Patients & Members Archives - NORD (National Organization for Rare Disorders) https://rarediseases.org Alone we are Rare. Together we are Strong. Wed, 11 May 2022 13:09:26 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 NORD Hosts the Largest Gathering of a Rare, Post-Transplant Cancer in History https://rarediseases.org/nord-hosts-the-largest-gathering-of-a-rare-post-transplant-cancer-in-history/ Wed, 11 May 2022 12:17:42 +0000 https://rarediseases.org/?p=84808 Post-Transplant Lymphoproliferative Disorder (PTLD) is a rare cancer related to organ and stem cell transplants, as well as Epstein bar disease. There is no nonprofit organization dedicated to this community and the last known gathering involved less than a dozen patients and caregivers, pre-pandemic. When NORD learned of interest in this disease to share patient Read more >

The post NORD Hosts the Largest Gathering of a Rare, Post-Transplant Cancer in History appeared first on NORD (National Organization for Rare Disorders).

]]> Post-Transplant Lymphoproliferative Disorder (PTLD) is a rare cancer related to organ and stem cell transplants, as well as Epstein bar disease. There is no nonprofit organization dedicated to this community and the last known gathering involved less than a dozen patients and caregivers, pre-pandemic. When NORD learned of interest in this disease to share patient and caregiver stories with the US Food and Drug Administration (FDA), we immediately started working with the patients and caregivers in related transplant communities with known advocates impacted by PTLD. 

When evaluating potential new treatments and reviewing clinical trials, the perspectives of patients and caregivers help government regulators (like FDA) and drug developers understand what matters most to those directly impacted by these drugs. To share those community perspectives, NORD is proud to organize and host externally led Patient-Focused Drug Development (EL-PFDD) meetings, innovative events that provide an opportunity for families and patients to share critical information about the impact of a rare disease on their daily lives and provide valuable insight for FDA and other key stakeholders, including researchers, medical product developers and health care providers. 

On May 4, NORD hosted one of these critically important gatherings with FDA personnel, featuring the Post-Transplant Lymphoproliferative Disorder (PTLD) community. For the safety of the community, it was a fully virtual meeting, and featured live, engaging, interactive components, including polling, patient remarks, and engagement with federal decisionmakers and researchers. The four–hour EL-PFDD meeting was host to over 100 attendees and featured honest testimonials from parents, family members, caregivers, advocates, and community members who shared the burdens and symptoms of PTLD and hope for more robust treatment and cures in the future.  

The goals of the meeting were to tell stories and provide a robust understanding of how individuals with PTLD view their quality of life, which aspects of the disease are most challenging for them, and what actions they currently take to treat this disease. Caregivers and patients shared in-depth stories of how the disease manifested in their lives and wreaked havoc on their livelihoods, health, relationships, and more.  

Swapna Kakani, who was diagnosed with PTLD after a small intestine transplant in 2014, kicked off the meeting with a powerful message about the stories shared in the meeting: “Our vulnerability in our words is to ask you to have compassion and meet us where we are today to have health AND life alongside a PTLD diagnosis. Both are not mutually exclusive.” This set the tone for a productive and compelling conversation throughout the rest of the day. 

The audience heard directly from patients who recounted their unpredictable daily struggles with the disease’s widespread symptoms and what comes with such burdens, including from Ola Ojewumi, and the added challenges she faced from an inclusion standpoint. “During cancer treatment, my clinicians spoke with me about treatment outcomes for African American patients or provide resources to learn more about the drug. I was hesitant to ask about race and ethnicity because discussions about race is still seen as taboo in society. I was afraid my concerns would be dismissed or seen as insignificant. Representation matters when it comes to clinical trials for cancer treatment.” 

Parent and caregiver Greg Tufaro spoke about the devastating and consuming impact of the disease on his late daughter, Marisa. “My wife, Cyndi, and I are eternally grateful for the time God blessed us with Marisa. But we struggle daily to live with the tragic irony that the transplant performed to save her life inevitably claimed it, along with the heart of a donor whose family is also grieving… Marisa spent 161 of the last 214 days of her life as a patient at a nationally renowned children’s hospital, where dozens of doctors and nurses, profoundly impacted by her remarkable courage and will to survive, were reduced to tears upon her untimely passing.” 

Even for those such as Marianna DeLeon, who does not currently have signs of PTLD, there is still concern about what the future holds: “I am beyond happy to have had the amazing and unexpected gift of going into remission, but I will always bear the scars of not only my PTLD, but of the harsh, traumatic treatments I needed to survive it.” 

However, this meeting was not just designed to share stories, but to make progress and build on lessons learned. The second half of the meeting focused on treatments and facilitated audience discussion to urge strategic planning for next steps. The results of this meeting will be shared publicly in a “Voice of the Patient” report to inform the development of potential treatments that can improve the lives of patients living with PTLD and those who are diagnosed in the future.   

NORD would like to commend and recognize the great courage of all the panelists and speakers, and we are very grateful for their openness to share life experiences and needs. To view all the heartfelt stories and the entire meeting, please visit rarediseases.org/externally-led-post-transplant-lymphoproliferative-disorder-patient-focused-drug-meeting.

NORD is thankful to have partners in the rare disease field interested in hearing patients’ and caregivers’ perspectives, who can help understand hopes for future treatments, treatment side effects patients are willing to tolerate, the medical risks they are willing to take in clinical trials, and their interests and challenges in participating in clinical trials. As Rebekah Palmer, a PTLD patient said in the meeting’s closing remarks, “It is my greatest hope that these stories can help inform and improve the care received and quality of life for future generations living with PTLD.”  

NORD applied to the FDA and was granted approval to host an EL-PFDD meeting focused on pyruvate kinase deficiency (PKD) in 2019, Krabbe disease in late 2020, PTLD last week, and is planning to host a PFDD in late 2022 for another rare disease, Galactosemia, in conjunction with the Galactosemia Foundation. PFDDs are one of the most important ways the voice of rare disease patients and caregivers can be heard and utilized in decision making. Each year, NORD allocates resources and provides additional guidance and leadership to help a few groups and disease communities with need in hosting PFDDs and bring patient experiences directly to decisionmakers. 

The post NORD Hosts the Largest Gathering of a Rare, Post-Transplant Cancer in History appeared first on NORD (National Organization for Rare Disorders).

]]> Audrey’s Story in Honor of Undiagnosed Day https://rarediseases.org/audreys-story-in-honor-of-undiagnosed-day/ Mon, 25 Apr 2022 16:05:03 +0000 https://rarediseases.org/?p=84535 I am a parent of three children. Our two sons are medically complex with an unnamed syndrome. Through our parenting journey, we have faced epilepsy, autism, ADHD, global developmental delays, factor XI deficiency, hypoglycemia due to a suspected congenital disorder of glycosylation (CDG), severe reflux, dysphagia, rare surgical complications, as well as subtotal villous atrophy, Read more >

The post Audrey’s Story in Honor of Undiagnosed Day appeared first on NORD (National Organization for Rare Disorders).

]]> I am a parent of three children. Our two sons are medically complex with an unnamed syndrome. Through our parenting journey, we have faced epilepsy, autism, ADHD, global developmental delays, factor XI deficiency, hypoglycemia due to a suspected congenital disorder of glycosylation (CDG), severe reflux, dysphagia, rare surgical complications, as well as subtotal villous atrophy, splenomegaly, and enlarged abdominal lymph nodes of unknown etiology. Our sons have a duplication of 1p36 partially encompassing CAMTA1, and we are waiting for further genetic testing to narrow down possible syndromes. All possibilities are incredibly rare.

People don’t understand how hard it is when your child has a rare disease, let alone one that doesn’t even have a name yet. It’s scary, overwhelming and incredibly isolating. The rare community has provided endless love and support to our family.

Isolation is so hard. When people don’t understand the disease, they apologize and try to move the conversation along. They don’t know how to react, especially when it is something they’ve never heard of before. Instead of isolating us, ask us about the rare disease we are facing, hear us out and love those with rare diseases as you would anyone else.

Undiagnosed Day takes place on April 29. All diseases were once undiagnosed. Join NORD as we honor the undiagnosed rare disease community throughout the month of April.

The post Audrey’s Story in Honor of Undiagnosed Day appeared first on NORD (National Organization for Rare Disorders).

]]> Zane’s Diagnostic Odyssey: His Mother’s Story in Honor of Undiagnosed Day https://rarediseases.org/zanes-diagnostic-odyssey-his-mothers-story-in-honor-of-undiagnosed-day/ Tue, 19 Apr 2022 14:00:40 +0000 https://rarediseases.org/?p=84569 While in uterus, Zane had an abnormally large bladder that did not drain properly; however, no diagnosis was given at that time. The doctors monitored Zane closely starting around 20 weeks. He was suspected of having megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) in December of 2012 at six days old. Genetic testing began in January Read more >

The post Zane’s Diagnostic Odyssey: His Mother’s Story in Honor of Undiagnosed Day appeared first on NORD (National Organization for Rare Disorders).

]]> While in uterus, Zane had an abnormally large bladder that did not drain properly; however, no diagnosis was given at that time. The doctors monitored Zane closely starting around 20 weeks. He was suspected of having megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) in December of 2012 at six days old. Genetic testing began in January 2013, and official results showed a genetic defect with the ACTG2 gene.

It was terrifying as a mother to have my child diagnosed with a rare disorder such as MMIHS. It is frightening having doctors tell you that the average child with this diagnosis is likely to live only a couple of years and could require artificial nutrition or intestinal transplants to survive. The research published at the time was not very promising.

Throughout the years, we have had to fight for Zane continuously. We fight for medical care for him to get relief. We fought for tests to be able to develop a long-term plan for him. We fought insurance when they denied covering the cost of artificial nutrition, which he needed to survive. We continue to fight for him in the community and in day-to-day life. In the beginning, we often felt alone and not fully understood by doctors, family, and friends. It has been difficult for people to understand how fragile and medically complex he is. We did not know any other families that had medically fragile children and there was not a support group specific to MMIHS.

At this point in the journey, more people understand him. Our doctors are wonderful and listen to us as Zane’s parents and advocates. We find support in the MMIHS community through connecting with other families.

The first MMIHS support group began in 2014. The MMIHS Foundation began in 2017. The foundation is a wonderful support to those affected by MMIHS. Advocacy and research, as well as science/medical interventions, are key components to advancing quality of life for those living with this diagnosis.

Zane’s story is shared with the hopes of helping others in some way. Advocating for Zane and those with MMIHS will help others better understand the challenges and needs that are prevalent in the life of those with this diagnosis. We hope sharing Zane’s story builds support and inclusion to anyone who encounters him, or others like him. As a mom of a rare child, I understand the worries and the barriers, and I hope to be able to support any other moms on a rare journey.

Zane’s mother Lisa is a Running for Rare participant. Running for Rare fundraises for the Undiagnosed Diseases Network.

The post Zane’s Diagnostic Odyssey: His Mother’s Story in Honor of Undiagnosed Day appeared first on NORD (National Organization for Rare Disorders).

]]> ICYMI: Rare Disease Community Takes Action to Strengthen and Reform Accelerated Approval  https://rarediseases.org/icymi-rare-disease-community-takes-action-to-strengthen-and-reform-accelerated-approval/ Fri, 08 Apr 2022 13:15:01 +0000 https://rarediseases.org/?p=84532 90 Patient Organizations Sign-on to NORD Letters to Secretary Becerra and Congressional Leaders on Strengthening the Accelerated Approval Pathway  April 8, 2022, Washington, DC – This week, the National Organization for Rare Disorders (NORD), along with 90 other patient organizations sent letters to Health and Human Services (HHS) Secretary Xavier Becerra and Congressional leaders urging Read more >

The post ICYMI: Rare Disease Community Takes Action to Strengthen and Reform Accelerated Approval  appeared first on NORD (National Organization for Rare Disorders).

]]> 90 Patient Organizations Sign-on to NORD Letters to Secretary Becerra and Congressional Leaders on Strengthening the Accelerated Approval Pathway 

April 8, 2022, Washington, DC – This week, the National Organization for Rare Disorders (NORD), along with 90 other patient organizations sent letters to Health and Human Services (HHS) Secretary Xavier Becerra and Congressional leaders urging them to seize opportunities before them to protect patient access and strengthen the accelerated approval pathway.  

One letter is directed toward Congressional leadership urging them to incorporate into legislation to reauthorize the Prescription Drug User Fee Act (PDUFA) several policy recommendations to strengthen the accelerated approval.

Another letter is directed to HHS Secretary Becerra, urging him to support the efforts underway within Congress and FDA to strengthen the accelerated approval pathway and reject policies that could limit patient access to rare disease and other therapies that utilize accelerated approval. 

“Accelerated approval is vital to patients with rare diseases and other life-threatening medical conditions where no treatment currently exists,” said Heidi Ross, Acting Vice President, Policy and Regulatory Affairs, NORD. “However, NORD and the other 90 co-signing organizations believe reforms are necessary to help ensure patients have timely access to rare disease treatments that have been FDA approved through the accelerated approval pathway. NORD looks forward to working with Congress and HHS to ensure changes to the accelerated approval pathway ultimately benefit the rare disease community.” 

To learn more about NORD’s policy work, visit: http://bit.ly/Policy-Issues. 

About the National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases in the United States. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. Since then, the organization has led the way in voicing the needs of the rare disease community, driving supportive policies, furthering education, advancing medical research, and providing patient and family services for those who need them most. Together with over 300 disease-specific member organizations, more than 17,000 Rare Action Network advocates across all 50 states, and national and global partners, NORD delivers on its mission to improve the lives of those impacted by rare diseases. Visit rarediseases.org. 

The post ICYMI: Rare Disease Community Takes Action to Strengthen and Reform Accelerated Approval  appeared first on NORD (National Organization for Rare Disorders).

]]> Rare Disease Day and the Spotlight on NORD Member Organizations https://rarediseases.org/rare-disease-day-and-the-spotlight-on-nord-member-organizations/ Mon, 04 Apr 2022 12:30:12 +0000 https://rarediseases.org/?p=84455 Rare Disease Day Recap Rare Disease Day took place on February, 28, 2022 and successfully raised awareness for the 7,000+ rare diseases that impact over 300 million people globally. NORD is proud to partner with EURORDIS (Rare Diseases – Europe) and others all around the world to drive an international campaign that shines a light Read more >

The post Rare Disease Day and the Spotlight on NORD Member Organizations appeared first on NORD (National Organization for Rare Disorders).

]]> Rare Disease Day Recap

Rare Disease Day took place on February, 28, 2022 and successfully raised awareness for the 7,000+ rare diseases that impact over 300 million people globally. NORD is proud to partner with EURORDIS (Rare Diseases – Europe) and others all around the world to drive an international campaign that shines a light on rare diseases and advocates for health equity for all those living with a rare disease.

“Achieving health equity is even more difficult for rare patients. To have equity and health means everyone has the opportunity to be as healthy as possible regardless of social, geographic, economic, or other obstacles that may be working against them,” said Peter Saltonstall, President and CEO, NORD.

to so many NORD supporters, NORD staff and volunteers continue to make a difference for rare disease communities and help NORD to drive health equity forward. The Rare Action Network (RAN) helps volunteers connect with rare individuals and families in their states across the country and raise important issues with state lawmakers on Rare Disease Day and throughout the year.

NORD’s sponsors, media partners, and supporters enable the organization to advance programs to achieve health equity for rare disease families on Rare Disease Day and throughout the year. You can help NORD advance health equity initiatives by supporting their programs and services here.

NORD promoted Rare Disease Day activities, ways to get involved, and the virtual Rare Disease Day event throughout the month of February.

Rare Disease States and NORD Member Organization Highlights

New this year, rare disease educational highlights were featured on NORD’s social media channels that included a rare disease name, scientific definitions, prevalence of disease, the related NORD member organizations, and a project/initiative highlight from the member organizations. While our marketing and communications efforts for Rare Disease Day activities took precedent and are vital for having the rare disease community participate, NORD recognized the importance of defining and understanding some of its members’ rare diseases and highlighted projects currently being pursued at the affiliated organizations.

Below you will find each rare disease/member organization highlight. We hope that you learn some new facts and statistics about rare diseases that you did not know before!

  1. Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
  1. CACNA1A
    • Definition: CAlcium voltage-gated ChaNnel subunit Alpha 1A’ which is a description of the protein coded for by the gene. Mutations in CACNA1A cause several neurological phenotypes (observable characteristics or traits). Learn more.
    • Prevalence: The number of CAG repeats in this gene ranges from 4 to 18 for most people. Learn more.
    • Learn more about member organization: CACNA1A Foundation
    • Organization highlight: CACNA1A + -X Data Collection Program
    • CACNA1A Foundation was a 2021 CZI Rare As One recipient.
  1. VCP Disease
    • Definition: A rare, adult-onset, neuromuscular disease caused by any one of several possible variants in a gene called Valosin Containing Protein (VCP or p97). The clinical features typically include one or a combination of the following: myopathy, early–onset Paget’s disease of bone, and premature frontotemporal dementia. Learn more.
    • Prevalence: Approximately 12% of patients are affected with all three features listed above, 50% of affected people have two of the features, 30% have apparently isolated myopathy, and 8% have apparently isolated PDB or FTD. Learn more.
    • Learn more about member organization: CureVCP Disease.
    • Organization highlight: Natural History Study with Nationwide Children’s Hospital RARE
    • CureVCP Disease was a 2021 CZI Rare As One recipient.
  1. SCN2A
    • Definition: Located on the long (q) arm of chromosome 2 at position 24.3 the SCN2A is sodium channel, voltage gated, type II alpha subunit. This gene has been identified to cause autism, epilepsy and other neurological issues like dystonia and dysautonomia when there is a deletion or mutation of this gene. Learn more.
    • Prevalence: About 200 people in the world with changes in the SCN2A gene have been described in medical research. Learn more.
    • Learn more about member organization: FamilieSCN2A Foundation
    • Organization highlight: SCN2A Clinical Trial Readiness Study (CTRS)
    • FamiliesSCN2A Foundation was a 2021 CZI Rare As One recipient.
  1. Sarcoidosis
  1. Primary Ciliary Dyskinesia (PCD)
  1. Progressive Familial Intrahepatic Cholestasis (PFIC)
  1. Recurrent Respiratory Papillomatosis
  1. Smith-Kingsmore Syndrome
  1. Tatton Brown Rahman Syndrome (TBRS)
    • Definition: Caused by pathogenic variants (previously called mutations) in the DNMT3A gene and for that reason it is also called DNMT3A Overgrowth Syndrome. Individuals with TBRS have overgrowth, tall stature, increased weight, and large head circumference (also known as macrocephaly), mild to severe intellectual disability, and subtle but distinctive facial characteristics. Learn more.
    • Prevalence: Roughly 250 people have been diagnosed with TBRS. Learn more.
    • Learn more about member organization: Tatton Brown Rahman Syndrome Community
    • Organization highlight: TBRS Community Patient Registry
    • Tatton Brown Rahman Syndrome Community was a 2021 CZI Rare As One recipient.
  1. Telomore Biology Disorders
    • Definition: Heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and senescence. Learn more.
    • Prevalence: Telomere syndromes are diagnosed in patients who have symptoms associated with the condition and who have abnormally short telomere length. In 20-60% of patients, a genetic change (mutation) in a gene associated with telomere syndromes may be identified. Learn more.
    • Learn more about member organization: Team Telomore
    • Organization highlight: Camp Sunshine – Retreat for families impacted by Telomere Biology Disorders
    • Team Telomore was a 2021 CZI Rare As One recipient.
  1. Sickle Cell Disease
    • Definition: Inherited blood disorder that affects red blood cells. People with sickle cell disease have red blood cells that contain mostly hemoglobin S, an abnormal type of hemoglobin. Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels. Learn more.
    • Prevalence: It affects approximately 100,000 Americans and occurs among about 1 out of every 365 Black or African American births. Learn more.
    • Learn more about member organization: Sickle Cell Disease Association of America
    • Organization highlight: O.W.E.R ECHO Project Community Health Worker (CHW) Training
  1. Congenital Hyperinsulinism

The post Rare Disease Day and the Spotlight on NORD Member Organizations appeared first on NORD (National Organization for Rare Disorders).

]]>