At the age of 7 my daughter was diagnosed with a rare genetic disorder that at the time only had 100 documented cases worldwide. We were anxious to meet with her geneticist who could hopefully offer some answers, treatments or support but at our appointment our hearts sank when he said, "I don't have any information for you, maybe you can find a support group." When I left that appointment, I couldn't believe that in this day and age my daughter had a diagnosis that no one could help with. I soon realized it wasn't just me, thousands of families across the country were being told the same thing with their rare or undiagnosed conditions and "rare" didn't seem to be that important to the medical industry. If a program, lab or facility couldn't perform research or offer a product that could benefit thousands or even millions of people, there didn’t seem to be any interest. My background is in photography (not health) and I decided to start providing photo sessions for children with rare and undiagnosed medical conditions to see what kind of awareness I could raise for them. I would share their stories along with their images on a website (awareofangels.org) to try and make connections with others in a similar situation at a much faster speed then waiting on the medical field to share information (which can often take years). In sharing this information, I found that getting these rare conditions on the world wide web would reach not only other parents who spent endless nights searching for answers online but, also medical professionals who were also, searching for answers and other patients all around the world! It connected families, it connected those in the medical field, it raised awareness for rare disorders, it raised awareness for the struggles these families go through, it brought up the importance of genetic testing and that it can provide new treatments for rare disorders and even save lives! Aware of Angels has also given genetic testing opportunities to over a dozen undiagnosed children along with their families and there are more opportunities for them every day. Most importantly, my little website raised awareness for these sweet children and showed the world that they are beautiful, smart, funny, loving, and so loved by their care givers and they deserve the best quality of life possible. The photographs I have taken in the last few years have made in onto television, magazines, portrait galleries, numerous websites, events and blogs. There is something about putting a real person, a real face with these stories and their diagnosis that touches the hearts of so many people. Over the last couple of years, I have had email requests from families in and out of the country, that want to participate in our project. I want to try and do my best to make it to all of these families, give them a beautiful gift and raise awareness for them and their diagnosis on a global level. Some of these children will not make it past their 5th birthday. Some of these parents will never know the cause of their child's rare medical condition, never know anyone else who has the same diagnosis and some of them will never know of possible cures or treatments that can improve the quality of life for their child.
An accurate and conclusive diagnosis for these children will not only give direction for proper treatments and improve their quality of life, but in some cases it may save their life. These children desperately need treatments, cures and answers. Rare/Undiagnosed diseases collectively affect millions of children. They often are serious, debilitating and life altering; many are life threatening or fatal. This is why they need your help.
- Approximately 50% of the people affected by rare diseases are children
- 30% of children with rare disease will not live to see their 5th birthday
- Rare diseases are responsible for 35% of deaths in the first year of life
- Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease
- Many affect children at a very early age, and are of genetic origin
- Life-threatening and/or chronically debilitating diseases
- 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
- If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country
- There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
- 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
Articles for journals and case studies need to be written for these disorders and published quickly. The families of children with common syndromes need accurate, updated information on their genetic disorder. The families of newly discovered/recognized genetic disorders will require accurate information gleaned from additional research. Often a child is the only one with a rare condition, other times they are 1 in a 100 known cases in the world or 1 in 1000 worldwide; and we feel they are just as important as those in a larger group. We want them to be recognized. Often when a child receives a diagnosis, a doctor explains that because it is “rare” or because it is “genetic” there really isn’t much more he/she can do. Available treatments can be offered at-best to provide some temporary relief for the child but may not be a permanent answer. Many of these rare diseases CAN be treated and some of them cured if diagnosed early on! The literature that is handed out to families when they are told a diagnosis is often incorrect, incomplete or unavailable. This is why awareness is so important!