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    5 Things I Wish I Knew About Parenting a Child With a Rare Disease

    Last year, I found myself emotionally and physically isolated as the primary caretaker of my son. In caring for him, I lost track of the things I should have been doing to take myself. But, through enduring this, I gained some perspective and learned some lessons about what we can expect to go through as caretakers of children with a rare disease. I now have more experience with accepting uncertainty, dealing with difficult and emotional situations, and navigating the medical system than I ever could have imagined. I have used my experience to write this list of five things I wish I had known about parenting a child with a rare disease. I hope that in some small way it can alleviate the shock of coping with a rare disease diagnosis for parents and caretakers and help prepare them for some of the things they will experience. Stay hopeful! You will always have more questions than answers. I am a curious Type A personality. I thrive on facts, information, and plans. At any given time, I have contingency plans for my contingency plans. Navigating the world of rare disease is like playing Twenty Questions, except everyone’s guessing, and you’ll never win. Making peace with uncertainty, or at least attempting to, helps ease the burden of exploring the world of the unknown. Your child will have a care team, but you won’t. While you get a crash course in organizing information, dates, names, diagnoses, locations, prescriptions, and paperwork, you will have a team of doctors and medical staff rallying behind your child. But you won’t have a dedicated team to help you navigate this difficult journey. You will be left in charge of your own care. Your own mental and physical health. Your own marriage and friendships. To my complete surprise, I found myself isolated, both emotionally and physically, during 2021. I was swept up in caring for my son that I lost myself, my needs, my wants. Most painfully, I failed to recognize the toll taken on my body and mind. We as parents experience trauma through the ups and downs of caring for our loved ones. For our own well-being, we must address and seek help processing this trauma. You will somehow possess superhuman patience and strength … and still lose your cool. In the wake of the many stressful moments you’ll encounter, people will make comments such as “I don’t know how you do it” and “I could never do all the things you do.” The absolute truth is I don’t know how I do it either. But I do. We do. All of us parents who are raising children with exceptional hurdles. I can stand firm and cross-examine the medical biller on why we are paying for a service that should be completely covered, then find myself drowning my sorrows, fears, and frustrations in a McFlurry wondering why this is my life as I wait for my son’s therapies to finish up. Learn to accept extreme emotions, you will ride them like riding waves on a jetski. You WILL see the world differently. For better or worse, your view of society will permanently change. You will become very aware of the flaws in assistance systems and the lack of resources. You will learn how to navigate conversations about disability, health, time, money, and freedom differently. Conversely, you will see more families like yours, and with that, a certain unspoken understanding of the difficulties others face will emerge. The shock of living in the zebra/rare disease world will never wear off. Now hear me out. Yes, the pain of diagnosis day will eventually feel like an echo. However, if your child requires additional support in the form of therapies, services, medication, or devices, you’ll experience bouts of blinding rage at the glaring gaps in systems that are supposed to help. Programs that you think will cover medical needs will not, friends and family may think your child will simply outgrow their illness and/or disability, and many doctors won’t have heard of your child’s diagnosis. These abnormal experiences are all very normal in our world: the rare disease world.

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    Purnima S
    Purnima S @purnimas
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    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

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    Christine Barton

    My Journey With Neuromyelitis Optica Spectrum Disorder

    How would I describe neuromyelitis optica spectrum disorder (NMOSD)? That’s a tough question. You never know what you’re going to get. You’ll get an “attack” out of the blue, and you don’t know how it’s going to affect you or how long it’s going to take to recover. I tell people it’s sort of like multiple sclerosis (MS), which NMOSD is often misdiagnosed as, but all the damage is done during that one attack. NMOSD doesn’t build up over time; instead, you just get the attack, then wait and see if you get better with whatever treatment you’re using. Like so many invisible illnesses, but especially with NMOSD because it’s so rare and relatively unknown, it’s hard for others to understand what you’re going through. You look like one thing on the outside, but on the inside your body is a different story. The First NMOSD Attack My first experience of NMOSD symptoms was an interesting one. I was in San Diego for a veterinarian work conference in 2004, and I kept feeling this strange sensation in my leg. I was having trouble moving around. One night, when my coworkers and I were out eating at a restaurant, I got up from the table, and my hip felt like it popped out of place. It caused an immense amount of pain; I thought I had hurt my back! The odd sensations progressed over the next few weeks to where my feet eventually went numb, which then spread to under my chest, causing me to not feel anything below that point on my body. I also started falling all the time. It was really scary because I didn’t have any answers yet, and my body felt like it was rebelling. The hardest symptoms were that numbness — that lack of feeling in my legs — and the pain in my back. I knew I needed to seek medical attention, which then included an MRI to try and pinpoint the issue. It took months to get a diagnosis, and those months felt so long. By that point, the numbness had transformed into temporary paralysis lasting about five months. I had to take a leave of absence from my job as a vet technician, and I moved back in with my parents to get the support I needed. They had to drive me back and forth when I eventually did return to work; I was fully reliant on them to get around. I couldn’t take care of myself or my dogs, who have always been my constant support and staple in life. I started intense physical therapy to help with my symptoms, and I did regain some strength and feeling in my legs to be able to walk again. But the pain was still there, and completing everyday tasks, such as drying off after a shower, caused more pain. It was a constant push and pull, and I was feeling more hopeless as time went on. Road to Diagnosis Eventually I went to the University of Pennsylvania and was placed in the neurologic intensive care unit (ICU). At first, the doctors thought it was transverse myelitis, which is inflammation of a section of the spinal cord, based on my previous MRI results. However, that wasn’t fitting with all that I was experiencing. There was one neurology resident there who kept looking into my case after she noticed I was coming in frequently for follow-up visits and more tests. It wasn’t until they tested for aquaporin-4 (AQP4) antibodies in my blood that they recognized it as NMOSD. While it was a scary diagnosis, a part of me was relieved to finally have a solid answer, and I have that neurology resident’s persistence to thank for that. Back in the early 2000s, there wasn’t much information out there about NMOSD. However, I was fortunate to start seeing a new doctor through the Guthy-Jackson Charitable Foundation in 2009 who specialized in the field. I can’t explain the relief I felt by finally connecting with doctors who were so familiar with this rare condition. A lot of physicians I had spoken to over the years wanted to treat it like MS, but that doesn’t work. These new doctors knew how to address it in the right way for me, and I finally started to feel like things were moving in the right direction. Despite being connected with knowledgeable neurologists, the attacks still weren’t stopping; I continued to have them sporadically, even while on different medications. Attacks felt like sensation differences in my body, and these would be a warning that something was about to happen. An example would be that I would start to experience sensitivity in my legs to extreme cold or heat. Even though I could typically bounce back from these attacks, I was hesitant to live my life fully because I didn’t know when they would occur. I was afraid to travel and felt vulnerable all the time. When I did go places, I always bought travel insurance just in case. Switching between different medications to try and minimize the attacks was stressful too; nothing was working. I’ve never been good at taking pills and would sometimes forget to take them as prescribed. In my experience, other medications would need approval from insurance, and they’d always arrive late. It felt like such a hassle and another stressor that I didn’t need in my life. I’d gotten so used to having attacks by that point that I started bringing a suitcase to the hospital when the symptoms would start again. I just knew I’d be in the hospital for a few days even before the doctors would tell me — one for the full day of treatments, then another just to recover from it. Discovering New Treatment Options and Support The attacks weren’t stopping, and it was time to switch it up again. In 2017, my doctor and I decided to enroll me in a clinical study for a new treatment, now known as UPLIZNA ® (inebilizumab-cdon). They explained to me that UPLIZNA is for people who live with AQP4-IgG+ NMOSD and works by depleting the B cells, which are immune system-specific cells that create the antibodies that can lead to the disease. It was also an infusion, so no pills! After learning more about the medicine, I felt like it was the right treatment for me. It had been more than 10 years since my initial diagnosis, and I needed to try something new. Thankfully, I have had a positive experience using UPLIZNA. Even now when I feel some of my symptoms during strenuous activities, I can plan ahead of time and not worry about it as much. I also have financial support with copays and medical coverage. I get an infusion once every six months and have routine blood work every three months, then I just go about my day. Although everyone responds to treatment differently, after my infusion, I am able to make the long drive home and go to work the next day. I leave the suitcase at home, and I don’t have to take extra time off work to manage my care, which is huge for me. Also, my doctor told me the common side effects of UPLIZNA include urinary tract infection and arthralgia (joint pain), but I haven’t had any side effects to date.  I still experience some NMOSD symptoms today like sensation differences, similar to the feeling of bugs crawling on my legs after strenuous activity, but I haven’t let that stop me from doing the things I enjoy, like gardening, cooking, and spending time on my boat with friends. But the best part? I haven’t had any attacks. A couple of years ago, I was even able to take my niece and nephew on a trip to Disney without me having to worry that an attack may hinder our time at the parks. Because I feel like my symptoms are under control, the fear of having an attack no longer holds me back. To anyone who has been recently diagnosed with NMOSD, remember to advocate for yourself and find a doctor who will listen to you. Surround yourself with support. I was fortunate to find a Google group of people who live with NMOSD and to later connect with people from the Guthy-Jackson Charitable Foundation; so yes, there are other people out there! It’s important to have that support system to rely on, especially in the beginning when you don’t know what is going on. I’ve met some of my best friends in these groups. It also helps to seek out information. I was looking for a neuroimmune-related conference, and that’s how I found Guthy-Jackson and all they do to support the NMOSD community. I really like the patient days and conferences. Doctors from all over the world come to these events, and you can ask them questions. It’s also a great opportunity for me to support newly diagnosed people, because I’ve lived with NMOSD for so long. I would encourage you to seek out similar support, especially if your family and friends struggle to understand what you’re going through. It can help you stay positive to connect with others who understand your journey through diagnosis and exploring treatment options. Christine is an UPLIZNA patient ambassador for Horizon Therapeutics. Her experience may be different from your own, so always speak to a healthcare professional. To learn more about UPLIZNA for NMOSD, visit UPLIZNA.com and see Important Safety Information below. 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.

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    Moving forward can mean leaving the past behind. We’ve come so far and yet we still have so much to learn. What is something helpful you’ve learned?

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    An Open Letter From A Mama Whose Child Became Medically Complex After Adolescence

    Yesterday two of my three children went back to school for the 2022-2023 school year. We did all the things to prepare for the first day: schools supplies, meet the teacher, picked clothes out, talked about what they looked forward to and what they were fearful of.

    I walked them to school (we live a few houses away), hugged each of them and waved goodbye reassuring them they were going to have a great day. Then I turned around and headed home.

    On my walk I was flooded with the feelings my heart had been storing. My other child will not be returning to school with his siblings because just 11 months ago he suffered a severe hemorrhagic stroke caused by a ruptured aneurysm at the site of an unknown arteriovenous malformation within the left portion of his brain. That was a lot of words right?!?! Yep, that’s what I thought too when it all happened.

    The aneurysm that led to a catastrophic bleed resulted in a brain injury we could have never foreseen. See that’s what happens with rare diseases; there is not enough research or education for people to be aware they even exist. Even when the result is lifelong recovery to a degree that is different for each case.

    Some parents are informed pre-birth about genetic anomalies or diseases because of genetic testing or ultrasound results. Some find out after the birth of their child takes place or within the first few months because of difficulties or symptoms. We were completely unaware there was a ticking time bomb tucked deeply away in our son’s brain just waiting to explode.

    Having your child acquire their disability and become medically complex after their adolescent years is… well, not something words can describe or that I would wish upon anyone. The grief is heavy and the learning curve steep.

    I have joined groups of other parents with similar diagnosis’s only to be utterly discouraged by seeing so many others’ miraculous recoveries or much shorter timelines.

    I have also built community with other moms who know all too well what it is like to have a medically complex child. I feel more support in these relationships, but still a hole and lack of relation when it comes to the stage of life we are in and grieving what we have lost.

    I cannot care for my now 10 year old the way I could if he was 4 or 6. He is just too big. I need to use a lift for transporting and a slide sheet to move him in bed. I cannot pick him up and move him from place to place nor can I easily change him.

    The advocacy and focus is also different. They advocate to embrace who their child is and the fact that they are no less and their needs are human, not “special.” WHICH IS ALL COMPLETELY, 10000 PERCENT ACCURATE AND ON POINT!!

    I’m just not there. I’m not in that place or space. My child, at this time, is no longer capable of expressing who they were or doing the things they once did. My advocacy is more towards awareness about grief, sharing space and about his condition.

    Only a parent who has experienced their child acquiring a brain injury, through disease or trauma, later in life knows the mourning and pain that accompanies every old photograph, every childhood video, every backwards milestone, every part of moving forward your other children experience without their sibling, every word not spoken, every smile not taken, every dream not lived every story not shared.

    My goal here is not to discredit other parents’ grief or pain they experience with their children’s disabilities. Or their voice and message. Mine is different, not better or worse.

    I grieve what was, what would have been and what could have been. Others grieve what would have been and what could have been. Both are still grief that needs to be explored and dealt with. Both have experiences that are valid and real.

    The intent of my writing is to shed light so that when comfort or advice is shared, it is done so with knowledge and wisdom. When you approach a mama to a medically complex, rare disease, disabled child and share words, please be cautious to not put her in a stage of life she is either not prepared for or will never reach. If you do so, those words become a poison that attacks her heart and mind instead of a balm that soothes her soul. #BrainInjury #TBI #avm #PediatricStroke #RareDisease #disabilityparent #MedicallyComplexChild #MedicallyFragile #medicalmama #medicalmom #Caregiver

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