• Sarah - Apert Syndrome

    Sarah - Apert Syndrome


    Sarah, grade 2, has a rare disease called Apert Syndrome. Apert is classified as a craniofacial anomaly, but it affects every bodily system. Common problems include sleep apnea, chronic sinusitis and ear infections, trouble breathing, fine motor skills delay, cardiovascular issues, psychological/behavioral diagnosis, and skin disorders. This rare genetic condition is apparent at birth, according to rarediseases.org. “People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet.” 


    When Sarah’s mother and father found out that Sarah had this disorder, they cried together. They had no idea what they had to expect in the future of their daughter, and it was all scary to them. “We had no idea prenatally,” Sarah’s mother, Jeannie, said. Honestly, this is not the first time I heard of parents being scared. I don’t know the experience of having a child myself, but from what I’ve heard from other parents that I have interviewed in the past, it’s scary. Scary isn’t even the word to describe it. It’s more like terrifying is the right word for it. However, the love that these parents have for their children is unlike any other. Regardless of not knowing what to expect, these parents keep their children and treat them amazingly. They take amazing care of them. Jeannie is no exception. She has another child with OCD and ADD, and honestly, she is a role model, taking care of her children knowing that there is no way she can predict the future of her children, which is immensely terrifying. I commend her for her hard work, and it also goes to the other parents I have interviewed as well.


    Like many other Rare parents, Sarah’s family’s life revolves around appointments, appointments, and more appointments. “Everyday something is scheduled, whether it’s a check-up, follow-up, initial intake, therapy/counseling, IEP case conference, etc. Sarah takes specific medications with breakfast and different ones before bedtime. She wears a CPAP (continuous positive airway pressure: a breathing therapy device). Because she has a lot of support in place, we have finally established a routine, but it’s still difficult to juggle it all with 5 kids.” Many parents have told me that taking care of a rare child is not easy at all. Kudos to Sarah’s parents for not only taking care of ONE child, but FIVE children. 


    I asked Sarah’s mother what this does to their family financially and she said, “During the first 3 years of Sarah’s life we had to do big fundraisers annually in order to stay afloat of the medical bills. She had the majority of her surgeries during that time. Then she qualified for the Indiana state waiver program called the Family Support Waiver. From that, she receives Medicaid as secondary insurance, which has greatly reduced the financial burden on our family.” Parents who have children with rare diseases usually struggle financially. I’ve heard a lot of stories of parents who have had to quit their jobs to take care of their children and that they usually rely on the government or on donations. I have a donations site set up in order to provide for those who really need the money, so feel free to check that out and donate! Anything helps!


    Sarah wants everyone to know one thing: “Hi, I’m Sarah, and I love to make people smile.” Sarah, it is so nice to meet you. Although I did not get to meet you in person, just hearing about you through your mother makes me very happy and it makes me smile. I want you to know that I think you’re an extremely brave child, and you have the best parents in the world who love and care for you. I hope that when you get older, you read this message and know that you are extremely fortunate to have people who love and care for you very much.

    So everyone has a support system, and Sarah has had many people who have been supporting her in her journey. Sarah’s mother tells me, “Actually, everyone in our sphere of support has been very, very accepting of Sarah. We have very rarely experienced difficulty with others in our lives loving Sarah as she is. I would say that it’s still a long, arduous journey when you have a child with a rare disease, because so few people truly understand it - unless they are living it. And it’s hard to find others who are living the same reality you are. To others who have kids with Apert syndrome, just take each day as it comes. TAhere will always be surprises - good and bad - but remember to love your kid and take the time to notice how she/he is blossoming in his/her own way.” Jeannie ends the email with a very inspiring message, not only to those who have children with Apert syndrome, but also to those in the Rare family. You are not alone at all. You have a whole entire family behind you who will continue to support you in all your endeavors. I hear of rare patients doing incredible things all the time. I mean, take a look at Isabel Bueso. She did not let her rare disease stop her from doing huge and life-changing things. Don’t let a disease stop you from doing what you are passionate about. Trust me, you will always have people out there who are going to stand by you, always. I’m one of those people, I promise.


    At the end of the day, you matter. You are in this world for a reason. It doesn’t matter if you aren’t like the rest, because, I mean, who wants to be like the rest, right? You want to stand out and be your own person, am I right? Pursue your passions! Do what makes you happy! Ignore what anyone else says. You do you.


    It’s been a while since I have posted on this blog. I have been so busy with just life. Now that I’m getting into college, and getting more used to it, I will be able to update the blog more often. I’m actually getting into rare diseases, such as Tay Sachs, and am trying to pursue a career in research. Thank you all for helping me find my true passion. Thank you for letting me be a voice for you all. It makes me feel so happy knowing that you all trust me to tell your story on this platform.


    If you would like to read more on Apert Syndrome, please check out the following links:\










    • Thank you!

  • Melissa Quekel - Type 9B Glycogen Storage Disease

    Melissa Quekel - Type 9B Glycogen Storage Disease


    Meet Melissa Quekel. She is currently 22 years old and lives in the Netherlands. Melissa is diagnosed with Type 9B Glycogen Storage Disease. This disease is a rare metabolic disease that affects the muscles and liver. Melissa Quekel lives with her fiancé in Noordbrabant in the Netherlands. They both love animals so much that they have a dog, a bird, a hamster, and many special goldfish. Melissa likes to put together puzzles, she likes to read, watch movies, and walk long walks. She works with disabled people. For this work, she participates in large meetings and is an ambassador for healthcare and welfare. She promotes work in the care for the disabled and provides information and courses. “I’ve always enjoyed writing, being interviewed, or explaining to others. I also give extra tutoring to other students at work about my condition or work at school. I also help students with assignments and I explain everything. Now that I am at home, I also like to write about my condition for my Instagram page. I hope to be asked more often in the future for interviews or something similar. For more awareness and acceptance.”


    Melissa says this disease is currently changing her life a lot. She says, “Until December, I always worked. I have had this disease all my life, but since December everything has been worse. I am at home now and cannot do much. I can’t make intensive or long efforts, because then my muscle complaints worsen. I also have almost no conditions. Due to my illness, I also have to always eat on time, think about my medication, and monitor my glucose levels. I can’t do the things that I want to do right now. I also have many appointments at the hospital.” She has had trouble since December dealing with this disease and honestly no one should have to go through this. 


    The initiatives Melissa is currently taking to raise awareness about this disease is that she regularly talks about her disease on her Instagram page, with her friends, and with others who have the same disease as her. She thinks that it is very important not to hide your disease, but to talk about it and to embrace it as something that is a part of you. The more people see something and ask, the better it is. You start small but more and more people become interested in what is different about you and how you deal with it. 


    Melissa wants to tell the world, “It doesn’t matter where you live, which rare disease or condition you have, or what you look like. It is about how you feel about it and what you can do with it. Do you want more awareness for rare diseases and disorders like me? Then don’t keep thinking this or just say that to one person. Make sure you are open about it. Make it known by talking about it as much as possible! Everyone is different, but you don’t always see that immediately.” I love, love, love this so much. Everyone is different in their own way, and some people may not always have a rare disease, but it doesn’t take away from the fact that not everyone looks the same, or not everyone acts the same, or not everyone likes the same things. Everyone is different and we must embrace that. We shouldn’t try to be like other people. Rather, we should try our best to be the best possible version of ourselves.


    Melissa’s advice to other patients is to talk to others in the same situation. She says, “You can learn so much from each other and get useful tips! Also nobody understands you better than someone who experiences exactly what you experience. What I certainly find important is to look at what I can still do despite my illness, and not at what I cannot do! It is not always nice or easy but I make the best of it and I am realistic about my current situation with my disease.”


    Melissa is a very strong woman who has amazing goals that she hopes to achieve. I am absolutely positive that she will reach those goals. She has amazing intentions and she is striving for absolute excellence. She is an optimistic person and always looks for the best in others. I love that about her. She is someone I want to be. She has the attitude of someone I hope to be in the future. I’m glad I got to interview her, and this blog post may be a little late (due to the COVID-19 panic), but it’s finally out!


    Here are some websites with more information regarding this disease:






    Feel free to check out her Instagram account @melissaquekel.


    Thank you!


    • Anisha Yellamraju

  • Elle Hazlett - EDS and CRPS

    Elle Hazlett - EDS and CRPS


    Meet Elle Hazlett. Elle is an artist. She loves drawing and tells me that she has been drawing since she was a preteen. She recently invested in the tools for digital art and she is in love! “I started a RedBubble shop and am very excited about it. I want to make all kinds of designs but I think it’s pretty cool to continue my advocacy there by creating some designs for rare diseases too.” Elle has a love for coffee, like 3/4 of the world does. Elle was homeschooled all the way up until college, which turned out to be really good for her since she got to take a year off school when she got sick (“but I was already a year ahead because I did school with my twin brothers so I ended up graduating on time”). “I have three older brothers. The twins are 11 months older than me and I’m the youngest. We are really close which I love about us. We actually all went to the same college and for one year, we were all there at the same time. It’s been really helpful to have them. The twins just graduated and I have one more year left. I’m also a big animal lover. My dog passed away last year, but I loved him very, very much and fully intend to have to have lots of dogs once I have my own place. I can’t remember if I’ve mentioned this yet, but I’m also hoping to get a career in Rare Disease/disability advocacy so I’m obviously very much involved in that. I just finished a month-long campaign on my Instagram for EDS Awareness Month (feel free to check that out!) and I plan to do it again in October for CRPS Awareness Month since I got some pretty good feedback on it. I also want to start a blog very soon where I can write more about all of this too.”


    She is diagnosed with two different conditions. She was diagnosed with the first one a week after her 16th birthday. It is called Complex Regional Pain Syndrome (CRPS) and she says that “it is the most painful condition known to modern medicine.” It causes the nervous system to be hyperactive and hypersensitive. This causes extreme burning and stabbing pain in the affected areas. This pain can be triggered by vibrations as small as a voice or the breeze as an A/C. “Mine started in my left ankle which had been broken in a gymnastics accident I didn’t cause. It eventually spread to my entire body. I received what I believe to be a lifesaving treatment for it when I was 17 but before that I was bed bound and with as little light and sound stimulus as possible. A year after starting that treatment, I even went to college. So it’s my miracle to say the least.” The second condition Elle has is called Hypermobile Ehlers-Danlos Syndrome (hEDS). “Although this condition is congenital, I wasn’t symptomatic until I got CRPS because I was always very fit. hEDS is a connective tissue disorder that causes damage to collagen making the connective tissue fragile and far too stretchy.” There are 13 different subtypes of EDS based on what system it affects most. I have interviewed people with EDS before, and I have even based my book on a girl who has EDS. Even one of my favorite actresses, Jameela Jamil, is diagnosed with EDS and is very open about it. Elle’s EDS (hypermobile) primarily affects her joints. “I’ve always been incredibly flexible (hence gymnastics) but after I became symptomatic, I started having more and more subluxations and dislocations. It also causes something called Dysautonomia (specifically POTS in me) which makes my sympathetic nervous system hyperactive. So my HR is always high and I get dizzy really easily, and I have anxiety.”


    I asked Elle to describe her daily life for me and she said, “Well, it can vary. Currently since I’m not in school, I can afford to take the time to rest when I need it. I have really bad insomnia and have barely slept this past week so I’ve been kind of a sloth as of late. Fatigue is one of my biggest limitations. I have to be very careful how I spend my time (ever heard of the Spoon Theory? It explains this perfectly). I’ve kind of just developed small coping mechanisms for each little thing I deal with. For instance, I have to give speeches in classes sometimes. We can do them from notes but I always just pretty much memorize them because I’m dyslexic. I also study in very short blocks and switch between subjects a lot to fight off brain fog. I’m very careful about what I eat and where I go (I’m allergic to fragrances so I stay VERY far away from places like Bath and Body Works and the mall most of the time.) I do several treatments a day. I take many supplements to help with the vitamin and mineral deficiencies I have. I take baths with epsom salts and baking soda as a very gentle detox (my body does NOT do well with most detoxes because of my MTHFR mutations). And lastly, I do a treatment called VECTTOR every night (I think I mentioned it above). It’s an electro stimulus machine.


    I asked Elle what her initial reaction to getting diagnosed was and she responded with, “Well the most noteworthy one was the first diagnosis of CRPS. I was really lucky to get only fairly early and also lucky with how I got it. I had been in immobilization following my gymnastics accident for 17 weeks without improvement. My sports med doctor reluctantly sent me for more imaging. It was actually the radiologist who suggested I had CRPS based on his findings. When I went for my consultation with the doctor, he didn’t examine me at all. Barely even looked at my ankle. He told me that I didn’t have it. He then said even if I did, I’d grow out of it (firstly, that’s false and secondly I was sixteen. I had been done growing for about a year and a half.) Then he told me to look it up online because there are a lot of people who think they have it but they really don’t. Obviously, my mom immediately looked it up when she got home. She was shocked at it because the people she was reading about were in so much more pain than me. But as the months wore on and I got worse and worse she realized that the radiologist was correct and we had to go to several more doctors to get the official diagnosis. I was diagnosed with my EDS by a doctor who was originally treating me for CRPS. He specializes in CRPS and he knew that EDS was a comorbidity of it. Having heard I was a gymnast, he asked about symptoms associated with EDS and then diagnosed me with Hypermobility Syndrome (which is clinically the same thing). I was diagnosed with POTS by the TX doctor that saved my life. He did a whole day's worth of testing when I first got there and found out by testing my circulation that I had POTS. I’ve had a lot of doctors (especially early on) who clearly just spent five minutes on their lunch break looking up CRPS and then seeing me “look fine” in their office for a few minutes and tell me I don’t have it or it’s all in my head. This can be very frustrating and anger inducing because doctors never see the worst of it. They only see the best of me when I’m trying to hold it in and ‘look normal.’”


    Elle has been such a strong advocate for rare diseases. She had her first experience with advocacy at the Be The Match student organization at Calvin University. “My friend asked me to be his VP freshman year and I’ve been doing it three years now. I just took over as president. BTM helps find bone marrow donors for people with blood cancer, coincidentally most of which are rare! I loved my experience there and ended up speaking on a couple of disability panels at my school because I was asked by my disability coordinator. I was happily surprised at the response and genuine curiosity of people to understand the experience (I think most people are too scared to ask in normal conversation though. I try to be open and frank). Last summer, as part of a research fellowship program, I worked with two professors (from Biology and Chemistry) who started the Rare Disease Research & Support Group at Calvin. They do research on BCS1L mutations but have been wanting to do more for the patients. That’s where I came in. I had recently switched from a biochem major to a communication major so I had the right mix of understanding in science, experience, and also some communication skills. My main project was writing a K-5 curriculum to educate children about rare diseases (since 50% of rare disease patients are children, yet before this, there was no curricular material for them). Along the way, I picked up more projects. I was added to the Rare Disease Day Symposium 2020 planning committee. The event was on Feb 29, 2020 and about 400 people were in attendance. Beyond helping plan the event, I also collected a group of panelists for the patient panel. I hosted, moderated, and participated in the panel. It was by far the most fulfilling experience I’ve had. I had gone to the previous symposium in 2018 (I was invited by one of the professors I ended up working for!) and it was an incredible experience. It was the first time I had ever been around so many people like me who cared for me. I was so moved by the patient speakers in 2018. It was so incredibly humbling to get the same reaction as a speaker in 2020. At the symposium, I also piloted the materials I had written twice in breakout sessions (which I’d also previously piloted several times including with some Girl Scouts). Then I gave a wrap up speech on the breakout session in the general closing session. During my work last summer, I also met a couple of people with whom I started a NORD chapter of Students for Rare at my college. We’ve hosted movie nights, speakers, and plan to do so much more! I am the president of that student org and we’ve been active since this last fall (@students.for.rare on Instagram if you want to see what we’ve done). I was only supposed to be working with those professors for the summer, but they kept me on to continue working on the materials and symposium through fall and spring. I’m not doing a lot for them this summer (COVID and all) but have another internship with them in the fall again. I am helping to plan the 2020 symposium. As far as personal projects, for the month of May, I posted once every day about what it’s like to live with hEDS (May is EDS awareness month) and I plan to do it again for cRPS in October. Like I said, I love art, so I’ve been making a few awareness designs for my RedBubble shop that I just started this summer. Oh, almost forgot! Whilst I was at the 2020 symposium a Public Health GVSU professor asked me to come speak at her class and I also made a connection to the CEO of NORD (which is like my dream job, so very exciting!). I have yet to meet my professors about what projects besides the symposium I’ll be working on in the fall, but I’ve been assured that they have lots of ideas for me!”


    Elle’s advice for others with the same disorder would be, “Well firstly, I’d say get connected. It’s really hard to do this on your own and having people who truly understand what you are going through is priceless. I met most of my CRPS friends on a Facebook support group (and I wished I’d have joined in sooner!). Secondly, and this can be a tough one, but you have to find a way to always hope. It can be very overwhelming, especially when the treatments you’re trying aren’t working, but people with this disease have gotten better; some even into remission! You are never too far gone to have hope! And if you are struggling with this, try to have a close group of people (whether it be family, friends, or other CRPS warriors), who can get you through a rough day. When someone posts about a rough day on my FB support group, the comments become inundated with kind words, prayers, and of course memes (because laughter really is the best medicine!). Nothing beats the support of a community you know will have your back and lend an ear.” I absolutely love this advice. She is absolutely right. It’s always better to have someone to go through struggling times with than facing them alone. Social media is a great way to meet people who have similar interests in you or, in this case, the same rare diseases. My advice would also be for those who have rare diseases to get social media, because nowadays, that’s the easiest way to make friends. Facebook and Instagram have tons of pages that will cater to you. So check it out!


    Elle’s message for the world is, “Compassion. When I think about all the negative experiences I’ve had with others relating to my illness, the majority of them stem from people not understanding my illness or my limitations. I never want to force my worldview or opinions on people. However, I think if people at least know where I’m coming from, there’s a lot more of a chance for us to have a healthy discussion about it and maybe learn something from each other. The wisest people never stop learning.”


    Elle has truly been the most patient person ever. I have been responding late recently due to loads of work that has been piling on me. I haven’t been the most active person, this whole summer, but I plan on getting back to interviewing, writing posts, and posting on the blog. I have been working on a few projects, including a research article and project on Tay Sachs and the gene therapy that is working to find a working cure for it. I don’t want to say too much, as I’m not sure where it will be heading. Right now, it’s an idea that I’ve been putting together, and I hope to finally put that idea into reality. If you’d like to help with the Tay Sachs article, please reach out to me! My email is below.


    If you’d like to learn more about Elle’s diseases, please visit the links below:






    Contact me via email at anishay@theraredisorderjournal.com


    Love you all and thank you for the patience,


    Anisha Yellamraju


  • Erling Longman - Tango2

    Erling Longman - Tango2

    Like most two year old children Erling Longman is a happy little boy however, Erling is still rare. He has a very rare genetic disease called Tango2. There are only around 100 known cases worldwide, although there are probably many more children, adults and families who are affected but remain undiagnosed. Erling’s disease has impacted many aspects of his life and will continue to do so until a cure is found. He was born a healthy baby and, for the first year there was no reason to suspect he had a life-threatening illness. He met all his milestones and was walking by his first birthday. Soon after this Erling started having unusual episodes. On a daily basis, he would become lethargic, drool, lose speech, his eyes would become unfocused and he would lose the capacity to walk or even to crawl. Over time it became evident to us that he was no longer making his milestones, that his legs had become very stiff and he found speaking very difficult. 

    As parents, we were worried, and met with many doctors, had medical tests including admission to  hospital with suspected Epilepsy and Ataxia. Fortunately, Erling’s Paediatrician had cared for one other Tango2 patient. She connected the dots, took some blood and Erling was diagnosed with Tango2 just after his second birthday. This recessive genetic disease was no one’s fault and could not have been stopped or predicted. Tango2 is a type of neurodegenerative metabolic encephalopathy. In simple terms this means Erling’s body does not make energy and get rid of waste correctly and, over time, this can damage his nervous system and brain. This diagnosis meant that Erling would have physical and intellectual disabilities. Even more concerning, he could be hospitalised or even die from a metabolic crisis or a cardiac arrhythmia at any time. 

    In the months since his diagnosis Erling has started on a cocktail of supplements which have greatly improved some of his symptoms and his quality of life. However, very little is known about this disease, no approved medicines exist and without significant research, his life will remain at risk.   We are so proud of this little boy. He has a smile that radiates love and a laugh which nobody could resist.  Whilst he has hard days and a rough road ahead he is full of joy and we remain optimistic for his future. Erling lives in Western Australia with his mum dad and sister. Please consider giving during February, rare disease month. 

    To learn more about TANGO2 Disease, visit the TANGO2 Research Foundation's website at https://tango2research.org/ or find us on Instagram @tango2researchfoundation 


    Thanks for your work and passion for these rare individuals.


  • Rodion - Barth Syndrome

    Rodion - Barth Syndrome


    Meet Rodion! He is 3 years old and is diagnosed with the rare disease Barth Syndrome. There are about 300 people in the world with this rare disease. Bart Syndrome causes the following: cardiomyopathy, which is when the heart becomes large and its compressive capacity is deteriorated and therapy is needed (sometimes even a heart transplant), myopathy, or in other words weak muscles, neutropenia, when there aren’t enough white blood cells being produced in body. The main problems are interconnected with other secondary problems. “We passed the Bart Syndrome test twice. For the first time, we had to wait 3 months for the results. I constantly thought about the test, and convinced myself that the test results would be negative… I reassured myself that the test results would be negative. When we arrived at the hospital, the doctor told me that the analysis did not work out for technical reasons. I felt something break inside of me. We gave it up again. When the result was ready, Rodion and I were already home. The doctor called and said that our results were positive. I tried to hold back tears because the doctor kept talking to me, but it was so hard. I just couldn’t. She told me that it was necessary to live on and to rejoice every moment when Rodion is a little bit better. Rodion is waiting for a very short, complex, and incomplete life. Wikipedia states that life expectancy is approximately 3 years. Of course, early diagnosis, correctly selected therapy, individual response of the body, love and luck increase this term. Recently, I recognized a lot of teenagers, as well as adults, who started their family. There’s nothing impossible. You have to believe in yourself and not put your hands down. In our case, Rodion was saved by a simple accident. In our world, everything happens for a reason.”


    Rodion’s mother tells me about Rodion. She tells me, “Rodion is a very charming child. He loves everyone. The first time I marked it in intensive care was when he was 1 month old. There was some special attitude to him. Rodion loved everything from the head of the department to the nurses and of course wished him recovery. From this moment on, as our journey to hospitals, doctors began meetings with good people who helped us. I really believe that the success we have now achieved was to some extent thanks to Rodion’s charisma. Of course, any mother thinks her child is the best, more beautiful, interesting, cute, smart, and every mother is right. Rodion does have some special charm. His sister, Vera, is also beautiful and fun, but Rodion always leaves a bigger impression of the two of them. Now his love is dinosaurs, cars, and a gun. He is easily ready to share his toy, if it is not listed as the most favorite. In summer, he adores swimming in the sea, playing with sand. At the rehabilitation center, he adores playing improvised bowling, although it prevents us from doing our basic exercises… Rodion loves chips and snacks very much. It is a feature of people with Barth syndrome that at the level of subconscious want to eat sharp, perched, pickled, smoked food… His special and main love is his sister, Vera. Although they are always fighting, they always make up after a short time. In the morning, he wakes up with kisses and affectionately touches her cheek. Vera allows him to ride on her back. Sometimes Vera will feed Rodion”


    “I felt grief and desperation, emptiness and despair. I was crying inside but remained absolutely silent on the outside. I had no idea how I could handle this being alone with the kids. All of this lasted a few days, but then I put myself together, because I knew that crying wasn’t going to help Rodion.” Rodion’s mother realized that she needed to get herself together if she would have any chance of helping and treating Rodion. If she had continued to stay weak, then their little family would not move forward and truly help Rodion. 


    According to Rodion’s mother, Rodion requires constant attention and time due to the following reasons: muscle weakness does not allow him to do most tasks on his own, like eating, getting dressed, climbing and getting down stairs, physical activities and games, running, jumping, and more. His mother needs to be there for him constantly to make sure that he doesn’t get hurt. Rodion can’t eat regular food like everyone else. He requires his food to be milled as an infant. “The blender is my best friend,” she says.


    Rodion has to take 8 different medications for his heart daily. 2 times a week, he’s given an injection to stimulate neutrophil production. “We also give blood 2 times a week to control neutrophils. Also periodic courses of injections and tablets to increase muscle and mental tone. If Rodion has more drugs, it's a symptom. Rodion defends a little in his development from his peers. He does not speak, only a few weeks ago he began to speak his special language. He communicates with gestures, emotions, mimicking, etc. Nevertheless, he is a very fun, interesting, active (to the extent of his capabilities), intelligent boy. So my routine is to care for Rodion and for Vera (my older daughter). Now that she’s grown up, she helps me in some moments with her little brother.”


    When I asked Rodion’s mother about the initiatives taken to raise awareness, she said “I am just learning a lot about our diagnosis. From the moment Rodion was diagnosed until October last year, which is a period of time of 1.5 years, I was in a complete information vacuum. I didn’t know anyone with Bart Syndrome, because this diagnosis is very rare, about 300 people around the world. I didn’t know what was waiting for us. Our doctors could not affect me much. I checked into Instagram, and I found the ground Bart Syndrome France. This wonderful woman named Florence told me about her son and group on Facebook, where people from all over the world communicate with their diagnosis. There I received answers to questions that I could not find myself, many of my guesses were confirmed, and of course I found new friends around the world. Later I recognized another child from Russia with Barth syndrome. We exchanged experiences and it was extremely exciting. I recently started talking about Rodion on Instagram and our three lives. In our country, Russia, people are not very interested in rare diseases. It is not among their interests and try to bypass it. I noticed more interest and benevolence in people from other countries. So for now, I am an aspiring Barth Syndrome advocate. I’m only learning and getting experience from other parents and adults with Barth. Rodion doesn’t know about his diagnosis yet, because he’s only 3 years old, But I think in the soul he feels he’s very special. I’m afraid of the moment he asks me what’s wrong with him. I’d like to learn from other moms what they told their kids what words to pick up.”


    If Rodion could speak, his mother thinks that he would tell the world, “I think he would ask not to be angry and dismissive of children with health features. It is worth looking at these children and it is possible to see that they are fighters! Ordinary children are given a lot by easy efforts or by nature itself. Rodion, for example, requires much more effort and perseverance, strength or spirit to achieve the same or less result. I see with such pride how he stretches to do what the older boy knows or how he tricks and smacks achieves what is unrealistic for him. One day, when Rodion was still very weak, a very good cardiac surgeon told me with a smile: ‘Medicine is powerless if the patient wants to live.’ Every child and person with an incurable, rare diagnosis wants to live and knows how to rejoice in what he, healthy, consider absolutely normal. Don’t be angry or dismissive if someone in front of you can’t quickly climb the steps, perhaps this child doesn’t have the physical strength to do. We often face misunderstanding and ridicule from people around us as to why Rodion can’t be strong and fast, why he can’t eat a regular meal, or still doesn’t speak. I think Rodion would say, ‘Not always the perfect end result is important, but the persistence and desire to act rather than stand still is important. Be indulgent. Thanks and good luck.”


    Rodion’s mother would like to give advice. She tells the world, “Don’t put your hands down no matter what. To be persistent and to believe in your strength. Love your children and infect them with life. The result will shock you to the heart.”


    If you would like to learn more about Barth Syndrome, please check out the links below:








Recent Entries