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/.
And just like that, 2016 is drawing to a close. It has been a dynamic year of juxtapositions, with so many exciting new developments for Curren. It is also hard not to feel bittersweet, as I reflect on my hopes as we started the year. Would this be the year Curren starts to walk? Will he say a "first" word again, and keep it? I could not be more proud of the solid progress Curren is making developmentally, but it stings as reality sets in and the window for these milestones appears to be closing. Sometimes life feels like it is flying by and we are trying to just find a stable footing in the dust in order to take the next step. But it does not matter how slowly you go, as long as you do not stop.
We have had many beautiful moments this year. Curren started using a wheelchair, and it has given him his first real sense of independence. He has now mastered moving forward, now we just need to work on turning! We transitioned into a 3-day exceptional education public school program and are so thrilled with the learning opportunities and care that Curren is receiving. We also traveled to Baltimore and New York to meet with experts and have made wonderful connections through that process. As a result, Curren was featured in the Wall Street Journal in a story about Dr Chung, and we organized our first HIVEP2 virtual family conference, with 5 families and many researchers and clinicians in attendence. There are many new opportunities on the horizon and the future is looking very bright.
I think the most difficult aspect of this past year really boils down to one issue - the challenge of communication with a non-verbal child. Any other problem is just compounded when we are not able to understand what Curren is trying to tell us. Last night, Curren cried for hours before he finally fell asleep and there was no way for me to understand what was wrong, what was hurting, or what he was feeling. At times, the lack of effective communication can be heartbreaking. Bigger still, is the task of maintaining an almost irrational faith in society; that my son's vulnerability will not be taken advantage of when I am not there to protect him,
Not being able to rely on verbal communication opens the door to many other meaningful nuances that would most likely be otherwise overlooked. Curren has developed a range of inflection that is a language of it's own. He speaks more like a song bird, with changes in pitch and tempo to indicate different emotions, Curren has also become very good at mimicking and echoing intonation and cadence. It is his way of engaging people. Because he can't yet verbally communicate, Curren relies on his charm to draw attention, and he is developing quite a repertoire of interactions. Without words, we are forced to read more into body language and expression, and it is so much more powerful than words. Five pats on the back means "I love you", a dramatic shake of the head actually means "I really like this" instead of no, and a crooked smile to the right means "I am proud of what I did". It is a beautifully meaningful way of communicating.
One of my favorite movie characters said, “Do you know whatcha gotta do, when life gets you down? Just keep swimming, just keep swimming.” (thank you Dory and Ellen)! Whether you are feeling lost in unfamiliar territory, fighting battles that seem unbearable, or struggling in a rut and you feel you can’t overcome - these are words that symbolize what it means to truly persevere to the end. Moving into 2017, there is so much to be excited about, but when the challenges come, we will “just keep swimming, just keep swimming”. Happy New Year to everyone!
So I am weeks late with this post, but a lot has happened in the past month - a new president-elect, a new baby nephew, the thanksgiving holiday, and the first HIVEP2 family conference (more on that later!). But on November 8th, our incredible doctor in New York was featured in the Wall Street Journal. As part of the article, Curren and HIVEP disorder were mentioned! Dr Chung has provided motivation for me to continue to fight for Curren and HIVEP2 advocacy. Between the research opportunities and family conferences, we have so many more resources available to us than what you would expect for a community of only twelve patients. Rare disease patients can often feel isolated, but the opportunities that Dr Chung provides our community gives me hope for the future, and they have the potential to change my son's trajectory in life. We are so honored and blessed to be under Dr Chung and her team's care, and are beyond thrilled to have HIVEP2 mentioned in a national newspaper.
From the Wall Street Journal on November 8th, 2016, "The Doctors who Solve Medical Mysteries":
Our HIVEP2 community also had our first virtual family conference this past week, and it was so encouraging to connect with these families and researchers. I cannot say enough amazing things about the Simons VIP project and the work they are doing to further advance our understanding of the genetic components underlying autism and developmental disabilities. We can't wait to see how our community will grow in 2017.
In other exciting news, the revised 21st Century Cures Act passed by a sweeping 392-26 vote in the House of Representatives last week! While not everything that would have hugely benefited the rare disease community was included (such as the OPEN Act, additional resources for developing natural history registries for rare diseases, and more robust funding for the NIH and FDA), the revised bill is still a great step forward for the development of therapies for rare diseases. The White House is urging the Senate to promptly pass this bill so that the President can sign it before the end of the year. Thank you all for the support I receiving following my last blog post on the 21st Century Cures Act.
Most exciting of all, Curren has been getting used to his new wheelchair over the past month. Within the past few days, it has all come together and he is able to push his chair all by himself. This is short of incredible, as many things that most find easy can be incredibly challenging for Curren. After 3 years, my little guy is finally able to move around without relying on others, and it is the greatest feeling in the world!
With the holidays coming up around the corner, we have been talking a lot about Christmas lists. My 7 year old son Weston already knows precisely what he wants: a play station, a bow and arrow, and some magic tricks. Since Curren isn‘t yet able to talk, I told Weston he has the important task of coming up with the perfect list for Curren, and telling Santa what his brother wants. We have been running through lots of ideas, but what do you get a sweet 3-year old with a rare neurodevelopmental disorder who would rather high-five everyone in the room than play with toys? There are tons of therapy tools and adaptive equipment that would be helpful for Curren, but that’s really not all that fun for a little guy that already does 9 hours of therapy every week. I asked Weston what he thought the one thing in the world his brother would want for Christmas more than anything else would be, and his answer was difficult - he would want to walk and talk and play with friends.
That really would be the ultimate gift, but how in the world do we get there? The majority of my time and thoughts have been consumed with this idea for over a year now. It’s the reason for the trips to New York and Baltimore, for my husband leaving his job, for the challenging gluten-free diary-free diet, for the midnight googling and worrying, for the pubmed alerts, for the intensive therapies, for the B12 injections - all for the hope that we stumble upon a doctor or researcher or therapy than can level the playing field a bit more and help Curren to achieve his personal best in life. How do we get more research, better management, more treatments, and eventually a cure?
We are not the only family. It is estimated that over 30 million Americans are battling a rare disease today, and half of those affected are children. Of those children, 30% will not live to their 5th birthday. Over half of all rare diseases don’t have a specific foundation supporting or researching their condition (including Curren's condition, HIVEP2 disorder). How do we get cures now?
There is hope today for the future. For my family and millions of others, it is found in the 21st Century Cures Act, which passed 343-77 in the House of Representatives last year, but has not yet passed through the Senate. Chairman Fred Upton (R-Michigan) calls the landmark innovative effort a “once-in-a-generation, transformational opportunity to change the way we treat disease.” Senate Majority Leader Mitch McConnell (R-Kentucky) said that the bill “could end up being the most significant piece of legislation we pass in the whole Congress." This act would not only benefit the rare disease community, but "could really change the face of cancer" according to Jon Retzlaff, managing director of science policy and government relations at the American Association for Cancer Research.
If the 21st Century Cures Act passes, what would it mean for Curren, for others living with a rare disease, and for those battling cancer? it will accelerate the discovery, development, and delivery of life saving and life improving therapies, and transform the quest for faster cures. This will be achieved by removing barriers for research collaboration, by incorporating the patient perspective into the drug development and regulatory review process, by measuring success and identifying diseases earlier through personalized medicine, by providing new incentives for the development of drugs for rare diseases, and by investing in 21st century science and next generation investigators - all while keeping and creating jobs here in the United States. This act could double the number of therapies available for rare disease patients.
This bipartisan act has been years in the making and is supported by hundreds of groups across the patient and research spectrum., but is in danger of not becoming law. There is word that some in Congress are attempting to remove substantial portions of the bill, including the Open Act, which would effectively kill the bill in Congress. A delay in legislation is a delay in life-saving treatment for patients.
If you feel so inclined, please help us make cures a reality for Curren and millions of others! The #CuresNOW page provides many easy ways to promote the 21st Century Cures Act. Please help all those who want nothing more than cures for their loved ones this holiday!
After waiting almost 6 months, we finally have Curren's custom wheelchair. I have to say I have been preparing myself for this moment for a while and anticipated this to be pretty difficult, but instead the arrival of Curren's wheelchair has been completely incredible! His new little ride is so customized just for him. They made a special frame for him where the wheels are actually closer to the front so he can reach them better, The frame is lightweight aluminum for easier mobility, and the rims are carbon fiber mags with only five spokes and a guard to help keep his fingers from accidentally going in the wheels. He's got adult armrests because the kid ones are really small. And it looks incredible - it's lime green with electric blue wheel castors and front wheels that light up! But best of all, Curren loves his new wheelchair and it is going to open up a whole new world for him!
Along with this awesome new setup comes something even more moving than the wheelchair, Although my grandpa is no longer with us, his spirit and memories will be with us everyday now. We are blessed and honored to now have my grandpa's wheelchair accessible van, where we can just push Curren up a small ramp and lock the wheelchair down into the floor tracks in the van, His wheelchair even has a five-point harness system to keep him safe during vehicle transport. My heart is so happy for all of our new wheels and the opportunities the wheelchair and the van will bring to Curren, Here's to many new adventures!
My grandfather was a rock for many people, and his contributions to his family, his businesses, and his community are inspiring. In looking over his lifelong accomplishments, it is hard to fathom that so many achievements came from one man with a soft voice and a big heart. But my Paw Paw was a doer, and he never let a free moment go wasted. Dressed in his blue and white striped collared shirt, he would seize the day, finding pleasure in tackling problems and discovering new ways to get a job done. Both his head and his heart were fully committed to this life, and that force could move mountains.
My grandparents were high school sweethearts, but they weren’t your typical fling. While my grandpa was voted “biggest flirt” and often found opportunities outside the school walls calling his name, my grandma was class valedictorian and voted “most friendly”. In my grandma’s yearbook, his message was simple: “to my best and sweetest girl, and pretty soon my wife.” And so following graduation they married, and my grandpa then spent several years on an Air Force base out west. After they moved back to Florida, it didn’t take long to reach a full house. When the twins were born, the Thompson family had 4 children under the age of 5 years old. From old pictures, it’s very clear that family was important and the Thompson’s went on many adventures. Though the generations and over the years, the message has stayed the same - a strong family is perhaps the greatest gift in life. As a father, a grandfather, and a great-grandfather, Rodney always took the time to be there for his family.
From the beginning of his life, my grandfather was always innovative and entrepreneurial. He was a paper boy, a watermelon peddler, and a bait shop manager in his younger years. To change up the pace, he started racing speed boats in the 1960’s. He took the light-weight fiberglass construction utilized in the catamaran style race boats and applied it to commercial fishing boats, first constructing the T-craft, then the Thompson Trawler, and culminating his boat-building career with the world’s largest fiberglass trawler at 90’. Stepping into a new industry, my grandpa next tried his hand at the restaurant industry, starting with Sandpoint Inn and later Dixie Crossroads. He figured out how to efficiently split rock shrimp, and featured the new delicacy in his restaurants. He operated a large seafood processing facility to support the restaurant, Cape Canaveral Seafood Company , and opened two public seafood markets called Wild Ocean in Titusville and Port Canaveral. His impressive career as an entrepreneur in the fishing, boating, and seafood industry spanned over 60 years, and touched the lives of so many.
Not only was my grandpa a business man and a family man, but he also had a huge heart and always thought to help others in need. Every thanksgiving, he opened his restaurant up to hundreds of people that had no other place to go and provided a free hot meal. I remember one summer we had significant wildfires in central Florida, and he brought food and drinks to all the firefighters every day that they worked. He built the wooden track for the first Ducksville Derby at the Indian River Festival. Through the years, he sponsored various fundraisers for the local high school choir groups, tennis teams, grad nights, and teacher of the year celebrations. He also sponsored funding for several individuals in the community trying to recover from illness. He raised money for the National Park Service to purchase two ATVs for the rangers at Playalinda to monitor nesting sea turtles. The park superintendent said, “When you’re in the trenches and need help, Rodney is the man who always comes forward.”
My grandpa was a man that was there for everyone, and I have heard many say he was like a father to them. We are all so lucky to have been blessed with his love. I’d now like to share some of my favorite personal memories of my grandfather. I remember trips to Disney World with the grandkids in the big blue van with the seat laid back like a bed so that we could all crash on the way home. My grandpa loved the mermaid show at Weeki Wachee, and I remember sitting on his shoulders to get the best view of the show. He took his family to New Smyrna Beach every summer, and while the grandkids would play on the beach, he would slip back into town and work all day. He would sneak back in at the end of the day as the sun was setting, and then take us ghost crab hunting on the beach with flashlights.
He also allowed me to help with his businesses. He named a boat after Cherisse and I (the Cherissa) and let us toddlers help christen the boat. When I was 7 years old, I started helping around the restaurant with rolling silverware, cleaning the pond, cleaning shrimp, and wrapping potatoes in foil. If I remember correctly, I believe the going rate for potatoes was $2 per box, so I learned young that if I worked fast I had the potential to buy quite a bit of gum balls. I started working the drive-thru window with Karen and Judy full time during the summers when I was 14, and saved my money for 3 summers to buy my first car. My grandpa reminded me I needed money left over to pay for insurance and gas, so I could only spend about 2/3rd of what I earned. That landed me an ’88 Nissan Sentra stick shift, which had about 75 horsepower and actually decelerated while driving over the causeway. My grandpa was the one that taught me how to drive it. After I graduated from high school, I decided to pursue architecture at the University of Florida and my grandpa was my biggest supporter. I’m sure he wanted me to stay in town and continue working in the family business, but he never once made me feel that way. He was thrilled at the idea that I could “hang out my shingle” and run my own business one day. I came home to work at the restaurant the summer after my freshman year, and that was where I met my husband, Barry. I was a waitress and he was a busboy, 15 years ago. Every summer I would come home from college and work at Dixie Crossroads or Wild Ocean. My last summer of grad school, I stayed at my grandparents’ house for the summer while working in Titusville and it was honestly the best summer of my life. I loved having the opportunity to visit with my grandparents every day and I felt like I had them all to myself.
I learned so much from my grandpa, and his example shaped my outlook on life. I have learned from him that if there’s a will, there’s a way. It doesn’t matter the hand you are dealt or the tools that you have. You can come from nothing and have everything if you have determination and drive. In 2nd grade, I remember a class assignment where we were to characterize a person of importance with one word. I chose my grandpa, and I have to admit that my mom helped me with this one, but the word I chose was perseverance. Here we are 30 years later and I can’t think of a better word to characterize my grandpa. He never gave up, and a failure never slowed him down. He kept trying until he got it right. The last years of my grandpa’s life must have been difficult for him, as his body slowed him down and he was no longer able to be a doer. I believe that he is now reunited with his mom and dad, his son Tim, and Mr Cat and Miss Kitty. I can see him in his blue and white striped collared shirt, walking again, and getting back to work on the next project. It is a beautiful picture.
My son Curren has magical blue eyes and beautiful red hair, which happens to be the rarest eye and hair color combination in the world. But making him even more rare is the genetic disorder he has been diagnosed with. While the numbers have grown since last year's diagnosis, he is currently only one of twelve know in the world with a disease-causing mutation in a gene called HIVEP2. There are not many resources available at this time, and the current management approach is to treat the symptoms, which often include intellectual disability, autism, seizures, sleep disorders, vision problems, speech delays, movement disorders, and developmental regressions.
It has now been a year since Curren's diagnosis - a year filled with soaring highs and defeating lows. Managing a life-altering diagnosis has been overwhelming, and has brought about some striking juxtapositions. I have somehow become both stronger and more fragile at the same time. We have developed an amazing support network of therapists, teachers, and case managers, and yet somehow we feel increasingly isolated. I find myself outwardly expressing a steadfast optimism, but internally I have felt unease since the day of the diagnosis and every day since. I question what more can I do with the waking hours I have, and when will it be too late to make a difference? It is a heavy weight to carry, and the uncertainty of not knowing whether there may be a potential treatment that would improve my son's quality of life if ever available is heart crushing.
As we have navigated this past year, I keep searching for places where there are more children like Curren, and surprisingly, we keep coming up short. At the early intervention center, Curren was the only child in the program who couldn't walk. He is one of the only non-verbal children in his new special needs preschool, and there are no other children in wheelchairs. Some of the specialists we see just toss their hands up with no recommendations and say "see you again in 6 months". Not only is Curren developmentally delayed, but his physical appearance and size is much more like that of a young toddler, so strangers usually refer to him as a baby and are flabbergasted if I tell them he is three. And that leads to perhaps my biggest worry. Curren is a very social child, and he adores interaction with others. He works so diligently to get people's attention and to get them to smile and wave to him. It incredibly charming right now, because he is perceived as a bubbly little baby with a contagious grin. But how will the world treat him when he is 7, 16, or 30 years old and no longer a cute small child? Curren has differences in his brain which cause him to take him longer to react and respond to people, but his intent is there. Will he be left in the dust in this world as our society becomes more impatient and focused on instant gratification?
Through the challenges, a new perspective arises, and it is clear that being a caretaker and an advocate for a child with special needs brings life to a whole new level of richness and beautiful complexity. The emotion that is felt when hearing your child's sweet voice say "mama" after 2 years of trying is indescribable. Watching your son break down in frustration every day for weeks upon weeks makes that giant belly laugh seem like the bees knees. The dark does not destroy the light, rather it defines it. Life is enriched by difficulty, and I am honored to be chosen for this journey.
Tomorrow my blog will be 1 year old, how exciting is that? I started this blog searching for answers, and ironically we received a diagnosis within the first month. But moving from the past and on to the present - we have been involved in so many new and amazing things over the past 6 weeks. It's hard to believe we have jam packed all this excitement in such a short period of time. Curren went to New York to see our new incredible doctor who is actively researching HIVEP2, he was on national television as part of the Beyond the Diagnosis art exhibit, he completed a 3-week intensive therapy program sponsored by the Cove Merchants Association from the Canaveral Mac Attack tournament, he turned 3 years old, and he started an early exceptional learning program at a local public school. We are all pooped, but this is a marathon and not a sprint - so we keep on going!
Our trip to New York was wonderful. We stayed in a small beach town in New Jersey with good friends for a few days, and our friends Ryann and Heather came into town and met us (Ryann has the same diagnosis as Curren). We went into the city for Curren's appointment at New York Presbyterian Children's Hospital, and visited the Guggenheim, the Cooper Hewitt, Central Park, and the Seaglass Carousel at Battery Park. The appointment with Dr Chung and her team was wonderful, and we are working together to plan a virtual family conference for all the families with a HIVEP2 diagnosis.
Once we got home from our trip, we found out that Curren was going to be included in a nationally televised program on a traveling art installation call Beyond the Diagnosis. We are so honored to be included in the collection and to help put a face on rare disease. Curren's portrait was completed just before the program aired, so his painting wasn't included in the segment, but he had a little photo cameo at the introduction to the story. Curren's painting is an incredible watercolor that beautifully captures his essence, and it is possibly one of the kindest gifts anyone could give us! His artist is a very accomplished retired neuroscientist in England. We have also already been contacted by a genetics professor who saw the exhibit, and her students will be doing a project on HIVEP2 and interviewing us! We can't wait to see where Curren's portrait travels and how his painting will raise awareness for HIVEP2 disorder and rare diseases.
Curren had the opportunity to complete a 3-week intensive physical therapy program at Ability Plus using a therasuit compression body orthosis, thanks to the proceeds from the Canaveral Mac Attack and the Cove Merchants Association. He went to therapy from 9:00-12:00 every day for 3 weeks. The therasuit helps to stabilize movement, improves body awareness, provides dynamic correction, and supports weak muscles. When used intensively, it accelerates gross and fine motor skill development. We saw a huge improvement in Curren's mobility, strength, and coordination throughout the program. I feel that he accomplished in 3 weeks what would typically take him 3-4 months. The biggest improvement is that Curren is initiating steps now (with upper body support). His lower body has always been much weaker that his upper body and it wonderful to see those feet starting to work! It wasn't easy to do that much physical therapy every day, and we are so proud of Curren for sticking it out and making it all the way through each day!
Curren also had a birthday last month. We had a sweet puppy party, and there were 4 dogs in attendance. We also went to Animal Kingdom to celebrate.
Since Curren turned three last month, he aged out of Space Coast Early Steps (so sad!) and started an early exceptional learning program at a local public school. He attends school 3 days a week, and will continue to go to Ability Plus for PT, OT, and ST the other 2 days. I have been nervous about this transition for over a year, so you can imagine my relief when we realized his teacher and assistant are so kind and caring and very experienced. Curren will also get PT, OT, and ST at school, as well as adaptive PE, aqua therapy in an indoor heated pool, circle time, and more. We are so excited for Curren to get this much enrichment throughout the week and look forward to watching him learn and grow in this environment!
We have had such a busy and incredible summer. So busy in fact, that I did not create one post on this blog! It’s hard to believe that Weston is starting school this week and the summer is over. So in these last few moments, we will be soaking in the sun and the fun, and reflecting on this fantastic summer. Here are some of the highlights:
We attended the 18th Family Café Conference and Governor’s Summit on Disabilities in Orlando, and what a wealth of resources and connections for Florida families! My incredible family and friends came over and helped us cover all the great informational sessions that were happening simultaneously (these ranged from disability scholarships, assisted mobility, iOS accessibility features, tax benefits, IEPs, advocacy, and so much more). We heard a panel addressing Florida’s forward momentum for disability support, led by Governor Rick Scott, State Senate Majority Leader Bill Galcano, the Agency for Persons with Disabilities, the Florida Department of Education, and the State Surgeon General. I had no idea that this event even existed, and we were thrilled to participate and walk away so much more informed and prepared for the next steps in life.
Following the excitement of the Family Café, we participated in the events leading to the Port Canaveral Cove Merchant’s Association Mac Attack Fishing Tournament This year, the CMA chose to use the tournament proceeds to fund Curren’s participation in a specialized intensive physical therapy program at Ability Plus.My employer, BRPH, was a sponsor for the event and funded two boats to participate in the tournament.Despite tough weather conditions, the tournament was a great success. Curren will be starting the Intensive Physical Therapy Program in September, where he will spend 3 hours a day every day wearing a dynamic soft orthosis suit and work on muscle strengthening and active functional movements. At the conclusion of the 3 week program, we expect to see huge gains in hopes of Curren becoming independently mobile. We cannot thank the community and the CMA enough for coming together and supporting Curren in this incredible opportunity!
The boys also had their first horse riding lessons (or horsebacking as Weston calls it). Curren participated in equine assisted therapy, where he rode a horse with two side walkers holding on to his waistband (just in case he lost his balance). The repetition of the horses stride is calming, and absorbing the horses movement strengthens core muscles and increases balance. Curren has fallen in love with horse riding, and all the sweet staff at Walk on Water. I highly recommend equine therapy to anyone with developmental delays, physical disabilities, or autism.
Curren is building a large collection of adaptive tools and equipment at home. We installed a little ceiling mounted exerciser called a Merry Muscles in our living room, and Curren loves to jump and spin around in it. We also got a really exciting mobility device called the Upsee, which lets children with motor impairments stand and walk with the help of an adult. It’s a harness system that attaches to my feet and hips and let’s Curren see the world standing up. We also started see a new orthopedic specialist, who fit Curren with AFO leg braces to give him more stability when standing. He was not a fan at first, but he is doing so incredible with this additional support now! Our living room also has several new “furniture” additions – a chicken and an elephant from bobles, a Danish product line aimed at stimulating imagination and developing motor skills. We are also anxiously anticipating the arrival of Curren’s wheelchair, which should be coming in the next month or so.
And now, for the changes on the horizon! Curren will turn 3 next month, and will be phasing out of the Early Intervention program. I cannot say enough incredible things about our experience with Space Coast Early Steps. My heart is just overwhelmed with the support that has been provided to Curren by our team of therapists, the local community, and our Early Steps case manager. The experience that Early Steps provided Curren has built a solid foundation and has honestly changed Curren’s trajectory in life. As sad as we are to close this chapter, we are thrilled to have Curren start in an Early Exceptional Learning Program at a local public school. He will be attending class 3 days a week, and will get additional therapies at school.
We are also preparing for an upcoming trip to New York, where we will meet with the senior author of the most recent HIVEP2 medical publication. We are hoping to learn more about HIVEP2 and how we can further help Curren. We can't wait to see what Dr Chung can do for Curren - she seems like a truly incredible doctor!
I hope that everyone is (mostly) ready for school and has a wonderful fall! It’s so sad to see summer come and go, but the future is looking so bright!
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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.