Moebius Syndrome

Join the Conversation on
Moebius Syndrome
129 people
0 stories
40 posts
  • About Moebius Syndrome
  • Note: The hashtags you follow are publicly viewable on your profile; you can change this at any time.
    Newsletters
    Don’t miss what’s new on The Mighty. We have over 20 email newsletters to choose from, from mental health to chronic illness.
    Browse and Subscribe
    What's New in Moebius Syndrome
    All
    Stories
    Posts
    Videos
    Latest
    Trending
    Community Voices
    Community Voices
    Community Voices
    Community Voices
    Community Voices

    My Smile you cannot see

    Moebius Journey, with Wesley

    My second pregnancy was as uncomplicated as my first. Hence, after the scan in my third semester, I looked forward to the birth. I was rushed into the theatre after three failed epidurals and Wesley was delivered by Emergency Caesarean.

    While battling to open my eyes in the recovery room, trying not to concentrate on the pain after my caesarian, I heard one of the nurses passing a comment: “shame, if only she knew”. The doctors told me: “he might not be able to see, hear, talk, walk, in fact, he won’t be educable. He hardly has a brain. He will need constant caring and would need to be institutionalized”.

    Still, in shock, I was told: “Your baby is very sick and might only live for 2 weeks, but if by a miracle he survives, he might not grow older than 18 years”. The diagnosis was Hydrocephalus, Moebius Syndrome and Poland Syndrome. I recall how devastated and helpless I felt.

    For 3 days I shut myself off from the world, refusing to see him or hold him. Instead, I prayed, cried and perfected my negotiation skills with God, whom I couldn’t allow to get off lightly. After all, I told Him: if you entrust me with this special child, give me the courage to cope, the love to hold him and protect him and the determination to never give up on him, and a three-some pact was sealed that day. Wesley survived against all odds, and up to the age of 13 years managed a hassle-free VP Shunt which had been inserted when he was 4 days old. I recall a further conversation with God when I thanked him for giving Wesley to us but telling him how I longed to hear him say “mommy”.

    His development was noticeably slower than other babies, but a friend who cared for him since the age of 9 months would give me a rundown of his daily activities when I fetched him after work. She recalls how he would turn his head as cars passed the house, attracted by the sounds he heard. When he was just a few months old my sister sent him a Fischer Price CD player, with nursery rhymes. His favourite was Twinkle Twinkle Little Star, yet, when we changed the CD to Baa Baa Black Sheep, Wesley objected with what could only be described as an early toi-toi (an African way of objecting to unhappiness by means of chanting or dancing). He displayed a strong rhythmic sense and he showed his appreciation for music by thumping his feet to the beat especially when we turned the volume down. In true Wesley fashion, at the age of three, 23 July 1999, bypassing the crawling stage, Wesley could walk, talk, and pretty much caught up with his peers reaching each and every Moebius milestone.

    What struck me was that Wesley’s development was never recognized or acknowledged by doctors purely because he bypassed the expected “due date” which resulted in his achievements becoming a reason for the family to celebrate and acknowledge his blessings. With my wonderful support system at home, we crossed each and every hurdle with flying colours while Wesley enjoyed the words of encouragement and praise, and of course the fuss.

    With many instances of school bullying and beating, Wesley remained strong-willed, positive and kind-hearted. Until about 3 months before he died, he never raised his voice at me. Like always, he greeted me at the door, asked about my day and would follow me into the room. There I would hear about his day and what he did, whom he saw and which girl attracted his attention that day. We would usually talk about the “girl” situation, reassuring me that he wouldn’t step out of line, that he believes a girl should be treated with respect but also lovingly reminding me that he had heard that “lecture” far too many times. He would ask about dinner and follow me into the kitchen as if he was going to help, only to make sure what’s for dinner and off he would go to his room. That night though, was different, he returned from his room minutes later, boldly shouted: “why me, why not Melissa or Kristen, why did you have to do it to me”. I was shocked, hurt and bewildered. After what seemed like hours, all I could utter was “Wes, I don’t know. I’m sorry; I think you should ask God.” Some time had passed when he eventually came back into the kitchen saying: “Mommy Kay, I’m sorry. I’m ok, I’m fine with who I am – besides, soon I will be able to smile just like you”.

    Soon forgotten, Wesley was his old self – keeping the girls in line and as so often word of advice to his elder sister, reprimanding her on her dress code with a “I see too much, or please wear something else before you step out of the house or a firm warning to stay clear of drugs and alcohol and a subtle plea not to venture into easy relationships” – the advice Melissa now tells me she misses dearly and valued so much about her brother.

    In short a bit about Moebius Syndrome

    We have to be careful how we make someone living with this syndrome feel.

    The facial expression of another person is often the basis on which we form significant impressions such as friendliness, trustworthiness, and status.

    What we often overlook is that while someone living with Moebius Syndrome has no facial expression, he/she can easily interpret the shock on another person’s face when coming in contact with them.

    With obvious facial differences, speech problems, eating difficulties, children with Moebius Syndrome are often victims at the school where they are teased and bullied.

    They have difficulty in participating in ordinary child-like activities such as blowing out their birthday candles, inflating balloons or even blowing bubbles.

    Children might become withdrawn from society as they feel less wanted or welcome amongst their peers and are forced to deal with their emotions of anger, rejection, depression and loneliness to name a few.

    On the brink of adulthood, Wesley showed signs of fear, scared that he would not fit in with friends and family. Judging from our conversations about girls, his greatest concern was if he would be able to kiss or whether she would feel the “butterflies”, but with a clear warning from me to be careful of those butterflies which always sent him off with a roar of laughter.

    When Nelson Mandela picked up and read the letter wherein Thando’s mother appealed for his help, lives were bound to change. Through him, the improbable became possible. How thankful we should be that this humble, kind spirited man walked out of prison with no hatred or vengeance in his heart. Lives changed, and so did mine. Through an unselfish act of Nelson Mandela, children like Thando, Wesley, Kelobogile, Divan and many others have received quality of life!

    Thando was also born with a rare genetic disorder affecting the facial nerves. Thando couldn’t smile!

    Without hesitation, he approached a very prominent businessman, Bertie Lubner who in return consulted with his son Marc who then contacted Prof George Psaras. A Canadian, Dr Ronald Zucker, flew to South Africa to meet with Marc and George to assess Thando as a suitable candidate for the procedure he had performed on children with Moebius Syndrome. In 1999, with Nelson Mandela as a Founder Patron, The Smile Foundation was born.

    Thus far the Smile Foundation has hosted many Smile weeks and during such a week up to 40 children receive free medical procedures which range between cleft-lip & palate, cleft-lip, facial burns, facial paralysis or Moebius Syndrome (also referred to as Moebius Sequence)

    On the eve of the Smile operation, 24th May 2007, Wesley was calm, yet excited as he had made a date with a special girl at school. I am told that he promised her ‘a night out’ but insisted that I drive them because ‘my mother would stress too much’.

    With the operation being successful, the wonderful caring he received while in the hospital and the assurance that he would be back for the second phase, Wesley and I left for home, his dream like Martin Luther King’s had come true!

    Friday, 20 July 2007 was like many other evenings for him. He had his favorite audience listening to his selection of music, hosting his private talk shows – including weather forecasts and the latest reviews on politics etc, when suddenly he rushed to urge me to phone Prof Psaras to tell him that he felt a twitch, that when he wakes up tomorrow morning he was sure that he would smile for me. His sisters hugged and kissed him, sharing his excitement. I told him I couldn’t do it, that it was too late and that I was not sure where Prof Psaras was at the time. I assured him that I would inform Prof Psaras via email Monday morning and that he should be patient till then.

    When I found him sitting on the bed early hours of Saturday morning, I immediately told him that we should go to the hospital, about 50km away. Wesley told me that God was taking his pain away and that I shouldn’t panic. But nothing seemed to matter to me more than to get him to hospital. I offered him mild pain medication and soon after he dozed off to sleep. He alerted me again at 9h00 that morning.

    When the Neurosurgeon eventually got to see Wesley, he was talkative, cheerful and responsive. A full blood count was taken, he was going to be sent for a scan and if there was a reason for concern, they would hospitalize him for observation. Being admitted to the trauma unit, I was not allowed to stay with him and stepped out for 20 minutes for them to complete the tests.

    Upon my return to the ward, I found him with his head turned, not responding to my voice and I could clearly see that his lips had turned blue. The nursing sister who had asked me to leave, assuring me that she would notice when something went wrong, was nowhere near him but came running when she heard me crying frantically for someone to help.

    After an emergency operation to release the fluid from the brain that same day, and the subsequent observation thereafter, we were told by the Neurosurgeon that he had reached his mortality, that Wesley would not ever be the same again. Wesley was declared brain dead and that day, 22 July 2007, we had to say our goodbyes.

    I don’t know if it will get better or if this deep sense of loss ever fades, but I am glad and grateful that we had Wesley. Clear to me now, is that if I could do it over again, and my journey includes Wesley with Moebius, I would want to do it again.

    My Moebius journey has not ended as I intend to share and help other parents in South Africa who might be battling with the same challenges we faced.

    After his smile operation, Wesley shared another dream with me – to start an organization to help others like him. The initiative is an attempt to provide non-financial support to children born with Moebius Syndrome and their parents. The support hinges around information-sharing, such as coping skills for feeding, which often is the most concerning factor at birth. Furthermore, the need to identify and document children with Moebius Syndrome will form an integral part.

    The battle within them about being loved, belonging, and feeling wanted is only a few of the trials they face and it remains our duty as parents to protect and guide them. More importantly, we have to positively expose them to the community so that the outward manifestations of this syndrome can be positively embraced.

    Natalie Abbott

    5 Times I'm Reminded I Have a Rare Disorder

    1. Being asked, “How do you pronounce that?” Bonus points if features of your disorder make the name of your disorder unpronounceable! I have Moebius syndrome, a rare neuromuscular disorder causing facial paralysis. It makes bi-labial sounds (M and B!!) hard to pronounce. Can you say irony? 2. I’ve met more people with my condition than most of my doctors. And that crowd-sourced knowledge from fellow patients can be as valuable as a doctor’s appointment. 3. Be aware. Be very aware. I sometimes feel I have awareness overload. We have awareness days, weeks and months (yes, different months…) for Moebius syndrome, craniofacial conditions, and associated conditions. Sometimes it takes all I have to keep up with them. (FYI, July is Cleft & Craniofacial Awareness Month!) 4. Sometimes I still feel alone. Sometimes, all this online connectedness just isn’t enough, and I still feel alone even among the barrage of Facebook posts. And that is OK for me, too. 5. Conferences are a big deal. When there are only a few thousand of you in the world, meeting people with a rare disorder is a rare occurrence. Enter: family conferences! People are already planning for and saving for the next Moebius Syndrome Foundation Conference next July. We want to hear your story. Become a Mighty contributor here . Thinkstock image by Hemera Technologies

    Natalie Abbott

    Why We Need to 'Think Zebras' on Rare Disease Day

    “Hear hoofbeats? Think zebras.” I don’t know where that phrase originated in the rare disease community, but I love it. If we are going to take this even further, I am probably a zebra with extremely funky and unique stripes as I’ve managed to get myself a collection of unrelated rare diseases. Thinking zebras is important for the Moebius syndrome community. Individuals with Moebius syndrome and their families have to be innovative, think outside of the box to problem solve difficulties and develop the mentality that being a metaphorical zebra is OK. Thinking zebras is important for me, and for others living with rare diseases. Life with rare diseases oftentimes necessitates ingenuity, creativity and adaptability. To be able to think outside the box when one hears the metaphorical hoofbeats is crucial for quality of life. Thinking zebras is important for the community when encountering rare disorders. There are more than 7,000 rare disorders, with advanced genomics discovering even more disorders every day. I personally don’t fault anyone for not knowing about all of them, but hope for kindness, empathy and support for those of us with rare diseases. Thinking zebras is important for the health care community, especially for rare diseases where there is no known genetic cause. We still rely on clinical diagnoses, which may not come, may be incorrect, or may simply just take entirely too long to arrive at. Thinking zebras is important for allies of the rare disease community, who wonder how they can help us raise awareness and mobilize. Thinking zebras is important for researchers in rare diseases. The theme of Rare Disease Day this year is “With Research Possibilities Are Limitless,” but research into rare diseases is often frustrating and sometimes fruitless (see: Moebius syndrome research, where they have not found anything genetic yet!) So next time you hear hoofbeats, look carefully as the zebras gallop by. We want to hear your story. Become a Mighty contributor here . Thinkstock photo by KimsCreativeHub

    Making First Impressions With Facial Paralysis

    Facial expressions are important parts of how we communicate and how we develop impressions of the people around us. In “The Expression of Emotion in Man and Animals,” Charles Darwin proposed that facial expressions evolved to quickly communicate emotional states important to social survival. He hypothesized that certain facial expressions are innate, and therefore universally expressed and recognized across all cultures. In 1971, psychology researchers Paul Ekman and Wallace Friesen tested Darwin’s hypothesis. They enlisted members of the Fore tribe in Papua New Guinea, who at the time had little contact with Western culture, to do an emotion recognition task. An interpreter read stories about emotional events to members of the tribe, such as “her child has died, and she feels very sad.” The Fore were then asked to match photos of Americans’ facial expressions to the story. The researchers also took photos of the facial expressions of the Fore people and showed them to Americans later. People from both cultures showed the same facial expressions for six “basic” emotions (anger, disgust, fear, happiness, sadness and surprise) and were able to recognize their meaning in others. This is strong evidence that certain emotions are evolutionarily based. In the decades since, research has continued to support Darwin’s hypothesis: for instance, showing that congenitally blind people display the same spontaneous expressions as sighted people. Indeed, facial expression may be one of the only universal languages. So where does that leave people with facial paralysis? As a psychology professor with Moebius syndrome, a condition involving facial paralysis, I’m personally and professionally interested in what happens when the face is no longer the primary means of expression. My Disability and Social Interaction Lab at Oregon State University has been investigating this question. Types of facial paralysis Each year, approximately 225,000 Americans are diagnosed with facial paralysis. It can be congenital, like Moebius syndrome or hereditary facial paralysis. It can also result from birth trauma if the facial nerve is damaged in the birth canal or by forceps delivery. Acquired facial paralysis from an illness or an injury is far more common. Bell’s palsy, acoustic neuroma, Lyme disease, stroke, multiple sclerosis, ear infections, injury to the facial nerve and others can all lead to facial paralysis. Bell’s palsy, which typically affects one side of the face, is the most common. While it’s usually temporary, approximately 15 percent of people with Bell’s are left with paralysis that does not improve. In a series of published and unpublished focus groups and interviews, my colleagues and I found that people with facial paralysis reported hearing all sorts of “interpretations” of their appearance. Strangers asked them if they had just gotten a Novocain shot, if they were having a stroke, or if the condition was contagious, deadly or painful. Some people made connections to the person’s character, assuming them to be unfriendly, unhappy or even intellectually disabled. Making a first impression In landmark research published in 1993, psychologists Nalini Ambady and Robert Rosenthal asked strangers to view short (six- to 30-second) silent video clips of high school and college teachers while they were teaching. The strangers then rated their impressions of the teachers’ personalities, based on their nonverbal behaviors – things like expressions and gestures. Today this sort of research using very short experiences to form judgments of individual behavior is called thin slice research. The strangers’ ratings were remarkably similar to teaching effectiveness ratings from the teachers’ students and their supervisors who knew them and their work very well. Our social world has an overwhelming amount of information, but numerous thin slice studies suggest we can navigate it efficiently based on a “gut” reaction. People’s first impressions are surprisingly accurate in predicting many social characteristics: personality, depression, even sexual orientation. Are facial expressions learned or innate? While facial expressions aren’t the only thing that go into a first impression, they are a pretty big element. So basing our impressions of others on their facial expressions is usually an effective strategy. However, the accuracy of impressions breaks down when people encounter someone with facial paralysis. At first glance, a person with a paralyzed face may look unfriendly, bored, unintelligent, or even depressed. And indeed, people with facial paralysis are often mistakenly ascribed these characteristics. People with facial paralysis compensate My own research has found that many people with facial paralysis increase expression in their bodies and voices, something I call “compensatory expression.” In a 2012 study my colleagues and I video-recorded interviews with 27 people with different types of facial paralysis. Research assistants (who were unaware of our hypotheses) watched the interviews and rated the vocal and bodily expressivity of the people with facial paralysis. Interestingly, we found that people with congenital facial paralysis, like Moebius syndrome, used significantly more compensatory expression than people with acquired facial paralysis. For instance, they used more emotion words, vocal inflection, laughter, gestures and head and body movements. They were also louder and more talkative. It’s possible that people with congenital facial paralysis are better adapted, perhaps because they navigated early developmental milestones with facial paralysis. People who acquired facial paralysis after birth, but have lived with it for a long time, may also adapt well. However, our early data suggest that there may be a unique adaptation advantage for people with congenital conditions. Facial expressions aren’t the only way people communicate. Thin slice research on facial paralysis Facial expressions play such a critical role in forming first impressions, so what does that mean for people with facial paralysis? In a series of experiments, we showed thin slice videos of people with disorders that affect facial movement, including facial paralysis and Parkinson’s disease to strangers. We asked the strangers for their first impressions based on the videos. People with severe facial movement impairment were rated as less happy and sociable compared to people with mild facial movement impairment. Participants also had less desire to form friendships with them. Our results across these studies have found that there is a very large bias against people with facial movement disorders. Crucially, participants rated people with facial paralysis who use a lot of compensatory expression as happier and more sociable than those who use less, regardless of the severity of their paralysis. We are developing communication skills workshops encouraging the use of compensatory expression for people with facial paralysis. In another thin slice study, Linda Tickle-Degnen along with Kathleen Lyons found that even clinicians with expertise in facial movement disorders viewed people with facial movement impairment in negative ways. This indicates how hard it is to override the natural human tendency to form impressions based on the face. And for clinicians, it is of special concern. Their facial expression bias may be a barrier to rapport or even clinical judgments of depression and pain in patients with facial paralysis. Raising awareness can help In a recent experiment, we found initial evidence that raising awareness improves how people perceive facial paralysis. Some participants read a few educational paragraphs about facial paralysis (much like the information in this article), and some were not given any information about facial paralysis. Next, all participants watched thin slice videos of people with facial paralysis. The participants who read the educational information rated people with facial paralysis as more sociable than those who did not read the information. We are continuing to develop educational materials for clinicians and the general public to raise awareness and reduce bias. In our focus groups, the most common comment from people with facial paralysis was a call for greater public awareness. They know firsthand that people are confused by their facial difference. They often wonder if they should explain it to others, but to do so every time they meet someone new would be awkward and burdensome. Widespread awareness would reduce the need to explain their condition, and would educate others to pay attention to the compensatory tactics they use to communicate their emotions. This post originally appeared here on The Conversation We want to hear your story. Become a Mighty contributor here .

    Natalie Abbott

    Benefits of Participating in a Research Study for Moebius Syndrome

    Last month, I participated in what is called a natural history study at the National Institutes of Health (NIH) Clinical Center. In these studies, experts on a condition (in this case, Moebius syndrome) work together as a team to learn more about the condition for research purposes and also offer patients individual advice for their medical needs. I was the 40th person to participate in my protocol. I participated in this study to get input from some of the best doctors in the world, but the benefits went far beyond helping myself! 1. Everyone is an expert! As a person with a very rare disorder, it’s frustrating to encounter a doctor who not only has never had another patient with your disorder… but has never even heard of it! It was amazing to have every doctor I encountered be familiar with Moebius syndrome… and beyond that, they were experts in their fields! Natalie and her service dog at the National Institutes of Health Clinical Center 2. How many appointments was that, again? I had 23 different appointments over five days. Can you imagine trying to schedule that many different appointments at my HMO? I can’t! The sheer number of doctors and fellows I saw was astounding! 3. I got to go to an amazing place. Research happens in many interesting places — I ended up at the amazing NIH Clinical Center to participate in the natural history study for Moebius syndrome. It was an incredible environment to be in! 4. Sometimes I got paid! Grants enable patients to participate in research without an undue financial burden — and sometimes even offer a financial compensation for time spent participating! I couldn’t have participated without the assistance. 5. You learn all about yourself and your medical conditions. With a complicated medical diagnosis and history, there are things that somehow get lost along the way; for example, apparently my legs are very different lengths — who knew! A fresh set of eyes on your condition can also help you figure things out that other doctors might have missed. For information on some of the research opportunities currently available through the NIH, see www.clinicaltrials.gov. The Mighty is asking the following: Create a list-style story of your choice in regards to disability, disease or illness. It can be lighthearted and funny or more serious — whatever inspires you. Be sure to include at least one intro paragraph for your list. If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

    Son With Moebius Syndrome Inspires Mom's Rare Disease Photo Series

    Ceridwen Hughes launched “The Rare Project” in 2015 to raise awareness for children with rare diseases and disorders, and now she’s adding even more portraits to the series for Rare Disease Day on February 29. Hughes’ son Isaac has Moebius syndrome, and after seeing how others treated him due to some of his physical differences, she made it her mission to help educate others about rare diseases. In 2015 she set up a community group for individuals with rare conditions called “Same but Different.” “Rare Disease Day allows everyone with an interest in rare diseases to really come together as one voice so we can make an impact,” Hughes told The Mighty. “It is vitally important that we break down barriers and empower people to have a voice so that the people behind rare diseases can be seen.” In addition to portraits, Hughes interviews the kids and their loved ones and shares their interests and hobbies with her audience. Image courtesy of Ceridwen Hughes / Same but Different Image courtesy of Ceridwen Hughes / Same but Different Image courtesy of Ceridwen Hughes / Same but Different Katja, above, has Moebius syndrome, and Hughes describes her as a “loving girl who absolutely adores music and can always be heard singing around the house.” Katja has some issues with coordination and balance, but she recently gained her green belt in karate, and she plays the piano as well. Image courtesy of Ceridwen Hughes / Same but Different James, above, has Coffin Lowry syndrome, a developmental disability. “It can take a long time to acquire a new skill and so each new achievement is something to celebrate,” James’ parents told Hughes. “We have been quite lucky so far because people are drawn to him because of his smiles and affection.” Image courtesy of Ceridwen Hughes / Same but Different Image courtesy of Ceridwen Hughes / Same but Different Percy, above, has Prader-Willi syndrome, and Hughes describes him as a “very sociable little boy who loves attention.” There is no cure for Prader-Willi, and Percy’s parents told Hughes, “We hope that by sharing our story through the Rare Project more people will be aware of conditions like Prader Willi and that they will not judge someone because they look or act differently.” Image courtesy of Ceridwen Hughes / Same but Different Image courtesy of Ceridwen Hughes / Same but Different Lachlan has periodic hypothermia, a condition so rare that there are only four other cases known worldwide, according to Hughes. “The family have never met anyone else with his condition and for them to be connected with other families who have this rare disease would be amazing,” Hughes told The Mighty. “They have been told there may be four other families, but they do not know who they are or where they are.” “When someone has an unusual appearance, people tend to focus on that… sometimes so much that they fail to see anything else,” Mary Dunkle, Vice President of Educational Initiatives at National Organization for Rare Disorders (NORD), told The Mighty. “These photos are important because they show the people behind the conditions. They remind us that, in fundamental ways, we are all the same.” Global Genes, one of the leading rare disease patient advocacy organizations, also applauds Hughes for spreading awareness about Rare Disease Day. “Rare Disease Day… [is] a time to raise awareness for rare families, celebrate innovations in treatments for orphan conditions and celebrate the patient advocates who share their gifts to help improve the understanding of rare diseases,” Kym Kilbourne, VP of Patient Advocacy at Global Genes, told The Mighty. “Never is this more evident than in Ceridwen’s inspiring photographs of rare children. Her photos help show the world that they too, should care about rare.” All images courtesy of Ceridwen Hughes / Same but Different For more info and images, be sure to visit Same but Different on Facebook and on the web.