• Monica - Relapsing Polychondritis and Arthritic Psoriasis

    Monica - Relapsing Polychondritis and Arthritic Psoriasis

     

    Meet Monica! She is 49 years old and currently lives in Rome. 4 years ago, she was diagnosed with a rare disease called relapsing polychondritis and arthritic psoriasis. Monica has gone most of her life undiagnosed or continuously receiving the wrong diagnosis. RP is very, very rare, she says. The immune system attacks the cartilage in the body and can be very life threatening. Monica tells me that this disease started behind her ear. Her ENT (Ear, Nose, and Throat doctor) misdiagnosed her and waved it off as a cist. In 2015, however, her other ear had inflamed and Monica immediately knew it wasn’t just a cist. It was something else. Monica traveled all the way to the US and Italy and had doctors inform her that it was probably RP. Monica even had a biopsy done of her bladder when they found out she had calcifications in the tube she used to urinate. “I am 100% convinced that RP caused the inflammation of my bladder and interstitial cystitis is quite frequent in RP patients. When I asked online on our Facebook groups, several people had IC too. I am not in remission. I have tried many medications and they did not work. At the moment, I am trying biologicals. Hopefully, something will work.”

     

    Monica has a 9 year old daughter that she loves very much and hopes to be around her for as long as possible. She is also a part of a study that is being conducted on RP in the USA at the National Institute of Health. The study has discovered that RP affects many parts of the body, much more than she had thought. Monica gets pain in her ribs, throat, nose (all of her nose in flames and has reduced by 50% in just over a few years). “I am afraid I will lose my nose to RP. I am looking for a plastic surgeon who is willing to help me reconstruct my nose. I also get pain in my sacroiliac area and knees. This too is quite common with RP. RP patients must also often check their trachea and heart.”

     

    “I would like to speak more about RP and let people know about the current study in the USA. Hopefully they will discover more about this disease to help us patients. When I got sick, most doctors did not listen or believe me. Many times I was told I was imagining symptoms. People started to listen only when symptoms became very evident. I found this frustrating and painful. Doctors should listen more to their patients. In the USA, doctors were more helpful and willing to listen. Now, I had found a good staff of doctors here in Italy after a long search. They have spoken to researchers in the USA and are willing to investigate and learn more about RP. Other symptoms I have are bloating in my stomach, my feet hurt very often, my body can become very rigid, my hand hurts (articular pain, especially fingers), and sometimes it feels like my head is going to explode.” Monica experiences strong pains and extreme numbness due to RP. 

     

    When asked about her daily life, Monica tells me that she has both good and bad days, like most of us do. Monica tells me about how RP has been the cause of her gaining more and more weight. She tells me that she had gained 35 pounds in 3 years. “I used to be thin and agile and quite beautiful. The medicine and disease slowed me down.” Monica’s metabolism stopped and she began to gain more weight. “Cortisone was the number one cause of all of this. I am on a very strict diet and can not lose weight. But I will not give up! My looks also changed because RP is eating my nose. It has become much smaller from the point to the bridge and is going down. I am starting to look for someone who will help me reconstruct my nose. It is constantly inflamed and is shrinking in size. So I have lost my good looks quite rapidly. I also move much less because of joint pain and all this weight. For example, I can’t even tie my shoes anymore. I also have chronic fatigue, so my super energetic self now has to cope with extreme tiredness. I try to do as much as I can, but I often need to rest. I also react very badly to stress. As soon as something stressful happens, I inflame. My nose, my ears, and my throat begins to hurt. I also often get postular bubbles on my right hand and pulse and psoriasis starts. Of course, inflammation can start even when I am relaxed, but it is usually connected to moments when I am more tired. On vacation, I inflame less. At work, more. I also have noticed the worst part of my body is my right side. There is a huge difference between the right and left part of my body. Usually, my right ear inflames. Also, only my right sacroiliac inflamed. Also, I only get postular bubbles on my right hand. I have interstitial cystitis that is on my bladder on the right. IC can make life complicated. When I am inflamed, I need to go to the bathroom every 5 minutes. It is very painful and embarrassing. You have no “waiting time” and can not wait in line for the bathroom. I wish they had invented a medical card for this disease to have priority access to toilets. Also, I have lost my independence. If I want to travel with my daughter, someone has to come with me in case I get sick or something happens. This makes me frustrated because it limits my freedom and I always have to invite someone or ask them for help. When I get sick, I have very little support and solidarity from people. They all kept their distance and were never really there for me. I cried alone, went on vacation alone, went to the doctor alone, etc. That is when I realised, I did not have many true friends.” It hurts my heart to hear that Monica doesn’t have true friends to help her during such a hard and painful time of her life. No one should be going through all of that alone. Monica told me that people would sometimes call her, once in a while, simply to ask how the test went. Nobody ever accompanied her to exams. Most of Monica’s family lives abroad, so they only help when they are visiting Monica. Monica’s mom has MS and cannot accompany her and her friends are too involved with their own lives to be of any help. “So I ended up on my own so far.” 

     

    I asked Monica about the initiatives she has taken in order to raise awareness for RP and she told me, “I was interviewed by one of Italy’s most important newspapers, La Repubblica. Then I wrote to the Italian Observatory on rare diseases complaining that they did not have RP in their list. The Observatory wrote me back and published a piece with my story on their newsletter and website and included RP in their list of rare diseases. I also started the Italian Facebook page on RP and try to be active on the European and USA based RP Facebook pages. I am also part of a study on RP that is being conducted in the USA at the National Institute of Health in Bethesda. I hope this will bring more knowledge on RP and hopefully a cure. I also hope to get my Instagram page to grow. At the moment, I only have 180 followers, but hopefully it will grow so that I can gradually use IG to talk about RP and how it affects my life.” It’s amazing to hear everything she has done in order to raise awareness of RP. She has taken huge and amazing steps to help her cause, it’s extremely impressive.

    Monica wants to tell the world to be more kind and to notice people who suffer in silence. It takes effort, but it is worth the gratitude and smiles the world and you will receive in return. 

     

    If you would like to learn more about RP, please look at the links below:

     

    https://www.merckmanuals.com/home/bone,-joint,-and-muscle-disorders/autoimmune-disorders-of-connective-tissue/relapsing-polychondritis
     

    https://rarediseases.org/rare-diseases/relapsing-polychondritis/

     

    https://www.uptodate.com/contents/clinical-manifestations-of-relapsing-polychondritis

     

    https://www.webmd.com/cold-and-flu/ear-infection/relapsing-polychondritis-facts#1

     

    Please feel free to follow her journey on her social media (Instagram @monicabecate_autoimmunewarrior).

     

    - Anisha Yellamraju

     


  • Victoria - Tay Sachs

    Victoria - Tay Sachs

     

    Meet Victoria! She is currently 2 years old and suffers from the rare progressive neurological disease called Tay Sachs. Babies with Tay Sachs are born with the lack of an enzyme responsible for breaking down the fatty substances that the brain discards, called GM2 Gangliosidosis. This substance directly affects the central nervous system. The first symptoms appear after 6 months of the baby’s life. There is currently no cure yet, but several countries are working on finding a cure or at least a treatment. Babies diagnosed with Tay Sachs usually have a life expectancy of about 3 to 5 years old. Tay Sachs, as stated before, directly affects the central nervous system. It is a degenerative progressive neurological disease. Victoria does not have motor control, or cephalic, is gradually becoming blind and deaf, is being disconnected from the environment, and suffers from different types of seizures. “Tay Sachs is taking her childhood from her life in a very cruel and early way,” says her dad.

     

    Victoria’s dad calls her a warrior who does not give up fighting. As a 2 year old, she hasn’t gotten to the point of sitting, crawling, walking, or even talking. She loves to be outdoors, having the sun on her face. She enjoys sleeping beside her dad and taking nice, long and relaxing baths. Victoria’s dad has connected to other families affected in the world thanks to social media. Social media is a huge lifesaver for many who are diagnosed with rare diseases. Many families and patients I have interviewed previously all told me how Instagram was a great way to connect with other patients who may have the same disease or a disease with similar symptoms. Social media helps rare disease patients create a family. 

     

    Victoria’s dad told me that their first reactions were heartbreaking. He said, “Our world broke apart, thousands of sensations, knowing that we are carriers of a defective gene, which has no history in any of the 2 families. The fact of knowing that such an illness takes the life of your daughter and you can not do anything is what makes us grow desperate and makes us feel helplessness.” This breaks my heart hearing this. No family should ever have to go through such a thing. 

     

    Everyday is dedicated to her and finding alternative therapies, and also to get the people of the UMassMed in Boston to consider us for the clinical phase. Their daily life is very exhausting. They have not slept for more than 3 hours in a row for more than a year, but that doesn’t bother them. They want to live everyday as if it were the last day with Victoria. They have weekly therapies of kinesiology and stimulation, and speech therapy. They have monthly check-ups with the pediatrician, neurologist, and breathing kinesiology. They do therapies at home and avoid going outside so as not to compromise her immune system.

     

    The cure for this disease is being sought in 4 different countries (The United States, Spain, England, and Germany). There are several foundations that raise funds to finance research. Axovant laboratories based at the UMassMed in Boston are currently in clinical phase in gene therapy with two human patients. A new recruitment is expected at the end of 2019, or middle of 2020. In Argentina, the country of their residence, Tay Sachs is considered an unknown disease and there is no interest in investigating or gaining the knowledge regarding the disease. The lack of commitment and assistance to families with rare disease is “scary.” That sounds horrible. Having a child with a rare disease is a scary thing, and it’s even scarier when you have no support from others. I’m so sorry to hear that their family has to go through such a thing. It’s a frightening experience. “It is our biggest problem, the fact of being alone and not receiving help, just complications, there is a law of rare diseases which is useless. But our daughter does not give up. She is a warrior and that drives us to fight. Her destiny, according to science, is already written but we want to change it,” says the father.

     

    I inquired the dad about financial costs and he told me, “It is very expensive to provide a good quality of life and provide therapies. The social work does not recognize or protect what is necessary. In my country today, the economy is very bad. Argentine peso compared to the US dollar is huge. The fact that investigations are carried out abroad scares us even more, since it is very expensive to pay for trips and stay in foreign countries where our currency is not worth anything.” The father ended up selling his shop in order to stay with Victoria. The mother is a police officer, and after pleading and pleading, she obtained a special service to be able to spend more time at home. It costs a lot for medication. “The vast majority of medication have a high cost. We import and experimental drug from France, which being expensive, is more expensive for us. Anticonvulsants are expensive, but we managed to replace most with homemade cannabis oil, because Charlotte imported from the US at dollar value is also expensive, and social works do not want to cover it.”

     

    They have focused on taking initiative through social media and are fighting now to get on television media, which is difficult because Argentina only sells the yellow press news as important as knowing that there is a high rate of carriers. Children have been dying for decades in Argentina and nothing has been investigated. “We are still fighting the case of Victoria and the disease is slowly coming to light.”

     

    I asked the father, if Victoria could tell the world anything what would she say. He told me, ”Every child that is born deserves a chance to live, which is not a number for statistics, it is a life, it’s life that is at stake.”

     

    “In spite of the sure prognosis, in spite of knowing what the final result will be, we do not lower down our arms. We continue fighting. We face each day as if were the last one, while still loving it and giving it everything so that her stay is as possible as possible. Tay Sachs is a cruel disease that takes away children’s childhood and lives. We need a cure now!”

     

    If you would like to learn more about Tay Sachs, please view the links below:

     

    https://ghr.nlm.nih.gov/condition/tay-sachs-disease

     

    https://medlineplus.gov/taysachsdisease.html

     

    https://kidshealth.org/en/parents/tay-sachs.html

     

    https://www.health.harvard.edu/a_to_z/tay-sachs-disease-a-to-z

     

    https://www.ntsad.org

     

    If you would like to follow along on their journey, please follow them on Instagram @ella_en_329mil.

     

    • Anisha Yellamraju


  • Luisa - Distal Arthrogryposis Multiplex Congenita

    Luisa - Distal Arthrogryposis Multiplex Congenita

     

    Meet Luisa! She is currently 23 years old and has Arthrogryposis Multiplex Congenita. She was born with muscle weakness, hypodysplasia, stiff shoulder joints, and scoliosis. Due to this disease, she required surgeries due to her motor functions not working as well as they should. She always seemed to be a bit clumsy. Luisa actually went undiagnosed for quite some time as her doctors didn’t realize it was a neurological disease that was causing problems to her body. They originally thought that it was just an orthopedic problem.

     

    When Luisa was going through puberty, her neurological symptoms got much worse. She told me that she had gotten Ataxia and began to have more problems standing up and with her balance. Due to this, they began testing her for any genetic problems, but couldn’t find anything wrong. At the age of 15, Luisa got her first wheelchair. She was often treated as if she was healthy, since no one could truly diagnose her. Many doctors felt that she didn’t even require the use of a wheelchair. All this because she went undiagnosed. Hiding her disability was hard, because she seemed to develop extreme nerve pain and all of her other symptoms only worsened. 

     

    As stated before, Luisa went undiagnosed for quite some time. After she lost muscle control in her legs and could barely walk, she began to search for a diagnosis somewhere else, knowing she wasn’t going to receive it from her doctors. After some time, she got a new neurologist that genetically tested her and finally told her the diagnosis. She had a PIEZO2-Gene that was defect. Her disease is autosomal recessive and nobody actually knows how to treat it yet. She was lucky to find a doctor that could diagnose her, but no one was familiar with what the disease even entailed. She has done a lot of research and found only a mere 2 people on the internet with this gene defect, both of them being toddlers. She couldn’t compare her symptoms and whatnot with other patients. Her disease is supposedly different that others and affects mostly the central nervous system. 

     

    “My disease is called: Distal Arthrogryposis with impaired proprioception and touch.

        Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood.”

     

    There aren’t many people in this world with this disease (as stated before, she had only found 2 others with this disease), because this special kind of genetic testing is fairly new, about 1 or 2 years old. She hopes that there will be more people who get their diagnosis so they’re not left in the dark and left undiagnosed. Being undiagnosed is a scary thing. You know you have something wrong with you, but you don’t know what. Luisa doesn’t wish this upon anyone. With more people getting their diagnosis, there will be more research available.

     

    Luisa is 23 years old. She is married and currently lives in the north of Germany with her husband and her dog. She will start attending school in order to become a speech therapist soon! She says, “I started with the whole instagram thing to finally accept my disability, spread awareness, and to reach out to other people with similar problems. If you have such a rare disease, it’s hard, because you have to be your own advocate. You have to decide when it’s time to use a wheelchair, a cane, or any other mobility aid. There’s nobody you can compare yourself to. Instagram helps me a lot and I got in contact with so many beautiful disabled people, especially people with similar nerve diseases who understand me. It feels good to know that I am not alone with these kinds of problems.” Social media platforms, like Instagram, are a good way to connect with other rare disease patients. In fact, social media is how I found the people I interviewed for this blog!

     

    I asked Luisa how her disorder affected her social life with family and friends growing up and she told me that it was hard. “It was hard sometimes, I always felt that I was different and I was always ashamed of it and thought that my disability was my own fault. I got bullied in school. I had to wear an orthopaedic corset for 8 years. I think my family is overstrained sometimes. Some of them don’t even know that I have an actual disease. They always thought that I just have some dysplastic joints. I think it’s generally hard to accept for healthy people and it’s possible to be chronically ill and still look ‘normal’ to them. I think some of them still think my mobility aids are a burden, but they mean a lot of freedom for me actually. Most of my friends today also have a disability. It’s easier, because they know how I feel and experienced similar things.” No one should be bullied just because they’re “different.” I wonder when this world will become more inclusive of everyone.

     

    Luisa tells me that she is very lucky, because her husband has a good job. Due to this, she doesn’t necessarily have financial problems. In Germany, she tells me, it’s possible to get financial support, if you are too disabled to earn money by yourself. It’s difficult to get that support and they control the income of the partner too. She doesn’t have the chance to always get extra support. Health insurance pays for a large part of Luisa’s medication and mobility aids. She does end up having to pay a small amount and she says that it is a burden on the purse. She will start education as a speech therapist next month and hopes to earn money in the near future.

     

    When asked about her and her family’s initial reaction to finding out she had the disorder, she told me, “It seems to be weird, because most of the people think that a diagnosis is nothing to be happy about, but it was one of the best moments in my life. We were searching for so long and now I had all the proof for all my symptoms. When my parents heard about it, they were a bit worried, especially of the possible muscular atrophy. But most of my family doesn’t understand it, because my illness is so complex and some of them didn’t even know that I was searching for it for so long. Most of my family members live in the south of Germany and don’t get to see me that often.” Luisa has a little sister who also has scoliosis and hip dysplasia, but doesn’t necessarily have any neurological symptoms. She hasn’t gotten tested yet.

     

    Luisa’s daily life consists of having a lot of physical therapy and doctor appointments at the moment. She tries to handle the household work as much as she can. She tells me that she is a Spoonie, “spoonies may appear healthy and able-bodied, especially when they are young.” Luisa has to rest a lot and she tells me that she is in pain always, which is why she is getting new medication that makes her sleepy. Luisa’s family has a dog and she’s always trying to take walks with him as much as she can. She knows her daily life will change a lot in a few days, when she starts pursuing a career as a speech therapist. She’s extremely nervous, because of her low energy levels, but this doesn’t stop her excitement to get out of the house, have something to do, and find new friends!

     

    I asked Luisa to tell something to the world and she said, “I would tell them to be more tolerant and that disabilities don’t have to always be visible. I would tell them that people with disabilities are normal people like everyone else. It still seems like most of the people don’t know how to react to someone with a disability. They stare and they act so awkward. There’s also still a big problem with Ableism. Her in Germany, most of the people don’t even know what Ableism is. It’s like they don’t want to admit that there’s a problem with it. And if you’re young, there will always be people who won’t believe that it’s possible to be chronically ill that young. There are so many problems with people who stay unspoken, because abled people don’t care or don’t admit that they even exist. That needs to be changed!” That is absolutely true. People with disabilities are often frowned upon, and that shouldn’t be the case!! People with disabilities are still human and should be treated that way!

     

    I absolutely loved interviewing Luisa, and you can even check her out on her Instagram @wunderkrabbe.

     

    Unfortunately, I could not find links regarding this disease since it is so rare. If you do find a link, please email me at anishay@theraredisorderjournal.com!

     

    - Anisha Yellamraju

     


  • What is the purpose of raising awareness of rare diseases?

    A few days ago, someone asked me a question. That question was, “Why do you want to raise awareness for rare disorders? Like, how is it going to benefit the patients?” First let’s start off with answering the question, “What does it mean to raise awareness?” According to the dictionary definition, awareness means the state of knowing or to be familiar with something. We raise awareness to bring knowledge of something unknown to others. By doing so, many more people are aware of the problem in hand and work to fix it. I started this blog to raise awareness of rare disorders. Rare disorders are, well, rare. There are uncommon and unheard of, therefore when patients get diagnosed with a rare disorder or disease, it’s extremely scary. Raising awareness for rare disorders actually does many things.

    1. It introduces others to rare disorders that are practically unheard of and it educates them.

    2. By spreading the word, we also increase chances of doctors being able to diagnose a rare disorder easier and faster (rare disease patients sometimes go many, many years with a wrong diagnosis or no diagnosis at all.)

    3. Spreading awareness also raises funds which can help with research in order to find a cure for some rare diseases.

      - If they cannot find a cure, research funds can be raised in order to make a rare disease patient’s life much easier.
    4. By educating others, we can stop exclusion. If people know of these rare diseases and why it makes someone different than others, the act of inclusion will increase, not only in schools, but also in public areas such as work places, etc.

    Raising awareness for these rare diseases can change so many family’s lives. You all have no idea how many times I have been told by a family or patient that their doctors initially had no idea what disease they have and they go undiagnosed or are diagnosed with the wrong thing. It’s a scary thing. I started this blog to raise awareness, meaning to raise funds, increase inclusion in public environments, find cures, inform and educate others, etc. Just by spreading this blog, you can truly change one’s life. There may be someone out there with Cutis Laxa Type 3 or Cardiofaciocutaneous Syndrome that need to connect with someone else with the same exact disorder. Rare disease patients need a voice, and I truly hope to be that voice for them. You can help make a difference.

     

    - Anisha Yellamraju

     


  • Anna Violet Day - PMB/ZSD

    Anna Violet Day - PMB/ZSD

     

    Meet Anna Violet Day. She’s 5 months old. She has PMB/ZSD (peroxisomal biogenesis disorder-Zellweger spectrum disorder). PBD is a rare genetic autosomal recessive disorder. It’s generally terminal in childhood and there’s no cure for the disorder. The treatments for it are symptomatic and different types of symptoms are hearing loss, vision impairment, global development delays, neurological issues, adrenal insufficiency, feeding difficulties, liver and kidney issues, and it can really affect any and every aspect of the body. 

     

    When asked about the parents’ initial reaction to finding out their daughter, Anna, had this rare genetic disorder, they responded with, “When we first found out, there were lots and lots of tears. We were still in the NICU when we found out. For me it was more shock than anything, like it was kind of hard to fathom that our daughter had been given this diagnosis and that there is no treatment or cure. It kind of gave us like a brick wall.” Their reactions are completely justified. It’s hard finding out your child has a rare disorder that not many have heard of. It can put your child in a danger zone when no one knows what rare disorder your child has and has no idea what to do to treat their symptoms. They said, “We were quite lucky as far as our diagnosis goes,” says the father, “We live in Tennessee and they take part in newborn screenings, which does screen for certain chromosomal issues. Not her disorder specifically, but it picked up the fact that there was an abnormal chromosomal issue and then after further DNA testing, we were able to narrow it down to find out exactly what.” I had asked them how long these screenings and testings took. They told me that the first test took about 2 weeks and, “when the abnormal results came back, they retested to make sure and it came back abnormal again. They told our doctor exactly which genes had the abnormality. They took her DNA and it was synced to Baylor University in Texas for further screening to give us an official diagnosis.” The doctors that had diagnosed the baby had no idea what Anne could have had. “They did what almost every doctor does. They Googled it at first. The sad part is that about 90% of everything on Google is either outdated or wrong. We were just lucky in the fact that the hospital she was born at was more than willing to fess up to the fact that they had no idea what it was. Luckily, we’re in Nashville, so we’re close to Vanderbilt University where there actually was a physician who was familiar with it. They pretty much built an entire team at Vanderbilt for her. They even brought in doctors from Canada for her.” This family was extremely blessed to have people who knew what they were doing to treat her. Many families I have interviewed were confused throughout the whole process and still have no clear idea as to what their child has. The fact that they set up a whole team for Anna Violet is amazing. 

     

    Anna Violet’s dad told me about a foundation that really, really helped them in a time of need, The Global Foundation for Peroxisomal Disorders. It’s a kind of organization that really helps bring sciences and researchers and doctors together with the families. They help fund research. They work with Harvard University and McGill University in Montreal. They have a scientific board made up of pediatricians from the researchers from Switzerland, China, and all over the world. The father tells me how they brought them to Washington, DC for their biannual family/scientific conference where they were able to get Anna Violet examined by the scientific board. Anne is truly blessed to be receiving all the help she is getting. They have had around 509 registered patients, and 250 living patients currently. 

     

    The next question I asked the family was how their daily life is. They told me that their daily life was very complex, because Anna does have feeding issues. They told me that they feed her every 3 hours. “Part of the issues is that she’s not able to break down long chain fatty acids. She needs a very specific type of formula that she can use. It’s made from a plant based protein. It makes it easier for her liver to process things. We have to check her temperature every couple of hours. She gets cold really quickly.” They go through physical therapy, speech therapy, the normal stuff everyone does with a baby. Caring for Anna, they tell me, is definitely a 24 hours thing. The mother had to quit her job in order to care for the baby, however, the father keeps on working. It’s definitely a struggle to have one income supporting a whole family, especially a child with such a rare disorder and require special attention and treatment.

     

    Anna is a very sweet baby who absolutely adores riding cars, as long as they’re not stopped. “She has a little polar bear. It’s like a little stuffed bear with a little pacifier on the end that she loves. She’s got 5 of 6 other ones, but all she wants is that one. She loves to watch cartoons. She is deaf and we have hearing aids for her. Maybe later on in life, she may be a candidate for a cochlear implant. Depending on how her growth goes from here until probably about 2 or 3 years of age… She’s very small for her age. She’s 5 months, but she only weighs 9 pounds (basically a newborn baby’s weight!!). When she was born, she weighed only about 4 pounds 6 ounces.” Anna Violet was not born deaf. She was able to hear when she was born, but lost her hearing quickly after that. “We have to carry emergency cortisol shots. We have to carry, you know, different types of emergency medications. We have to have paperwork copied in my car, her car, at work, at our parents house, and basically anywhere she could possibly be.” This is due to the fact that PBD causes sudden and unpredictable changes. They have to be prepared for any and all situations and have everything they need in hand just in case anything goes wrong. They carry all that information, because if something ever does go wrong, they can just give that information to the EMTs on how to treat her. Anna Violet is not a real big fan of crowds at all. “We think that she may have some sensory issues, but as of right now, cognitively speaking, she’s right where she should be. She does have some liver issues and endocrine issues and things like that, but we are part of a research study for a drug called ColBam (not sure as to how it is spelt).” This drug is the only FDA approved drug that will actually treat Zellweger patients for liver issues and myelin in the brain. “Other than that, she’s just your normal, very tiny, 5 month old baby.”

     

    When asked about the parents’ social life, they told me that it’s hard, because it’s difficult to explain such a rare disease to their friends. It’s not exactly common knowledge, as if it’s like cancer or down syndrome. They get tired of hearing things like, “It must be so hard.” And that’s completely understandable. Like, they understand that it’s hard and they don’t need to hear it over and over again. Their family has been very helpful. They take any chance they can get to pitch in and help with Anna, according to the parents. “When we do go out, it feels like we are packing for a weekend trip, because we have to have lots of things. She has to have her formula and all of that.”

     

    They advise other parents that may have a child with a rare disorder to be patient with your child and with everyone else. “Be prepared to answer the same questions over and over again. My number one piece of advice is that no matter what the disorder is and no matter what the symptoms are, you are your child’s advocate. They can’t speak up for themselves. It’s up to us, to not only bring awareness to our specific set of disorders or you know the rare disorder community in general, but it’s also up to us to be advocates with the hospital, the doctors, with the pharmaceutical company. We’re the ones who have to stand up and say ‘yes.’ You have to be very, very vocal. You can’t be quiet, you can’t be meek. You have to stand up and take the bull by the horns and run with it and your child’s life will be better for it.”

     

    They want you to know that you’re not alone. Your neighbor is not going to have the same experiences as you, but you will never be alone in this world. There will always be someone in this world, you will eventually meet, that will bond with you over your differences.

     

    If you would like to learn more about her disorder, please view the following links below:

     

    https://rarediseases.info.nih.gov/diseases/11890/peroxisome-biogenesis-disorder-zellweger-syndrome-spectrum

     

    https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79189

     

    https://www.simd.org/Links/PBD-FAQ-updated-june-2012.pdf

     

    https://ulf.org/the-zellweger-spectrum-2/

     

    Some parts of the interview were left out, but you can view them on our new YouTube video!

     

    Make sure to follow our Instagram @theraredisorderjournal and make sure to follow Anna Violet on her Instagram @anna_violet_zsd.

     

    - Anisha Yellamraju

     



Recent Entries