• Michael Kaline - Erdheim-Chester Disease (ECD)

    Michael Kaline - Erdheim-Chester Disease (ECD)

     

    Meet Michael Kaline, a 45 year old man diagnosed with the rare disease known as Erdheim-Chester Disease or ECD. ECD is basically an ultra rare blood cancer that affects different body organs. Michael’s ECD is mainly in his brain and brain stem although he has involvement outside his kidneys and his heart previously. “Erdheim–Chester disease is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non-Langerhans-cell histiocytosis).” Michael’s disease started originally with Diabetes Insipidus (DI) in 1994. Full blown ECD didn’t start until about 2008. Only about half the ECD patients have DI also.

     

    Michael is 45 years old and lives with his parents again. He says he was lucky enough that they took him back. “After ECD, I moved back to Florida from California. I lived on my own for about 8 months but life with ECD was too difficult to tackle on my own. I am divorced and have no children. My job was with US Customs on the Mexican border. I last worked in 2008.”

     

    Michael was initially diagnosed in 2008, and this disease had a life-expectancy of about 3-5 years. He was scared, but not anymore. He got over his fear of death and lives every day to his best ability. He also feels more comfortable with science now that it has gotten much more advanced and better. He feels safer. 

     

    Michael has since connected with others with the same disease. He says, “There is a group that puts me in touch with knowledgable doctors and other patients. It is the Erdheim-Chester Disease Global Alliance or ECDGA. I have met some others in person At the National Institutes of Health and at annual Patient and Family Gatherings. There is also a FaceBook group.” He has also raised awareness locally. “Basically just helping to spread the word locally. I told my physical therapist about ECD awareness week last year and helped craft a post the Univ. of Miami’s neuroPT Instagram page. I try to spread the word among my doctors and their staff in order to raise awareness.”

     

    Link to Univ. of Miami’s neuroPT Instagram page: https://www.instagram.com/p/B2T-vPegzcy/

     

    Michael tells me about his daily life, “It depends on the day but mostly I spend a majority of my day on the computer. Usually emails, Facebook, paying bills and other easier tasks. I squeeze in workouts but I fatigue quickly after about an hour so then I have to recharge by laying in bed and listening to music or reading. I use a wheelchair so often everyday stuff takes planning. Days that I have therapy (About twice a week) usually revolve around that. I usually go about 11 AM and the rest of the day depends on my energy level after.”

     

    Michael’s advice to patients would be never take advice from Google and always take one day at a time. 

     

     

    “ECD patients are no different than you. Sure there are challenges but life would be dull without them.”

     

    Michael Kaline is such a strong man. I recently uploaded a video of him walking on the website and social media (Instagram: @theraredisorderjournal). I am just so proud of him for accomplishing this! The video can be seen under the ‘Patient Achievements’ tab of the blog. 

     

    Below are some links about ECD, if you’d like to learn more about it:

     

    https://ghr.nlm.nih.gov/condition/erdheim-chester-disease

     

    https://www.histio.org/page.aspx?pid=403#.Xj2Q1S2ZNQI

     

    https://eyewiki.aao.org/Erdheim-Chester_Disease

     

    https://rarediseases.org/rare-diseases/erdheim-chester-disease/

     

    • Anisha Yellamraju


  • Emily - Narcolepsy

    Hi! My name is Emily and this is my story with narcolepsy.

    I am 18 years old and I am in my first year of college. Creditwise I am a sophomore because I took a lot of college classes during high school to get ahead. This way I was also able to graduate high school a year early. My major is Neuroscience and I have plans to go to med school to become a surgeon, and this is not because of Grey’s Anatomy, the show. My dream is to become a drama neurosurgeon. To be honest I do not know exactly where this dream actually came from. All I remember is literally being a child and thinking that I want to become a neurosurgeon. I always dropped the idea because I thought that I would never be smart enough but when I was first diagnosed, I saw a future and I jumped at my chance. 

    Since the day I was born, sleepiness was always an issue. My mother tells me how when I was a baby I was always asleep. She says that I never cried unless it was to wake me up to feed me. 

    Moving to elementary school, my mother got pamphlets, as well as a call from Child Protective Services (CPS), because I was falling asleep in class every day. My mother told them repeatedly that I was going to bed at 7 pm and waking up at 8 am, everyday. It took a lot of time to actually show the school the truth. 

    After that incident it just became normal for me to fall asleep in school. Now the issue was that everybody just assumed that I was lazy or that I didn’t care or that I just wasn’t trying enough, because I was always falling asleep. I remember having a teacher who said that if you fell asleep or even put your arm on your desk, it meant that you did not care. And that’s what really put a toll on my self-esteem and myself because I went through elementary, middle, and part of high school with bad grades, not because I wasn’t trying hard enough, but because I was falling asleep in class and my brain wasn’t letting me focus enough to take a test. My parents tried tutors, online services, switching me from school to school, to see what would work. But they did not work because my brain was just always foggy and always out of it. Then this is what started all of the doctors appointments, trying to figure out what is wrong with me. I had so many doctors appointments trying to figure out what was wrong, but they missed the biggest symptom. All, and I mean ALL the doctors I saw before the age of 15 said that my sleepiness was because of growing. So instead of looking at the sleepiness, we looked at all the other symptoms 

    These are all the doctors I’ve been to I’ve been to a back doctor a pediatrician, a pediatric sleep doctor, psychiatrist pediatric sleep, pulmonologist- a normal pulmonologist- a normal sleep Doctor- part pulmonologist - somebody who works with oh allergies- I did a prick test- a food allergy doctor and a normal family physician obviously, an OB/GYN. And that is not even labeling them all. I am also about to see a neurologist because of the medicines basically screwing with my heads. 

     

    It’s funny because my mom and I have a joke that our bonding time is going to doctors appointments together because we would drive in the car sometimes for an hour sometimes for less than that just to go see some doctors to figure out what’s up. 

    It was not until my sophomore year of high school where my doctor finally gave me a referral to a sleep doctor. What happened was that one day I accidentally slept 16 hours straight and finally that’s when my parents were like, OK something is wrong. That doctor had me do a sleep study, and I was diagnosed with narcolepsy with cataplexy (now known as type one narcolepsy). 

    Cataplexy - when your whole (or partial) body goes limp due to a number of factors. When I was younger I remember directly telling my mother that when I would fall asleep it was like somebody would shut off my body without my permission, now today I know that that is what it’s called a sleeping attack or your cataplexy. However my cataplexy is usually irrelevant. It’s only when I’m extremely tired and having a sleep attack obviously, or whenever I laugh really hard, so I have to be careful when somebody tells a good joke 

    I never wanted to except that I had narcolepsy and it wasn’t until this month where I finally did. I was on this online support group, though FaceTime call, with and the moderator said to share your tip or trick to stay awake. And I was like my tip is something I did throughout high school and this is something I have never told anybody I literally don’t even tell people that’s because I always thought it was so stupid or so weird, it was to always have a whole bottle near me in case I have a sleeping attack. I would just down the entire water bottle. And as silly as it sounds, it kind of works sometimes sometimes. 

    Then this girl was like oh my God I did that to all throughout high school too and that is when it hit me like oh I really do have narcolepsy and from there I started going on Facebook (haha because I actually do use Facebook) and contacting other support groups to share my story, as well as, my concerns. 

    For the first time in my life it feels like I’m finally being heard. And that it feels amazing 

    I’ve spent my whole life basically just saying oh I’m tired I’m tired and then to these last couple of years where now it’s like this medicine works this medicine doesn’t. I’m at the point where I realize that if I don’t find what works for me then I can’t with the future the way that I want to. 

    I still have the sad truth of my future where I do not know if by thirty I will be applying for disability or I will be applying for fellowships, but whichever one it is I know, that no matter what, I want to help others. Whether it is through stories like this or simply being a surgeon. I want to make a difference, and that is NOT A DREAM, that will be reality. 

    Thank you so much for offering to publish my story. I am sorry it is a little all over the place but feel free to let me know if you have any questions!

     


  • Isabel Bueso - Maroteaux-Lamy Syndrome

    Isabel Bueso - Maroteaux-Lamy Syndrome

     

    I had an interview with Isabel Bueso over email the other day and I just wanted to state how much I admire her. I followed her story last year and she is truly one of the bravest women I have interviewed. She is truly a fighter and is a role model for all those with rare diseases and rare disease advocates. 

     

    Isabel Bueso was about to be deported, but that would have put her health at risk. She fought to stay here and she was an advocate for all rare disease patients getting clinical trials who were at the risk of being deported. Her fight against deportation had gained the attention of many, myself included. She was strong to do this and her passion for being a voice for rare disease advocates did not waiver. “The reason I advocate for patients with rare diseases is because everyone has a voice and things will only change by speaking up. I’ll use my own experiences to advocate, encourage change and expose the realities of living with a rare disease to the public,” Isabel Bueso says. 

     

    If you’d like to read more about what she has done, please check out the links provided below:

     

    https://www.washingtonpost.com/opinions/2019/09/13/immigrants-help-us-find-treatments-rare-diseases-we-owe-them-that/

     

    https://www.buzzfeednews.com/article/salvadorhernandez/immigrant-mps-6-treatment-deportation-orders

     

    I was so excited to interview her and it was something that I’ve been wanting to do ever since I heard about who she was and what she was doing. This is her story.

     

    Isabel Bueso is a 24 year old who graduated from California State East Bay and was only a mere 2 years old when she was diagnosed with Maroteaux-Lamy Syndrome or MPSVI. “My diagnostic journey began when I was three weeks old, and my mother took me to the ER because I was having a hard time breathing. I had problems with my health during my first year. After appointments with an orthopedist, geneticist, and endocrinologist, I was diagnosed with Maroteaux-Lamy Syndrome, also known as MPSVI, at the age of 1 1/2-years-old. MPSVI is a rare and progressive condition that affects major organs and systems in my body. MPSVI is a form of mucopolysaccharidosis. As you know, enzymes are proteins that perform specific jobs in our bodies. My body is missing an enzyme called arylsulfatase B, or ASB. ASB breaks down and gets rid of waste in the cells. This waste is called glycosaminoglycans, or GaGs. GaGs in my body can build up in my cells, causing organs or entire body systems to be harmed. MPSVI leads to a number of physical disabilities, including dwarfism, clouded vision, possible blindness, breathing difficulties, hearing impairment, coarsening of face, spinal cord compression, enlarged tongue, organ enlargement, painful bone, and joint abnormalities. I have all of them! To manage my condition, I have to see a cardiologist, pulmonologist, orthopedist, neurologist, ophthalmologist, neurosurgeon, physical therapist, etc. To aid in treating my condition, I receive an enzyme replacement therapy once a week. There are only 1,100 known cases of MPSVI in the world; of these, 200 live in the United States. Despite all challenges with MPSVI, I choose to live my life to the fullest,” she tells me. 

     

    Isabel graduated Summa Cum Laude from California State University East Bay and was Director of the Associated Students for the Concord Campus. She established a scholarship to support students with physical and mental disabilities at CSUEB​.

    Isabel tells me that she enjoys traveling, dancing, watching movies and TV series, shopping, talking on the phone and texting with friends. “San Diego is at the top of my list because I love the beach. I have a passion for dancing. My favorite TV show is Friends. My favorite boyband is CNCO,” she says.

    Growing up, Isabel was living with lots of confusion. She had no idea why she would constantly have to go to the doctor, have surgeries, and hospitalization. Her parents tried their best to explain to her that there was something essential missing from her body, but she didn’t get it until she had grown to be a lot older. As she got older, she gained a better understanding of her disease, but her questions probably didn’t stop there. After that, she gained the heart to raise awareness of rare diseases. Isabel has set up so many events for rare disease day and has even created a scholarship to support students with rare diseases. 

     

    When asked about Isabel’s daily life, she answers with, “I am always trying to find some balance between work, doing projects, going to my weekly treatment, doctors’ appointments, etc. It’s hard to have long term plans because I never know if my body will ask me to stop and take a break. I always try to accomplish short goals. I enjoy life day by day.” 

     

    Every patient I have interviewed so far has told me that having a rare disease is a huge financial burden, and Isabel said the same thing. Growing up, their family struggled to pay for things that Isabel's insurance didn't cover. Isabel’s mother even gave up her dream job (a lawyer) in order to take care of Isabel and tend to her needs. “I’m currently working on applying for a job, but surgery is being scheduled soon. It’s hard for people to understand what I am going through. I am a wheelchair user and have a genetic condition. Sometimes, people look at my disabilities but not at my abilities,” she says. 

     

    “At a younger age, it was easy to be around friends. I used to walk, so it was not a problem to follow them and participate in their activities. I joined the Girls Scouts, Drama Club, etc. I was very active. Sadly, an unexpected bad outcome from surgery left me paralyzed. Some of my friends left me. I guess that they didn’t know how to support me. But I have a small group of friends who stayed with me. We still see each other. When I was in college, I met other friends, and it was easier to be around them because they were more mature. It was hard in middle school and high school, but college was great!” she tells me. It was great to hear that she had close friends she could depend on. Usually when I interview someone with a rare disease, they get bullied or left out of activities just because they’re “different.” 

     

    Isabel Bueso’s advice to the world is, “‘Don’t be afraid to use your voice, because your voice matters’. Also, it is important to surround yourself with the people who care about you. It is important to learn about your condition and what things help you to achieve the things that you want in life. Your disease doesn’t define you. Everyone is unique in their own way.”

     

    Isabel has done many things in order to raise awareness of her disorder. She is a woman with lots of initiative and will stop at nothing to help those in need with rare diseases. She has impacted the United States of America in many ways and continues to do so. “In 2013, I supported a bill introduced by Assemblymember Marc Levine to establish February 28t​ h​ as Rare Disease Day in California. I also testified in support of a bill to create the Rare Disease Advisory Council in California. For the last six years, I have raised awareness about MPSVI and other rare diseases at my High School, University, hospital and the Capitol in Sacramento. I now work as an advocate for people with rare diseases and have visited the California State Capitol in Sacramento and the U.S. Capitol in Washington DC for several years in that capacity.”

     

    Isabel tells the parents  “that every child is unique. Never compare your child with another one. Always remember that the expectations they might have are their expectations, not their child’s expectations. They need to learn about their children’s condition because they will become the best advocates for them.”

     


  • Zach - Eosinophilic Colitis and Congenital Sucrose Isomaltase Deficiency

    Zach - Eosinophilic Colitis and Congenital Sucrose Isomaltase Deficiency

     

    Zach was born full term on 26/02/19 weighing 7 pounds and 1 oz. All of Zach’s check ups were normal and they were discharged 2 days after birth. However, 10 days after Zach was born, he had developed severe diarrhea and reflux problems. He was seen many times by GP’s, health visitors, and hospital pediatricians. They were all unsure of what his problem was but they changed his milk to amino acid milk protein allergy. However, that did not help and Zach continued to have severe diarrhea and vomiting and he fell off his centile chart. In May of 2019, Zach was admitted to the hospital. He has had central lines, picc lines, was fed by TPN, a large amount of blood tests and camera tests. He worked closely with dieticians, OT, and consultants. He even spent a few days in PICY as he had caught rotavirus and went into metabolic acidosis. From a biopsy of his bowel, they were finally given the diagnosis of the rare disease, Eosinophilic Colitis, meaning he had white cells in his intestines. Zach, according to his mother, has also been diagnosed with Congenital Sucrose Isomaltase Deficiency, meaning he cannot have sucrose or carbohydrates. He is being treated with invertase medication and a very special diet. He is back up on the 25th centile, where he was born and is currently doing very well. 

     

    Zach is a happy baby, his mother says. “Despite everything he has been through, he always has a smile on his wee face! He likes listening to his baby music and attends baby sensory classes every week, which he loves! He dislikes sitting in his chair being set down! Zach just loves cuddles and being carried around looking around him. He loves people and attention!”

     

    Zach’s mother, Lauren Alexander, informed me that after 2 months of being admitted, there was no clear diagnosis and they were accused of intentionally making Zach sick. Consultants brought up social workers and their family had to be interviewed. They had 24 hour supervision for 4 days, which was finally lifted after a meeting. It was then that Zach’s bowel biopsy was taken. 2 months later, the biopsy results came back with both of the diagnosis. “We were relieved that after nearly 5 months we knew what was wrong with our baby and we could now work on getting him better. After a lot of research, the next morning, we were happy to be going home and be able to start making Zach meals he could eat with his medication. At the same time we were both extremely annoyed with the hospital as they had jumped ahead before tests completed and accused us of making him sick. We are extremely grateful we have been able to work with Zach at home and have got him to a very stable point where he is thriving with both conditions.” When I asked about their family getting accused, Lauren stated, “At this point no tests had been done on Zach apart from blood tests and his blood was normal apart from dehydration. So the consultant had said there was ‘no medical reason for Zach being sick, so someone or something must be doing so.’ That then led to an investigation of us. Zach was then taken for a biopsy and it showed both results- eosinophilic colitis and congenital sucrose isomaltase deficiency.”

     

    Zach’s daily life consists of maintaining a certain diet and medication. His mother says that Zach has a range of medication he takes throughout the day, but the most important is invertase before a meal. “This is his enzyme. Zach’s food all has to be prepared by us at home to make sure it is a sucrose free low carb diet. This mainly consists of meals, 5 different vegetables and strawberries. We are continually looking for different food options to try with Zach and coming up with new recipes. We have to check food labels to ensure everything is dairy free, sugar free, and very low in carbohydrate.” Zach has a health visitor that they like to check in with every month. The health visitor checks his weight and his GP and would only see him if they had a query. “He is seen by his consultant in the hospital every couple of months now as he is improving so well along with a dietician.”

     

    For the first couple of months before Zach was diagnosed, they were out of money. A lot of the money went towards nappies. Zach had about 30-40 nappies a day. On top of this, being in the hospital for over 4 months caused a substantial financial burden for Zach’s parents. “We had to travel 30 minutes there and back for washing, etc. And to pay for the car park at the hospital which was 5 euros per day. We also had to travel to Newcastle from Northern Ireland. The trust paid for flights and accommodation, but we were out more money over there for a few days. This was to see a different gastro consultant as our own consultant wanted a second opinion. Now Zach has improved and his nappies have reduced. We are able to get a few days out of a pack instead of 1 a day. I can also buy all Zach’s fresh food for around 100 euros a month. This gives him enough dinners and snacks that he can eat daily and I prepare them all myself so I know that they have no sucrose and low carbs.”

     

    Zach’s parents have done much to raise awareness of his disorder, but it’s because all of this is still a learning curve, not only for them, but also doctors, health visitors, and relatives. However, they have communicated with CSID parents and patients using Facebook. There is a group on Facebook for this disorder. Lauren began speaking to 2 other mothers who have had a similar experience with their own children. “The group is brilliant with everyone sharing meal ideas and different problems. We have found some ideas for food that we can buy off Amazon for Zach to try.” When I asked Lauren about her use of Instagram to communicate with other patients, she replied with, “I haven’t been able to connect to any other CSID patients on Instagram. I have found pages like my gut health, which cover a range of issues, but personally it has been Facebook for our condition.” 

     

    Zach’s entire family has been very supportive of his parents. They came to visit Zach at the hospital and even gave Lauren a break when Zach was in PICU. “At home, my mum keeps him every other week for a night and would come down and help in the house too.”

     

    Lauren told me that if Zach could tell the world anything, she thinks he would want to tell everyone that he and anyone else who has a rare disorder to remember that they are no different than anyone else. And for anyone that is starting the process or just recently diagnosed, just to keep going. As Zach has shown, you can thrive with treatment. You just have to keep going and being strong. Every rare disease carrier is a real superhero. 

     

    Lauren would like to tell other parents, “Trust your instincts. You know your child best and do not give up. Seek different opinions until you are listened to properly. Be strong and keep fighting strong. You are your child’s advocate! And just remember, your child is a real warrior.”

     

    The last thing Lauren wants to say is that it does get easier. And I’m sure it does. Other parents have also told me that they never would have thought that it gets easier, but it does. You shouldn’t give up. That is such cheesy advice, but it can’t be more true. 

     

    If you’d like to read more about Zach’s diseases, please check out the links below:

     

    https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3165205/

     


  • People with disabilities are NOT stupid.

    People with disabilities are NOT stupid.

     

    Recently, a teacher was talking to class regarding grades. He said something like, “A student with autism who is not the brightest and has bad grades in classes gets better grades in this class than the smart students, because they put in effort and actually study.” I’m saying this because he associated someone with autism, a disability, to stupidity and seemingly unwise. The fact that people associate stupidity and foolishness with someone with a disability or disabilities is actually extremely offensive and unnecessarily rude. Although someone has a disability, it should not reflect on whether or not they’re smart or not. It is rude, altogether, to call someone “dumb”. Some people may be better at something else or another subject than you, and the fact that being smart is limited to being good at school and getting good grades is actually stupid. I’m sure you’ve seen the quote, “Don’t judge a goldfish by its ability to climb a tree.”

     

    A disability does not make you stupid. In fact, it makes you brave, courageous, and most definitely worth it. People with disabilities are still people, so why treat them as if they were lesser? A disability doesn’t hinder anyone. People who have the mindset that disabilities only lead to the growth of unable people are stupid themselves. A disability doesn’t make you unable, in fact, it grows you to become strong and able.

     

    Someone growing with a disability has to go through so much more than one without. They have to face society as a “burden” and grow up feeling that they’re useless, all because we have people in this world that call people with disabilities “stupid.” This doesn’t go out for only rare diseases, but for all disorders and disabilities. 

     

    This is a short post, but I think it’s something we need to bring up and talk about more often. Disabled people are NOT a burden on society, they are a blessing.

     



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