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    Community Voices

    I'm new here!

    Hi, my name is mamabear5. I'm here because my 13 month old daughter has severe hypotonia, hypomyelination, and suspected leukodystrophy. We are on a journey to find her diagnosis and learning how to live each day with grief and tons of love.

    1 person is talking about this
    Community Voices

    I’m new here!

    Hi, my name is Frances. I'm here because my infant daughter has a lot of cryptic medical diagnoses and we are still waiting for answers. She has global development delay, hypotonia and possible microcephaly.


    1 person is talking about this
    Community Voices

    Where do I begin and the Illnessness end?

    I'm a 31-year-old, straight white male. I got OCD, social and other types of anxiety, ADD, hypotonia (low muscle tone), and I've had bouts of low-level depression for most of my life. I take 200mg of sertraline every day. I got a masters degree a couple of years ago, had a breakdown afterwards, worked in an underemployed position in warehouse logistics for three years. I now teach English online.

    I had one girlfriend five years ago. It ended with her dumping me after nine months. I have one lifelong close friend, and I still live with my parents, who are getting older.

    What does success look like for someone like me? I feel like I have so much potential, but I'm held back by all my problems. Are they excuses? I have a habit of comparing myself to others, but I genuinely don't know what is underneath all the mental illness...I feel like I can't separate myself from them, like my entire life has been a reaction to my brain and body betraying me...

    #Depression #Anxiety #attentitiondeficiydisorder #ObsessiveCompulsiveDisorder #SocialAnxiety

    4 people are talking about this
    Jill Hawkins

    FAM177A1: Two Siblings' Ultra-Rare Disease Odyssey

    I am the mom of the first two children recently diagnosed with an ultra-rare genetic disease. For the last 16 years, my husband Doug and I have been lost in a turbulent sea, struggling to navigate our diagnostic quest. But, just recently, we have gained momentum and feel we are now finding our way. Seventeen years ago, we had our first child, Nash. He was healthy and reached his developmental milestones on schedule. Seventeen months later, we excitedly welcomed our daughter Charlotte. Although healthy and seemingly typical at birth, she soon fell behind developmentally: her muscle tone was floppy, she smiled late, and was hard to engage. We began consulting with clinicians about Charlotte’s delays. We tried physical therapy, occupational therapy, and speech therapy; we met with neurologists, developmental specialists, and geneticists. Nothing seemed to work, and no one had an explanation for why our precious girl was delayed and falling further and further behind. Eventually, it became clear that this was not just a “delay” — Charlotte would likely require a lifetime of intense support and medical intervention. We were scared and sad but plowed ahead, providing all we could for our sweet girl. When Charlotte was 4, we considered having a third child. At this point, Charlotte had extensive genetic testing and all known disorders had been ruled out. She was thought to have a “de-novo” genetic variant, and we were told that we were no more likely to have another child with disabilities than any other family. So, we rolled the dice and, about a year later, gave birth to a darling little boy named Cooper. Cooper was healthy at birth, but soon we felt a dreadful sense of déjà vu as he fell behind developmentally. Although there was no way to know for sure, because Charlotte remained undiagnosed, we and our medical team felt that Cooper had whatever it was that challenged Charlotte. This clearly wasn’t a de-novo variant; this was most likely an ultra-rare recessive genetic disorder. Although we love our kids fiercely, this was shocking. More appointments and more therapies, all made exponentially harder without a diagnosis and a lack of hope for any precise treatment. We worried about how we would meet their needs and find solutions for their struggles. Add in the frustration, fear, and loneliness of them being undiagnosed, and we found ourselves in rough seas, on a ragged ship that was taking on more and more water. Over the years, we’ve been fortunate to have excellent care for our kids; however, despite exome sequencing and a devoted Seattle-based medical team, Charlotte and Cooper remained undiagnosed. Then, I heard about the Undiagnosed Diseases Network (UDN). One of the silver linings of having two kids likely affected by the same unknown genetic variant is that your family is quite interesting to clinicians and researchers — it’s probably one of the primary reasons we were accepted into the UDN in 2015, when Cooper was 5 and Charlotte was 10. We were thrilled that someone was willing to take a deep dive into our case. Yet, even as it appeared that our case might be “solvable,” it proved instead to be quite challenging to our expanded team. Finally, in 2019 after four years and multiple rounds of whole-genome sequencing, the UDN found large deletions on both copies of both kids’ FAM177A1 gene. Very little was known about this gene, but four siblings with overlapping symptoms to Charlotte and Cooper’s, and variants on this gene, were found in a research paper: we knew we were onto something! In the hopes of finding more patients and generating interest in our gene, we made a short film about our journey which can be viewed on our website, www.FAM177A1.com. Today, through gene-matching databases, we know of a handful of other cases with similar clinical presentations and loss of function (LOF) variants on FAM177A1. We have yet to personally connect with other “Fam” families, but this is something we desperately want to happen. We know that there are more patients out there and hope to find them soon, now that this variant has been identified and because papers about FAM177A1 are scheduled to be published in the next few months. Zebrafish with the function of FAM177A1 knocked out are currently being studied at the MOSC at Washington University and at the Metabolomics Core at Mayo Clinic, and the FAM177A1 protein is being studied by Dr. Pietro De Camilli’s lab at Yale. What we know about Charlotte and Copper’s disease-causing variant, FAM177A1, so far is this: • In patients with mutations on FAM177A1, both copies of the gene are inactivated, either by large deletions or by nonsense mutations, in our case autosomal recessive compound heterozygous. • Phenotype includes macrocephaly, global developmental delay, diffuse hypotonia, autism, seizures, progressive motor decline, cataracts. • The FAM177A1 gene makes the FAM177A1 protein, which is a small protein that is expressed throughout development and throughout embryonic tissues. • FAM177A1 is localized in the Golgi complex and endoplasmic reticulum. • Studies with Brefeldin A have demonstrated that FAM177A1 is required for normal Golgi function. • FAM177A1 binds to the VPS13B protein, which has been implicated in the transport of lipids between intracellular membranes; it’s hypothesized that FAM177A1 may also be involved in this process. After a 16-year diagnostic quest, we finally have a diagnosis, and information about this previously understudied gene is accumulating at a relatively rapid pace. Our team of clinicians and researchers think that a treatment is within reach. We are determined and are urgently seeking more information as Charlotte’s motor function is now in decline and Cooper’s seizures are worsening. We have just recently started the FAM177A1 Research Fund and are raising money to fund research and develop therapies to increase the quality of life of Charlotte and Cooper and others like them. We are fully committed to making an impact on this ultra-rare and neglected disorder. After 16 years of idling without a diagnosis, we are quickly gaining momentum. We have a devoted and talented Scientific Advisory Board (SAB) guiding us on our road to treatment. We still don’t know why Charlotte and Cooper, our sweet, rare zebras, are struggling so much. We have no road map, no treatment. But, we are learning more every day and a treatment or cure is possible! This is an incredibly exciting time for genetics and precision medicine. We can do this! We will never give up. I have a dream that someday, soon, my family will cruise on a sturdy ship, with a good map and strong sails that have been precisely made for FAM177A1.

    Community Voices

    See you and love you ❤️

    <p>See you and love you ❤️</p>
    Jacquelyn B

    It’s OK to Have Hard Days as the Parent of an Autistic Child

    I am a happy mother, sometimes sad mother. I am a strong mother, sometimes vulnerable mother. I am a sensible mother, sometimes sensitive mother. I am a protective mother, sometimes advocate mother. I am a tired mother, sometimes energized mother. I’m a some days are hard mother, questioning if I am doing everything right mother… Just a mother giving it her all. I am just an average woman, nobody special. I am trying to give my son the best of everything.  Trying to give him a beautiful life, always making sure he stays true to his authentic self! I want him to be proud of who he is! I never want to change who he is — he is simply magnificent. I am the mother who lays awake in bed while everyone else is asleep. Laying there overcome with an immense amount of anxiety. Isolated. Misunderstood. Overwhelmed. Worried. Defeated. Being the mom of a child with disabilities is hard. Some will judge me for admitting this. I am sick of sugar-coating things. Some days I am not OK. This is all new to me. During the last 10 months since my son received his diagnosis, I had a lot to learn. I made sure to listen to autistic adults, read their blogs and books. I must now be an expert in autism, knowing up-to-date terminology so I don’t offend anyone when speaking on behalf of my child. I must now be an occupational therapist, physical therapist, and speech therapist. I must be an ASL teacher, teaching my son sign language. I must be a special education teacher, a nurse, and a specialist. I must know everything about childhood apraxia of speech, motor planning, oral apraxia, sensory challenges, and hypotonia. I must be an expert with IEPs, an expert in advocacy, and know all the laws that protect my child’s disability rights. I’m not a bad parent for admitting that it can be hard — just because you may not understand my hard does not mean it isn’t.If you say you are struggling, you are sometimes ridiculed, but all parents have difficult days, months, and even years. I see mothers with neurotypical kids all over social media talking about how motherhood is hard. I am learning as I go, trying my absolute hardest. Even days I feel like I got nothing to give, I still give it my all. On those hard days, I hug my baby a little tighter. If I am having a hard day, I can’t imagine how he is feeling. I wish I could view the world through my son’s eyes. Learning to really listen when you have a child you can not speak yet, to hear what your child cannot say. Some days the mental load of all the specialists, evaluations, phone calls, team meetings, distance from friends and family, people telling you what is “wrong” with your child, how far delayed they are, the doctors, PT, OT, speech therapy, and long wait lists take a toll. To be clear, it is not my child that is exhausting. My child is my greatest blessing. My world. What is exhausting is having to fight for services, dealing with a broken system, and people wanting to fix my child. He is not broken. Arguing with insurance companies, making sure the school is following my child’s IEP, having to defend your child to others who criticize or think they know better. What’s exhausting is people thinking my son is just a “little autistic” and therefore things are not as challenging for him. That we can break routines, that he can handle things I say he doesn’t like. I’m so sick and tired of being questioned. I am his mother. He is my son. I know him better than anyone. There is no “easy” autism. You know what we decide to share with you. This is why boundaries with friends and family are a must. I can’t help but say I am “fine” when someone asks how I am doing, because even if I explain it, they won’t understand. Just like I didn’t understand until I became the parent of an autistic child. It took being on the other side to truly understand. I do get it now. To those with disabilities, I am so sorry I am really just now seeing you. I am human. I cry, I have feelings and I am sorry I am not Superwoman. It has been 10 months since Rocco’s diagnosis. Someone told me the first year of the diagnosis is the hardest. Then you will find your groove, and your tribe of others who just get it. There are new bonds and friendships to be made. I know it will get easier and then hard again. This is life. As long as my son is happy, well… that’s all that matters.

    Jacquelyn B

    What People Don't See When They See Me With My Child With Autism

    I’m that mom. The mom you roll your eyes at because I’m watching my 3-year-old like a hawk at the park. But little do you know my child has hypotonia of the ankles and flat feet which causes him to be “clumsy” or “floppy.” I am that mom… The mom who you judge and say I need to “cut the cord.” But little do you know, my child has autism spectrum disorder. The mom who won’t let anyone babysit my son. But little do you know, my son has childhood apraxia of speech; he is non-verbal. The mom who is cleaning my son’s hands over and over. But little do you know, my child has sensory challenges and does not like to be dirty. The mom you think is too defensive when it comes to her child. But little do you know how much she loves and protects her son — even more so since his diagnosis. I’m that mom… A mom to a son with invisible disabilities. A mom to a child who sees the world so differently. We live in a world where different and unique are often viewed as “weird.” We need to respect their world and the many special gifts they bring to us. Autism is a different way of thinking. We can learn from each other. Our society needs to embrace autism instead of fearing it. These children deserve acceptance! Why must we try to change those on the spectrum to “blend in” and make the rest of the world less uncomfortable? Why can’t we simply accept them as the unique beautiful people they are instead of trying to “cure” them? People with autism are not broken. I get it, the unknown often scares neurotypical folks. To be blunt, get over it. Imagine how someone with autism feels. Be the change and embrace differences. One person can make a huge impact on someone. Be that person. Please teach your children about other kids with differences and that they should befriend them. Don’t be the cool kid, be the kind kid. I am that mom… The mom who buys every book on autism. I’m that mom who taught her son sign language so he can communicate without frustration. I’m that mom who educates herself so no one can pull a fast one on her when it comes to her child and his diagnosis. I’m that mom who blows up your social media newsfeed with autism and apraxia awareness. A quote from a book by Bill Nason I read says: “We often teach them how to talk before teaching them how to relate. We teach them social scripts before teaching them the functional value of relating. We teach them to look at us in the eyes without teaching the value of referencing others to share information, emotion and experiences. We called them weak in theory of mind and empathy, unable to read the thoughts, feelings, perspectives, and intention of others, while ignoring what their thoughts, feelings, and perspectives are. We often force them to learn correct behavior before understanding what their behavior is saying. We want them to do it our way to be like us without understanding and appreciating their way. We are often more rigid and inflexible than them, and less empathetic and understanding. We need to meet them halfway. Always understand, validate, and appreciate first before trying to guide and assist change. Value their world first before teaching them to value ours. Be a working partner to become a trusted guide. They will enjoy following our lead when we understand, value, and appreciate them first.” I’m that mom who can’t be everything to everyone right now. The mom who is trying her damndest to do everything for her son. Please, stop and think, have some empathy because you would do the same if it were your child. To all the mothers of kids with disabilities in the world, you are my people now. I admire you all! I’m that mom, and a proud one!

    What Rare Disease Day Means for My Son With a PIGN Gene Mutation

    The last day in February is Rare Disease Day — a day designated to raise awareness for people affected by rare diseases. We never knew such a day existed until we had a personal reason to celebrate and share. Why is it important? Hardly anyone knows of Teddy’s diagnosis. That means there’s no research, no funding for research and no experts on this diagnosis — essentially no resources specific to his disorder. The one resource specific to his diagnosis is our small group of other families affected by the same or similar PIGN mutations. The difference between being alone and being connected to others is incredibly powerful. For that, I am grateful. Someone asked a thought-provoking question, which I think is one of the best questions you could ask anyone about a diagnosis: “What is his diagnosis, and what does it mean for him?” So many responses flickered through my mind: It means everything is harder for him. It means everything is harder for us. It means he works so hard to reach milestones that others easily achieve. It means that when his older brother has a fever, we give medicine to Teddy just in case he would develop a fever as well. It means we worry that every fever will trigger a seizure. It means we fought with insurance companies to get him the testing he needed to finally be diagnosed — two-and-a-half years after his first seizures. It means we continue to fight with insurance companies to get him the therapy that allows him to make gains, no matter how slowly. It means his first playmates, aside from his brother and cousins, were his therapists. It means that instead of being passionate about helping people with disabilities because of my career, it became my entire life. Yet my response was this: “He has multiple congenital anomalies hypotonia seizures syndrome 1, a genetic disorder caused by mutations in his PIGN gene. It’s more commonly referred to as CDG-PIGN. He’s a curious little boy who loves people and has global developmental delays. He gets OT, PT and speech therapy and is starting horse therapy next month. He’s made tremendous progress with his gross motor skills and slowly but surely is making gains in other areas. There’s so little known about his disorder, and we believe he’ll write his own story. I know you have two adorable boys with a rare disease as well. Sometimes our children open our eyes to a whole other world we never could have fully understood without them.”

    Lindsay Filcik

    Disability Is Not a Bad Word

    Before Ivy was born, disability felt like a bad word. A scary word. I tiptoed around saying it. Those perceptions bled into my actions and thoughts about people with disabilities. It affected how I handled Ivy’s diagnosis. After Ivy was born, it became a sad word. I didn’t want it to be a word that described my sweet, tiny baby. I didn’t want her to be pitied because of this word. Looking back, I see that it was just my ableist thinking skewing my perception. Here’s what I know now. Disability isn’t a bad or sad word. It is just one of the many words that people can use to describe themselves. Black, white, blonde, funny, shy, disabled. Just descriptive words that capture one part of a person. Disability can be defined as any condition of the body or mind (impairment) that makes it more difficult for the person with the condition to do certain activities (activity limitation) and interact with the world around them (participation restrictions). When I think about Ivy, her diagnosis fits all the criteria. Down syndrome affects both the mind and body. It does make it more difficult for her to do certain activities. Hypotonia affects her motor skills and speech. Her intellectual disability affects her speech and will affect her ability to interact with the world around her. Accommodations will need to be made for her to grow and thrive. Ivy has a disability. It is just one part of her. Ignoring that fact would mean that I wouldn’t be doing my part to help her access the world around her and participate in activities like her peers. While she has all the same basic needs as everybody, she also needs some different things. She uses a G-tube, sign language, a walker, ankle braces… supports that help her because she has a disability. Supports that would not be equitable to remove. Ivy has a disability, but her disability is not all we focus on. In fact, it fades into the background most of the time. It’s not the most important thing about her by far. But it is a part of who she is. And it does not make her worse. It does not mean she should be pitied. It just means that she has some different needs than somebody who does not have a disability. It is also important to note that the word disability legally ensures that Ivy has access to all kinds of things, from an IEP in school to governmentally funded programs as she grows. Teaching my kids about disability and talking about it means they know it as a word that can describe a person. They know it as only one aspect of a person. They know it describes somebody who might need a little extra help, act or look a little differently. They know it describes somebody who is more like them than different. Disability is just part of their world. Ivy has a disability. So do many people around the world. Saying that used to feel uncomfortable for me. But that was about me, not about them.

    Why I Chose This Photo to Remind People to Stay Home During COVID-19

    I was searching for a black and white photo of a baby’s foot. I wanted to make a meme with an arrow pointing to the baby’s second toe, and say “Be like this little piggy: stay home!” I found a photo of a beautiful little foot of a baby with Down syndrome like my brother’s foot. The first toe has a wide space between it and the second toe. I used this photo for my meme, encouraging everyone to stay home for the holidays, to stay safe. I am a physician, grateful to have had a brother with Down syndrome for 67 years. I miss him every day. I am sure that the compassion he taught me led me to my profession. Caring for him, learning from him, listening to him and his gentle and compassionate ways made me a much better person. His hypotonia made his speech difficult to understand, so I really learned to listen. That has made me a much better psychiatrist. Listening is what my profession is all about. Although he is now gone from this world, I carry the memory of him, and of all he taught me with me every day. Be like this little piggy: stay home!