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    Community Voices

    Superstar Heroes

    Giving birth to my son was such an emotional moment like all births. Being told shortly after that he has a genetic syndrome just by his appearance was even more emotional for me. A few months have passed, multiple specialist later the results were in. My son who we call Aj had a full whole genome sequence study on his DNA and it came back with no real answer. The changes that were found in his DNA had little to no evidence to support them and that made his condition a #RareDisease . I mean extremely rare! As the years came and went Aj was diagnosed with plenty of other medical disabilities. Some were more challenging than others but here are just a few to name; ADHD, Autism, #Microcephaly and more. As a mom I wanted to educate myself as much as possible so that I can help Aj get the best treatments, therapies and at home care I could. I also wanted Aj himself to understand that he had several disabilities. I encouraged Aj to strive like any other child and that his disabilities were limiting him in some areas but if he poured his heart into anything that his outcome would be limitless. I went to the library, book stores and online book shopping trying to find stories that were relatable and could help me explain Aj’s medical conditions without boring him. That was really hard I couldn’t find books that shared more than one condition at a time. So I wrote one! As fist time Author I became intrigued about helping parents, educators, physicians explain disabilities and life in general of a special needs child. I started with a series titled “Superstar Heroes” Aj goes to camp is the first book in the series I have self published this book in both English and Spanish. It is available on retail online book platforms. I have taken the negative and turned it into my positive story . I continue to educate myself, others, Advocate for children with special needs and also Interpret for Spanish speaking individuals so that they can better understand their conditions. Aj goes to camp features 6 diverse children, 6 disabilities with a common goal of inclusion. The six disabilities are Autism, #CerebralPalsy , #DownSyndrome , #HearingLoss /Deaf, #MuscularDystrophy , #RareDisease featuring Aj. All kids have the Cape-Abilities to be the greatest! Support us, spread the word and become a S.W.A.N kid too.

    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.


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    Community Voices

    When we ask you to stay home, please listen!

    It is hard to not feel anxiety in the face of the Covid-19 outbreak. The information we are getting about the virus is changing all the time and new regulations about where we are allowed to go or who we can see changes just as fast. Governments have been urging people to stay home, with some actually using police enforcement to make sure that people are following the regulations.

    Yet, today I still hear about people gathering in places like beaches or keeping their restaurants open despite the rules. And to be honest, it makes me incredibly angry.

    My beautiful daughter Daisy was born with Microcephaly, a rare condition that basically translates to small head. There is a wide range of issues that can appear, some being fairly mild to others being very sever.

    And Daisy had the sever type. Her brain did not develop in the same way as the rest of us, causing her to have no independent movement, difficulty swallowing and sever developmental delays. She was the love of my life- bringing me incredible amounts of joy, even amidst the difficulties of taking care of her. She was medically fragile- with her difficulty swallowing, her lungs were often affected by bits of food or water going down the wrong tube. When she got a cold, it took a long time for her to recover and every winter season, we stayed close to home as to avoid germs.

    But we couldn’t shut down completely and in the winter of 2015, Daisy contracted three different colds in a row, the last one landing her in hospital. She got RSV– Respiratory Syncytial Virus- which is actually very common as most children get it at some point, normally just presenting as a bad cold. But for Daisy, this incredibly common virus, was deadly. After two weeks in the hospital, Daisy passed away on her fourth Birthday- Jan. 3 2016.

    Despite our best efforts to keep Daisy safe- the entire family got the flu shot each year- a common virus which passes around schools all over the world, killed my daughter. It was a regular year, with the regular colds and flus going around. But because of my daughter’s medical fragility, she got something that she could not fight and we were forced to say our final goodbyes.

    The fact that Daisy probably got this virus from a schoolmate, kills my soul. She loved school and I never would have taken her out just because she could get a cold. BUT, if there was an outbreak of a new unknown virus, I would have been one of the first to isolate. And it would have been hard and I wouldn’t have liked it, but I would have done it.

    The problem would be that, I wouldn’t be able to completely cut myself off from the world. My husband would have still gone to work. I would still need to go to the grocery store. And if either of us unknowingly came into contact with a virus, we would have easily passed it on to our baby girl. Hugs and cuddles were big in our family. And is something I long for today.

    So, with the news about Covid-19 and the rapid spread, I’ve been thinking a lot about my Daisy girl and what it would have been like if she were still with us. It would have been doubly scary with her here, so though I miss her every second of every day, I am glad I do not have to worry about her safety.

    But I do worry about the safety of others. For those who think this virus is no big deal or think that they are healthy so why should they worry- please, please listen when we ask you to stay home. It is not for your safety that we ask this of you. It is for the safety of those who will not survive if they are infected. Just because you do not think you’ll be affected by this virus doesn’t mean that you cannot spread the germs to people who would. We shop at the same grocery stores; we go to the same pharmacies. So, I beg you, if you are able to stay home- STAY HOME! If not for you, then for Daisy.

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    Community Voices
    Jennifer Carfora

    Receiving a Rare Diagnosis for Your Child and Grieving

    Our journey with Jaxson has been anything but easy. My firstborn son’s journey was simple – an easy pregnancy with zero pregnancy-related symptoms and no complications, thankfully hitting every milestone. Our youngest son’s journey started similar to his big brother’s, but at 19 weeks, things started to shift. When I walked out of the ultrasound tech’s office, I knew things would be completely different. We were told to return back the following week for a “routine” check because they were not able to see his kidney’s and umbilical cord in its entirety. OK, this seemed like something that could happen. It seemed plausible. I mean, you hear all the time about how some doctors guess the wrong gender. My sister-in-law even thought she was having a boy her entire pregnancy. So, not being able to see his kidneys and umbilical cord seemed like no big deal, until I got a call from my midwife. She explained that we would be followed by a perinatal specialist off post along with receiving care at the Naval Hospital. Apparently, he had been diagnosed with a two-vessel cord and with that came complications. Week after week, and month after month I had non-stress tests, ultrasounds to measure his blood and oxygen flow, and amniotic fluid levels. We were induced at 39 weeks because he was measuring four weeks behind; they estimated that he would be may be five pounds. They explained why that they thought he would thrive best outside of the womb. If only it was that simple. Our first few months were even more difficult; he was diagnosed with the inability to suck and swallow, failure to thrive, he had reflux and GERD, microcephaly, and he was even misdiagnosed with laryngomalacia. That’s what happens with our children who have rare genetic disorders: a lot of misdiagnoses. Thankfully our pediatrician was awesome and was able to think outside of the box. He put in an order for genetic testing because of everything that was going on with our little man. And in April 2018, we received our diagnosis of Dyrk1a syndrome. I can remember what I was doing that day like it was yesterday. I had taken our eldest to VPK on the Naval Air Station, and decided to have a cup of coffee with my friend that day. As we were enjoying ourselves and our coffee, I received a call from the team of genetics in Birmingham, Alabama. “We have an answer,” she said. I honestly didn’t think we would receive an answer because the micro array came back negative. I was so relieved; we finally had an answer as to why our little guy was so late at meeting milestones, why he still hadn’t said his first word, and why we had such a difficult first year of life. The doctor explained that his symptoms were due to Dyrk1a syndrome. “This syndrome wasn’t even on our radar, we are shocked.” I had no idea what Dyrk1a syndrome was and what it meant forus; all I could think was how happy I was that we finally had an answer! She asked if I had a pen and paper ready so she could recite the symptoms and features of Dyrk1a syndrome—all of which were found on Google. As I was listening to what she was telling me, all of the dots started to connect. Every little feature she gave me, our little guy had. Everything started to make sense. But then she started to tell me that children who have Dyrk1a syndrome have intellectual disabilities, developmental disabilities, skeletal abnormalities, epilepsy and seizures as well. My relief started to fade into grief. I started to grieve for my baby. Unless you have a child with a disability, you might not understand why I grieved. I grieved for the child I thought he would be. I grieved for the future and what it meant for him. I grieved for the pain and fear he felt experiencing his firstseizure. I grieved for a while. I grieved every time I had to explain to family, to friends, to doctors, to strangers what Dyrk1a syndrome was and how it affects him. As we grow closer to his third birthday, I’ve found myself grieving less. Don’t get me wrong, I still worry about him and his future and what will happen to him when we’re gone. It scares me to death. But we’ve found a new family, our Dyrk1a syndrome family. We’ve found people who understand our frustrations, our tears and our fears. They’ve truly helped me cope. My one advice to parents receiving a rare disease diagnosis is: It is OK to grieve. It’s OK to cry. It’s OK to scream. It is a perfectly normal reaction and you don’t let anyone tell you otherwise. Once you’re ready, reach out to other families with that rare disease. They will be the family you didn’t know you needed.

    Community Voices

    Has any other mom went through the same or have a child with this disability called microcephaly

    Well I went for my 33 week checkup on myself and son
    After they did a ultrasound I find out that he’ll be born with microcephaly
    All I could do was cry because I feel like it’s not fair
    I just don’t understand how did he get it when my other two children never had it

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    Community Voices

    Champ1, A New Rare Genetic Mutation

    In 2003, when Bethany was born, we had no idea the journey that we would be on. I had a normal pregnancy and a normal delivery. Even though Bethany’s Apgar scores were fine, to me she didn’t look well. She looked pale and her lips were slightly blue. With testing we found out she had low oxygen levels in her blood and streaking on her lungs. So within a few hours after her birth she was transported to Cottage Hospital in Santa Barbara, California. And there she would stay for one month. She was having trouble keeping milk down with something like acid reflux, but it was more than that. After a test in the NICU, it was discovered that she had a malrotated stomach. So two weeks after she was born she had surgery to correct this. She also had a G-tube placed. But thankfully after her surgery she was able to eat normally and we never needed to use the G tube and it was eventually removed.

    I really thought this was extent of her condition. I thought it was a matter of surgically correcting the situation, getting her oxygen and temperature levels back up and helping her eat. I didn’t fully understand what the doctor was explaining to me back then, that she had some type of (genetic) condition that he said we may or may not find the answer to. It took a while for this to sink in, even when we went to UCLA to meet with the genetic counselors I didn’t fully understand what was going on or what we were talking about. But when she was in the NICU, I thought she wasn’t going to make it. I thought she was going to die, though I didn’t know why.

    I know God doesn’t make deals or at least I don’t think he does. But I prayed desperately back then. I told Him that I didn’t care what was wrong with Bethany that I would love her regardless and that I wanted to take care of her. If only He would let her live. And I believe He answered my prayer because today Bethany is 15 years old. We have been through so much with helping her in her development and getting genetic testing to find her diagnosis.

    In 2015, after 12 years of searching for a diagnosis, I was called by Julie Jones of Greenwood Genetic Center in South Carolina and finally given a diagnosis. Bethany had Champ1 Gene Mutation, a rare genetic mutation that causes severe speech delay and #IntellectualDisability, among other things. It is new and extremely rare and there is not a lot that is known about it because it has not been researched.

    “De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features” (Tanaka et al 2015 CHAMP1) The Champ 1 gene is located on chromosome 13q34. In other words, this gene mutation overall causes developmental delay.  Here are some additional characteristics people with Champ1 may have: hypotonia, #Microcephaly, severe speech impairment, short stature, may have seizures, congenital abnormalities. But the primary characteristics are an intellectual disability and severe speech impairment.

    As of today, as far as I know, there are over 44 cases of Champ1 World wide.

    Like Autism Spectrum, there are ranges within this condition of severity and some champs are even diagnosed as having Autism. Bethany has not had that diagnosis.

    Bethany did not learn how to walk until she was eight years old and it has taken many years since for her to be more stable. She is nonverbal for the most part. She will occasionally say, “Mama” and “Uh- Uh”, which means no. She can walk with assistance, but is unstable at times and can easily be knocked off balance. But she is improving every day. She needs constant supervision and is incontinent and wears diapers. She is a very happy, loving daughter and we are so fortunate to have her in our lives. We love her very much.

    I think it’s important to be careful how you interpret circumstances in your life. You may think: “What did I do to deserve this? Is God punishing me?” But I believe difficult times are not punishments. They are challenges to overcome. You have to dig down deep into your soul and find out what you are truly made of. I was a mess (and still am somedays), but I couldn’t have gotten through all this without my faith and trust in God, and the support, love, care, and prayers of family and friends. Life with a child with special needs is definitely challenging at times. Life is not what I thought it would be, but I find joy in the simplest of rewards and that is seeing Bethany’s spontaneous smile.

    There is a Facebook support group for families with Champ1. You can go to www.champ1gene.com to learn more. This site is run by Stacey McPherson of Scotland.

    There is also a new research organization that is a non-profit created by one of the families in the support group. You can go to www.champ1foundation.org to read more about this and or donate to help with the research and cure. This foundation was created by Jeffrey and Katis D’Angelo of Florida, USA. And I occasionally blog about Champ1 at: www.champ1champion.wordpress.com

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    Ana Villanueva

    The Do's and Don'ts of Parenting Facebook Groups

    I am a member of a number of Facebook groups. Most of them are for parents of children with disabilities and I learn a lot from other moms through those groups. In the past few weeks that I’ve been checking those pages, I noticed there are things that should not have been posted or at least should have been edited. But, it’s the reality of social media. It is a two-edged sword. The Good I get inspired by posts from moms who describe how much they love their children and how proud they are of them. I admire those moms, their self-sacrificing spirit and unconditional love. Many share their stories of heartaches, frustrations or confusion, but they also tell about their triumphs and joy. I’ve seen photos of cute little ones who, regardless of having multiple surgeries, give off their best smiles. They are our heroes. The Bad Amidst those good stories are sad ones. It pains me every time I see posts about children being rushed to the hospital and mothers asking for our prayers. There are also posts about children who, unfortunately, did not make it. Those are the hardest to read. But these bad news still carry with them a faint image of something good. There were lessons learned. Those parents showed remarkable love and bravery from which I draw strength. The Ugly Although moms in those groups are united by a common experience and goal, they are still individuals with different personalities and beliefs. These differences often result in conflict. Sometimes posts can be disheartening, causing undue guilt. It can certainly be frustrating when you read about other moms seemingly superhuman skills and abilities. After reading their posts, you’d be left asking “What’s wrong with me?” “Why am I not able to do such things?” Sadly, the answer born out of guilt can be: I am a bad mom. After careful consideration of everything that’s been said, I thought of coming up with a list of “Do’s and Don’ts” when joining Facebook groups. We certainly don’t want those groups to evolve into something that will only break one’s spirit. 1. Be respectful, no matter what. Recognize we are all different. We come from different backgrounds and we have different belief systems. 2. Think twice before posting. Always strive to be inspiring, encouraging or informational. We already have a lot on our plate and the last thing we need is something that can make us feel like failures. 3. If you need to vent some anger or frustrations about challenges you face, post to seek advice or simply find a listening ear. Remember we are there to help each other feel better, not attack each other. 4. Avoid stirring up debates. As much as possible, avoid controversial topics which may not really be helpful to the members. 5. Avoid posts that are self-promoting. It is OK to share our child’s accomplishments or milestones because they can inspire others. Other members may not really be interested in your self-promotion. Facebook groups such as ones for parents of children with disabilities can be an excellent source of encouragement. Let’s work to make it stay that way. After all, we really need each other, don’t we? Follow this journey at Miguel’s Life With Microcephaly. We want to hear your story. Become a Mighty contributor here . Getty image by OcusFocus

    Ana Villanueva

    Lessons I Learned About Caring for My Child With Microcephaly

    Two years of caring for Miguel has taught me a lot about microcephaly and myself. Here are some of the lessons I’ve learned: 1. Microcephaly does not mean the end of the world. Like many parents who receive news about their child’s medical issues, I felt hopeless. What will happen now to my child? Will he be able to function and be independent? Will he be able to grow up or will his life be shortened by this condition? There were a lot of questions and the only answer we received from his doctors was, “we just have to wait and see.” Now I know there are many cases of children with microcephaly who grow up and function independently. That certainly gave me hope. I knew then that I have to do my best to help Miguel reach his full potential, whatever that may be. It certainly is not the end of the world for us. 2. Don’t obsess about the size of your child’s head. When we found out about Miguel’s microcephaly, I became obsessed about the size of his head. I was compelled to measure his head all the time. But believe me, it doesn’t help. So, put that tape measurer down. 3. Early intervention is important. I realized if I want Miguel to reach his full potential, I need to access services provided for children like him. It’s great that Miguel’s doctor furnished me with lots of information on who to call and what to do. So, I contacted our Infant Development Program and signed up for physiotherapy. There was also a case worker assigned to us who helps in coordinating therapies for Miguel. There are speech and occupational therapists who visit Miguel at least once a week. I can attest to the benefits of signing up our child as early as possible. For Miguel, it has meant noticeable progress. 4. Learn as much as you can about your child’s medical issues. Most children with microcephaly have other issues like epilepsy, hypotonia, hypertonia and cerebral palsy. So, it is imperative that we are vigilant as to what symptoms we are seeing in our child. For me, Google has become my best friend. Whenever I see something different with Miguel, I google the symptom and find several resources talking about different medical issues. The information helps me in asking the right questions to his doctors. At first, it was just microcephaly I was researching. Then, it moved on to hypotonia after we were told by his neurologist he has low muscle-tone. When he started having seizures, my research brought me to articles about epilepsy. Learning as much as I can about Miguel’s condition somehow puts my mind at ease because I know I am not groping in the dark about what to expect. 5. Maintain a file of all medical reports. While doing research on Miguel’s condition, I came across a blog of a mom with a child with a disability. She said from day one, she maintained a file of all her child’s medical reports. That gave me an idea. I took a binder and started compiling all lab results, doctor’s reports and even correspondence with agencies providing services to Miguel. It has helped me be organized and make sure that nothing is missed when it comes to the investigation into Miguel’s condition. 6. Be proactive when dealing with your child’s medical team. The primary advocate of our child is us — his parents. So, we must act as the thread that holds everything together. I learned very early on that I have to ask many questions. I have to be persistent in getting answers. I don’t wait for them, I push his doctors to give them to me. I know I may have looked annoying to them, but it’s the least I can do for my child who can’t express himself or advocate for himself yet. Wouldn’t  you agree with me? 7. Don’t be afraid to ask for help from friends or relatives. This is where I’ve been struggling. I am a naturally independent person. I always tend to do things myself even if it means spreading myself thin. As a mother of four, my days are always busy and I realized that if I want to stay efficient, I have to ask for help. So, don’t be shy to ask for help. 8. Avoid comparing your child to others. This means not even comparing our child with other children who have microcephaly. From what I’ve read and personally experienced, each child is different. Each of them has different medical issues associated with their microcephaly. So, it is useless to compare my child to others. 9. Focus on your child’s own milestones. It is easy to fall into the trap of expecting our child to do things that other children with disabilities are already doing. For instance, I met a mom with a child the same age as Miguel and with the same medical condition. Her child started walking when he was 1.5 years old, while Miguel is barely crawling at the age of 2. If I let myself be envious of the other child’s development, I will be missing out on enjoying Miguel’s own milestones. 10. Spend time outside the house. One thing that can be challenging for some moms like me, is finding time for ourselves. I’ve learned I can get depressed when I don’t consciously schedule time getting out of the house. This is a lesson I learned only recently. So, spend time with your friends, husband or your other children. It can be rejuvenating. Take care of yourself. We are the primary caregivers of our children so if we get sick, who will take care of them? Eat healthy foods and have plenty of exercise. For me, I found an activity as simple as walking can make a big difference. 11. Join a community of moms who are in the same situation. This is also a lesson I learned just recently. I found several groups on Facebook for moms caring for children with disabilities. The first one I joined was the Microcephaly Support Group. Then there are: Parents of Children with Epilepsy, Hypotonia Parent Support Group, G Tube Babies, Children with Speech Delay Support, etc. You may also find groups in your own area which you can join for support. In my experience, I find that connecting with other moms who can understand exactly what I go through makes me feel stronger. I hope these lessons help you in caring for your precious little one. I’m sure we will have more lessons to learn as we go forward. Follow this journey at Miguel’s Life With Microcephaly. We want to hear your story. Become a Mighty contributor here . Getty image by julief514

    Love Over Fear: Caring for My Child in the Middle of the Night

    We’ve had some rough nights with Chiara, walking the hallway as we take turns to try and soothe her little body. Running baths at midnight to help her feel comfort when she can’t find calm. I mix medicine’s under soft lights and watch the clock tick over from 12 a.m. 2 a.m. 3 a.m. and more. I carry her body as she drapes over my arms, so delicate, fragile and full of mystery. I reposition her limbs and try to help her find that space of comfort where she can rest and heal, beyond the labels of her medical conditions. So thankful my husband is with me through these twilight testing hours. Through this haze of broken sleep, exhaustion and ongoing physical care, we keep choosing to love over fear. These tiny micro-milestones of choice in the long run turn out to create some of the biggest shifts of our life, one small midnight moment at a time. We want to hear your story. Become a Mighty contributor here .