Tengo un hijo de 11 a
Our 13 year old son, Luke, was born with profound hearing loss, some hypotonia & retinal dystrophy, which was thought to be caused from congenital CMV. He was constantly sick throughout his childhood, but that was thought to be mostly due to infection in his cochlear implants. Five years ago, after he had the CIs removed, he had a nasty round of pneumonia that left him unable to walk, even after he was better. Bloodwork showed elevated creatinine kinase levels, which we knew CMV had nothing to do with....which led to numerous new specialists, biopsies, testing... all which came back with more questions. He continued to deteriorate. He is now completely non ambulatory, blind, he is on a pulmonary, cathing & bowel plan(s), on pain meds for neuropathy, has terrible GI issues & a gtube for medication, hydration & nutrition when he can’t eat. But as testing was normal, we were basically almost giving up hope of ever finding a diagnosis & just trying to manage symptoms. Insurance wasn’t going to pay for Genome Sequencing.
In 2016, our son, Clay was born. He also had profound hearing loss & mild hypotonia, which we knew couldn’t be from CMV... but we were hoping it was just a hearing gene they both had, even though the most common ones all came back normal. Then he had an ERG done that also showed retinal dystrophy. You can imagine our fear. Now we knew this was a genetic condition. We were going to have to watch another child deteriorate & suffer with no diagnosis. We felt helpless.
Enter the amazing, life changing , hope giving Rare Genomics Institute. They helped us get quad Whole Genome Sequencing with Illumina through the iHope program.
The Sequencing found a mutation in my, Luke & Clay’s X chromosome (PRPS1). Genetics diagnosed our boys with an extremely rare metabolic syndrome called Arts Syndrome. As far as we know from medical literature, we are the only known living cases. While it is a devastating, gloomy diagnosis with no cure, there is a treatment that has been shown to help with symptoms. I dare say our Clay (at 2 years) might be the youngest ever diagnosed. If we can get him on treatment right away & set up pulmonary plan & illness protocol right away... his quality of life could be vastly improved & his deterioration slowed...who knows what kind of impact this early knowledge could have on his life?!
As for Luke, we can’t reverse the damage done, but maybe we can manage his symptoms, & plateau. We know what things this syndrome attacks...we can be proactive in everything, getting plans & the right specialists involved, etc...helping make our boys lives the best & happiest that they can be.
We are beyond grateful for the compassion of RG. Thankful for giving us a diagnosis, for giving us knowledge, for giving us hope.
Mike & Joanne Nelson
We were completely astounded with this organization. Not only did they help us find out our son’s rare genetic disorder, but they made the process easy and enjoyable!
After 6 long years of not knowing anything and doctors telling us they dont know, our son was able to participate in a whole genome test and with the help of the Rare Genomics Institute we were FINALLY able to learn what condition our son has. The Rare Genomic Institute helped us to better help our son, they made the process easy and it always felt like they were just as enthusiastic about helping our son as his father and I am, and always very kind and EXTREMLY HELPFUL!!!! I can not THANK the Rare Genomic Institute enough!!! AMAZING PEOPLE AND AMAZING CARE!!!! THANK YOU SO MUCH!!!
Rare Genomics Institute (RGI) is an amazing organization. Through the BeHeard contest we were able to create a mouse model for Vici syndrome research. Our son is severely affected by Vici syndrome. The unique opportunity provided by RGI enabled us to move research forward in a big way.
In December of 2017 I applied to RGI on behalf of my daughter Allyson. She was diagnosed with Global Developmental Delay at age 2 and one of her specialists believes that it is due to a chromosomal abnormality. All preliminary testing came back negative for commonly known disorders. The next step was to do Whole Genome Sequencing, but where we live (Manitoba Canada) the cost of running that test was not covered and it would be up to us to pay for it. The cost we were told was anywhere from $19,000-$30,000 or more! There was just no way we could ever pay for it.
I belong to a Facebook support group of parents with children who have undiagnosed genetic disorders and there was an advertisement for funding for WGS through RGI. I thought "I have nothing to loose", I submitted an application. I did not think that anyone would even respond to me. It was a short time after that Romina Ortiz contacted me and she walked me through the steps of what I would need to do next in order to have Ally's case considered for funding.
We were so happy and in amazement when we found out that Ally was selected! Although the WGS came back negative for known chromosomal and metabolic disorders, we were happy to hear that her information will be stored in a database so that as discoveries are made, they will continue to reference her data and hopefully one day we will have an answer or at the very least a name for her disorder. We are also realistic that Ally's condition is likely not curable, but answers can provide family with closure.
We are so very thankful to RGI. What a wonderful organization! Please continue to help families. If it were not for RGI we never would have been able for Ally to have Whole Genome Sequencing done.
Chris and Madelaine Lark
parents of Allyson (Ally) Lark
I volunteered with Rare Genimics early in my career and it was one of the most satisfying professional experiences I’ve had. It felt good to connect families with universities and researchers that could help them. It’s been wonderful to watch Rare Genomics grow
I currently volunteer with Rare Genomics Institute as a member of their Patient Advocacy Team. Since joining the team, I've been involved with fulfilling work that directly impacts patients. We are currently at the advent of genetic technology development and at this point in time, clinical next-generation sequencing is becoming a reality for rare disease patients. However, many patients/families do not know how to go about accessing these technologies in their efforts to find a diagnosis. As a volunteer at Rare Genomics Institute, I've seen our Patient Advocacy Team bridge that gap for patients and as a result, have helped several families reach a diagnosis after years of searching. Through witnessing the impact of Rare Genomics's work on patient families, RGI has far exceeded my own expectations as a volunteer.
The Rare Genomics Institute has been an amazing resource for the families I have referred to them for help with Genetic testing. Given the often exorbitant costs of genetic testing in healthcare, their help has been incalculable in helping some of my patients get a diagnosis when insurance and personal funds simply cannot bridge the divide to get testing due to cost. As we enter the age of precision medicine and gene therapy, such knowledge in an increasing number of diagnoses will have therapeutic and life sustaining benefit.
Volunteering with the Rare Genomics Institute has been an incredibly rewarding experience. The leadership team at RG is devoted to improving the lives of the patients they work with by consistently going the extra mile to meet patients' needs. RG has an impressive network of researchers and scientists who ensure that the Institute remains on the cutting edge of genomics research, and there is a significant emphasis placed on protecting patient information and providing prompt and high-quality responses to patients' information requests. As a volunteer, I have received consistent support whenever I have needed it and given plenty of opportunities to expand my skill set in patient advocacy and communication. I am humbled to be a part of this organization and look forward to continuing to serve our patients for years to come!
Working with RG has been a truly rewarding experience. We have been able to help families who have exhausted resources and still are searching for answers to their medical conditions. We are able to offer services to families through our formed partnerships in various industries. The RG team is extremely dedicated to helping families and is constantly finding innovative ways to provide more services.
The Rare Genomics Institute (RG) is an incredible organization focused on supporting undiagnosed rare disease patients. Since 2011, they have helped to bridge the health care gap for undiagnosed and rare disease families with clinical sequencing, genomic research, and alternative funding methods for sequencing. We hope through increased access to information, tools, and support systems that our patients can get them closer to diagnosis, treatment, and, one day, a cure. Our organization is run by dedicated teams of 244 volunteers who serve as patient advocates, researchers, and analysts. All of our teams strive to help our patients and families find a diagnosis. I have volunteered with RG for 6 years, and during that time, I have seen the organization grow and develop new teams and resources so that we can help our families in many ways. With the addition of each new team, I believe that are becoming even stronger organization driven to find our families answers. I am so grateful to be a part of such an organization and all of the incredible work that we do to help our families.
Being able to volunteer as a patient advocate has been such a rewarding experience. I have learned so much and I feel that I have a purpose. I love being able to help patients and families with rare, undiagnosed diseases. There are so many ways to grow at RG as a volunteer and the organization is very collaborative and cross functional. I have been able to help work on other team projects outstide of the patient advocacy team. I also appreciate the fluid communication structure--I get to work directly with one of our co-founders and am able to talk with the other volunteers spread all across the country during our weekly video conferences. From my volunteering experience here, I feel that I have developed a new found interest in genetics and would like to work in this field one day making my own unique contribution!
I have worked with RG for the past 4 years. This is the only volunteer role I have ever maintained for more than a couple years as the work is just so rewarding (and good professional development opportunities too!). The leadership is supportive and very competent, while the other volunteers share similar goals and are a pleasure to work with. It’s been an amazing journey watching the organization grow and I am excited to continue working with them for many years to come!
Rare Genomics helped us to find different organizations to help us with a very rare genetic condition. All of our recourses in our region had no clue. We now have 2 doctors who specialize in this rare gene. A BIG thank you to Jennifer Vu and her task force team at Rare Genomics.
Rare geonomics was our first experience with getting our daughters genetics done. We had not even heard about genetics until a friend introduced us to Rare Geonomics. Even though our daughter had suffered for many years from a rare disease , we were never told about genetics testing. The Rare Geonomics institute kept us informed on ever step of the way. They called my husband and I personally to help with results. They explained things in language we could understand. We have had two other places do my daughters genetics since then and they have by far been the most helpful, friendly, and knowledgeable. I would highly recommend them to anyone with a rare disease.
I born with unknown mutation of new muscle dystrophy genetice disease that was never found in biopsy the cause for the distrubation of fiber muscels, i have been make contact with the team and they made research of 7 months.
We are so thankful that we had an opportunity like this to have our daughter tested. We weren’t able to get a diagnosis, but it’s one less thing we have to worry about. They provided us with an opportunity we had waited 5years to get and we couldn’t be more grateful!
We had a great experience with Rare Genomics. We applied to the iHope program for my daughter, hoping that whole genome sequencing would help us get some information about her undiagnosed condition. Even after the application phase, there was a lot of waiting and hoping she'd be accepted. Throught the process, our patient advocate, Matthew, was extremely helpful - even Romina made herself available for my questions and concerns. The support of the RGI team was more than I could have asked for and their efforts were definitely a factor in helping our daughter get accepted to the iHope program. Having a child with an undiagnosed disease can be very isolating and RGI provided a beacon for us.
As a patient advocate at Rare Genomics, we help to connect adolescent patients to partner CLIA certified laboratories for whole-genome sequencing and analyses. The goal of this international non-profit is to integrate phenotypic medical information with genomic data to identify a diagnosis and find appropriate treatment options. It is imperative that these children receive sequencing because they are consistently denied coverage for prescribed medical therapies and equipment due to the lack of a formal diagnosis. The parents of these patients typically come to us as a last resort and to be able to help these families has been a truly rewarding experience.