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    Purnima S
    Purnima S @purnimas
    contributor

    Dear Daughter: You Are So Much More Than Your Rare Disease

    Dear Daughter, As a newly pregnant couple, we started talking about this little human growing inside us. We loved you without knowing how you look, what you are, and without getting anything in return from you. We could feel your invisible presence, and we were eager to meet you! We were so happy and had no anxiety about the pregnancy. We felt we were living in a dream come true until we were told the doctor saw some tiny bright spots on your heart and sent us for more tests. A few tests later, we heard some big long words that gave you a probable diagnosis of a rare genetic disorder called tuberous sclerosis complex (TSC). It felt like someone had pulled the chair out from underneath us. The doctor handed us a piece of paper with just three words written on it to research. Doesn’t sound a big deal, right? It’s only three words. That’s what we told ourselves. After researching, we found what was hidden behind those three words on that otherwise blank paper. TSC causes benign (noncancerous) tumors to grow on different parts of the body, mainly the brain and kidneys, but also in places like the heart, lungs, and skin. The tumors can cause different symptoms such as seizures, learning disabilities, developmental delays, kidney problems, and issues with vision or breathing. Like the doctor told us, TSC is a rare condition, but there’s so much more to the three-letter acronym than most people would think. This probable diagnosis of course didn’t make us love you less. In fact, you inched even closer to our hearts. You kept growing day by day and our love got stronger and stronger for you. Finally, the time came – we were all set to welcome our tiny little girl. Soft like clouds, bright like sun, soothing like moonlight, melodious like your Dad … and here you are to say hello to this world! In a fraction of second we were a family of three, nothing unusual in this world but so magical for us. Then, a team of physicians walked in and asked us to sit comfortably. We knew we were scared about what the results would be but happy at the same time about having this little bundle of joy in our arms. Heart beats, moments, memories, and everything else got mixed up slowly, and I felt frozen. Instead of coming to the point directly, doctors seemed to be talking about everything at once. We understood things were not right. We had you only for 10 hours, but now we’re hearing that due to TSC you’ll never be able to travel outside the country, walk, talk, or experience life like a “typical” child. Those moments when we first heard your TSC diagnosis from the doctors and the weeks, months, and years since have been challenging. But we had that glittering shining light in your eyes, daughter, that’s what made us survive and keep going stronger and stronger. Parenting is certainly difficult for everyone but especially those parents navigating life with a medically-complex child, like my daughter with TSC. We’ve had an unexpected life but one truly filled with magic. We will never know how a child without TSC learns things, explores their environment, loves you as a parent, and matures. But we sure do know how hard it was for you to learn to walk independently. When your first and second birthday passed without taking steps, we started to give up on the dream of you walking. But we let you progress at your own pace, and we kept supporting you 100%. Then, 33 months later, you did it — you took your first steps on your own. Everyone records their child’s first steps, but I didn’t. I watched you walking toward a toy during physical therapy, and I didn’t record for your dad because I couldn’t take my eyes off you. This example is one of many “little wins” we celebrate that we might have taken for granted if you didn’t live with TSC. We didn’t have the chance to record your first steps, but we did record your first seizure. Over 90% of people living with TSC develop epilepsy, and unfortunately, you were one of them. The night before your first Christmas, your dad recorded a video of you making some unusual facial expressions and sounds. It turns out we were recording seizure activity. We still do this five years later for your medical team to review. We try and also capture the less worrisome aspects of your life — the parts we’ll treasure forever: your smiling, rolling over, pushing up, feeding, saying “Mamma” and “Papa,” giggling, popping bubbles, being silly — you just being you. Even though we get to experience all these normal childhood moments with you, there’s never a day we don’t worry, never a day we don’t think of doctor’s appointments or therapies. And because of epilepsy, there are days where your smile disappears, days where you don’t do any of those “normal” activities we like to record. I held you in my arms during and after your first seizure, and I still continue to do so 60 months later in your life. We pray for you to get stronger and stronger. We help you learn the same thing several times over again, like clapping, because forgetting and relearning is part of what you have to live with.. I dread you forgetting how to say “Mamma” or “Papa” after an emergency hospital stay or even walking. But I do know one thing: I can’t ever forget how much you love us and how resilient you are. That’s how our life is: sweet and sour and sometimes complicated, but it is our life with our little girl. I feel so happy that I couldn’t control myself from crying when I first saw you rollover, sit up, smile, push up to stand, walk, run, and say basic words. We are so proud to be your parents.. I fear losing you, but know that my love for you will never fade. We love you so much, Mamma and Papa

    Sponsored by
    Kelly Heger

    How a Low Temperature Led to Jillian’s AADC deficiency Diagnosis

    My name’s Kelly Heger. I am a mom of four children and I have a lovely husband, Bruce. My children are Brett, Brian, Jenna, and, of course, my special Jillian, who’s in her mid-twenties. I’m a registered nurse, and I became a nurse because of Jillian. She inspired me to go back to school. I felt I needed that knowledge base to communicate with physicians and understand what they were telling me about Jillian. It’s really helped me because I have been able to take care of Jillian so effectively by just going back to school. My daughter Jillian is an angel with an amazing spirit. She’s a funny, witty, and courageous young woman who happened to be born with a very debilitating disease. When Jillian was born, we went home from the hospital with this beautiful, tiny little baby—and we were thrilled. 24 hours later though, I came down with a fever, so we returned. I remember being in the emergency room with Jillian and I said to my husband, “Would you please just take her for a walk?” I was so afraid she was going to get sick. Bruce was holding Jillian, just pacing around, when a nurse said, “Wow, look at you, you look like a proud daddy.” He responded, “Oh yeah. I love my little baby, but every time I kiss her, she just seems so cold.” The nurse checked Jillian’s temperature, and it became clear there was a serious issue. Her temperature was so low that she would have died within 3 hours. Had we not gone to the hospital, we wouldn’t have known. We stayed in the hospital for over a month, and they ran every imaginable test. We were asked if anybody in our family had a history of X, Y, and Z disease. But everything came back normal. So, we went home with a baby that we thought was healthy. At three months old, I noticed something was off with Jillian. When I held her, she felt floppy and listless. She would sleep 20 hours a day and didn’t open her eyes much. She had trouble feeding. Then, every day at three or four pm, Jillian started having seizure-like episodes where she’d stiffen, roll her eyes back, and jerk her head back. She’d have difficulty breathing, nasal flaring, and beads of sweat all over her forehead. I now know that this is called an oculogyric crisis, but back then I didn’t—and it was terrifying. I brought Jillian to Children’s Hospital when she was having one of these episodes, and miraculously, the doctor on call that weekend was Dr. Swoboda. She had diagnosed the first case in the US two months prior and would give the same diagnosis to Jillian. At five and a half months, Jillian was diagnosed with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. She was the youngest child to be diagnosed with this disease and the fourth child in the world. In the beginning, we were relieved to have a diagnosis—it was a big deal. The hard part came when the disease started to progress. JILLIAN’S PROGRESSION In the last couple of years, Jillian’s complications due to AADC deficiency have become more difficult to live with. She had a tracheostomy tube put in, which was a difficult thing to get over. It was tough. She had severe neurostorming, a sudden and exaggerated stress response, and dystonia, a movement disorder caused by involuntary muscle contractions. She also got her PICC (peripherally inserted central catheter) line several years ago, so she must have all her nutritional needs administered through an IV. Despite all the obstacles we’ve faced, Jillian has never given up, and neither will we. My daughter has beaten so many odds. Jillian has always looked beyond the discomfort and the pain that she experiences because of the disability caused by AADC deficiency. She wants to be happy, and you can see it in her eyes; she looks at you, not through you, so you know she’s really present with you, in both conversation and in play. I don’t think Jillian ever felt she was any different. So, I treated her that way. My motto was, you’re going to do everything that any other child could do. If you want to dance, we’re going to dance. And we did! Jillian would kick her arms and her legs, and we’d spin her. ADVICE TO PARENTS AND CAREGIVERS You have to be their advocate. Your child needs your voice. My biggest advice is to do your best to embrace what you’ve been given. I know it’s sad, and especially hard for newly diagnosed families. Try to educate yourself and understand the medical terminology because it will help you process the diagnosis and be a better partner on your child’s care team. Figure out a way to make the diagnosis part of your life. My husband and I used to say, “This is our life.” This is our life, and we just had to go with it and learn to live with things as they came. After Jillian was diagnosed, I came up with this saying, and it’s been her mantra ever since: One day I will walk; one day I will talk; today, I can smile. No one should go undiagnosed. If you suspect your child may have a rare genetic disorder, like AADC deficiency, talk to your doctor about genetic testing. Watch an interview with the Heger family and learn more about AADC deficiency at AboutAADC.com

    Never Stop Advocating for Yourself With NMOSD

    IMPORTANT SAFETY INFORMATION What is UPLIZNA? UPLIZNA is a prescription medicine used to treat adults with neuromyelitis optica spectrum disorder (NMOSD) who are anti-aquaporin-4 (AQP4) antibody positive. It is not known if UPLIZNA is safe or effective in children. Who should not receive UPLIZNA? You should not receive UPLIZNA if you have: – had a life-threatening infusion reaction to UPLIZNA. – an active hepatitis B virus infection. – active or untreated inactive (latent) tuberculosis. Before receiving UPLIZNA, tell your healthcare provider about all of your medical conditions, including if you: – have or think you have an infection. – have ever taken, currently take, or plan to take medicines that affect your immune system, or other treatments for NMOSD. These medicines may increase your risk of getting an infection. – have or have ever had hepatitis B or are a carrier of the hepatitis B virus. – have or have ever had tuberculosis. – have had a recent vaccination or are scheduled to receive any vaccinations. You should receive any required vaccines at least 4 weeks before you start treatment with UPLIZNA. – are pregnant or plan to become pregnant. It is not known if UPLIZNA will harm your unborn baby. Females should use birth control (contraception) during treatment with UPLIZNA and for 6 months after your last infusion of UPLIZNA. – are breastfeeding or plan to breastfeed. It is not known if UPLIZNA passes into your breast milk. Talk to your healthcare provider about the best way to feed your baby if you receive UPLIZNA. Tell your healthcare provider about all the medicines you take , including prescription and over-the-counter medicines, vitamins, and herbal supplements. What is the most important information I should know about UPLIZNA? UPLIZNA may cause serious side effects, including: Infusion reactions. UPLIZNA can cause infusion reactions that can be serious or may cause you to be hospitalized. You will be monitored during your infusion and for at least 1 hour after each infusion of UPLIZNA for signs and symptoms of an infusion reaction. Tell your healthcare provider right away if you get any of these symptoms: headache sleepiness fever rash nausea shortness of breath muscle aches If you develop an infusion reaction, your healthcare provider may need to stop or slow down the rate of your infusion and treat your symptoms. Infections. Infections can happen during treatment with UPLIZNA. Tell your healthcare provider right away if you have an infection or get any of these symptoms: painful and frequent urination nasal congestion, runny nose, sore throat, fever, chills, cough, body aches UPLIZNA taken before or after other medicines that weaken the immune system may increase your risk of getting infections. Hepatitis B virus (HBV) reactivation. Before starting treatment with UPLIZNA, your healthcare provider will do blood tests to check for hepatitis B viral infection. If you have ever had hepatitis B virus infection, the hepatitis B virus may become active again during or after treatment with UPLIZNA. Hepatitis B virus becoming active again (called reactivation) may cause serious liver problems, including liver failure or death. Your healthcare provider will monitor you if you are at risk for hepatitis B virus reactivation during treatment and after you stop receiving UPLIZNA. Progressive Multifocal Leukoencephalopathy (PML). PML may happen with UPLIZNA. PML is a rare brain infection that leads to death or severe disability. Symptoms of PML may get worse over days to weeks. Call your healthcare provider right away if you get any of these symptoms: – weakness on one side of the body – changes in your vision – confusion – loss of coordination in your arms and legs – changes in thinking or memory – changes in your personality Tuberculosis (TB). TB is caused by an infection in the lungs. Before starting treatment with UPLIZNA, your healthcare provider will check to see if you are at risk for getting TB or have ever had TB. Vaccinations. Certain vaccines, called “live” or “live attenuated” vaccines, are not recommended in people receiving UPLIZNA. Talk to your healthcare provider before receiving any vaccinations. If you have a baby and you were receiving UPLIZNA during pregnancy, it is important to tell your baby’s healthcare provider about your UPLIZNA use so they can decide when your baby should receive any vaccine. See “What are the possible side effects of UPLIZNA?” for more information about side effects. How will I receive UPLIZNA? UPLIZNA is given through a needle placed in a vein (IV or intravenous infusion) in your arm. Before treatment with UPLIZNA, your healthcare provider will give you a corticosteroid medicine, an antihistamine, and a fever prevention medicine to help infusion reactions become less frequent and less severe. See “What is the most important information I should know about UPLIZNA?” Your first dose of UPLIZNA will be given as 2 separate infusions, 2 weeks apart. Your next doses of UPLIZNA will be given as one infusion every 6 months. Each infusion will last about 1 hour and 30 minutes. After each infusion, you will be monitored by a healthcare provider for at least 1 hour. What are the possible side effects of UPLIZNA? UPLIZNA may cause serious side effects, including: See “ What is the most important information I should know about UPLIZNA?” low blood cell counts. UPLIZNA may cause a decrease in some types of blood cells. Your healthcare provider will do blood tests to check your blood cell counts. The most common side effects include urinary tract infection and joint pain. These are not all the possible side effects of UPLIZNA. Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

    Sponsored by
    Katie Jackson

    Finding My New ‘Normal’ With Primary Immunodeficiency

    I was always a “sick kid.” This meant lots of ear infections, an asthma diagnosis in my early 20s, and more visits to doctor’s offices than I could ever count. In nursing school, I would get sick frequently. It was always brushed off because “everyone catches everything” when you’re in training. But I caught everything . I was getting sick every other month, and it always took me longer to recover. I also experienced constant, severe fatigue. I noticed I needed more sleep than my peers, and I was still tired all of the time. I was feeling progressively worse, so I started going to specialists to try and find answers. A pulmonologist decided to get my Immunoglobulin G (IgG) levels tested. This one test, which measured the function of my immune system and its ability to fight off infections changed everything. Sure enough, my levels were not very good, so he sent me to see an immunologist. If this doctor had not thought outside the box, and if I had not gotten that one test, who knows when I would have found the answers to my life-long health challenges. After seeing the immunologist, I finally got the diagnosis that explained everything I had gone through my whole life: common variable immune deficiency , a type of primary immunodeficiency (PI) disease. Living with PI simply means my body’s immune system isn’t working like it should. Unlike autoimmune disorders, where your body is fighting against itself, with PIs, your immune system has trouble fighting at all. 1 This explained why I was always more vulnerable to infections and why it always took me so long to recover. PI is rare, affecting 1 in 1,200 people in the U.S. 2 , and there are over 450 different types. 3 My family, especially my parents, was overjoyed at my diagnosis because now we knew what was going on and could do something about it. It was also nice to have validation. Doctors had accused me of faking it and had dismissed my symptoms in the past. For me, though, the relief was complicated. Getting this diagnosis meant acknowledging I was a “sick person” who had a chronic condition that wouldn’t go away. Like other people who face health challenges, it’s hard to pretend you don’t want to be “normal” every once in a while. Unfortunately, my unwillingness to accept the reality of my condition affected my decisions about treatment. I was willing to try different antibiotics, but getting immunoglobulin (Ig) therapy like my doctor recommended, which replaces the antibodies (immunoglobulins) that are missing or not working properly in people with PI, intimidated me. 4 After two years, I finally got so sick my doctor simply said, “Listen, this isn’t working.” I agreed that Ig therapy was worth trying. Despite my initial hesitation, I was relieved when we finally started. I was able to get my infusions at home (I’m a nurse, and didn’t want to spend even more time at the hospital!). My mom is a nurse too, so in the beginning it was comforting to know she’d be right there with me. The management plan that my doctor and I agreed on together has become part of my new normal, and my husband and I use my weekly infusions to spend time together. We’ll order pizza, watch a movie, and snuggle up with our dog. Now, I personally understand the importance of donating plasma. Plasma is a specific part of the blood filled with immune cells needed to fight off infections — and it’s how they can make IgG therapies. 5,6 When people donate plasma, it makes these therapies available for people like me. I want people with PI to know that even though our “normal” might look different, I got married, am looking forward to having a family, and have hobbies I enjoy. I love crafting, painting, and have a weird obsession with tie dye.  I’ve also been lucky to have such a supportive family, and the connections I’ve made through MyIgSource have been invaluable as well. MyIgSource is a unique community with helpful information, resources, and peer-to-peer support for those living with primary immunodeficiency. Now, I’m in my 30s and pregnant with my first child. When the doctor said everything was “normal” for the baby at my 20-week ultrasound, I cried tears of joy. I had never heard a doctor say that to me before. For my child, having a mom with PI will be his normal, and we’ll navigate life with it together. 1 Ballow, M., et al., (2019). Antibody Immune Deficiencies. In Patient & Family Handbook for Primary Immunodeficiency diseases (6th ed., pp. 18–20). Textbook, IDF Immune Deficiency Foundation. 2 McCusker, C., Upton, J., & Warrington, R. (2018). Primary immunodeficiency. Allergy, Asthma & Clinical Immunology, 14(S2), 2. https://doi.org/10.1186/s13223-018-0290-5 3 Immune Deficiency Foundation. About Primary Immunodeficiencies | Immune Deficiency Foundation. (n.d.). Retrieved March 16, 2022, from https://primaryimmune.org/about-primary-immunodeficiencies 4 Ballow, M., et al., (2019). Antibody Immune Deficiencies. In Patient & Family Handbook for Primary Immunodeficiency diseases (6th ed., pp. 23). Textbook, IDF Immune Deficiency Foundation. 5 Ballow, M., et al., (2019). Antibody Immune Deficiencies. In Patient & Family Handbook for Primary Immunodeficiency diseases (6th ed., pp. 13). Textbook, IDF Immune Deficiency Foundation. 6 Liebe, R. (2020, January 23). Plasma. Plasma Protein Therapeutics Association (PPTA). Retrieved March 16, 2022, from https://www.pptaglobal.org/plasma US-NON-7336v1.0 04/22

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