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!
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/.
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!
I can't believe it has been almost 2 months since Rare Disease Day, and I really can't believe how much has changed in just that short amount of time. About a month ago, I was checking my weekly notifications from PubMed. I have alerts set up for keywords relating to Curren's disorder, and on this particular day, something very exciting that never had happened before happened. There was an alert for a medical publication using the keyword "HIVEP2". My heart actually stopped beating for a few seconds as read the name of the paper, "Mutations in HIVEP2 are associated with developmental delay,
intellectual disability, and dysmorphic features". Were there other children that had been found? Is there active research going on? I quickly scanned the document and found three incredible and somewhat unbelievable things:
Our advocacy journey has catapulted from next to nothing, to phenomenal (given the context). I was able to contact and discuss Curren's case with Dr Wendy Chung, the senior author from Columbia. We were also accepted into a study called the Simons VIP (Variation in Individuals Project), that aims to collect natural history information for families with specific genetic changes that have a known association to neurodevelopmental disorders, like seizures, developmental delay, and/or features of autism. We are hoping to get enough families enrolled in the study to begin lab studies specific to how HIVEP2 works. Curren has also just been accepted into another study through the University of Groningen in the Netherlands. The project is working to gather information from parents to better understand chromosome 6 abnormalities, including gene mutations. We also found out that a 10th child was diagnosed with HIVEP2 dysfunction last week (this is outside of the 9 published children).
We have also had some incredible support from the local community. The Cove Merchant's Association is hosting the annual Port Canaveral Mac Attack fishing tournament on Saturday June 18th, and they have decided to donate tournament proceeds to Ability Plus in Melbourne to sponsor an intensive therapy program for Curren and to help other children in need. Also, Curren has created some bright and beautiful artwork, and my wonderful friend Amy has designed special Jamberry nail wraps from his work! Our friend Ryann also has a beautiful and fun bubble design. These two special edition Jamberry nail wrap collections are bold and perfect for summer, and proceeds benefit HIVEP2 support.
We also recently attended a wonderful event, hosted by Ability Plus and No Limits Academy - the Everyone Can Dance Ball. The resources that these organizations provide to the community are incredible, and we are so blessed to be part of their village. All of Curren's therapists danced with him and everyone had a blast. Here are some of my favorite pictures, wasn't he so dapper?
I had no idea that we would come so far in such a short period of time, and it's hard to imagine what the next few months may have in store. I am so grateful to everyone that is rooting for Curren and keeping us in your thoughts and prayers!
The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ is a charge for everyone to join the rare disease community in making known the impact of rare diseases. I am happy to share Curren's story, in the hopes that his voice helps to bring about change!
Curren’s first few weeks of life started out calm and beautiful. But he caught his first cold when he was 6 weeks old, and was perpetually sick for the next year and a half. We went to the ER at 4 months old due to respiratory distress. Shortly after, Curren was diagnosed with failure to thrive due to weight loss. Over the next few years, Curren’s growth and development remained stagnant as we desperately tried to pinpoint the reason behind his delays and regressions. We experienced incredible highs and heart-breaking lows, but mostly we felt isolated and alone. Eventually we arrived at an answer. Curren has a single-point mutation in the HIVEP2 gene that is predicted to affect brain growth and development, immunity, hormone production, and bone remodeling.
There is one other child in the US currently known to have a HIVEP2 loss-of-function mutation - our friend Ryann. Because our voice is so small, we have not found much in the way of understanding our diagnosis, or possible treatment/management options. We have no information about prognosis. The response from most doctors or programs is one of two: (1) You already have a diagnosis, we are here to help the undiagnosed, or (2) There is nothing more you can be doing to help your child. I can't accept the second response.
I have been doing research on the HIVPE2 gene function, and have found affected pathways that are also compromised in more well-researched syndromes that currently have treatment trials underway (Phelan-McDermid Syndrome SHANK mutations and HIVEP2 both affect SSTR-2 function, Rett Syndrome gene mutations and HIVEP2 both upregulate the NF-kB pathway, increased MGluR5 signaling is common to both Fragile X and HIVEP2). My biggest hope for the future is that a more comprehensive approach can be taken with rare diseases. What if one of the treatments for a more well-known disease could benefit Curren and Ryann (and possibly many others)? I spoke with the doctor overseeing the Phelan-McDermid and Autism Specrum Disorder IGF-1 clinical trials regarding the common pathways I had found, and if he thought that IGF-1 treatments might benefit Curren. The response was that it was likely, but we don't meet the criteria for any of the trials, and the IGF-1 treatments currently cost over $100,000 a year.
I am in awe of the advancements in the field of clinical and scientific research, but I wish there was a quicker way to apply broad findings to specific cases. It is heartbreaking to see Curren break down in frustration due to his current limitations with communication and mobility. I want so badly to give him every opportunity to be able to express himself and move independently. My mission is to keep my son happy and healthy, and I believe that will be best achieved through accelerating research and raising awareness.
My hope is that World Rare Disease Day brings a new level of awareness to a critical issue. More people are affected by Rare Diseases than cancer and AIDS combined, but many with Rare Diseases have no resources, support groups, or research opportunities. Please help Curren's and Ryann's (and all the beautiful others) voice be heard by sharing our story!
A lot has happened in the past week or so. First, I can't even begin to explain the overwhelming support that my family has felt since we received the news of Curren's rare genetic syndrome a few weeks back. There are so many awesome people in this world, so thank you to all from the very bottom of my (exhausted) heart! There have been many ups and downs this week, and I want to share with everyone the good, the bad, and the ugly (but especially the good)....
The incredible news is that we have been able to make an appointment at Kennedy Krieger in the Neurogenetic Clinic to see two of the doctors that contributed to the recent medical publication on HIVEP2 mutations. There is a fabulous person that helped us get our foot in the door, and lots of recommendations from people to start there. We are beyond excited to talk to doctors that are familiar with researching HIVEP2 mutations. We are also trying to set up appointments at Johns Hopkins that would coincide with our visit to Baltimore. Fingers crossed....
On the topic of good news - here's a bunch more. Curren had his 6 month re-evaluation this week with Early Steps and he is going to be authorized for an additional session of speech therapy and occupational therapy a week. We are really looking forward to the extra help! Curren also had an appointment this past week to have new orthotic braces made, which is fabulous news because it means his feet are finally growing. We were also assigned a case manager through our insurance company this past week. She seems super fabulous, and I think she will be a great asset to us - as we very frequently have claims denied, and some of Curren's very best therapists and specialists are out of network and currently not covered by insurance. And we also had a initial appointment with the Scott Center for Autism this week. We're hoping that the behavioral therapy they offer will become available to Curren to help with some of his frustrations.
So, on to the not so good - we got a call from the preschool the other week that they were afraid Curren was having a seizure. He was playing in the gym and just fell over. His body went completely limp and he had a staring spell for a few minutes where he wasn't able to focus or look at anyone. On our pediatrician's recommendation, we took Curren to the local ER, where we had some really good, and some really not so good experiences. What we found out was that Curren's blood sugar was at 40 when we arrived. He also had very low CO2 levels, and was diagnosed with acidosis (his metabolic pH level was more acidic than it should have been). They had an awful time getting an IV in his body, and from this point began blood sugar monitoring every 1-2 hours (which was also awful, but necessary). Curren did magnificent in his CAT scan, he laid completely still as a statue, and the results of the scan were normal. The local hospital got in touch with our Neurologist at Nemours, and the verdict was that we needed to be there. Curren was transported by ambulance to Nemours, so that he could be in the best hands at the children's hospital.
It was great that we were in such good hands. What wasn't great was the fact that people kept coming in to our room every 30 minutes or so, usually to poke Curren. And when there weren't people in the room, his alarms were going off every couple minutes or so. I don't think either one of us got more than 15 consecutive minutes of sleep through the night. Curren began an EEG in the morning, to see if any more seizure activity could be recorded. His CO2 and blood sugar slowly stabilized throughout the day, and we saw no seizures. There was, however, a new area of his brain that showed seizure-like activity - this time it was his left temporal area (in addition to his left occipital area). At the end of the day, everyone decided that all the numbers were stable enough and we could go home. This was fabulous news, considering Curren was basically miserable in the hospital - between all the wires and the constant pokes, he was completely skeptical of everything and everyone in the hospital.
So on to more good news - we followed up with our pediatrician after the hospital stay and Curren's blood sugar was perfect. We don't really know if a seizure triggered low CO2/acidosis/low blood sugar, or if low blood sugar triggered a seizure. But either way, things have been much better since the hospital. We have been feeding this guys every 1-2 hours to be on the safe side, and things have been great.
Aside from the hospital encounter, it hasn't been the most wonderful of times. I am still trying to wrap my head around the genetic diagnosis we received a few weeks ago. I have been googling my brain out, and reading some scary things. I wish that life could go on hold for a few hours (or just maybe a couple minutes?) so I could get a chance to catch my breath and focus, but there is a 2 year old and a 6 year old, and a +full time job, and laundry, and a gluten-free/dairy-free diet prep for the week, and homework. I don't know what the future will hold. Will my littlest require 24-hour care for the remainder of his life? Based on the information I have today, it's probable. Do his genetic condition predispose him to some nasties? Seemingly so. But I have a fabulous smiling face, and that's truly all I need. I will go to the ends of the earth to find options to allow him to be his personal best. And that's the next chapter...
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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.