• Landyn - Vacterl

    Landyn - Vacterl

     

    Meet Landyn! He will be turning 8 in October and is currently in 2nd grade. His mother tells me that Landyn has a huge, hilarious personality. His mother also tells me that Landyn absolutely loves learning and he loves school. 

     

    Landyn was born with a rare disorder called vacterl. She tells me that only 10% of the world have this disorder, meaning that’s only about 600 million people. Although that may seem like a large amount to you, it’s easily nothing compared to 7 billion people. Vacterl is a disorder that affects every part of the body. On top of having vacterl, he has two other disorders. Landyn has something wrong with his brain, right arm and hand, back, stomach, bladder, kidneys, heart, lungs, one of his ears, his hips, legs, private areas, and his bottom. He has had to go through 43 different surgeries, and is about to go through his 44th! That’s a crazy amount of surgeries and it’s even more heartbreaking to know that he’s only 7 years old and has to go through so much. Landyn is such a strong boy and I know he has the courage to go through so much more. Landyn’s mother tells me that he has passed away 60 times on the operating table, in her arms, and at home. Landyn also deals with severe asthma. The doctors tell the mother that Landyn has until he’s 13 before he passes away and that kids don’t usually survive long after that age. The mother tells me, “He is extremely rare and there is not one kid like him in this whole world. He is kind, funny, sweet, caring, loving, and overall amazing… He has the kindest soul in the world.” I was absolutely heartbroken to hear about this boy and everything he has gone through. Can you imagine having your child pass away 60 times? That’s extremely devastating and I pray that Landyn gets better and I also pray that no other mother has to face this. I don’t think I could ever be strong enough to through what Landyn has gone through. The fact is, Landyn is a brave young man and he’s stronger than we will ever be. He has extremely strong will and I know, and his mother knows that he will never give up and he will keep on fighting. He has some brain damage, but Landyn’s mother has no idea to what extent. Landyn’s heart is tilted, has 4 holes, some things in his body are too large and some things in his body are just too small. “I just found out that the right side of his heart was not getting blood or oxygen and is deflating so we are discussing another open heart. He was born with 2 lungs but during an emergency open heart when he was younger that had to put a stint in and it was too large so it cuts off blood flow to one lung so now he has just one that’s covered in severe asthma. He is missing a bone and a thumb in his right arm so it’s ⅔ shorter than his left and his hand is turned and only has 4 fingers. He was born with no butthole so they had to build one but he doesn’t have the muscles to control it so he has a button in his stomach that I have to hook him up to flush him out… His left kidney has cysts all over it so it’s dissolving in his body.” 

     

    When the mother was pregnant with Landyn, she didn’t know anything that was wrong with him. She knew that one of his kidneys were bad and his heart had a couple of holes. “2 days before I went in to have him, I found out about his arm. After he was born, I was only allowed to hold him for 30 seconds and then he died and they took him. That’s when I slowly started finding out more and more wrong and to this day I am still finding out more. My first reaction when I saw him especially his arm and hand was ‘wow, he’s so beautiful but that’s so different like it before.’ I was 19 when I had him. But he was so beautiful. The more I found out the more scared I got because I knew my chances of growing old with him were slim to none. I knew that I had to be strong for myself for him.”

     

    The mother told me that was hard and some days are worse than others. She treats everyday like it’s his last. She says, “It’s extremely lonely because he’s so so rare that it’s not like I have other moms to talk to and relate to. It’s just me. It’s terrifying. And it’s exhausting, stressful, emotional, draining. I do everything by myself. It’s just me and it gets overwhelming it’s hard to control my emotions and do what needs to be done without breaking down. My initial reaction to Landyn was he needs me it’s time for me to grow up fast and do what I need to do be the mom he deserves and needs. I got chosen to be his mom for a reason and he needs me. It’s definitely a very hard job. But so worth it. The hardest part was sitting in the NICU next to his bed for 97 days and not being able to hold him but only be able to touch his toes. Everytime they attempted to let me hold him he would pass away. It’s been a very long journey.”

     

    Landyn’s mother tells me about how he gets bullied at school. Every year, it’s the same. She told me that the year before, he got bullied from a kid that called him flipper boy and made dolphin noises because of his arm disability. Landyn’s mother has talked to the counselors and administrators at the school, but they have not been taking action and she told me that they take forever to do anything about the problem. They won’t even let the mother talk to the kids. She can’t put Landyn in private school, because she doesn’t have the money and Landyn cannot be homeschooled because they said with his depression and personality, he won’t be able to survive homeschooling. However, his mother informed me that she would soon get a job at the school and be closer to her son.

     

    She has been struggling financially and her being a single mom does not help. She tells me that it’s hard for her to keep jobs because Landyn constantly needs surgeries and to see a specialist. She’s always in and out of jobs. I suggested she get aid from organizations that help with funds, but unfortunately, there are none in her town. 

     

    When I asked her what advice she would give to families that may have children with this disorder, she said, “I would tell them that it’s okay to cry, scream, feel defeating, feel alone, and always question why. Give yourself one day to break down a week. Once that day is over, pick yourself up and become the strong fighter that you are. No one will ever truly understand what you are going through. It’s very difficult to stay strong and not become bitter but always try to find something that makes you smile and laugh daily and always try to stay positive. Even though what we are going through as parents to a child with a disorder, there is always someone out there dealing with much worse. Spend everyday with your child like it’s your last and always be thankful for the memories that you get with them. It’s not easy but it’s so worth it. Your child looks up to you for strength and you are the reason they are still here and fighting but that does not mean that you are not allowed to break down. It’s how you pick yourself up, that matters. Stay strong and keep fighting. You are a true inspiration.” Honestly, that is such a beautiful piece of advice. I think it should apply to all families. That no matter what, never, ever give up on your child. Your child will depend on you to be strong for them. If they see you not giving up, they will fight to not give up as well. Landyn has been through so much and it’s amazing to see such a supportive and loving mother like her. Not a lot of people would want to deal with what she is going through and it’s honestly so inspiring, what she’s doing. Not everyone can stay strong, like she is, when going through something like this. I absolutely loved interviewing her and it made me believe that anyone can be strong in hard situations.

     

    Landyn would like to tell the world, “Everyone is different. Some of them, you can see the difference and for others you really can’t or won’t be able to, but we really are all unique, so please stop judging others. Don’t judge a child just by the way they look.” 

     

    Landyn’s mother has made a Facebook page for Landyn to have fans, to follow him and his journey. His Facebook page is “Landyn is Our Hero.” Please follow to see updates on Landyn. His Instagram page is @landynb27.

     

    If you’d like to learn more about vacterl, check out the links below:

     

    https://ghr.nlm.nih.gov/condition/vacterl-association

     

    https://rarediseases.info.nih.gov/diseases/5443/vacterl-association

     

    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-56

     

    Thank you for reading this blog post. Make sure to subscribe to the page if you’d like to get email updates! Also, I recently put up a donations page and all the money TRD Journal gets will be donated to rare disorder families. You can help make a difference. 

     

    - Anisha Yellamraju

     


  • Dimas Daniel Torres - Campomelic Dysplasia (CD)

    Dimas Daniel Torres - Campomelic Dysplasia (CD)

     

    “My parents had already suffered multiple miscarriages when Mommy was about to give up after the last loss on January 14, 2018. Then, something miraculous happened; I was pregnancy number 5, born on January 14, 2019… and boy, do I have a story to tell!

     

     I’m Dimas Daniel Torres (DDT for short). I was born in the space city of Houston, Texas on a cold day, from what I remember Mommy saying. But before I get to the details of my birth, let me start from the very beginning. During my development inside Mommy, many things started to happen. My parents were excited about me coming, but even the first trimester came with complications: my Mommy got assaulted by a squatter. After the situation was taken care of (where the bad man didn’t scare her anymore), Mommy and Daddy returned to their excitement about meeting me. Even so, the previous loses they had suffered forced them to keep things a secret until receiving some unfortunate news. At 13 weeks, the doctors explained that I had trouble growing; that my arms and legs were not developing the way they were supposed to. Due to the many complications, my parents were told to terminate the pregnancy and that they wouldn’t be able to give me a good quality of life. In spite of the discouraging news, my parents rejected the termination and made the decision to continue with the pregnancy. Every week after that, they had to get me measured to see how I was growing and found that I was still behind in development with my limbs and my chest. My Mommy cried a lot because every doctors visit came with a new diagnosis and the same reminder that it was lethal. The final diagnosis was scary: you see, I was diagnosed with Campomelic Dysplasia, or “CD”, with skeletal dysplasia. In other words, I am a little person (the skeletal part) with bent bones and clubbed feet (the Campomelic part). Based on my parents’ research and what the doctors told them, only 1 pregnancy out of 50 to 400 thousand end up in my situation- and only 5% of us survive, because of our critical airways. I realize that this is true: I was born with laryngo tracheobronchomalacia and well, that explains the critical airways and how I could stop breathing at any point. All I know is that this is not contagious; it’s actually caused by a mutant gene called the “sox9” gene. Now, I don’t know too much about genetics, but all I know is that if I have a mutant gene, that must mean I’m an X-men! How cool is that?

     

     Fast forward to my big homecoming where Mommy is 33 weeks and the doctors decided it was time. Here I go! Though I was born early, I finally made my big entrance to the world... This is were my adventure begins…

     

       I was born Monday, January 14, 2019 at 9:15 PM (and Mommy keeps reminding me it was cold that day). When I was removed from Mommy, she didn’t get to hold me; instead, the nurses took me right away on instructions from doctors that said that once I was born, I was not going to be alive for too long- or that they couldn’t guarantee me even 24 hours. According to some doctors, I was just going to take a breath and maybe cry, but my underdeveloped lungs would eventually give out on me. Well, jokes on them -right?- because here I am today! The many unfortunate scenarios that served to warn my parents scared my mom so bad that she didn’t tell anyone about me and kept to herself out of fear. Mommy was told that I would be mute, deaf, and immobile, or that I wouldn’t even be able to move my hands, because well, let me be honest, I liked it so much inside Mommy that I was always laying stretched out and I didn’t even bother moving when I was around the doctors. Oh, but Daddy took us to see the Queen movie (Bohemian Rhapsody) and I wouldn’t stop moving because I loved the music so much! After that, my parents started playing all sorts of good tunes for me and that’s where I began building my love of music!

     

    After birth, I was put on oxygen for two days and went straight to the NICU. After the two days, I was breathing on my own and doing just fine until the malacia kicked in and made my airway floppy to the point where my oxygen levels would drop so low that it would get pretty intense. I would eventually get CPR to get back to my normal self and that was exhausting. Despite my constant battle with oxygen levels, I turned one full month in the NICU and would sometimes breathe on my own  (the low sats would happen only when I would get mad which is when I would poop...not funny... I just don’t like pooping)! The doctors kept having meetings with my parents where they would say that I was doing so well, but to keep in mind that I was still going to die... Soon, I turned 2 months and had a cookie party with my NICU mammas and NICU girlfriends! On March 20, the doctor told my Mommy about my trouble with maintaining stable stats and said that since there was not a lot of things they could do for me, they can go ahead and plan to take me home to pass away there. Mommy was quick to respond and say, “Great, give me my baby. I’ll take care of that when it happens.” Soooo, on March 23, I say goodbye to all my NICU family and by then, I had spent almost 70 days in the NICU and I was ready to come home.

     

       Well, I finally come home, get settled and life is good for the most part even though the low stat scares are still happening. We soon began having issues with the nursing because some wouldn’t even bother showing up to help, or the ones that would come would complain about a lot of things. In this case, one nurse complained about my doggy, Molly, who lives outside. Molly is a good girl, you see. Remember when I told you Mommy got assaulted? Well, it happened right outside the house in the drive way and Molly was the one who ran up to the bad man to scare him away. This means Mommy will never get rid of Molly, our protector. Even though we don’t get visits from the mailman anymore, it doesn’t matter to my parents. See, these nurses complain and even yell at my Mommy because there is a dog on the property. I think that’s unfair. I remember there was also a nurse who told my Mommy she should try something called “IVF” so she could have the “perfect baby” as if I wasn’t good enough. Then, I remember I also suffered neglect from one of my nurses too. The whole scenario with the problematic nursing has put so much strain on my parents now; I know that they don’t get much sleep and  that my Daddy can’t even go to work as often as he wants to. I’ve had many episodes and most of the time, they occur when my parents are alone with no help.

     

        In fact, there was a situation where I dropped my stats so low and I stopped breathing, yet the nurse on duty didn’t do anything to help me! My Mommy was the one who found me like this. The company even had a DNR on me when I’m actually full code. My parents say all the time that I am a blessing and that they will not have that taken away just because someone doesn’t want to bother with me. I love them a lot. 

     

      Well, let’s fast forward to now: I am actually going on 7 months!!! I am a big boy and I can smile AND I can talk to you too! You might call it babbling, but I call it talking, because I can have full blown conversations with you like a big boy. I am also very observant and am amazed at all of my surroundings; my Mommy put lights on my ceiling and I love them so much. There’s just something about them that makes me so mesmerized. Oh, and I love my music too! My music combined with my lights make me feel like I have a full blown party going on in my room or where ever I go too (I have mobile ones inside the car and even for when I go somewhere and have to stay over night).

     

       A few weeks ago, I had surgery on my head and now I have cranosinostosis which means that my skull has fused the bone and doesn’t let my brain grow because there isn’t enough room for it. The procedure I had was to help make room for my brain to grow and that’s why I have these little antennas sticking out of my head! Remember I told you I was a part of the x-men? Well, I guess I’m kind of like Wolverine since I have metal sticking out of my head and not my arms. I’ve been in and out of the hospital even after the surgery because I caught a cold. Having critical airways means that even a regular cold can cause my death, but I am not afraid because all this time, my Mommy and Daddy don’t ever leave my side. They were told I’m fragile, and yes, I might be, but I am proving these doctors wrong time and time again! I might fall, but I bounce right back. I keep hearing them say that it’s my world and they just live in it, but the truth is that I have so much more to see and discover and I want to see it all one day. And like one of my favorite songs by Queen says: I want to break free! I want to break free from all these wires and that’s my goal. I will show these doctors that I CAN and that I WILL. Hey, after all, they told my parents that I wouldn’t be able to eat anything by mouth too- and well, I take a bottle and I eat my food and I love it! They also said that I wouldn’t be able to breath without my machine, but I go swimming and I float around and I love it. You see, I’ve tasted the world and I want some more. I want to see things and explore! I trust that I will soon accomplish my goals; I just have to get better, because there is a whole new world out there and I am SO ready for it!!!”

     


  • Maddilyn - Anti-NMDA Receptor Encephalitis

    Maddilyn - Anti-NMDA Receptor Encephalitis

     

    Meet Maddilyn, or as she prefers, Maddi. Maddi is currently 8 years old and her 9th birthday is coming in October. She will be a third grader in a couple of weeks. Her mother described her as the best kid ever and that she’s extremely funny, smart, loving, helpful, and super creative. Maddi is a dancer and has been dancing ever since she was 3 years old! That’s amazing! Maddi has the disorder Anti-NMDA Receptor Encephalitis and is an antibody specific type of Autoimmune Encephalitis. With NMDARE, the body’s own immune system creates rogue antibodies that attack the NMDA receptors in the brain. The NMDA receptors are responsible for helping electrical charges across the brain synapses, so when they are disrupted, the person experiences psychological and behavioral changes, autonomic instability, and seizures. NMDA has a high occurrence in females due to the comorbidity of an ovarian teratoma. In Maddi’s case, no teratoma was found, therefore her disease cause is unknown.

     

    Due to this disorder, Maddi has experienced complete changes in personality. She had woken up and started cycling between acting aggressive and irritable. She would sometimes be crying and be anxious. Sometimes she would stop sleeping and eating all together. Eventually, she stopped talking or only spoke in broken words and thoughts. The treatment managed to reduce the aggressive behavior. Some of the symptoms even went away completely. The treatment managed to stop her seizures and she was able to start eating normally again. Maddi’s aggression and irritability and aggression also slowly got better. 

     

    Her mother told me that for the last 16 months, Maddi has been in remission and has immensely improved over time. She said, “As a result of the disease, she suffers from ADHD, anxiety, and insomnia. As a result of treatment, she suffers from hypogammaglobulinemia, meaning she is unable to create her own plasma cells. She has suffered from adrenal insufficiency and osteonecrosis in her foot.” 

     

    When asked about the mother’s initial reaction to finding out her daughter had this disorder, the mother had a response that was quite different from the other parents I had interviewed before. She told me was relieved that she found out her daughter had this disorder. Not relieved, because she wanted her daughter to be born with this disorder, but because they had finally figured out what was the cause of her behavioral changes. Not knowing something causes so much confusion and anxiety, and it’s understandable as to why the mother felt this way. Doctors had been telling the mother for nearly a month that nothing was wrong with her, but she knew that the doctors were so wrong. “It was a relief to finally have answers, but that was temporary. The relief I had soon turned to fear because we didn’t know what the future held.” Her reaction was completely understandable. The fact that the doctors didn’t know what disorder she had, tells us that we need to be working on raising more awareness for diseases and disorders like this one. Another child in another hospital could be suffering from the same exact disorder but not be receiving the help and treatment they need because the doctors have no idea what the child is suffering from.

     

    I had asked the mother about her daily life with Maddi and she responded with, “Daily life right now is very easy compared to 18 months ago. We have been homeschooling for the last 4 years, so at the beginning, schooling was very difficult, because Maddi could not focus, got easily fatigued, or had trouble with her short term memory. As she recovered, she has had less issues with school work. We still battle with irritability day to day but not nearly as bad as it was at the beginning. She does get very dysregulated very easily, especially when it’s related to sensory input. Overall, she is more anxious than anything, but medication and therapy has helped her keep it under control.” I was glad to hear that Maddi was progressively getting better after treatment, taking meds, and therapy. 

     

    Financial costs, however, have not gone down for the family. They continue to stay the same. The mother told me, “We meet our OOP for the year very quickly due to IVIG every 4 weeks, which is about 12k per dose. The copays and medications add up quickly.” Many families suffer financially due to their children having such rare disorders. Such diseases require lots of medications and help, but raising awareness can help these families get the help and money they require. I plan on collecting donations in the near future when my blog’s reader and follower base increases to give to families that are in need. Maddi’s family and friends have been extremely supportive of her. She has had lots of family members and friends step up to help provide care for Maddie or her brother. The mother, Tricia Rispoli, is a therapist and so her job is very flexible and she says she is blessed to be able to work around her care, however, the financial burden, she says, can be really stressful for families and with your help and support to raise awareness we can get families like that the help they need. 

     

    When asked about their social life, Tricia said, “For a long time I was afraid to do anything or leave the house with Maddi because she was unpredictable. It was hard to keep up with relationships, especially when we were back and forth at the doctors. It has improved with time and we have a great group of friends.

     

    Tricia has taken huge steps in order to raise awareness of her daughter’s disorder. She has started a blog and started writing about everything, from treatments, diagnosis, and their everyday life. She has also reached out to bigger organizations such as The Encephalitis Society to find out how she could elevate this disease. She became very active in raising awareness for this disease and learning more about it and began connecting with other parents all over the world. She even began joining online support groups. With her blog, 4 other children were able to get treatment from her doctors. That’s honestly a huge thing! Four kids were able to pursue living a better life, because she decided to step forward and raise awareness. It’s amazing to see women like her taking action to make this world a better place. Even if it seems like such a small deed, it impacted the lives of four different families and helped them to live a happier life and maybe they’ll even do the same thing for others.

     

    I asked Tricia what Maddi would like to tell the world and she told me, “We should all love each other.” The mother responded with laughter and asked her what she would tell the world about her disease and the things she has been through. Maddi responded, “I’d want them to know that I’ve been through a lot of things, and that my scars mean that I’m brave. Sometimes I get scared when they have to access my port.” Maddi is such a courageous young woman who has gone through so much, but has managed to stay strong throughout everything. She’s definitely a fighter! She wants to grow up to become a nurse/hairdresser/ballet teacher. I loved that response from her!

     

    Tricia would like to tell you all to hang in there. “Never give up and never take no for an answer. Keep questioning and pushing doctors. Listen to your gut.”

     

    “The hardest part about this whole disease was accepting that our life completely changed. We had to grieve the life we knew, and learn how to live life differently. I would not do anything different. I’m thankful that this experience really showed how valuable life is, and how we can’t take anything for granted. We celebrate every milestone as if it’s the last and are thankful for every single extra day we get to be Maddi’s parents.” Tricia is absolutely sweet and an amazing mother. She is truly the epitome of what a mother should be like; to love and care for their children. 

     

    Help raise awareness for more families like this! Subscribe to the blog and follow the Instagram for updates!

     


  • Paisley-Jade - Acute Necrotizing Encephalopathy (ANE)

    Paisley-Jade - Acute Necrotizing Encephalopathy (ANE)

     

    Meet Paisley-Jade. She is currently 17 months old and is medically diagnosed with Acute Necrotizing Encephalopathy (ANE). Paisley-Jade was born at 36 weeks after a rough pregnancy and was healthy until she reached the age of 6 months. At the age of 6 months, she got a throat infection with flu type symptoms. The GP gave her antibiotics but it didn’t seem to help, because 4 hours later, Paisley started making strange noises and random movements. Within half an hour later, she was in a coma. She is no longer in a coma, but she still can not crawl or walk and is delayed developmentally. According to rarediseases.info.nih.gov, acute necrotizing encephalopathy is, “A rare disease characterized by brain damage (encephalopathy) that usually follows an acute febrile disease, mostly viral infections. The disease is caused by both environmental factors and genetic factors. Usually, ANE develops secondary to viral infections, among which influenza A, influenza B, and the human herpesvirus 6, are the most common.” 

     

    When Nikki Bellerby, Paisley-Jade’s mother, found out her daughter had this disease, she was heartbroken and extremely confused, like most families are when they found out their child has a rare disorder. Nikki had never heard of the disease and had the initial shock that this all happened from what they thought was a small virus. She also stated that their world fell apart and they didn’t think life would ever be the same again. This reaction is honestly completely justified. She’s not a bad mother for being heartbroken, as most might think her reaction of being upset is related to her not loving her child anymore, but that is so incredibly wrong. She loves her child more than ever and has promised to stay beside her and never give up. Having a child with a rare disorder is honestly one of the hardest things about being a mother. Having to deal with ridicule and others saying that their child is not like others and facing so much discrimination takes so much courageous and especially in a scary situation as when Paisley-Jade fell into a coma at only 6 months!

     

    Nikki explained to me that most parents do not know when their child has ANE. It’s an extremely nasty disease and the child is usually in a coma (most times) before it’s discovered and the damage is done by then. The mother had discovered that her child had this disorder on September 4th, 2018 when Paisley was already in a coma with extensive damage already done. This situation honestly seems to scary. Imagine your daughter having a simple flu and you think that she’ll get over it soon, but the flu results in your daughter ending up in a coma. That’s frightening.

     

    When asked about the daughter and the mother’s daily life, Nikki responded with, “Paisley wakes up at around 7 AM and is given her meds and breakfast. We get ready and take Paisley’s sister to school and head back home. We then do an hour of physio and Paisley takes a 2 to 3 hour nap, as she tires easily. We then have lunch, meds once again, do more physio, and play therapy. We then collect the girls from their school and have tea. Paisley’s bath is at 5:30 and the girls head to bed at 6 PM.” Luckily, the husband works and supports the family while Nikki stays at home and takes care of Paisley. The other families I’ve interviewed previously have stated that they had to quit their jobs and taking care of their child was a full time job. Those families had to accept donations from others and there’s nothing wrong with that. It’s loving to give to a family and to help them. However, Nikki is extremely lucky to have a husband who works and can cover the expenses of the family. 

     

    I asked Nikki about what Paisley likes and dislikes. She tells me that Paisley enjoys playing with her 6 other siblings and she very much enjoys eating food, mostly all kinds of foods. However, she hates being on all fours or being made to stand, because she has dystonia and feels off balance constantly. She enjoys sitting a lot as she is unable to crawl or walk yet. 

     

    I asked what Nikki has done so far in order to raise awareness and she tells me that she usually relies on Facebook, family and friends, and twitter to spread the word about ANE. Social media is a great way to connect with others who are going through the same thing as you are. She is also part of an ANE group on Facebook, where I actually got in contact with her. She even has this cute sign that they put up on her buggy that lets others know that she has a rare disorder.

     

    Nikki thinks that her child would want to tell others to get some research done on ANE and have professionals train doctors so that they know exactly what it is and find a cure. She does not want other families to go through what she had to go through. She really wants to work on spreading the word as ANE is nasty and can cause extreme damage.

     

    To others who may have children with this disease in the future, Nikki wants to advise you to never give up and to be prepared for a tough and slow, never-ending journey.

     

    “Approximately one-third of individuals with acute necrotizing encephalopathy type 1 do not survive their illness and subsequent neurological decline. Of those who do survive, about half have permanent brain damage due to tissue necrosis, resulting in impairments in walking, speech, and other basic functions. Over time, many of these skills may be regained, but the loss of brain tissue is permanent. Other individuals who survive their illness appear to recover completely.” - ghr.nlm.nih.gov

     

    Please help spread the word about ANE and get more doctors to research. By doing so, we can prevent so many deaths and losses.

     

    If you would like to know more about ANE, please visit the following websites:

     

    https://ghr.nlm.nih.gov/condition/acute-necrotizing-encephalopathy-type-1

     

    https://aneinternational.org/acute-necrotizing-encephalopathy/

     

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943037/

     

    https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263524

     

    Thank you for reading.

     

    Please check out our Instagram (@theraredisorderjournal) and follow us on our journey to raise awareness!

     

    • Anisha Yellamraju


  • Riplee – Cardiofaciocutaneous Syndrome (cfc)

    Riplee – Cardiofaciocutaneous Syndrome (cfc)

     

    Riplee is currently three years old and has Cardiofaciocutaneous Syndrome or for short, CFC syndrome. CFC is a disorder that affects many parts of the body, particularly the heart, facial features, and the skin and hair. People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. There are only three hundred known cases around the world. This syndrome entails a big head, her inside is different, heart issues, lung issues, bone issues, joint pain, hydrocephalus, and spontaneous mutations. Riplee also had to overcome a heart murmur and she used to have lots of trouble eating. 

     

    When asked about her initial reaction to when she found out that Riplee had this disorder, she said, “I was scared, if you want me to be completely raw honest. At first, I didn’t know her and I didnt know her personality. I went through the whole denial stage. I spent a lot of time worrying about her and what her future was going to be. Since it was such a rare syndrome, we couldn’t predict her future. I overthought everything. I went through each stage as she grew up step by step. It helped me to stop worrying too much about her future as I got to know more about her.” I completely understand her fear. Knowing your child has to deal with an extremely rare disorder for the rest of his or her life is scary. I don’t think I would ever be strong enough to fight through such a thing and it’s amazing to see moms like Heather (Riplee’s mom) power through this. 

     

    Riplee isn’t the only child Heather has. Riplee is a fraternal twin and has two older siblings; a 15 year old daughter and a 17 year old son. Her children have stepped up and have helped so much ever since Riplee joined the family. She said, “My children now all step up now without complaints and help out with her.” Her entire family has been loving and has offered to help at any chance they can get. Their relatives always are extremely inclusive of Riplee and always work to make her feel part of the family. Riplee’s family acts as a model of what supportive families should be.

     

    Riplee’s mom got very emotional in the middle of the interview. She told me that it was hard. She said, “I can’t even think about her without getting emotional. In the beginning, when she was first diagnosed, I had a lot of “why me” and I felt sorry for myself and I felt sorry for her. After a while, I can’t even imagine a life without her. When you have a kid like this, you have a different perspective on anything. Things that may seem like a big deal don’t really seem like a big deal. My daughter is so happy no matter everything she goes through, like surgery and therapy. She has a sense of humor. Riplee has a quality of life. She loves others and has a way of communicating. She is just so fun with her. My children now all step up now without complaints and help out with her. She has really changed for the better. She has overcome so many things. She is not at the same level of her twin, but all her accomplishments are celebrated.” It’s so very obvious that she is a mother that loves and appreciates her children. It made me emotional to know that there are children out there who receive such love and care from their parents, despite being disabled. It really makes me have hope for the world and the people in it.

     

    Riplee has improved a lot throughout the years. The mom was overwhelmed. She was on oxygen and had a heart monitor, she had a G2 placed (she was fed through stomach with G2). That required mixing special formula, adding calories, keeping track of calories, etc. The mom also had to make sure she was getting fed like she was supposed to. The mom has to take her to speech, physical, occupational therapy and to see a visual and feeding specialist. They usually go see 12 different doctors per year. Heather, the mother, had to stop going to work, because taking care of Riplee is a full time job.

     

    Money was an issue for the family when they found out that Riplee had this disorder. In the beginning, it broke them. Riplee was in the NU for several months, but Riplee’s mom said that she was extremely lucky to live where she lives currently. There are a lot of programs that help cover those costs. Other moms and networks helped out a lot and started GoFundMe pages in order to raise money for her. People delivered diapers and things that helped a lot with her child. Riplee spent the first year in the hospital. Soon after, Riplee’s mother was able to get her daughter in special program. This helped their family a lot and it even got them medicare.

     

    Riplee’s mother uses social media in order to raise awareness for CFC. It wasn’t attention for her, but rather the attention from other parents who deal with the same thing. She has gotten messages from parents all over the world who have children with this disorder. Social media has really helped her to connect with other people and it helped her to share her journey with others. She and others participate in groups here (ex. Mascot for miracles). There are a bunch of different groups that cater to families that have children with disabilities. However, at first, she was hesitant to post on Instagram. She didn’t want my daughter to get hurt surfing the web. She didn’t know any other people out there. Social media really helped her to connect with other people and parents who are in the same exact situation as me. She found myself having to educate doctors because Riplee’s the first one that even had this disorder at the hospital. 

     

    If Riplee could talk, she would want to tell everyone, “My disorder does not define me. My disorder is not my personality. I am like everyone else and I don’t want to just be a label. I want to be included in everything and I don’t want to just be labelled as ‘disabled’. I want to be accepted, not for my disorder, but for her personality.” That is so true. We shouldn’t be quick to judge based on appearances, but on personality. Riplee seems like such a sweet girl that loves to play around and have fun and I’m sure she would love to have lots of friends. The fact that we have to stop telling people to judge based on looks and have to tell them to stop being so shallow is just terrible. She is being deprived of so many friendships just because she has this disorder, and that needs to stop. “If you ask any parent who has a kid with a disorder, their only wish is to have their child feel loved and included. My biggest worry is not what Riplee is not what she can’t do and what she can’t accomplish, but it’s the fact that I want her to feel okay about herself. I want her to be accepted and to feel like she fits in. Familiarity brings a sense of comfort,” says the mother.

     

    When asked to give advice to other parents, Riplee’s mother says, “I think my biggest advice that I learned is to advocate for your child. People need to trust their instincts when it comes to your kids. You know your child better than anyone else. You need to stick up for your child. You know more about your child than anyone else. My biggest advice is to trust your instincts and become a voice for your child. Do what’s right for your child and don’t back down if someone says otherwise. Fight for your child, don’t give in easily.” That’s amazing advice, honestly. If you don’t give up on your child, your child will know not to give up on you. She also states, especially for parents, “I think it’s okay to mourn. When you expect a child and have certain hopes and it has changed with the diagnosis. It’s okay to mourn for that loss. It doesn’t change you as a parent. It doesn’t make you any different or a bad parent. Find other parents out there. Don’t be afraid to put yourself out there and find support groups. Get out there and research about the disorder. Finding others dealing with the same thing will bring a sense of comfort.”

     

    There are so many good parents out there. I have learned so much from other parents. When you love your kids, you have to do what you have to do. It is what it is. 


     

    If you would like to get more information on CFC Syndrome, please check out the websites below.

     

    https://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome

     

    https://www.cincinnatichildrens.org/health/c/cardiofaciocutaneous-syndrome

     

    https://pediatrics.aappublications.org/content/134/4/e1149

     

    https://www.omim.org/entry/115150

     

    Make sure to check out Heather (Riplee’s mother) on Instagram (@haslam006)

     

    - Anisha Yellamraju

     



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