Severe Combined Immunodeficiency (SCID)

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    5 Things to Know About Severe Combined Immunodeficiency

    Severe combined immunodeficiency (SCID) is a type of primary immunodeficiency, meaning some of the necessary parts to build a functioning immune system are either missing or not working in the body. It is the result of genetic mutations that primarily affect the T cells, and often at least one other type of immune cell. The diagnosis is considered a pediatric emergency. Babies born with SCID typically only have a few years to live without any type of medical intervention or treatment to address their weakened immune system. According to various medical journals, the first case of SCID found in humans was reported in 1950. The first molecular cause of SCID (adenosine deaminase deficiency or “ADA”) was identified in 1972. Reported clinical cases revealed babies with SCID were at an increased risk for developing infections that had the potential to become fatal without a functioning immune system to fight it. As someone born before the diagnostic measures and transformational treatments available today, I consider myself lucky to have even received a clinical diagnosis at only 2 years old. My parents relentlessly pursued over 40 doctors within those two years to be able to put a name to what was causing my symptoms and failure to thrive. To parents reading this: I’m even luckier than I previously admitted. I was able to receive enzyme replacement therapy for SCID-ADA, which kept me alive until I took part in the first gene therapy trial in the world, at 4 years of age, in 1990, at the National Institutes of Health. I am forever indebted to my parents for being willing to take part in what was probably the most experimental and controversial clinical trial at the time, while still caring for two other kids with physical disabilities, and the doctors who chose to invest in rare disease research. Within the past 30 years or so, particularly for X-linked and SCID-ADA, an enormous amount of progress has been made in attempting to identify, research and treat this rare syndrome. Currently, there are at least 13 different types of identified SCID, with various “unknown” types still being discovered. X-linked SCID (primarily affecting boys), is the most common form, representing about 40 percent of SCID cases. SCID-ADA is the second most prevalent type of SCID, identified in approximately 15 percent of cases. The story of David Vetter, known as the “Bubble Boy” in the 70s and 80s, brought SCID to the forefront of the medical community and the world. Photos of him in his protective bubble, designed to act as a barrier between him and outside bacteria and germs, captivated the hearts and minds of all who followed his story. To SCID families, David is a hero and the epitome of strength and hope. Though his life was short-lived, his advocacy and help propelling research forward for SCID are etched in medical history forever. For those interested in SCID, here are five more facts you should know. 1. Better Screening Protocols Allow for Earlier and More Diagnoses While SCID was previously thought to affect approximately one in 100,000 in the US. The advent and implementation of newborn screening have increased the prevalence to approximately one in 58,000 children diagnosed each year. SCID cases are more frequently diagnosed in the Navajo, Amish and Mennonite communities. 2. Symptoms Appear Very Early in Life These include general failure to thrive, frequent ear and/or sinus infections, infections that don’t improve with medicine, persistent skin rashes and/or infections, diarrhea, and yeast infections. Babies or children may exhibit some or all of these symptoms, but severe infections, whether in the bloodstream or lungs, like pneumonia, are most common. 3. Early Diagnosis Is Critical Because of the high mortality rate associated with SCID if left untreated, interventions have been necessary to ensure babies are diagnosed as soon as possible. Enter in newborn screening, a life-saving measure for many rare diseases, especially those that progress quickly after birth. Through tremendous patient advocacy efforts over the past 10 years, all states within the US now implement newborn screening for SCID, meaning babies can be diagnosed at birth, and given a greater chance to thrive and receive treatment early. 4. There Are Several Treatment Options Once children are diagnosed, the available options for treatment include a hematopoietic stem cell transplantation (HSCT) with cells taken either from the bone marrow, peripheral or cord blood. Finding a matched donor can prove to be a significant obstacle for some families. Another option, especially for those who are not able to find a matched donor, is gene therapy. This potential treatment has garnered a great deal of excitement and controversy in the news and the medical community. Within the past decade, many patients with SCID-ADA and X-linked SCID who have received the lentiviral gene therapy have thrived – with some being able to even receive full vaccinations and wean off supportive treatments. Although the current form of gene therapy for SCID is often touted as a potential “cure,” it is important for families to continue with follow-up with their doctors and specialists, as the long-term effects of gene therapy are still unknown. Patients with SCID who have not found successful treatment with HSCT and/or gene therapy often will require supplemental therapies, like enzyme replacement (common for SCID-ADA), or immunoglobulin infusions. 5. Research Has Made so Much Progress but There Is Still More to Be Made There are no words to describe the gratitude for being born in a time where potential treatments are available for your particular rare disease, especially when only 5 percent of those diagnosed with a rare disease have an effective FDA-approved treatment on the market. It almost feels unimaginable to see life-changing treatments like gene therapy come full circle in my short 33 years of life. Still, as a patient advocate, I will always hesitate to use the word “cure” for treatments that are relatively new and still being perfected. While SCID families and patients are grateful for transformative therapies like gene therapy and HSCT, especially when the previous alternative was a shortened lifespan, we all need to continue to be diligent in our follow-up protocol with doctors, and keep an eye out for potential progression of the condition, should these treatments ever stop working. Newborn screening campaigns, accessible HSCT treatment centers and centers for gene therapy across the globe are still needed – so every child, regardless of where they are born, has a fair chance at receiving a diagnosis and treatment, and living life to their fullest potential. References (click to expand) Buckley R. H. (2004). The multiple causes of human SCID. The Journal of Clinical Investigation, 114(10), 1409–1411. https://doi.org/10.1172/JCI23571 Global Genes. (n.d.). RARE Facts. Retrieved from https://globalgenes.org/rare-facts/. Immune Deficiency Foundation. (2018, December 11). All 50 States Now Screening Newborns for Severe Combined Immunodeficiency (SCID). Retrieved from https://primaryimmune.org/scid-compass/news/all-50-states-now-screening-newborns-severe-combined-immunodeficiency-scid. Immune Deficiency Foundation. (n.d.). SCID Overview. Retrieved from https://primaryimmune.org/scid-compass/scid-overview. Immune Deficiency Foundation. (n.d.). Severe Combined Immune Deficiency and Combined Immune Deficiency. Retrieved from https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/severe-combined-immune-deficiency-and-combined-immune-deficiency. Immune Deficiency Foundation. (n.d.). Stem Cell and Gene Therapy. Retrieved from https://primaryimmune.org/treatment-information/stem-cell-and-gene-therapy. Immune Deficiency Foundation. (n.d.). The Story of David. Retrieved from https://primaryimmune.org/living-pi-explaining-pi-others/story-david. Immune Deficiency Foundation. (n.d.). Types of SCID. Retrieved from https://primaryimmune.org/scid-compass/types-scid. Kuo, C. Y., & Kohn, D. B. (2016). Gene Therapy for the Treatment of Primary Immune Deficiencies. Current Allergy and Asthma Reports, 16(5), 39. https://doi.org/10.1007/s11882-016-0615-8 National Marrow Donor Program. (n.d.). BeTheMatch.org. Retrieved from https://bethematch.org/. National Organization for Rare Disorders. (n.d.). Severe Combined Immunodeficiency. Retrieved from https://rarediseases.org/rare-diseases/severe-combined-immunodeficiency/.

    Community Voices

    Putting it all away?!?

    <p>Putting it all away?!?</p>
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    Yesterday, my condition felt a little less "rare"

    After being diagnosed with #scidada at 2 years of age, I have only known one other person with it who was around my age. And for that, honestly I am grateful, because I know many have not had the opportunity to connect with someone else who has their rare condition.

    Many of the people living with SCID-ADA are young children. Just knowing one other person my whole life, still felt a little isolating, because we both knew others were out there, but little effort was made to connect the two of us with them. We wondered, what's going to happen to us, 5, 10 years from now? Or why is this specific symptom happening? There was no way to know what was "normal."

    And yesterday, by the means of some higher power, a 33-year-old with SCID ADA joined our online group. My heart was bursting. She said she also struggles with chronic pain and lung issues. And somehow, while I was disheartened to hear she was experiencing those things, I felt so good. I didn't feel like I was the only one experiencing this kind of pain with my condition. And so yesterday after 32 years of feeling quite alone with SCID ADA, I felt a little less alone and a little less rare. #CheerMeOn #RareDisease #SevereCombinedImmunodeficiencySCID

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    When #darkthoughts become a part of your #ChronicIllness

    I don't like to often admit they're there, but inevitably, dark thoughts can creep in when you're dealing with illness constantly. Sometimes it's helpful to share them, so you realize it is normal to have these thoughts, and it's ok to go into the darkness sometimes -- as long as we don't stay there. For me, one thing I think about often is my mortality, and that in patient advocacy, especially for #RareDisease , many of those I know are scared every day about how long they'll live. It is sad and frightening. Do you have #darkthoughts ? Feel free to share and feel less alone with them. #ChronicIllness #SevereCombinedImmunodeficiencySCID #MentalHealth

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    Amelia Vale

    Why We Need to Keep Pushing Newborn Screening for SCID

    “David the bubble-boy” whose life in isolation first graced our screens in the 70s, was kept alive for 12 years. Babies born today with the same immune disease are dying before their first birthday as authorities falter over newborn screening programs. As soon as David Vetter entered the world, he was diagnosed with Severe Combined Immunodeficiency (SCID). His parents had already lost a child to the genetic immune disorder, so they were bracing themselves for the worst. SCID became known as “bubble-boy disease” because David was born in sterile isolation at Texas Children’s Hospital, and thereafter grew up inside a plastic bubble at home. Jamie Thorndyke was also born with SCID, but unlike David, he was not diagnosed at birth. Jamie spent most of his short life blind, brain damaged, immobile and on life-support. But this was not February 1984, when the realms of science fell short of saving David, it was February 2017, when bone marrow transplants and pioneering gene therapy were available.   If Jamie had been diagnosed at birth like David, chances are he would still be alive today. However, Jamie was born in the United Kingdom, where babies don’t get such chances. The simple $3.20 blood test that could have prevented his death is not mandatory in the UK. With several states in the United States, and most countries around the world still to adopt the test, countless lives are hanging in the balance. SCID affects approximately 1 in 58,000 babies. The disease is caused by a faulty gene, IL2RG, which provides instructions for making a protein which is necessary for our immune system to function. Specifically, T-cells and natural killer cells do not develop properly, therefore, affected babies are defenseless against the slightest germ. Without early diagnosis and treatment, babies rarely make it to their first birthday. Yet, it has taken five years of campaigning for SCID to be seriously considered for screening in the UK. On Friday August 4, the UK National Screening Committee launched a public consultation on whether a pilot programshould be run in the National Health Service to test the waters. “This is a step in the right direction, but such trials in other countries have resulted in full scale implementation so it appears to be taking the long route,” Jamie’s mother, Susie sighs. With the consultation running until early November, Susie has fired up a petition to garner worldwide support. “It makes no sense that parents continue to go through this agonizing ordeal when it can be prevented by such a simple test,” Susieimplores, “I understand money is a consideration, but when I think of the months of round-the- clock care Jamie needed, the sums just don’t add up.” When a plump 8-pound baby squealed his way into the world in February 2016, Susie Ash and her fiancé Justin Thorndyke, from Norwich, were overjoyed. Jamie soon became the centre of attention at home, with his brothers, Ollie and Ethan, fascinated by the new arrival. But after Jamie’s first vaccinations at 5 weeks old, he instantly developed a cough which quickly led to pneumonia. The next few weeks saw Jamie in and out of the local hospital and doctor’s surgery. Despite numerous tests, doctors assured Susie and Justin that Jamie had a chest infection which would eventually clear. So, when Jamie started having seizures, it was a real shock. With Jamie rapidly deteriorating — he was on oxygen, a feeding drip and had become totally lifeless — Susie and Justin asked for him to be transferred to the renowned Addenbrooke Hospital. When Jamie was eventually moved, a battery of tests showed the full extent of his condition. Jamie’s body was so riddled with infections that he had lost most of his sight and scarring from the seizures had left him with irreversible brain damage. “All of a sudden we went from worrying about a baby with a chest infection to having a severely disabled child in a critical condition,” Susie recalls, “they finally told us that Jamie had SCID but it had taken over three crucial months to get this diagnosis. I started having flash backs of all the life-threatening situations he’d been in. He had even shared a room with a baby who had meningitis.” Jamie was urgently transferred to Great Ormond Street Hospital in London where they specialize in pediatric genetic disorders. Months with no immune system had taken its toll on Jamie, and therefore the usual treatments for SCID — a bone marrow transplant or gene therapy — were no longer an option. Nevertheless, the doctors even tried to kick-start Jamie’s defense system by injecting him with his father’s T- cells. “The doctors at Great Ormond Street Hospital did their upmost for Jamie. All together we were there for nearly five months and they were so lovely.” By the end of July, Jamie had stabilized and was discharged back to the local hospital. “Jamie was such a fighter. He so wanted to be here,” Susie reflects. “He started holding his head up, sucking his fingers and he was even drinking from the bottle. Over the summer the weather was great and he really enjoyed being taken outside with his 4-year-old twin brothers. We even started to think that he might get strong enough to have a bone marrow transplant.” The next few months were touch and go, but by Christmas, Jamie had taken a turn for the worse. When it was clear that Jamie’s father’s cells had not taken, the seizures were reoccurring and his body had become resistant to medication, Jamie’s family and doctors discussed palliative care. “I could see Jamie was rapidly deteriorating and with no hope of treatment, I wanted him to be at home with us,” Susie says. Three weeks later, snuggled up on the sofa with none of the hospital paraphernalia that bleeped during his life, Jamie died peacefully in his mother’s arms. “Jamie’s gone to join the stars,” Susie explained to the twins. “They asked if we had seen his body floating up and even today they still ask about Jamie. I’m glad they do, but it is very upsetting and I don’t want anyone else to have to go through this,” Susie says. On the other side of the pond, Levi Looks was born at the start of 2015 with the same immune disease as Jamie. The outcome, however, could not have been more different. Levi and his fraternal twin, Colton, had only been in the world a few days when they were screened for SCID. “It was just a simple heel prick. At the time, I didn’t think anything of it,” his mother, Kala, recalls. In Michigan, SCID is identified from the same drop of blood that is already taken to test for other diseases. In the lab, scientists look for something called TREC. T-cells are defective in SCID and when a T-cell develops it produces a TREC circle. Therefore, if there are no TREC circles in the baby’s blood, scientists know there is a lack of T-cells, which alerts them to the possibility of SCID. Having spent three weeks at home with the boys, Kala and her husband Phillip received a phone call from the hospital. “They had spotted something amiss from Levi’s sample and they needed us to come straight away for more blood work,” Kala recalls. “After a battery of tests, they told us that Levi had SCID. We had never even heard of the disease so my first reaction was, ‘how can we fix this?’” As Levi would not be strong enough for treatment until he was 3 months old, the Looks were instructed to quarantine both boys at home. “Everything had to be sterile clean. We ordered our groceries online and the only visitors we had were my mother and sister and we all had to wear face masks at all times,” Kala explains. Kala realized she would not be going back to her job as a medical assistant any time soon, so she got down to some serious research. “The more I read, the more I realized how serious this was.” Kala says. At only 23 and 24 years of age, Kala and her husband, Phillip, a diesel mechanic from Coopersville, had only just gotten used to the idea of having twins. All of a sudden, Levi’s situation presented the first-time parents with a totally daunting responsibility. Levi’s twin, Colton, was not a match for a bone marrow transplant, and when no one else in the family was either, Kala became very distressed. “We didn’t know whether Levi would live or die, so this was definitely the lowest point for us,” she recalls. “When we were told about the possibility of Levi receiving gene therapy, even though it was an experimental trial, it was the boost we needed.” At Dana-Farber/Boston Children’s Cancer and Blood Disorders Center they are treating children like Levi, who have no matched donor, with their own bone-marrow cells. The doctors withdraw the patient’s cells and in the lab they use a disabled virus to insert a corrected gene into the cells, which they then infuse back into the patient. Dr Sung-Yun Pai, who is the Principal Investigator for the trial, explained the procedure to the Looks over the phone. “The concept seemed logical so at this point we became really excited. Finally, we had a plan in place and it felt like the right one,” Kala recalls. The family found the trip to Boston — ensuring Levi was covered up in the airport and on the plane — more stressful than the treatment itself. “The entire process was so straightforward,” Kala remembers. “They first operated on Levi to take out his bone marrow cells; then a few days later, I pressed a button to release the altered cells back into him. It was so simple it felt a bit like an anti-climax, but obviously it was a huge relief,” she adds. The Looks spent the next few weeks in isolation waiting for Levi’s immune levels to creep up. Less than a month later, they were homeward bound, feeling a lot happier about the journey this time around. Back at home, they were back to total seclusion, but very gradually the restrictions have been lifted. It is only now that Levi and the Looks family are verging on normality. “Levi can pretty much do everything and he’s very talkative,” Kala says. “Out of the two, he’s definitely the boss. At the moment, they are having great fun learning to ride their bikes, and funnily enough Levi tells Colton when to be cautious.” Caution is something that has been hard leant for Kala and Phillip, so they are in no hurry to send the twins to nursery. “I keep a watchful eye over the boys,” Kala admits. “Seeing them playing together gives me such a warm feeling, they look almost comical. No one would ever know what we have been through. They get along so well and it makes me think how terrible it would’ve been to have had Colton without Levi — that early blood test has meant everything to us,” she stresses. In the lab, Dr. Pai sees the big picture having analyzed a decade’s worth of data. “Typically, the children who are diagnosed by new-born screening have a 95% chance of survival. But that drops to 50% when a child is not treated before they are 3 ½ months-old and has had an infection. It really is a race against time for these patients, an early diagnosis re-gains us some of that precious time,” she emphasizes. Newborn screening was first introduced in 1960 in the US and has since been rolled out worldwide for various diseases. Today, the American government says that all states should screen for at least 30 conditions, but as with other countries, this largely depends on prevalence, politics and resources. “The UK committee will be following the international criteria when deciding on whether to add SCID to the list,” says Dr. Patricia Roberts from the Save Babies Through Screening Foundation. “Broadly speaking, this includes evidence that the test is effective, affordable, will do more good than harm and priority is given to conditions where early detection improves treatment outcomes,” she adds. Alongside 44 US states, countries such as Israel, New Zealand and the Netherlands have screening for SCID and others, including France, Italy, Spain and Sweden, are well underway with pilot studies. “It’s ridiculous the UK is so far behind. Babies are dying every year,” Susie Ash implores. “In the months since Jamie’s death, another baby in our town was born with SCID. He went to the same hospital and was treated by the same doctors and the same thing happened: it was three months before he received a diagnosis.” This baby’s life is now hanging in the balance because he was not strong enough to have the regular treatment. Unfortunately, he is not alone. To compound the issue, the UK has invested millions to ensure their scientists are leaders in the research needed to treat SCID and other genetic diseases. At Great Ormond Street Hospital, they have pioneered bone marrow transplantation and gene therapy; whereby they end up curing children who have been tested in the previously mentioned countries, whilst battling to keep British babies alive. Furthermore, recent wave of successful gene therapy trials for a range of rare diseases calls for a global push to extend newborn screening. “No baby should end up battling for their very existence when a simple test could mean a happy and healthy life,” Susie Ash asserts. “Doctors, as well as families, need to know about SCID, so I am hoping by telling Jamie’s story it makes a difference.” It has been 33 years since the death of “David the bubble-boy,” yet his life continues to make a difference. Most recently his mother, Carol Anne Demaret, helped US Rep. Kevin Brady in his proposal for the Medicare Part B Improvement Act. The bill, which was passed on July 25th, will enable patients to receive better home care. David’s high profile meant that extraordinary attempts were made to give him a comfortable and stimulating home life, complete with a custom made NASA spacesuit, and Brady recognizes the importance of extending this to patients today. Carol Anne was overwhelmed to see the legislation pass but admitted that whenever something positive comes from David’s name, there is a mix of both sorry and joy; which is something Susie Ash can relate to. “When Jamie’s consultant asked me to go to Parliament and tell Jamie’s story for the campaign, I was so ripped by grief that I hadn’t left the house in months. But as I looked at Jamie’s photos and saw the strength in his eyes, I promised him that I would speak up for babies with SCID.” Discover the heroic story of the SCID patients and scientists behind a historic scientific breakthrough in the concise 5000 word e-book, “Cracking Gene Therapy: from the first patient to the first product,” available for $2.99 on Amazon. We want to hear your story. Become a Mighty contributor here .

    Von Danse

    Boycotting 'Everything, Everything' for Inaccurate Portrayal of SCID

    Recently I was recommended a book called “Everything, Everything” by a friend, about “a girl allergic to everything who lives in a bubble house.” I thought it was great that someone was interested enough to have read it because she had a friend with multiple chemical sensitivity (which she assumed it was about). I was intrigued, and excited that some mainstream coverage was happening.   As it turns out, the main character in the book, a teenager called Maddy, lives in an air-locked, filtered, super clean “bubble house” due to a condition called severe combined immunodeficiency syndrome (SCID). This is a genetic condition where specialized lymphocytes of the immune system do not function properly. All sorts of viruses, bacteria and fungi can cause fatal illness, even normally relatively harmless ones. This disease is often known as the “boy in a bubble” disease, after the press coverage of a boy called David Vetter in the 1970s and 80s with SCID. Most children nowadays are diagnosed within a year or two due to the severity of constant infections and genetic screening. Spoiler: Maddy falls in love with the boy next door, and risks going outside to run away with him. This sets off a chain of events whereby she discovers she doesn’t actually have SCID. Her mother decided she did because she had an emotional breakdown after the death of Maddy’s father and brother in an accident. It seems a wasted opportunity. This book, and now movie, could have been a really good story about how rare illness patients can find joy and love, and provide insight as to what their everyday lives are truly like. Instead, this book lapses into tired and insulting cliches. The overprotective/emotionally disturbed Munchausen’s-by-proxy mother who imagines Maddy’s sickly infanthood to be a rare, life-threatening disease and isolates her from the world. This is a terribly harmful stereotype, one that many parents (particularly mothers) of seriously ill children have had to deal with. Doctors, neighbors and even family members have been known to call childcare services on these parents, and there have been cases of medical kidnapping by authorities. The idea that a parent experiencing these delusions could just cloister away their child for over a decade without any medical specialist review speaks more about fear-based urban myth than reality. The at-home patient living an idyllic life, hidden from the world. Maddy’s life is portrayed as rather uneventful, a dull gilded cage kind of existence. She is homeschooled online, has art projects, reads and that’s about it. Her character has not been seriously ill since she was a baby, because her mother had their isolation house built. This is completely inaccurate. In my experience, living with a non-functional immune system means serious illness will happen, no matter how careful people are. Life is a hectic roundabout of hospital visits, specialists and treatments. The patient’s ignorance and lack of motivation. The way Maddy’s character is depicted really says a lot about the common conception of the chronic illness patient. This is a young woman with internet access who doesn’t even know the basics about her lifelong health condition, and describes it vaguely as allergic to everything. She’s spent her entire life trapped in a house, but even that is not incentive for her to investigate further. She doesn’t seem to show much interest in the outside world until the boy next door opens her eyes to it all. She has unquestioningly accepted the limitations of her diagnosis and resigned herself – a child perhaps, but a teenager? Never. I would like to contrast this with reality: The chronic illness life of today is far from socially isolated and ignorant. There are informal networks all over social media, official associations and personal blogs for many different health conditions. Many of us have friends from all over the world with similar health challenges, and we are always exchanging suggestions, ideas and our treatment experiences. Neither is it the stereotypical “whine-fest,” or jumping on the latest health fad bandwagon. People are talking biochemistry, genetics, sharing podcasts from medical specialists, forwarding medical journal articles and are involved in political activism. And yes, this includes the teenagers. Patients, or their parents, spend years fighting tooth and nail for diagnosis and treatment. The movie will bring SCID, and by extension chronic illness as a whole, into the limelight, but in a very inaccurate way. It’s important that as a larger chronic illness community we all unite behind the SCID community to dispel the damage this could do, and try to turn things to our advantage. Having a book and a movie like this in the mainstream’s attention may serve as a catalyst for conversation where we can better educate people on the reality of life with serious health challenges. Being well informed will really help us to be taken seriously in such conversations. We want to hear your story. Become a Mighty contributor here. Lead image via Everything Everything Movie Facebook page

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    Convincing My Doctor to Treat My Rare Disease, SCID-ADA

    Imagine being ill and having to use your precious energy to convince someone to treat you or prescribe you life-saving medicine because so few people in the world are familiar with your condition. It is a process that makes you feel as if you’re falling right through fragile ground, watching it shake and shatter beneath you, regardless of how hard you try to plant feet. Many rare patients spend more time than they should trying to “figure it all out on our own” because doctors are hesitant of treating the unknown. While this is sometimes understandable, it is extremely taxing on patients, who are often desperate for just basic care. Unfortunately, little is known about adults living with my disease, SCID-ADA, or how it progresses. It can be a scary world to live in because patients with rare and chronic illnesses usually won’t just get one diagnosis — they get many. To quote my orthopedist, “Wow, you have a lot of shit going on.” Patients like us have to open the door to the inexplicable and unfathomable when it comes to our health. “What’s going to happen next?” “Will I become immobile in the next 15 years?” “Will I be on oxygen in the next 20?” As troubling as this is, the most heart-wrenching question has been, “Which doctor will be willing to treat me?” Here is the raw truth: most doctors are scared of the unknown, to attempt and treat a patient with a disease they have yet to encounter. It took me four years of severe gastrointestinal distress to find a doctor who didn’t blink at the thought of doing a colonoscopy on someone who has multiple rare and chronic illnesses. I chased down doctors and answers on my own. “Let’s hold off on the colonoscopy. You have a very weak immune system. We don’t want you to get an infection.” I told each and every one of them I understood the risks and would gladly go through with all of it to at least rule things out to have peace of mind. No one listened. They were scared. In March, as I sat in my infusion chair, it was my very concerned nurse who had been with me for five years who said, “Enough. You need to find better care.” While the rest of my medical team continued to throw their hands up in the air, she took the time to make outside calls and find the best center for those with complicated GI histories. I couldn’t have been more grateful. In April, I finally had the colonoscopy I had begged for on my hands and knees. But why did it take so long? Is the fate of a rare disease patient up to something as unpredictable as plain old luck? My last feat was to convince my new immunologist to please treat me. I was the first one with SCID-ADA she’d ever encountered. She read about it online and became very anxious. “You are going to need a lot of help in life, and I’m not sure I’m the one who can help you.” I pleaded with her. In fact, on the day of my second visit with her, I strategically asked my husband to come, and put on makeup (something I rarely have the energy for). I attempted to look as healthy as possible. “Please, no one will know how to best treat me. I just need you to be able to work with me when complications arise. I don’t expect you to have answers because no one will.” If a doctor is willing to take the “risk” to treat a rare patient, the rewards can be numerous. When you choose to care for a rare patient, you get to meet someone who is (and usually has no choice but to be) thoroughly invested in their health and well-being. We often know more about our disease than other doctors. We can help you become an expert. You get to contribute to literature and general knowledge in medicine. Every single bit of information documented about our patient histories is invaluable to the future generations who are born with or develop rare conditions. While the doctor gets to better understand disease progression and become familiar with new drugs and drug development, he or she is reaping the ultimate reward, in my opinion. Should the day come again when a young child and parent enters your office with the same condition, you just might be able to say, “Yes, I can help guide you.” We want to hear your story. Become a Mighty contributor here . Photo by Debashis Biswas, via Unsplash

    Melissa LeBlanc

    The Isolation We Experience Because of My Daughter's Rare Disease

    You know that saying, “If you want to make God laugh, tell him your plans?” Well, I am laughing right along with Him! Boy, did I have plans. So many plans. Any parent can tell you that life changes after having a child. It is a warning I heard all too often while pregnant, “your life is about to completely change.” Of course, I expected changes, but I was determined not to miss out on anything. Just because my husband and I were bringing a child into this world, I wasn’t going to let it stop me from our weekly hang outs and weekend dinners with friends, days at Disneyland, weekends away. Riley would just tag along — no big deal. I had it all planned out, we were going to have a  fun, adventurous life with our new baby girl. No, I don’t really believe God is up there laughing at me for making those plans not knowing what I was about to be faced with. However, I do believe He allows us to experience trials and grief for a purpose, even if that purpose is never fully known or  fully understood by us. Just two weeks after Riley’s birth, we received a call that no mother ever wants to hear. Her newborn screening came back flagged for something called Severe Combined Immunodeficiency (SCID –pronounced skid). With not much explanation and only a quick google search, I was told to bring her to the hospital immediately for emergency blood work and to be examined for any signs of infection. SCID is a rare genetic disease that leaves a child with no immune system, whatsoever. Something as simple as the common cold could be deadly. It forces you to live in isolation, in a sterile environment away from family and friends, hiding from the rest of the world and the germs lurking everywhere. A disease that is often fatal within a child’s first two years of life. Your only hope for saving your child’s life is a Bone Marrow Transplant or an experimental Stem Cell Transplant. Unbelievable, right? I know. As a first-time mom, this news rocked my world — just like it would for any parent no matter how many children you already have. But there is something about becoming a first-time mom, you are already experiencing a mix of emotions, nervous but excited to explore the unknown world of parenting. Only now, your firstborn child has a life-threatening illness. You are no longer just learning how to care for a newborn, you are forced into a battle for your child’s life — no book, blog, or person can ever prepare you for that. Nobody plans to have a sick child. You see it happen to other families and it breaks your heart, but you don’t ever think it could happen to you. Until it does, and you quickly learn to never say never.   Being a first-time mom to a child with a life-threatening illness, I have had to grieve the loss of nearly every expectation I had of what it would be like becoming a mom. All of my plans flew out the window the moment I got that phone call. Instead of regular trips to Disneyland or the beach, it was regular trips to the hospital. Instead of meeting up with friends on Friday night, it was prepping multiple shots and medications to administer. Instead of calling my other first-time mom friends for a play date, I was calling doctors and insurance to try to get medications and treatments approved. Instead of that fun weekend away, it was weeks in a hospital room. Instead of planning the first birthday party I always dreamed of, it was planning for chemotherapy and a stem cell transplant. I have felt robbed of so much as a first-time mom and it has taken me a long time to come to terms with that. I have had many moments of weakness, sobbing in the shower, and crying out to God, asking him why and begging him to heal my child — since showering provides the only moments alone when I don’t have to be strong for anyone else. Rare disease, in general is isolating, SCID just takes that term way too literally. I share this to tell a story of hope and encouragement. Because with all of the pain and heartache, there has been so much good, so many blessings and so much to be thankful for. Rare disease teaches you more about yourself, life and love than you ever hoped to know. It teaches you to rejoice in the smallest of things. All baby milestones are fun and exciting, but when you aren’t sure if you were ever going to be able to witness your child reach those milestones… let me tell you, I feel like I want to throw a party for every new thing she learns. Rare disease teaches you compassion and empathy. It pulls out a strength from within you that you never knew was there. It brings you a community of people walking the same path, you all wish you didn’t know each other, but you wouldn’t trade these newfound friendships for anything (shout out to my warrior mamas, y’all know who you are). So maybe I didn’t get to experience all of her firsts the way I wanted to, but now we will have new firsts to plan and look forward to. I believe every thing we have been through will only make each of these moments so much sweeter than they ever would have been. I wouldn’t trade this journey for anything. Because of this rare disease that so rudely interrupted our lives, I have experienced deeper love, appreciation and joy. I have experience God’s love and faithfulness in ways I never thought possible and don’t know if I could ever put into words. Most of all, I am beyond blessed to say my daughter is alive. She is thriving. She is so full of life. Others aren’t able to say that about their child, and for that reason alone, I will never take a single day with her for granted. Follow this journey on Life With Riley. We want to hear your story. Become a Mighty contributor here .

    'Everything, Everything' Draws Criticism for Its Portrayal of SCID

    Editor’s note: This article contains spoilers for the movie “Everything, Everything.” Disability activists and rare disease advocacy groups like the Immune Deficiency Foundation (IDF) are speaking out against “Everything, Everything,” a new movie based on a book by Nicola Yoon, about a young woman with severe combined immunodeficiency (SCID). The film, which comes out on Friday, tells the story of Maddy Whittier (Amandla Stenberg), a teenager whose mother prohibits her from leaving the house due to fears her immune system cannot handle the outside world. Whittier then falls in love with her new neighbor, Olly Bright (Nick Robinson), who convinces her to “risk everything… for love” and go outside. “It is frustrating to see Hollywood rehashing the same tired storylines that go back to ‘The Boy in the Plastic Bubble’ in the 1970s,” Carol Ann Demaret, the mother of David Vetter, whose story the movie “The Boy in the Plastic Bubble” is based on, told The Mighty. “While playing off the theme of the isolation people with SCID supposedly face is a convenient device for storytelling, these narratives are completely false. They help to spread misinformation that is harmful to people living with this disease, hurtful to parents, like myself and thousands of others who have tragically lost a child to SCID.” Others, not necessarily in the rare disease community, say the film also promotes the idea that people with disabilities cannot lead full lives. She was living 17 years before the plot of the movie.She. Has. Experienced. Life.Disabled. People. Experience. Life.#EverythingEverything https://t.co/YIqpsRtFza— Bree, but EXCITED (@TheBreeMae) May 12, 2017 Avoid #EverythingEverything movie at all costs. It promotes that having a disability “isn’t living” & gaslighting chronically ill youth.— Zoë Godden (@ZoeSaysStuff) April 21, 2017 But I can make sure everyone who follows me knows EVERYTHING EVERYTHING is harmful and is not positive disability representation.— Ava (@Bookishwithtea) March 28, 2017 My thought on Everything Everything: probably another problematic love story using disability as an emotional draw.— Jonathan Liddel (@MintJaan) May 12, 2017 During the course of the movie, it is also revealed that Whittier doesn’t have SCID. Rather, her mother has Munchausen’s syndrome and has faked her daughter’s illness all these years. “The plot twist at the end where it is revealed the main character never actually had SCID is particularly upsetting,” Marcia Boyle, president and founder of the Immune Deficiency Foundation, told The Mighty. “Most people with SCID and other [primary immune] diseases don’t exhibit visible symptoms, so accusations of hypochondriac behavior is something our community deals with all the time and the reinforcement of this false stereotype is both worrisome and dangerous to us.” @NotSeenonScreen “Everything, Everything” is particularly ugly because 1) it turns out the disability is fake and 2) a mentally ill person is the “villain”.— drea ???? (@colectivovacio) April 22, 2017 IDF hopes by getting out in front of the movie, it can help people better understand SCID and the challenges those living with a compromised immune system face. The organization said in a statement: The reality is that people with SCID are not forced to live their lives in a sterile environment, which is an antiquated notion that has not been the case for many years. In fact, it was never a standard treatment, having only been used in a handful of cases. Most persons with SCID who have received treatment lead healthy and productive lives with no need to shield themselves from the world.IDF understands that the concept of being forced to separate yourself from the world is an enticing tool for storytellers, but IDF would hope that entertainment is not an acceptable reason to do harm to an already vulnerable group by spreading false information about their condition. Boyle added: Rare disease groups like the Immune Deficiency Foundation face so many hurdles to raise awareness about the symptoms and realities of living with a chronic disease, so movies like this are a real step backward for our community. In the future, we would ask that writers and filmmakers take the time to research the conditions they intend to portray instead of exploiting them through detrimental and completely false representations.

    Melissa LeBlanc

    The Problem With 'Everything, Everything,' From a SCID Mom

    Editor’s note: This post contains spoilers about “Everything, Everything.” There’s a new movie coming out soon called “Everything, Everything.” It’s about a girl who has severe combined immunodeficiency (SCID), who’s lived her entire life indoors, never able to experience the outside world because she could die — until that fateful day she meets the boy next door (through the window, of course) and decides to risk it all. I’m not usually one to share my opinions but… this is just too near and dear to my life, and I cannot stay silent. After all, awareness is the first step in making a difference, right? I’m a sucker for young adult books and movies. It’s not that I think “Everything, Everything” is going to be a horrible movie with bad acting. I’ll probably eventually see it, and if I can get past the false information about SCID, I might even like it. Like I said, I am a sucker for cheesy love stories – the ones that draw you in with the drama and unrealistic story lines. The problem with “Everything, Everything” is that SCID is real. SCID has taken the lives of far too many babies. SCID affects real families across the world. I have cried endless amounts of tears over what SCID has done to my family, to my daughter, and to families that were once strangers who I now have come to know and love. Still not sure what SCID is? Let me enlighten you! Severe combined immunodeficiency, more commonly known as “bubble baby disease,” is a rare, life-threatening, genetic disease that leaves babies with no immune system, no way to fight off any sort of illness. Even the common cold could be deadly. These children must stay in isolation either at home or in a hospital room while waiting for their only chance at a healthy life: a bone marrow transplant — a process that often involves high doses of chemotherapy, weeks to months of living in the hospital, parents separated from their other children, siblings not able to bond or play together. Can you just imagine receiving an unexpected call from a pediatrician you’ve never met telling you to immediately take your not even 2-week old baby to the hospital for blood work? “Keep them covered and away from people. They likely have a life-threatening illness that you’ve never even heard of before.” That’s if you’re fortunate enough to live in a state that screens for SCID at birth. Some families find out later on, only once their baby has caught something and isn’t getting better. Sometimes it’s too late. Can you even imagine not being able to kiss your sweet little newborn? Telling new grandparents, aunts, and uncles they can’t hold your baby, they can’t even visit? Staying in strict isolation for months to years, living in a hospital room? Praying for a matched bone marrow donor just so your baby can have a chance to live? Or hoping your child is eligible for an experimental treatment because no donor is available? Watching as grown adults hold your screaming infant down to try to gain access to a vein? I could write a list a mile long of the struggles SCID families go through. But I think you get my point. The problem with “Everything, Everything” is not that Hollywood is once again using illness to tug at the heart strings of their audience; that’s never going to stop. The problem is it is a complete misrepresentation of what families affected by SCID actually endure. I hate to spoil the story for you, but I’m going to anyway. One of the biggest problems with it is the mother has made it all up — her daughter doesn’t have SCID. Yeah, yeah… I know this is a fictional story, it’s just a movie, I get it. But as a mother to a child who actually has SCID, this is a slap in the face, a punch in the gut. I live in a constant state of worry, wondering if I am doing enough to keep my baby healthy. I would never wish this life on anyone, and the thought that any mother could ever force this life upon their own child is horrific. Oh, how I only wish my baby girl didn’t have to fight for her life. Right now, I can only dream of the day my daughter can go outside and play in the yard, meet other children, be held by her grandparents who haven’t held her since she was a week old. One day… I’m not trying to discourage you from seeing this movie. You can make that decision for yourself. Go be entertained, eat some popcorn, drink an ICEE. All I am asking is that if you do see this movie, please, please, please… as you walk out of that theatre, remember that SCID is real and it is not at all like this movie is going to portray. Remember my baby girl and others like her who are fighting this battle in real life. Follow this journey on Life With Riley. We want to hear your story. Become a Mighty contributor here .