Updates!
June 7, 2024:
We couldn’t figure out why, but Tristan suddenly stopped playing with his toys recently. He normally loves his light-up and musical toys, but for the past few weeks he had completely lost interest in them. Then, after being on the repurposed drug we found for him for nearly two years, we started noticing the return of some neurological symptoms that we hadn’t seen since he started the medication. We realized we were probably well overdue for a dose increase, since we had never adjusted it and he’s obviously grown a ton in that time. We upped the dose for his current weight, and WOW, what a difference!! Ever since the increase he’s been so much more alert, active, and happy. The neurological symptoms immediately disappeared, he started playing with his toys again, and he’s been imitating a ton and so much more engaged in his therapies. So good to see him enjoying things again!!
Another extremely exciting development with the repurposed medication: it’s now been trialed by another member of the KCNH1 community and she saw a lot of positive effects!! After wanting to try it for over a year, Katia’s parents had finally gotten their neurologist on board, and here’s what her mom shared with me: “She definitely sleeps better since she started the repurposed medication. She’s more aware when we talk to her, and she reacts faster when we say her name. She’s started showing us our phones, if she wants us to put on music for her. She began using a spoon to feed herself again, and holding a cup to drink; she had done those things in the past, but she had lost it and it had been several years. Overall, she seems more lucid.” Unfortunately Katia also started having some side effects (hand tremors), so they ended up decreasing the dose significantly, but you can see in the video the massive progress she had been making; for our severe KCNH1 kids, things like waving, being able to communicate a want or need, self-feeding, and drinking out of an open glass are almost unimaginable achievements. It’s so exciting to see our KCNH1 kids responding to these targeted treatments!
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May 5, 2024:
I had such a wonderful time speaking at the Rady Children's Institute of Genomic Medicine conference this week! Everyone from Rady's was so warm and welcoming, and the attendees seemed really touched to hear the patient perspective. We unfortunately had a very difficult diagnosis-day experience, and sadly I know that this is all too common (I actually know of at least two families that received a fatal diagnosis over voicemail...completely egregious and unacceptable), so I felt it was important to share what a difference it makes when providers deliver devastating diagnoses with empathy and compassion. I also stressed the crucial importance of connecting families to their rare-disease community, since patient communities provide a lifeline of emotional support, combatting the extreme stress and isolation of the rare-disease life, as well as providing a wealth of practical information on symptom management (that no doctor can possibly know since they've probably never seen a case before!). Patient-advocacy organizations like Cure KCNH1 Foundation also act as the critical link between the patient community and the research community, facilitating communication and collaboration that accelerates research, investment, and treatment-development. RCIGM is a world leader in advancing early diagnosis and intervention for babies with rare diseases, and I feel so grateful for the opportunity to be a part of this conference, and excited about our foundation's ongoing involvement with the BeginNGS newborn screening initiative!
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March 14, 2024:
One of our main projects over the past year was generating neurons and brain organoids ("mini-brains") from Tristan's stem cells, and then studying the neurons and organoids to identify differences between Tristan's unhealthy cells and a healthy control. We've now completed the first-ever KCNH1 organoids, and successfully identified differences in the neurons, which is a crucial step to be able to test potential treatments! Over the past two years our foundation has funded two main drug-development and drug-discovery projects, and each of these projects yielded two promising "hits;" now that we have our neuron model system up and running, we can move on to the exciting experiments we've been waiting for: testing the potential drug candidates in the neurons to see if they correct the problems caused by KCNH1 mutations. We can't wait to see what we learn by comparing different types of therapeutics to identify what might work best to treat KCNH1-Related Disorders!
February 29, 2024:
It's Rare Disease Day, show your stripes and support the cause! We did a fun awareness campaign at our boys' school today, I went into each of their classrooms and did a little presentation, and then we passed out lollipops with info on KCNH1/rare disease after school...all in full-on zebra flair, of course! Flora Vista's principal, teachers, staff, and families have all been so wonderful and supportive, rallying around our family and our cause, we're so incredibly grateful for our amazing community. And a special thank-you to all our volunteers who helped prep and pass out the treats!
On this Rare Disease Day, some rare-disease facts: first of all, rare diseases actually aren't rare! Taken together, they affect 1 in 10 Americans and 300 million people globally, more than cancer and AIDS combined. Half of rare-disease patients are children, and many of them won't live to see their 5th birthday. Approximately 80% of these diseases have a genetic cause, and rare genetic disorders are often the underlying cause for common conditions like autism, epilepsy, and physical and intellectual disability. Many rare diseases are fatal, life-threatening, and/or profoundly disabling, and 95% have no targeted treatment. Science is advancing rapidly and genetic treatments/cures are within reach, but there's frequently little to no funding available for these tiny patient populations.
Cure KCNH1 Foundation is working with local biotech companies and national and international organizations and researchers to develop cutting-edge genetic therapies that can help not only Tristan and the other KCNH1 kids, but millions of other rare-disease patients. In honor of Rare Disease Day, please donate today to make a difference in the lives of these severely-disabled kids!
February 25, 2024:
Whew, it's been a busy Rare Disease Month!!! I was incredibly honored to present alongside many of my rare-disease heroes at the Rare Disease Awareness Workshop hosted by iXCells Biotechnologies (the company we've used for most of our research projects), and they had the mayor of San Diego there for the grand opening of their new lab, so I got to meet him and pitch him my idea for a Zebra Run at the Zoo. With help from the iXCells CEO, we're now in talks with the zoo and looking to make this fun event come to life!! It was extremely touching to see the clear demonstration of iXCells' commitment to their rare-disease patients, with the pictures of Tristan and many of our rare-disease friends all over the walls at their new facility.
After that event, I was asked by one of the attendees to speak at the 10th-annual rare-disease event organized by Women In Bio, Southern California, where we had an excellent panel discussion on the ethical challenges in rare-disease diagnosis and treatment. I met a lot of amazing women in the life sciences, and even connected with a researcher who had worked on a KCNH1 drug-development project at a biotech company on the East Coast. With such a tiny patient population, it always blows my mind to hear about any companies that are even aware of KCNH1-Related Disorders, let alone investing money into developing treatments! But it always gives me so much hope to learn that there's more research and investment going on than I know about, and we just have to keep connecting the pieces to make sure everyone working on KCNH1 has the best data and tools to study our disease.
I lost a LOT of sleep over the past month stressing about a huge grant deadline, but with lots of help from friends, family, and our scientific advisors, we submitted an application for the highly-competitive Rare As One Grant from the Chan Zuckerberg Initiative. We won't find out until August and it would be a bit of a stretch for a tiny organization like ours, but it would also be an absolutely transformative opportunity, so fingers crossed!!
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October 9, 2023:
Cure KCNH1 Foundation is excited to partner with Probably Genetic to offer no-cost genetic testing to eligible patients through our website!
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www.curekcnh1.org/genetic-testing
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Increasing access to genetic testing within the special-needs/disability/rare-disease community is one of the most important ways to improve these patients' lives; a genetic diagnosis can improve health outcomes, provide answers that families have been looking for for years, allow patients/caregivers to connect with other affected families for support and practical information about how best to manage the symptoms, and increase the patient population for rare diseases which then gives biotech companies more incentive to develop treatments.
For all these reasons, we were thrilled to learn about a company called Probably Genetic, which offers FREE genetic testing to eligible patients in the US. This program is really unique because the kit is shipped directly to your home (no doctor appt or blood draw required!), includes over-the-phone genetic counseling, and one of the coolest things is, there's no age limit. Most adults with developmental disorders have not been offered a chance to get tested, and it's really important to start giving them answers too. So if you know anyone whose kid (of any age!) has special needs, epilepsy, autism, cerebral palsy, etc, PLEASE share this link!!
September 5, 2023:
Our foundation’s first in-person event was a phenomenal success!! We have the most amazing community, on just one week’s notice almost 250 people came out to support the cause! Planning was a little hectic on such a short timeline, but all the pieces kept falling into place at the last minute, and the icing on the cake was that one of our neighbors who we had never met before happens to work at a local biotech company that focuses on rare diseases, and he brought the CEO (who is a leading rare-disease researcher), and it turns out that because of our work they are actually aware of and interested in our teeny-tiny disease!! This is the stuff that really gets me excited for the future, knowing that our efforts are getting KCNH1 on the map and creating ripples that we don't even know about.
July 31, 2023:
After months and months of delays on various different projects, we finally have the first-ever KCNH1 neurons!!! After I connected with them last summer, researchers at the Lerche Lab in Tübingen Germany obtained funding to study KCNH1 and develop neural networks. A few months ago, we sent them Tristan's stem cells (along with his brother Trae's, as a healthy control), and they have generated two different kinds of neurons from the stem cells in order to test and compare the effects of different types of treatments for KCNH1 disorders. At our research meeting last week, they shared pictures of Tristan's neurons, which was SO exciting to see after working on this for almost two years! The next step will be to try and identify the differences between Tristan's unhealthy neurons and Trae's healthy neurons, and then see if different types of treatments can correct the problems caused by Tristan's KCNH1 mutation. This is a huge milestone for KCNH1 research!!
May 31, 2023:
We're excited to share that we were featured in the spring edition of UC San Diego Magazine! Our story follows the feature article on rare-disease research being conducted at UCSD, which has become "a robust hub for rare disease research." We’ve had the chance to meet with several scientists there, including Alysson Muotri who is featured in the article, and we're extremely excited to begin a new project developing the type of “mini-brains” (brain organoids) described in the article (fun fact that's not mentioned, Muotri has actually partnered with NASA to send some of his organoids to space!). As noted in the article, "the discoveries made while studying rare diseases can be applied to other, more prevalent and visible disorders and diseases," which is definitely the case with KCNH1, since it has a direct link with cancer. This is all very cutting-edge stuff, and we're excited to be a part of it!
Check out the articles here:
March 31, 2023:
March was an extremely exciting month at the Cure KCNH1 Foundation! When you're developing treatments, one of the most important things is to have good models of the disease, so that you can then test (long before we get to the stage of trying them in a human!) whether the treatments help reverse the effects of the disease and move the model toward a healthier state. For a brain disorder like KCNH1, there are several levels of models, ranging from a simple cell line (which we already have for KCNH1), to an individual neuron, to a neural network, to a "mini-brain," to a mouse model. Other than the most basic simple cell lines, none of these models currently exist for KCNH1, so one of our most important jobs as a foundation is to help create these invaluable tools for researchers to study...but of course they're very expensive to develop! This month we had a couple of really big breakthroughs; after months of back and forth, Jackson Labs (the leading maker of mouse models) is ready to move forward on the development of not one but two KCNH1 mouse models! They have an NIH grant to cover the cost for ultra-rare diseases, so this is a savings of about $50,000 to our foundation. Also this month, I learned that a research group in Germany that I've been corresponding with for the last six months obtained funding to study KCNH1, and they will be developing KCNH1 neural networks, which is something we had been considering paying $75K for! These kinds of models are absolutely crucial, and the fact that our foundation doesn't have to fund them means that we get to continue to focus on the development of the actual treatments themselves, which is just huge. Speaking of...I just signed a contract to move forward on the next phase of research validating a number of very promising repurposed drug candidates! These are existing, FDA-approved medications that could potentially help suppress the toxic effects of KCNH1 mutations, and since these drugs have already been through clinical trials and have an established safety profile, they could potentially be accessed very quickly to help our KCNH1 kids. With all of these developments, we're feeling incredibly hopeful about what the next few months will bring, and grateful to our scientific partners and all of our supporters investing in our mission!
January 16, 2023:
We were so thrilled to host the first-ever KCNH1 family and scientific conference over the weekend, and it was a tremendous success! Considering how small our KCNH1 community is (only about 30 families who are active in the community), I was hoping for maybe 50 attendees, between the families and researchers and doctors. With tons of outreach over the past few weeks, we were able to get over 100 people from 14 different countries to attend!! We hired a translation/closed-captioning service in 25+ languages so that everyone could be included, and language wouldn't be a barrier for our international community. We recruited numerous new scientists and families, and I couldn't be more excited about the results that this increased collaboration and engagement will bring. At the end of the conference, we had a researcher roundtable discussion, where numerous scientists were offering to share models and collaborate on projects, which can really propel the research forward. We've gotten very positive feedback from both the families and researchers, saying how informative and impactful and motivating the day was, with numerous people offering to get involved and help out in various ways. Please check out the "Events" tab for more information, and thank you all again, as always, for your involvement and support!
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November 28, 2022:
Giving Tuesday marks the one-year anniversary of our first fundraising campaign. What a difference a year makes!! One year ago, we had a dream but NO clue how we were realistically going to achieve it. Then we launched our GoFundMe, and had an incredible response…it was one of the top GoFundMes in the country following Giving Tuesday, we had 900 donors and $50,000 in three days! Within a few more months, we had raised another $200,000 and started funding pivotal research. In the last six months, we have designed, manufactured, and screened a batch of antisense oligonucleotides (ASOs, or RNA therapies), and identified a couple of promising hits! We have also funded a repurposed drug screen, which identifies existing, approved medications that could be repurposed to help correct the potassium-channel overactivity caused by KCNH1 mutations. Just yesterday we got our list of results from the drug screen, and there are some very promising candidates! Over the summer, we started Tristan on a repurposed medication that had some amazing initial results; for two weeks, he was actually able to learn, it was incredible!!! In those magical weeks right after he went on the medication, he was learning significant new skills every single day, many of them things we had been working on for weeks or months in his therapies. Although unfortunately the positive effects didn’t last, it was extremely encouraging evidence that these types of treatments can really work! The research is progressing and we know that treatments are on the horizon, but we need you to help us get them across the finish line. Please invest in life-changing research today, and share with all your friends and family…together we will Cure KCNH1!!!
August 3, 2022:
After five trips to four different labs and two separate blood draws for Tristan over the past week, we finally were able to finish collecting the three samples for the various treatments/research projects we’re working on. One is to test the blood levels of the investigational medication he started in June (got those results yesterday and the levels are extremely low, which means we have plenty of room to increase the dose, yay!). Another is to provide a sample to the Northwestern University lab that is studying KCNH1 and potential treatments. And the last one is for a very fine-grain genetic analysis for the development of the gene-expression therapy (ASO) through the n-Lorem program. We're grateful for the super-nice phlebotomists at Rady Children's Hospital who waded through all the kits and vials and paperwork to get everything straight. Huge thanks to all of the doctors and organizations supporting us with these projects!!!
June 23, 2022:
Making progress!! We're lucky to live in one of the biggest biotech hubs in the world, which is incredibly helpful when you're trying to develop cutting-edge medical treatments. The company that's doing the research for our gene-expression therapy is located here in San Diego and invited us to come tour the lab, so this week we had the chance to see all of your generous donations at work! It was very cool to see the actual brain cells, which will soon be used to test our KCNH1 ASO treatment, growing in Petri dishes. We’ve already designed and manufactured 50 test ASOs (gene-expression/RNA therapies), now this lab is going to screen them for efficacy, and then the next step will be testing them on rats for safety. The iXCells team was wonderful, they‘re clearly very invested in this project and motivated to help Tristan and the other KCNH1 kids!
May 7, 2022:
Big news!!! Thanks to all of you and your generosity, we are making rapid progress toward developing treatments for Tristan and all the KCNH1 kids; we've already completed designs for the ASO (gene-expression therapy), and just this week we went under contract to have them screened. We also signed a contract with Rarebase, a company that is using computer modeling and AI to identify existing medications that could be repurposed to combat the toxic effects of KCNH1 mutations. Thank you all for your support, YOU are making this happen!!!
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February 25, 2022:
Hello Team Cure KCNH1! First of all we wanted to thank you all again SO much for all the support over the past few months!! We have a couple of exciting updates to share, first off, the Encinitas Advocate just published a story about Tristan and our fundraising efforts:
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Also, many of you had asked us to let you know when we received our 501(c)(3) status, and after months of waiting we finally heard back from the IRS and Cure KCNH1 Foundation is now an official nonprofit organization! Please explore and share our website to help spread awareness of KCNH1. All donations through the foundation website are 100% tax-deductible.
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