Making Connections
We're bringing the benefits of genetic research to those who need it the most. |
RARE GENOMICS NEWSLETTER
July 2022
Stay updated on the latest services, collaborations, and opportunities we have. At the same time, we'll share ways you can help us advocate for the needs of rare disease families. With your input and support, we can find new ways to do more! |
Think you know about RG and Rare Diseases? Prove it |
Try RG Trivia! Answers are included at the bottom of this newsletter.
*Hint: follow RG on social media to stay up to date on RG news |
1. How many rare diseases have been identified globally?
(a) 6,000 +
(b) 3,000 +
(c) 100+
(d) 10,000 +
2. What can RareWear help with?
(a) Condition management
(b) Providing medical devices at no cost
(c) Monitoring vital signs
(d) All of the above
3. When was Undiagnosed Children's Awareness Day in 2022?
(a) March 31st
(b) January 3rd
(c) April 29th
(d) May 22nd |
Rare Genomics is always looking for new patients!
If you have questions about a health condition, Rare Genomics Institute may have answers. One of our programs could offer you resources and support. To date, Rare Genomics has helped over 825 families and coordinated genetic sequencing for over 380 individuals who sought information. We have also assisted families with $5,050,000 in funding for next-generation sequencing. Take the first step by completing the Rare Genomics contact form. |
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Ryan entered this world spontaneously, 5 weeks earlier than expected. At the time, her mother Kelley had been living in Udon, Thailand with her husband and two other children.
At birth, Ryan was diagnosed with bilateral sensorineural hearing loss and an umbilical hernia. A few weeks later, she was diagnosed with macroglossia and an oversized liver. After piecing together a puzzle of symptoms, including Ryan’s spontaneous birth, her pediatrician made the diagnosis of Beckwith Wiedemann Syndrome (BWS) at three months. Kelley was relieved to have a diagnosis. With a name to lead the way, this initial answer pointed their family towards further work-up, medical research papers Kelley could read to learn more, and treatment options.
However, Ryan’s story did not end with BWS. She continued to be in pain for the first 1.5 years of her life because there were several other symptoms that were unaccounted for in the initial BWS diagnosis, and therefore not addressed. With many more doctor’s appointments and Kelley’s determination to find answers, Ryan was eventually diagnosed with adrenal insufficiency, growth hormone deficiency, hypoglycemia, epilepsy, hydrocephalus, and central hypothyroidism. Once the hydrocephalus was treated with a ventriculoperitoneal shunt (VPS) and her epilepsy was treated with seizure medications, Ryan started to show improvement with her pain. Kelley noticed that she was smiling more. |
Alex and Caroline's Story |
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Caroline Cheung-Yiu has learned about rare diseases from the heart-wrenching perspective of a parent. No parent wants to discover that their child is seriously ill, but for parents and families of patients with rare diseases, the burden of illness often begins with a bewildering diagnostic odyssey - a difficult and indefinitely long search for a diagnosis. Without a diagnosis, patients with rare diseases and their families are left to search for answers and options. For Caroline’s son Alex, that search began during early childhood and lasted more than 12 years. To date, it has not led to anything resembling disease management or a cure. Nevertheless, Caroline and Alex’s story is one of faith and hope.
Alex seemed like a normal, healthy boy from the time he was born until he began to walk. But around the age of two years old, he started having noticeable problems with coordination and balance. From there, Alex’s small problems turned into bigger problems.
Soon after she began noticing these problems, Caroline started creating a visual record which would eventually be crucial in finding a diagnosis for Alex. Early in the video record, it seems as though little is wrong with Alex other than clumsiness: he would often reach to pick up a toy and miss, but then succeed on his second attempt. Between the ages of five and six, Alex started having difficulty walking without supporting himself against a wall or railing. At age six, the video record shows Alex trying to remain standing but falling. In that moment, viewers of the record can hear Alex voice a range of emotions - fear, embarrassment, and finally, bewilderment. Under any other circumstances a parent would come to their child’s aid. However, in this case, the best Caroline could do for Alex was to continue recording. The video was an important tool to be able to provide doctors with a record of Alex’s worsening symptoms, in the hope that someone might have answers. |
Economics and Politics in
Rare Disease Treatments |
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The cost of living with a rare disease in the United States is significantly higher than the cost of living with other types of health conditions. Findings published in a 2022 report by Chiesi Global Rare Diseases, a Boston-based business unit of Chiesi Farmaceutici S.p.A, revealed that the economic burden of a patient living with a rare disease is approximately 10 times higher than that of a patient living with a more common affliction. Chiesi states the average overall cost per rare disease patient in the U.S. is $266,000 annually, but in comparison, the average overall cost per patient living with a so-called “mass market” disease is roughly $26,000 annually.
Costs for rare disease patients come from a variety of sources. The most pressing source of costs for rare disease patients likely comes from the unavailability of treatments for rare conditions: approximately 95 percent of rare diseases do not have a known treatment. Chiesi reports annual rare disease patient costs were 21.2 percent lower when a treatment for their condition was available. Unfortunately, many pharmaceutical companies do not focus on developing treatments for rare diseases. Since the rare disease patient population is significantly smaller than the mass market disease population, funding is often not available and therefore, rare diseases are less profitable to treat. |
Answers:
1. (a)
2. (d)
3. (c) |
Support Rare Genomics Institute with Every Amazon Purchase
You can now support Rare Genomics Institute each time you make a purchase through the Amazon app on your mobile phone! All you have to do is enable AmazonSmile, a program that donates 0.5% of your eligible purchases to us, at no extra cost. It’s an easy way to make every purchase count.
Follow these steps to turn on AmazonSmile on your iOS or Android device :
1. Open the Amazon shopping app on your mobile device
2. Go into the main menu and tap into “Settings”
3. Tap “AmazonSmile” and follow the on-screen instructions to complete the process
Thank you for supporting the important work we do. |
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