answer it without hesitation, it would be his teeth. His damn teeth that none ever believed in me that something seemed fishy about his teeth’s overall appearance, at first. In the first year of his life, I contacted his pediatrician to consult whether or not he needs his teeth checked, a pediatrician told me that now it was not necessary for him because other things are having more urgency. I said, well okay, then at the age of two, he was having bad times of eating, wanting only to drink milk and other liquid food. I was having a great suspicion over his teeth, but I brushed it under a rug.

    February 2018, eventually we managed to get an appointment with one renowned pediatric dentist in our town and she referred us to one center outside the town. My suspicion was on point, Dario had to do a small surgery to extract 8 of his frontal teeth and fix the rest of them. In May, Dario finally got surgery to remove his broken teeth and fix the rest of his teeth. He has a mild-severe enamel hypomineralization that makes his teeth prone to having tartar and tooth decay. His coming permanent teeth could be having the same problems so he needs an annual check with a specialist.

    For now, over this problem, I am determined to find a good solution through medical breakthroughs like stem cells fillings and sort of that, but deep down I hope Dario’s permanent teeth will be at least 80 percent as normal as in other kids. Finger crossed.


    22q never fails to surprise me and it’s freaking annoying. At the age of two, one physician stated that he had a great risk of developing quite severe scoliosis, and yeah, again it turned out to be true af.

    Scoliosis is a spinal deformity in which the vertebrae has lateral curvature and certain rotation. The main causes of this spinal deformity can be from congenital, neuromuscular, syndrome-related, idiopathic or even secondary reason.

    December 2017, we got an appointment with a pediatric orthopedic and he looks awed that Dario’s backbone condition seemed unreal for kids like his age, but he said, we were going to observe and we had to come back in October. In October though, it took like less than 5 minutes to decide that Dario needs a brace, orthopedic brace. His backbone is curved, kinda crooked to 20 degrees compared to the normal backbones. “We can’t wait any longer, he has to wear this bustino (braces) for 18 hours a day along with a special therapy session with a physiotherapist.” 18 hours, geez, this made me shiver, 18 hours of managing your kid wearing the most uncomfortable thing on his body. He’s gonna cry a river or maybe a lake for this.

    In addition, the orthopedist told us that it wouldn’t be a surprise if one day Dario has to go through a spinal surgery due to his scoliosis severity. But, he also stated that the risk depends on how his body reacts to the braces, braces itself can reduce the risk up to 50 percent.

    Developmental delay and cognitive difficulty

    Dario is having a developmental delay, this is a fact but he is surely catching up. Upcoming January he will be 4 years old and yet he only speaks some words equal to a 2-year-old baby. Am I worried? sure yes, Am I upset? No. To be honest I keep doing my best to help him catch up his delay. You know, some days I see other people’s kids and wonder why Dario isn’t like them, some of them are even affected by CHD and chromosome related disease, but they seem to be having lots of great progress (at least from what I see from their social media). Then I realized that their health conditions are far better than Dario’s. Their oxygen level is above 90 percent along with two functional lungs and perfect kidney, plus they don’t have muscle and bone problems. My son with his defects which are quite severe and major can pull out things he actually shouldn’t, for instance walking and eating by himself or doing stairs back and forth (he gasps for air afterward though). He may not be quite verbal now but he soon will be. I am positive about this.

    All he needs (which I believe every kid does) is never-ending stimulation, determination from parents, doctors, and therapists that he can be the best version of himself, make progress no matter how small it can be, keep moving forward and be content with what he has.

    ASD related behavior

    Due to his non-verbal condition (speaks only some words) his neuropsychiatrist stated that he might develop some ASD related behavior. He is not having though, only that he has some behavior that may relate to it. The full diagnosis can’t be obtained now, and we are waiting until he reaches 5 years old to be able to get some clarity over this thing.

    Having an related behavior doesn’t mean one can have it. Behavior can change, even disappear by therapy and stimulation and once he gets to speak on daily basis. A kid can develop related behavior due to lacking experience of socializing because of longer hospitalization or being sick constantly. Pediatrician, Neuropsychiatrist agreed that Dario may need more experience with other kids so that he could turn this condition out.

    So far, Dario understands commands, makes eye contacts, sleeps well, behaves well, understands how to play things and attaches to me and his papà.

    #Hypotonia and pronation

    I remembered when Dario was born, he didn’t cry as loud as other babies, he was lacking muscle reflex as I noticed. Through all the medical intervention, we were informed that his muscle is floppy, it is not toned or dense as it should be, but the good news it can be improved over time.

    Due to hypotonia, he also develops a flat-foot condition known as pronation. This too can be improved over time by physiotherapy and occupational therapy. He also has to wear plantari along with his high tops shoes. He’s banned to wear sandals or barefoot. I am glad for these things.

    Challenge, Prognosis, Hope, and Thoughts

    For me, the main challenge of living with 22q is the fact that it is surprising (I bet every genetic/chromosome related disorder must be, as well). Each year, I am filled with fear that I will discover another defect. Every day I am trying to not miss any details about how Dario acts and does things as they might help physician or medics to understand this so-called #RareDisease.

    We have been followed by Padova University’s Malattie rare department and I can talk to several specialists if I want to, for free. I am glad that we’re living in Italy where Dario could get every medical assistance and coverage without us spending money. Dario is considered having a #Disability because he is the member of ‘Rare Disease’ Italy and he gets monthly allowance plus other financial support, this is the thing he wouldn’t be able to get if we kept living in Indonesia. For this, we are so grateful, I can say, we are so lucky, as the main challenge for this kind of genetic and chromosome disorder is finance. Each defect means another specialist appointment which could cost a hundred euros if not thousand euros not to mention the tests and intervention. Therefore, my heart goes to all of my friends, the brave parents who try to manage to pull these things out. Kudos for you guys.

    The prognosis seems positive for Dario, but we keep our fingers’ crossed.

    As for our hopes, we are having great expectation that one day we could prevent this to happen. These years, I notice some medical breakthrough that could be the key to prevention. Gene-editing CRISPR/Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats) is widely cheered up as one to reverse diseases related to gene and chromosome. Lots of medical publication have covered this breakthrough, and some centers have already applied it to treat Bart syndrome, #DuchenneMuscularDystrophy, #Hemophilia, Thalassemia, and #CysticFibrosis.

    Community Voices

    Attitude is the key #52SmallThings

    We're in training spiritually and our attitude is our key to allowing us a tomorrow. Things have been rather difficult.  This is a major negative result of long-term depression when physical symptoms of aging play into the deck ... chaos!  My home is in total disarray.  To just give us dinner at night, I have to bring my focus into the foreground and deny any other project or need.  I have to breathe deeply, isolate parts of the project and follow through.  This is what everything demands in my environment, but I cannot tell you how dissolute my mind is ... I use television to focus and derive some peace.  Then I have to be honest and realize that I have preempted life and have chosen to live vicariously through the dramas and romances of the television ... I especially love redemption morality plays.  The truth is I'm afraid of the long years of pain which began as a child of abuse ... but I have rationalized my experience to see the good as scripture directs and as I understand.  I am absolute when I say I am a survivor ... but, being so close to suicide, I have sort of tread water, or skimmed, through life for I suffer from a feeling that I am truly not invited to the table.  Being said, I am in my sixties, I realize how amazing I am because I have developed a great deal of empathy and this gives me solace.  I have had nine hospitalizations for MH issues and even subjected myself to ECT for unrelenting depression.  I can't imagine what healthy means ... if it's not my depressed thinking that holds me back, it's my deeply tired feeling from a blood condition called thalassemia; and then, of course, it is the residual fear and guilt that clouds my mind.  Yes in the '70s I recognized the loss I had become and I came the closest to suicide ... it truly was a value judgment.  The only thing I know is that after I would have eliminated my self, I would have lost the opportunity to help others (and specifically my family) ... if I allowed my despair to become dominant, I would have lost whatever power God gave me ... to connect and help.  For me, that is my primary purpose ... but I recognize the scripture to wholly love God and to love others as you love self ... so I am trying to develop a healthy relationship with self:  physical, mental, emotional and spiritual ... the physical is my most difficult connection which is a product, I believe, might be from my childhood abuse.  There is much talk about PTSD and while I haven't been in the military, I am in a war.
    Congrats to all who can connect with me for we are all survivors!  One main concern:  those who have been victimized can often find themselves becoming a victimizer in a reactive protective effort ... don't become a statistic, don't allow yourself to become part of the problem and not be the solution.  Remember, we all have power if we stay in the moment.  I may have difficulties loving ... but in a spiritual sense I love you all (agape).

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    Community Voices

    Searching for a Lyme disease Doctor

    #LymeDisease . Need to get tested for Lyme disease and start treatment if that’s what I have and not Lupus. I can’t take Lupus medications due to my Thalassemia most medications alter an lower your RBC which causes more problems. I’m tired of putting a band aide on my situation and need to get to the root of the cause and fix it.

    5 people are talking about this
    Community Voices

    #LymeDisease the LoneStar Tick

    #LymeDisease as a kid I was always picking ticks off me after playing outside. Now they say the Lone Star Tick here in Texas can give you Lyme disease. I was diagnosed with SLE Lupus. But wonder if it’s Lyme not Lupus. But they also say you can have both. Hope not because I have Thalassemia a genetic blood disorder I was born with. My symptoms are spot on with Lyme disease, rashes, horrible chronic pain that has spread to all my joints, hips, knees, back, neck etc. and now I believe it’s effecting my CNS... Heart, Kidneys, everything. My symptoms are chronic an have just gotten worse not better. Which tells me if I do have Lyme it’s in the late stages an I’m hoping I can get it cured but I read you can’t once it’s this far along. But I am a fighter, stubborn and believe I will find away to get rid of this from my system. If there’s a will there’s a way.

    3 people are talking about this