Summerly’s health issues, along with her 22q, include seizures, aspiration, feeding intolerance, reflux, hypocalcemia, lymphopenia and hypoparathyroidism. Her current care team includes her pediatrician, geneticist, plastic surgeon, speech therapist, nutritionist, GI, immunologist, neurologist and endocrinologist.

Although 22q11.2 deletion syndrome is known as a “rare genetic disorder,” it is actually the second most common genetic disorder, after Down syndrome. However, there is still a lack of awareness and information about it.

Although my daughter was diagnosed after birth, I believe she could have been diagnosed prior to birth due to an abnormal prenatal ultrasound. The ultrasound led us to seeing a maternal fetal medicine (MFM) doctor and a genetics specialist. They ultimately ruled the echogenic focus finding on her heart “no concern,” because they were only looking for Down syndrome.

About 1 in 4,000 people are diagnosed with 22q11.2 deletion syndrome. However, medical experts believe this number to be even higher due to people living with this syndrome unknowingly. 22q can affect every system in the human body, with nearly 200 mild to serious symptoms.

I work to raise awareness and provide education about 22q through my website, www.my22qt.com.

The post Summerly’s Rare Journey appeared first on NORD (National Organization for Rare Disorders).

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).

I want others to know that we don’t have answers. I want them to know that a text checking on your family is okay and to not be afraid to ask questions. However, please do not push your thoughts on what you think I need to do for my child. Help uplift and support, not judge.

The idea of health equity is important, because not everyone’s health will be the same. Times change, and so does our health. In time, maybe doctors have more insight to help kids who are rare like Sarah.

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 What the Public Should Know: From the Mother of an Undiagnosed Child appeared first on NORD (National Organization for Rare Disorders).

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).

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).