I am humbled and honored to have the opportunity to speak and attend my first Global Genes RARE Patient Advocacy Summit in Huntington Beach this week! I have narrowed the breakout sessions I want to attend to about 18 (yikes!) Global Genes is a phenomenal rare disease advocacy group, and I'm so incredibly grateful that they extended this opportunity to be immersed in teaming, activism, drug development, and scientific innovation to me, Last year, almost 600 attendees representing over 170 rare diseases came together, and there will be even more this year!
The 2017 RARE Patient Advocacy Summit brings rare advocates from across the globe together to Connect, Collaborate, and Activate. This educational conference creates a space for members of the rare disease community to share best practices, create important introductions, and help catalyze powerful collaborations. Attendees share their experience, knowledge, and expertise as conference presenters and or participants
I will be presenting in a workshop on the topic of working with Physical and Occupational Therapists. We have had such an incredible team since Curren was 9 months old to draw knowledge from, and in just over 3 years we have had therapy in the home, clinical, and school settings. We have also navigated coverage of services through Early Intervention, Medicaid/CHIP, the Public School District, and Private Insurance. It has been a journey, and the commitment from Curren and our team is changing his life. I can't wait to share what we have learned on this path so far, and will share my summit experience when I return!
I often think back to the moment Curren was born, a 9 lb pink and cooing healthy baby. I remember the rush of relief when I saw his 10 fingers and 10 toes, his plump and beautiful face, and his perfectly round head. “Congratulations, he is healthy and normal” they said! I think back to the first few months of his life and how blissful and perfect it all felt. Curren was a happy, laid back baby who slept great and loved to snuggle; life was fantastic. My mind often went to dreams of the future. I saw visions of Curren chasing Weston in the backyard, of them darting out of their beds on Christmas morning to see their presents, of boogie boarding together at the beach, of the boys coming to our house at the holidays with their children/my grandchildren. It is heavy and devastating to give up on those picturesque visions. My grief is not in the mourning of a death, but sorrow for the devastation that has shattered my dreams. I am grieving the child that I lost, but that I still have.
What does my grief look like? It is the embarrassment after bystanders wanted to call 911 on my child who was having a sensory meltdown at the crowded reading of The Polar Express at Barnes and Noble. It is the shame felt watching someone ask Curren to clap or crawl for them like he is a dog being asked to perform on command. It is the pain left after a stranger questioned what was wrong with his legs on the first day out in his wheelchair. It is the desperation I feel after working a full time job and knowing I am coming home to another full time job of carrying, wiping, hand feeding, soothing, holding, teaching, loving, case managing, applying, appealing, and researching – all which may be necessary for decades longer or until my body can no longer do it. It is the anger burning inside in knowing that my son has important things to say, but that we have not yet found a way to make it so we understand him. It is the stinging sadness I swallow when parents complain about how they wished their child wouldn’t talk so much or how exhausted they are chasing after their baby who can now walk. But mostly, it is the guilt following the acknowledgement of embarrassment, shame, pain, desperation, anger or sadness.
Don’t mistake my grief for negativity. In fact, I feel more optimistic that ever about the future. My intense love and pride for my child is not in question, but the disability that has shattered my dreams is always stinging. The grieving never ends – there are no stages or moving on. I am, however, blessed to accept and embrace grief. Ironically, grief and hope seem to have a direct relationship for me. My grief inspires our journey, and it is the reason we do the things we do.
How do I stay hopeful and optimistic? I honestly don’t stray too far from the present. Life is precious, and what we have today, we may not tomorrow – and even if it’s not what we first dreamed of, it is still a tremendous gift. Curren is not able to chase Weston, but that doesn’t mean they don’t play in other beautiful ways. The excitement of Santa’s presents still happens, we’re just not barreling down the hallway on our own to see what is in the living room. We go the beach and have a blast (although it is exhausting). We work hard on the things that keep this grief burning, and will one day walk and communicate important things. My dreams are still here, they are just a variation of my first vision. The common theme to it all was laughter, happiness, and joy – and we definitely have that. Life is unexpected, unplanned, and beautiful.
We have been blessed to have the same incredible team of therapists working with Curren since he was 9 months old. This was first covered through Florida's Early Intervention program, Early Steps, which offers services to eligible infants and toddlers (birth to thirty-six months) with significant delays or a condition likely to result in a developmental delay. When Curren turned 3, we were able to get medical coverage through Florida’s Children’s Medical Services (CMS Title 21), a Children's Health Insurance Program (CHIP) plan for children with special health care needs, which continued to cover Curren's 9 hours of weekly PT, OT, and ST. Curren's CMS coverage was critical to maintaining his therapy services at Ability Plus, since our private insurance through Cigna will not cover his services there. We are devastated to share that this is Curren's last week at Ability Plus due to loss of coverage, and despite intense efforts to appeal, Curren will not be able to continue seeing the therapists that have worked with him for almost 3 years now. There is no program in the state of Florida to provide the medical and therapeutic services that medically complex kids need (and private insurance will not provide) once they turn 3 if their families are found financially ineligible. These programs are not only necessary for assisting families with financial need, but also imperative for allowing access to services needed during a critical time of development when left otherwise without access.
To our caring and loving speech therapist - you were the first friendly face we saw when we walked through the door at Ability Plus with our 9 month old squishy baby. You taught Curren how to eat, and before your help, he could not swallow without gagging, choking, and crying. He was struggling with failure to thrive, and you helped him succeed during a time when his GI doctor was recommending a feeding tube. I remember worrying about Curren having a cake to smash at his 1st birthday, in fear that he would choke and cry and scare everyone. But he learned to chew and swallow, and Curren's first birthday party was magical. You have taught Curren how to express himself in his own way, and he is so much happier in life because of that. You have taught me not settle on expectations, and that we should be shooting for the stars. Curren is much more capable than he is often given credit for. Thank you for your commitment and investment in my son.
To our incredibly talented occupational therapist - you have such a unique ability to push Curren to work hard, but still all the while making everything fun. When Curren was little, he loved getting big squeeze hugs from you. You taught him so much, and opened our eyes to the world of spio suits, listening therapy, therapeutic brushing, and joint compressions. You cared so much that you even attended hours of Curren's first IEP meeting, to advocate for his services in the public school district. He lights up at home when we say your name, and almost always claps or blows kisses. He certainly has a special place for you in his heart. You have taught Curren how to play, how to feed himself, how to drink from a cup, and how to point - all things easily taken for granted, but are incredible gains that took years of patience and dedication. Thank you for your passion and determination to open difficult doors for Curren.
To our phenomenal physical therapist - you have changed the game for Curren. When we started coming to Ability Plus for OT and ST, I saw the impressive PT gym, and knew this was where Curren needed to be. When he first started seeing you, he was incredibly static, but through your guidance has now gained the strength and confidence to roll, push, creep, pull, step, and move to get from here to there. You always went above and beyond to get Curren everything that could help him - from hand making his own thera-tog suit (since insurance wouldn't cover it), to personal aqua therapy sessions in our pool. You were tough, yet encouraging, and pulled every ounce of energy Curren had into training his body to move, and most recently, helped him to really "find his feet". Thank you for giving the gift of mobility to Curren. He will only be going onward and upward from here.
To our intensive physical therapists - thank you for your rigor and determination. Spending 3 hours a day every day for 3 weeks with Curren has really changed the way he senses and uses his body. These programs were gigantic jumpstarts to take Curren to the next level. We will be walking sooner thanks to you!
We wouldn't have been able to start on this path without the support from our amazing case manager at Early Steps. You listened to me, and helped me to get all the services Curren needed. We are blessed to have been under your care, and you made a bumpy and unsure road feel much less daunting. Thank you for making Curren's early years filled with the best possible opportunities for him to learn and grow.
This team has been on this journey with us from the very beginning, and has provided so much love and support to Curren, from the office staff to the therapists. It is incredibly difficult to think about saying goodbye. Thank you all for making a difference in Curren's life.
We have had two specialist appointments this week, and both have come back with abnormal findings. Yesterday, we saw a pediatric opthamologist, who discovered that Curren was mildly far-sighted with astigmatism. He was also diagnosed with esophoria, a condition where his eyes tend to move inward, especially if one eye is covered. This most likely results from his generalized low muscle tone, and it is not severe enough to require glasses (I can only image how unsucessful attempting to wear glasses would be at this time in life!). Today, Curren visited a cardiologist for the first time. His EKG resulted in "boderline" abnormal findings. They found that he has a polarization abnormality in the electrical charge just before his heart beats. He had a echocardiogram following these results, which made the cardiologist feel pretty certain there were no concerns at this time, which is fantastic news.
I am grateful that we so often receive "mildly" abnormal results, but it is a bit nerve racking to always have abnormal findings. EEGs, swallow studies, MRIs, growth parameters, metabolic testing - all of these things have come back abnormal, but not severely enough to warrant any action. It is now clear that abnormal has become the new normal. This is my son, he is not like any other, and I love every inch of his "unique" self.
We also had the amazing opportunity to be seen by genetics and neurology at Massachusetts General Hospital in Boston last week. Our experience was incredible, and we left with lots of optimism about Curren's potential, We also provided skin biopsies, for the potenial hope of doing stem cell research and creating patient derived cell lines for further study of HIVEP2 disorder. Another perk on the trip included the chance to meet one of our newest HIVEP2 families from Boston and the author of the first HIVEP2 paper for dinner. Our tiny universe is expanding, and I am so excited for what the near future holds.
The opportunity to experience Rare Disease Week in our nation's capital was more than I can describe in words. I was surrounded by families and patients walking the same walk and fighting many of the same battles. Some are still advocating even after the loss of a child, and many were patients themselves, dealing with life limiting/robbing condititions.
The week started at the NIH, where researchers, policymakers, and advocates shared recent developments that are further advancing rare disease treatments. In 2016 alone, the NIH Clinical Center involved over 15,300 rare disease patients in a clinical trial or natural history protocol. The NIH's focus on rare disease research is intentional - it is often very easy to asemble a cohort of patients with rare diseases. But even more promising, rare diseases often provide a window to common diseases. Shared during the NIH Rare Disease Day was this quote from William Harvey in 1657:
Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by careful investigation of cases of rarer forms of disease.
The stage was set Tuesday for our legislative meetings though our Rare Disease Legislative Conference, sponsored by Rare Disease Legislative Advocates, and culminated in Presendent Trump's address to congress, where he honored a student with a rare disease and promised a nation of "miracles" by slashing restraints at the FDA and across the government. And I was thrilled to see my representative Congressman Bill Posey wearing the blue demin rare disease ribbon that we gave him the week prior.
On Wednesday, 328 rare disease advocates participated in 270 Lobby Day meetings with US Senators, Congressmen, and staff. Advoates shared their personal stories, and asked that policymakers help the rare disease community (over 20 million Americans) with key issues. We asked for robust funding for the NIH and FDA, and to implement approapriations from the 21st Century Cures, which passes last year by 392-26 in the House and 94-5 in the Senate. We asked Congressman and Senators to support the OPEN ACT, which was pulled from 21st Century Cures at the last minute. The OPEN ACT would repurpose approved drugs for rare disease uses, and is estimated to double the number of drugs available to rare disease patients. This would have a significant imact on our community, as 95% of rare diseases have no FDA-approved treatment. And finally, we asked to ensure that rare diease patients don't lose access to affordable, life-saving heath insurance coverage in the upcoming policy changes.
I thank our Florida Congressmen, Senators, and staff for taking the time to meet with us and hear from the rare disease community. Thank you to Congressman Posey for honoring Rare Disease Day with your ribbon and for participating in the Rare Disease Congressional Caucus. And we are especially grateful to Congressman Darren Soto for commiting to co-sponsor the OPEN ACT after meeting with our group.
On Thursday, we visited the FDA White Oak campus to see Curren's Beyond the Diagnosis portrait, which has been on display along with 14 other paintings in honor of Rare Disease Day. We met with a wonderful woman from the office of Orphan Products Development and she shared the gallery with us. It was very overwhelming to see Curren's painting in person, and to experience the exhibit and the beautiful art created to honor these special children.
After the FDA trip, we headed back to D.C. for the Rare Disease Congressional Caucus briefing on the topic of advancing rare disease treatments in the era of cures and health care reform. This was a wonderful recap of all the critical issues we focused on throughout the week, and it's wonderful to see that over 100 Senators and Congressmen are members.
I left Washington D.C. feeling on top of the world, but in recent weeks I see that there is so much work to be done in the Rare Disease advocacy space. If you follow me on facebook, you may know that Curren has just lost his Children's Health Insurance Program (CHIP) coverage for medically complex children (CMS Title 21). If Medicaid is decentralized, block-granted, and/or per capita capped, it would be tragic for children with complex medical needs and developmental disabilities, as it covers nearly half of all children with special healthcare needs. There is not a private insurance plan currently available to me at this time that covers the therapy and equipment that my son needs. Additionally, it is very troubling to hear of the proposed cut of $6 billion dollars from NIH funding (almost 20% of the current budget). I hope that we are able to fund innovation to create a nation of "miracles" as referenced in the Joint Session on Rare Disease Day, and that we don't overlook our most vulnerable population of disabled and sick children in our years to come.
As I prepare for an incredible week in our nation's capitol - I can't help but get butterflies knowing that I am about to experience phenomenal opportunties to advocate for rare diseases at the National Institutes of Health, Capitol Hill, and the FDA. I am humbled to be able to meet with researchers, doctors, legislators, and scientists and share Curren's story along with other advocates from all over the country. While there are currently only 15 children known to have HIVEP2 disorder, one in 10 Americans battle a rare rare disease. We will be coming together as a community to share our voice on the critical issues our children face.
I would like to share some words from the Rare Disease Day website on this year's theme - research:
Imagine going to see your doctor only to be told that they don’t know what is happening to your body, that they don’t know what your disease is. Imagine that they can diagnose your disease but tell you that there is no cure or even treatment available. Or that the treatment available is not fully effective but just the best possible option. You don’t know how you or your loved one will manage life from one day to the next, nor how the disease will affect your work or school life.
Imagine what it would be like to live without answers to your most basic questions.
This is the reality for many rare disease patients. Research can lead to the identification of previously unknown diseases and can increase understanding of diseases. It can enable doctors to give a correct diagnosis and provides information to patients about their disease. It can lead to the development of new innovative treatments and in some cases a cure.
Research is key. It brings hope to the millions of people living with a rare disease across the world and their families.
Rare disease research is crucial to providing patients with the answers and solutions they need, whether it’s a treatment, cure or improved care.
On 28 February 2017, the tenth edition of Rare Disease Day will see thousands of people from all over the world come together to advocate for more research on rare diseases. Over the last few decades, funds dedicated to rare disease research have increased. But it can’t stop there.
Rare Disease Day 2017 is therefore an opportunity to call upon researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.
Rare disease patients and families, patient organisations, politicians, carers, medical professionals, researchers and industry will come together to raise awareness of rare diseases through thousands of events all over the world.
Rare Disease Day 2017 is also an opportunity to recognise the crucial role that patients play in research.
Patient involvement in research has resulted in more research, which is better targeted to the needs of patients. Patients no longer solely reap the benefits of research; they are empowered and valued partners from the beginning to the end of the research process.
Please join me in spreading the word for our HIVEP2 children and millions of others living with severe and lifelong conditions that have no treatments or cures. Alone we are rare, together we are strong!
My family is on a journey I didn't expect to take, and a foundation of hope has been my north star. Our journey can be inspiring but also many times daunting, and if we become hopeless we will lose our way. I would like to honor my son by sharing his brave journey.
Curren has been seen by 5 neurologists, 4 geneticists, a neurogeneticist, 2 developmental specialists, a GI specialist, an ENT specialist, 2 ophthalmologists, a orthopedist, 2 orthotists, a podiatrist, 2 psychologists, 2 pediatricians, 4 physical therapists, 2 occupational therapists, and 2 speech therapists - this has all been in the first 3 years of life. Beginning about 2 years ago, Curren ramped up therapy to 5 days a week, sometimes up to 4 hours in one day. He is a tough cookie, and he works very hard every day. Sometimes he forgets how to do the things he learns, but Curren never gives up.
Curren was born with a mutation in his HIVEP2 gene, but he was not diagnosed until he was 2 years old, after a long diagnostic journey. When reviewing his birth records, I noticed they recorded abnormal hypotonic behavior and muscular tone upon his first evaluation, but it was actually Curren's daycare that told me his muscle tone was not normal 4 months later. Between his low tone and difficulty with brain signaling, Curren has a very hard time controlling movement, especially in his legs. And although his muscles are strong enough to do it, Curren hasn't been able to crawl, pull up, or walk yet. He is, however, doing fantastic in his new wheelchair, and we are planning to get a mobile stander which supports Curren in a standing position but has wheels like a wheelchair so that he can move around and be at the level of his peers. Many people ask if Curren will ever walk, and it's a challenging question to answer. There is no way to know, but I have hope that he will.
We have been very blessed with good health over the past year, but that wasn't always the case. Curren was first sick when he was 4 weeks old, and was on antibiotics over 20 times during the first year and a half of life. He was diagnosed with reactive airway disorder at 4 months old, when he was in the hospital for respiratory distress. Curren also experienced a seizure and metabolic crisis event when he was two. Many of the other children with HIVEP2 disorder experience GI issues, but the only problem we have experienced is a failure to thrive diagnosis based on Curren's slow growth. We are also very fortunate so far to have good reports from the ophthalmologist, as eye problem are common for our community.
Perhaps one of the most challenging aspects of HIVEP2 disorder is the developmental disabilities. Like many others, Curren was diagnosed with autism, although he is actually very motivated by social experiences. The features of autism that Curren displays are regressions, language disorder, sensory integration disorder, and obsessive compulsive disorder. Curren is non-verbal, and it is so difficult for a child who has so much to say to not be able to say any of it. He understands what it going on around him, and he has intent for his legs, hands, and mouth to do certain things, but the message seems to get scrambled and the action doesn't happen the way it should. Lately, I ask Curren to touch his head (which is actually very challenging for him since he can't see it) and he starts clapping. I can tell from the look on his face that he is not thinking about clapping and is confused why his hands aren't touching his head, but the directions from his brain don't seem to be delivering the right message. I see this also in his speech. Once when we were in the hospital, and he was over it. He said clear as day "all done", but hasn't said it again in over a year. I can't imagine the frustration to have this disconnect between your brain and your body, but my son handles it incredibly.
On this journey, we have seen such kindness and compassion. It is so heartwarming to see Curren's fans, rooting for him to not give up. Curren has an exceptional team of professionals caring for him and looking for answers. We are eternally grateful to the doctors and therapists that are making a difference in Curren's life. It is not always an easy journey, but the people that support Curren do make hope feel more grounded. I am also so very proud of my son for the tremendous effort that he puts forth, and for his beautiful spirit that has not been subdued. I have hope for the future and what it holds!
At this time last year, my friend Heather and I had each other, and that was it. Heather's daughter was the 2nd and Curren was the 4th child in the world to be diagnosed with HIVEP2 disorder. We were searching for a community, and didn't know if we would ever find others. Then something very exciting happened - we found 3 families last summer that shared our children's rare diagnosis. Fast forward to last week, and our community suddenly grew from 5 to 7. There are also others that have been published in medical literature, we just haven't been able to find them yet. These numbers bring the total to 14 known cases of HIVEP2 disorder.
While there are only 14 of us, there are over 7000 known rare diseases, all with small populations. This presents a great challenge - there are literally thousands of diseases with little or no resources, leaving millions of Americans with little hope for management or treatment options. There are actually more Americans battling a rare disease than all of those with HIV, heart disease, and stroke combined. And over 80% of rare diseases are genetic in nature, which means they are often lifelong conditions. How can we help support these people?
We will celebrate international rare disease day on February 28th. There are many ways to show support, and you can find those on the US Rare Disease Day website and on the Global Genes website. To more directly support Curren and our HIVEP2 community, we are selling Hope for HIVEP2 shirts to raise money for research opportunities. There are also two other organizations that have directly supported Curren, as well as so many other in the rare disease community. The Rare Disease United Foundation runs an incredible program called Beyond the Diagnosis, where master artists from around the world donate their time and talent to paint children with rare diseases. The portraits travel around the country to various institutesto raise awareness, and the goal is to put a face to all 7,000 known rare diseases. Curren's breathtaking watercolor will be on display this year at the FDA to raise awareness for HIVEP2 disorder on Rare Disease Day! I will be taking a trip to DC during the last week of February to see his portrait for the first time in person, and will also be attending the NIH Rare Disease Day to learn more about NIH-supported rare diseases research and the Rare Disease Legislative Advocates Rare Disease Week on Capitol Hill to share our voice with legislators. This trip was made available to me through the Everylife Foundation, and I am so grateful for their commitment to the rare disease community.
I hope you will help us share our voice this year for the 2017 International Rare Disease Day! A rising tide lifts all boats, and we all deserve a chance to sail.
I have been honored with an incredible opportunity - to represent the rare disease community in Washington DC during the 2017 Rare Disease Week on Capitol Hill. Hosted by Rare Disease Legislative Advocates, hundreds of rare disease community members from across the country will join together to learn about federal legislative issues, meet other advocates, and share their unique stories with legislators. I am thrilled to be participating in this series of events, and very excited to share Curren's voice (and many others, too!) with our Congressmen and Senators. My goal is to raise legislative awareness for the needs of the rare disease community, and address roadblocks in the development and access of critical treatment and management options. There are three specific issues that I will be focusing on during my trip, which not only impact the rare disease community, but also much of the general American population.
The first critical issue is the lack of treatment and management options. At three years old, Curren has seen over 20 doctors, and none of them have been able to prescribe any type of medication or treatment that has helped to manage any of Curren's symptoms. In fact, many of his symptoms are getting worse over time. This is not uncommon in the rare disease community. Statistics show that there are over 7000 rare diseases and less than 500 FDA-approved treatments for those rare diseases - that leaves 93% of rare diseases with no treatment or management options. Sadly, many rare diseases are terminal, and 30% of patients die before their 5th birthday, This skews the patient population so that over half of those battling rare diseases are children, There needs to be a stronger emphasis on orphan drug expansion, increasing FDA funding, and modernizing clinical trials to help those who are running out of time.
The second critical issue is healthcare policy. Up until last year, Curren was on private insurance through my employer, During that time, we were denied coverage for speech therapy (for a completely non-verbal child), physical therapy (for a non-ambulatory child), occupation therapy (for a child who cannot feed himself), ABA therapy (for a child with autism), B12 and folinic acid supplements (because they aren't FDA approved), spio compression suits (because of medical coding issues), and whole exome sequencing (because it wasn't "medically necessary"). That's right - Curren's genetic test that actually provided his diagnosis was found to be not medically necessary, even after appeal, and was not covered under private insurance. This decision was on the premise that the small chance of "meaningful" information resulting was not worth the cost, and regardless should not change his plan of care. I do beg to differ. Now we know that Curren has a lifelong disease that is due to a mutation in a gene, he will not "grow out of it" as some doctors said early on, and it absolutely does change his plan of care.
This past year, Curren was eligible for a state CHIP insurance program for medically complex children, and it has been a tremendous blessing, This program has covered all the therapies, adaptive equipment, and appointments that private insurance didn't. Because of our CHIP coverage, Curren has been able to go to the best pediatric rehabilitation facility in our county, get a wheelchair, see multiple specialists, get on a waiting list for ABA therapy, and much more, I am concerned that whether public or private, children with profound medical conditions and disabilities do not have access to the therapies and early interventions that will allow them to be their personal best in life. I know that healthcare is a very politically charged issue right now, and I don't want to get into politics in this post. I do, however, feel that whether conservative or liberal, we have a duty to protect our most vulnerable and maintain a system that allows children with or without complex needs the opportunity to thrive.
My last critical issue is one that really applies to us all, and that is one of advancing research. Where would we be without science? W. Edwards Deming once said, "without data you're just another person with an opinion." Whether in my professional life as an architect, or in a personal capacity as an advocate, data is needed to create a defendable foundation. Now more than ever, we should be removing barriers to increase research collaboration and investing in 21st century science, I have to say, I was not happy to see potential FDA commissioner Joseph Gulfos's position in his recent op ed, stating that he wants to see more research funding shifted to supporting treatments for obesity, diabetes, and cardiovascular disease, and away from rare diseases. I would first like to point out that rare disease research helps us understand medicine for all diseases. One of many examples being this story of a rare lysosomal storage disorder informing therapeutic targets for Parkinson's disease. Secondly (and selfishly), I am a bit offended about the idea that we would give up on diseases that primarily affect children that have no treatment or management options to focus on often lifestyle-related conditions that already have FDA-approved treatments. I am not trying to stir controversy, but I would be thrilled to have an option of surgery or medication or medical device or dietary change that would improve my son's quality of life - but unfortunately none of these are an option to me. I will be a squeaky wheel, as Joseph Gulfo points out, until my son has options available to him to make his life better. To give him the opportunity to speak words (and anyone that knows Curren, knows he has a multitude of words to say) . To give him the opportunity to walk (or run, or chase his brother), To give him to them opportunity to not be a "failure to thrive".
Please stand with us on February 28th, to show solidarity for the rare community. Alone we are rare, but together we are strong.
From Autism Spectrum News - Winter 2017 Issue
By Emily Singer
By the time her son Curren was 3 months old, Nerissa Ramsey knew there was something different about him. He had low muscle tone and flapped his hands. Hand-flapping is a repetitive behavior commonly seen in autism.
After consulting with a series of specialists, the Ramsey family was referred to a geneticist. The standard test for developmental delay — chromosomal microarray analysis— looked normal. So did other genetic tests the doctor ordered over the next year and half.
Curren, meanwhile, began to regress. He lost the handful of words he had begun to use at 12 months. He also stopped using the signs he had learned for “more” and “eat.”
When Curren turned two, the Ramseys decided it was time to try whole exome sequencing. This is a genetic test in which scientists decode the portion of the genome that corresponds to proteins. Exome sequencing is often used in genetic research. But it is still fairly new as a tool for clinical diagnosis.
Few families with an autism diagnosis will be referred to a clinical geneticist. Fewer still will be offered exome sequencing. Curren’s severe symptoms and negative results on other tests made him a good candidate.
Four months after submitting their son’s DNA sample, the Ramseys finally got the answer they had been searching for. Curren had a mutation in a gene known as HIVEP2. This gene is involved in brain development.
The condition is incredibly rare. When Curren was diagnosed, only three other children with mutations in HIVEP2 had been reported in the scientific literature. All of them had developmental delay, intellectual disability and muscle weakness.
Scientists know little about the effects of the mutation. And no treatments exist for HIVEP2 mutations. But the diagnosis was a relief to the family. Nerissa said that just knowing about three other children with the same genetic condition was helpful.
The family’s geneticist was optimistic when delivering the results. She noted that all three children eventually learned to walk and talk, meaning that Curren might one day as well. “That helped a lot,” Nerissa said.
The diagnosis also gave the boy broader access to certain tests and treatment programs. “If you can put a name or reason behind what is going on with your child, it opens so many more doors,” Nerissa said.
A Growing Network
As soon as the family learned of Curren’s mutation, Nerissa reached out for help. She blogged (http://nerissaramsey. weebly.com/) about the diagnosis and asked friends and family to share the post. She began researching the gene. She wanted to understand its biology and how the mutation worked.
In April 2016, a new paper on HIVEP2 popped up (https://www.ncbi.nlm.nih. gov/pubmed/27003583). It described six additional children with mutations in HIVEP2, including Curren. (The Ramseys had given their geneticist permission to publish his information.)
Nerissa was thrilled to learn about the additional families with the same disorder. And she reached out to the study’s senior author, Dr. Wendy Chung. Chung is a clinical geneticist and scientist who leads SPARK (https://sparkforautism.org/portal/ page/meet-the-staff/).
At Chung’s suggestion, Nerissa enrolled in the Simons Variation in Individuals Project (VIP) (https://simonsvipconnect.org/). This is an online community that supports families with rare genetic changes linked to autism and developmental delay.
Through the VIP, Nerissa and Chung set up a virtual conference for HIVEP2 families, which took place in December 2016.
Connecting with other families has been extremely helpful. “When dealing with such an ultra-rare diagnosis, most doctors have never heard of it and are not that interested in learning more about it,” Nerissa said. “The family community is probably the strongest resource we have, short of Dr. Chung, who has taken us under her wing.”
Nerissa and some of the other parents formed a family support group. “So far, three families found me through social media and my blog, outside of the families that have currently been published,” Nerissa said.
Most of the children in the group are older than Curren. So the Ramseys can learn from them about what to expect. For example, more than half of the children in the group have severe vision problems. “So I am monitoring Curren’s vision and taking him to see an ophthalmologist more often than I would have, had I not had that information,” Nerissa said.
SPARK hopes to provide other people with autism and their families with a similar chance to learn about genetics and connect with other families. People who enroll in the project will have the chance to have their exome sequenced.
However, SPARK’s genetic analysis differs from that of commercial sequencing services, such as the company that analyzed Curren’s exome. SPARK is starting by focusing on a fairly narrow set of genes — including HIVEP2 — and mutations. The ones the project is looking at have strong evidence of a link to autism. These genes have been identified in multiple studies, all in more than one family.
One of SPARK’s goals is to aid in the discovery of additional autism-linked genes and then add those genes to the list of results to return to families who wish to see them.
Chung cautions that not everyone who has his or her exome analyzed will get an answer to the cause of autism in their family. SPARK scientists estimate that sequencing will detect an autism-linked mutation in roughly 10 to 15 percent of participants.
In the meantime, SPARK provides many other chances to participate in important research that will enhance the understanding of autism. Indeed, Chung’s goal for SPARK is to create a community where researchers and families can connect in useful ways.
“This is about trying to make the process more efficient and more inclusive, so that people who have historically been left out of the research process can become involved,” Chung said.
For the Ramseys, getting a genetic diagnosis and connecting with other families has had a powerful impact. “My ultimate goal is to accelerate research,” Nerissa said. “If you can find a community, whether it’s two or three families or thousands of people with the same diagnosis, there is strength in numbers.”
Today we simply don’t know enough about autism. SPARK—a landmark autism research project—aims to make important progress possible. SPARK stands for “Simons Foundation Powering Autism Research for Knowledge,” and the mission is simple: we want to speed up research and advance our understanding of autism to help improve lives. If you or your child has a professional diagnosis of autism spectrum disorder, learn more about SPARK by visiting https://sparkforautism.org/.
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.