Diagnostic Journey and Care

• “A simple blood test would have diagnosed my condition years agobefore I had permanent lung damage. I wish physicians would listen to theirpatients more carefully and not dismiss concerns about medical symptoms.”
• [I need]“...more resources for all my specialists to coordinate as amedical teams to help manage my conditions - not only my rare disease since Ihave other issues such as COPD, Heart Disease, Osteoarthritis, blood disorder,etc.”
• “[Hospital name] cut their funding of the MGAclinic this year, and I need to take my wife to the Cleveland Clinic next.There aren’t enough doctors trained in autoimmune or pain management, and it isa constant fight to figure out what symptoms need to be reported to the rightdoctor! So many specialties, it’s frustrating!!”
•  “As the need for medical workers in hospitals increases and theshortage increases, it has been more and more difficult to find good, reliablehome health nurses. This is a huge burden and safety concern.”
• “My daughter was only diagnosed as quickly as she was because I have amedical background and was able to diagnose her. We had to fight for everytest, every step of the way, until we finally got answers. It took over a yearto get both diagnoses. The local doctors tried to say her symptoms werepsychological and could have caused permanent, irreversible damage had we notfought.”
• “Covering formula out of pocket is extremely expensive. Pennsylvanianeeds to revert back to providing some formulas for PKU [phenylketonuria] patients(including all females of childbearing age!)” [This comment refers to care viamedical nutrition, which in many cases is critical in preventing furtherdeclines in health.]
• “I have been almostcompletely unable to access quality care for my rare diseases after I aged outof being able to see pediatric doctors. The pediatric primary care doctor and multiplepediatric specialists I saw growing up treated me from either right after I gotout of the NICU or from a very young age until I was too old for their officepolicies to allow me to see them (some at age 18, others at 21). I have beenunable to access continuity in care or specialists familiar with VATER since Iaged out.”

Access to Medications

• “People that deal with chronic pain just want to be able to functionin life, just like everyone else. Sometimes we need to take an opioid,sometimes, we don’t. The war on opioids has swung too far on the pendulum inthe opposite direction.”
• “I tried a treatment that worked for me, and I felt my best in 10years, and Medicare decided it would no longer pay for it, thus leading to arapid decline. It makes no sense what they do.”
• “Co-pay for medication would be $1000.00 per month. Not eligible forhelp from the manufacturer. Decided against spending that much - although thatmeans shorter time to live.”
• “My doctors and I have had many issues with the ability to prescribeopioid pain medication since the CDC's misapplied 2016 "guidelines"regarding opioid pain medication. These medications are the only treatmentwhich helps the excruciating intractable pain I suffer from after having triedall other treatments, surgeries, and procedures over the many, many years Ihave dealt with them.”
• "How are we supposed to pay the bills if approved nurses aren'tavailable to support our daughter and she can't be given to just anyone? Wewant to work and contribute, but this is not feasible when we don't have care1-3 days a week."
• “I depend on an off-label medication with a list price that iscurrently $220K/year and rising. I live in fear of losing insurance coveragefor this medication, which is the only thing that helps address the symptoms ofmy disease and allows me to live an almost normal life. Once I reach age 65, myout-of-pocket for part D coverage would be >$14K at current list prices, but of course, the list prices will be higher by then.”
• “My disease is only managed, as there is no cure, with opioids. WhileI understand the need for Restrictions, for people that live in chronic pain,it makes it very hard to get a doctor to prescribe what I truly need to getthrough a day.”‍

Impact on Ability to Work and Attend School

• “Having a rare disease is incredibly frustrating and difficult. It hastaken me seven months to get insurance to improve treatments, which has causedme to have to leave work and require a wheelchair.”
• "My daughter's disease will require more extensive careand services as she gets older, requiring more time from work and school. Weare in the early stages and will require extensive assistance as she progresses.”
• “After years of trying to find a proper diagnosis and a treatment plan,we can now figure out the next steps for my daughter's remaining years throughmiddle school and high school ...”
• “Spouse had to leave full-time employment to take care of a child.Also, many people are uncomfortable taking care of child, so we really don’thave any childcare.”
• I needed a van for my long and dailytrips to medical therapies and specialist appointments, my parents took out 2loans to get a van, and because now it’s 7 years old with only 33,500 miles,they can’t get help financially to get a lift or valet seat installed and theyneed to lift me in and out of the van.
•  “Public school not equipped to handlethe manifestations of our son’s disability so we’ve had to pay out of pocketfor private school and therapy.”
• “Medicaid is awful. I have had to fight tooth and nail to get servicesapproved for my child. A 2-year-old who has, at times, hundreds of seizures aday, on top of global delays, is non-verbal and immobile. All because I (mom)do not work, and I am competent. I had to quit my job to be able to care forour child, and I am competent, but I have other children, my husband, who worksfull time and is a full-time grad student, and myself to try to take care of.Burnout is real, and the extra work I have to put into getting things approvedis absurd. I am competent, so I continue to fight for things my child needs,but my heart breaks for those who don't have the time or resources to be ableto fight for their kid.”

Travel for Care

• “I can’t find a specialist in PA for this disease. It took me twoyears after the [medication name] was approved by the FDA to get it for[child]. He qualified, but half the doctors didn’t know about it, and then itwas 20k a month, and the process to get it approved took 6 months or more.That’s a long time and a lot of kidney function lost.”
•  “The biggest challenge I had with temporal lobe AVM was that there wasa lack of doctors experienced in my area with it, and I was given a gravediagnosis. I had to search out my own 2nd option and use the Internet to findresources. I found a better physician out of state and ended up with a betterresult.”
• “It’s very hard to get rides to my Hershey doctors because my diseasehas taken most of my eyesight from me. Due to that, I’ve had to change gooddoctors for local doctors who have never heard of my disease.”
• “Five years post-diagnosis, we are still drowning in credit card debtdue to health insurance deductibles, travel expenses, and living expensesincurred due to lost wages.”
• “My 11-year-old daughter passed away due to complications of pneumoniabecause of her rare disease, MERRF. It took 5 years of progression of symptomsbefore she was diagnosed. After she was diagnosed, my son (her twin) and I weretested. It is a maternally inherited disease. We both have it, too, with lessseverity than my daughter did. We travel from Pittsburgh to

• Philadelphia to…[Hospital name] at themitochondrial medicine frontier program. It will cost, just in travel, over$400. What my insurance won't cover will probably be over $1500.”
• “I stayed home and raised my kids. By the time I was able to work, my health really started todecline, and I wasn’t able to obtain enough credits to qualify [for Social Security]...We have incurred so much expense between medicine, unpaid time off for himto take us treatment, and money to travel for proper care it’s disgusting.”

Quality of Life

• “At the same facility, I have one doctor telling me that I will needto be on medication for the rest of my life while the other said I'm fine thatI will not have to take any medication and come back in a year for a follow-up.Which one am I supposed to believe?”
• “I need to meet people like me, I did on Facebook but it’s not thesame as chatting with them.”
• “It's not easy having a rare disease, as sometimes people stare at youlike your weirdo, when I was younger, I wasn't disabled, but I always felt badfor those who were, I spent many years volunteering in a nursing home as my motherwas a nurse. I guess doing that made me have more compassion than some do. Somepeople will help me; others will just stare at me, it's like, what? I'm just a person,and stop staring at me…”
• “Recently, I got into it with my work for treating me differentbecause I wasn't feeling good, due in part, to complications I'm experiencingdue to lack of care for my rare disease. People don't understand. I even toldmy most direct boss about my condition when she started there, and she couldhave cared less. No questions no comments. The job I had before that one I quitbecause I heard a group of about 4 managers talking about me, saying how I'mslow, they were saying to the one, how does she even have the patience to workwith me, I overheard them on passing. It really hurt me to hear them. Stillhaunts me. More needs to be done in terms of EEOE, ADA, and rare diseases.”
• “Medications are often not covered, which is difficult, and takingtime off from work to attend doctor’s appointments is trouble. Some employersdo not understand the needs of a patient with rare disease.”
• “My son is a super, very important person in my life, of course. Myson just wears one pair of "shoes" because the insurance believesthat he doesn't need them. Well, the insurance did not pay for his shoes thisyear because they said they could code them right. It is frustrating trying toexplain to others how much he needs his shoes like other kids. I hope that thissurvey helps a lot of people. Thank you!