{"id":59242,"date":"2021-02-12T20:23:07","date_gmt":"2021-02-13T01:23:07","guid":{"rendered":"https:\/\/rarediseases.org\/ashlees-story-in-honor-of-rare-disease-day-2\/"},"modified":"2021-02-12T20:23:07","modified_gmt":"2021-02-13T01:23:07","slug":"ashlees-story-in-honor-of-rare-disease-day-2","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/ashlees-story-in-honor-of-rare-disease-day-2\/","title":{"rendered":"Ashlee’s Story in Honor of Rare Disease Day"},"content":{"rendered":"

I\u00a0<\/span>was diagnosed with<\/span>\u00a0<\/span>p<\/span>rimary<\/span>\u00a0<\/span>i<\/span>mmunodeficiency<\/span>\u00a0(PI) when I was four years old. The adversities I\u00a0<\/span>have\u00a0<\/span>faced with rare disease started even before I received a life-saving diagnosis and are still something I struggle with today.\u00a0<\/span>In studying to be a<\/span>\u00a0health<\/span>\u00a0care<\/span>\u00a0<\/span>professional,<\/span>\u00a0it has been a journey to bring<\/span>\u00a0to<\/span>\u00a0light\u00a0<\/span>the adversit<\/span>ies\u00a0<\/span>patients with rare diseases face<\/span>, as well as<\/span>\u00a0making<\/span>\u00a0health professionals\u00a0<\/span>aware of the zebra<\/span>\u00a0and its significance<\/span>, whether that be for a diagnosis or in consideration to medication therapy.<\/span>\u00a0<\/span><\/p>\n

Rare Disease Day is important to me because it is a celebration of my stripes as a rare disease patient and advocate. I am proud to have been through the battles I have face<\/span>d<\/span>\u00a0with having a rare disease<\/span>.<\/span>\u00a0<\/span>I am also proud\u00a0<\/span>that I can\u00a0<\/span>hopefully\u00a0<\/span>one day help my patients with the battles they may face.<\/span>\u00a0<\/span><\/p>\n

One of the challenges I have\u00a0<\/span>continuously\u00a0<\/span>faced<\/span>\u00a0as a rare disease patient<\/span>, especially this year, is that\u00a0<\/span>I<\/span>\u00a0rarely ever have\u00a0<\/span>a say regarding\u00a0<\/span>my\u00a0<\/span>medication therapy. I receive a therapy called immunoglobulin<\/span>,<\/span>\u00a0which is sourced from plasma from healthy donors. Immunoglobulin is the only therapy those with PI can get that will keep us healthy and alive.\u00a0<\/span>Many others with a rare disease and I<\/span>\u00a0rarely<\/span>\u00a0get the choice of another therapy<\/span>, which<\/span>\u00a0brings many adversities. First, the price of immunoglobulin is incredibly expensive and puts a lot of stress on my parents and myself. I\u00a0<\/span>worry about the day I<\/span>\u00a0<\/span>will\u00a0<\/span>have to provide insurance for myself and the\u00a0<\/span>potential challenges that may come with receiving my medication<\/span>.\u00a0<\/span>\u00a0<\/span><\/p>\n

Second, those\u00a0<\/span>who<\/span>\u00a0rely on plasma-based therapies worry about access to their medications and possible\u00a0<\/span>shortages.<\/span>\u00a0Due to COVID-19, there has been a decrease in plasma donors<\/span>. This is<\/span>\u00a0worrisome for patients that rely on plasma therapies to keep them healthy and alive<\/span>,<\/span>\u00a0as it can take up to 1<\/span>,<\/span>000 donations to treat a patient with a rare disease.\u00a0<\/span>\u00a0<\/span><\/p>\n

Finally<\/span>, there is little support from health care professionals\u00a0<\/span>regarding<\/span>\u00a0the<\/span>\u00a0mental aspects of having a rare disease. This year<\/span>,<\/span>\u00a0I was faced with\u00a0<\/span>having to receive my immunoglobulin therapy\u00a0<\/span>subcutaneously<\/span>\u00a0versus intravenously. This was incredibly hard for me because I loved receiving intravenous treatments and had been doing them this way since I was four years old.\u00a0<\/span>T<\/span>his\u00a0<\/span>change became necessary<\/span>\u00a0when\u00a0<\/span>my<\/span>\u00a0<\/span>portacath<\/span>\u00a0had to be removed. My doctor felt that there was no other\u00a0<\/span>optio<\/span>n<\/span>,<\/span>\u00a0as my veins were not strong enough to be on life-long intravenous therapy and I had\u00a0<\/span>a\u00a0<\/span>high<\/span>\u00a0<\/span>risk of developing a blood clot<\/span>.\u00a0<\/span>The\u00a0<\/span>s<\/span>ubcutaneous<\/span>\u00a0infusions have been incredibly painful, time-consuming<\/span>\u00a0<\/span>and do not provide me with the same energy that intravenous infusions did.\u00a0<\/span>W<\/span>hen I sought out help from my physicians, I received no support. It was a problem that was brushed off by the idea that\u00a0<\/span>maybe one<\/span>\u00a0day it would get better<\/span>,<\/span>\u00a0and that I\u00a0<\/span>shouldn\u2019t<\/span>\u00a0complain because the treatment works well for others that receive it.<\/span>\u00a0<\/span><\/p>\n

Health\u00a0<\/span>e<\/span>quity<\/span>\u00a0<\/span>represents<\/span>\u00a0the social, economic<\/span>\u00a0<\/span>and environmental conditions\u00a0<\/span>that<\/span>\u00a0affect a person\u2019s health. Those with rare diseases are significantly impacted by heath equity in several ways such as diagnosis, access to treatment<\/span>\u00a0<\/span>and appropriate patient care. Rare disease\u00a0<\/span>patients must<\/span>\u00a0fight for the proper diagnosis because most doctors refuse to look for the zebra. Patients with rare diseases worry about having access to expensive medications. Many patients may have to travel exceptionally long distances to find a health care provider that specializes in their disease type. Health care providers can discourage rare disease patients and provide little support or willingness to help, leaving patients feeling as if their battle with their disease is either insignificant or defines them. With increased advocacy and awareness, I hope\u00a0<\/span>that\u00a0<\/span>these struggles lessen.<\/span>\u00a0<\/span><\/p>\n

I am my school’s pharmacy pediatrics club president (<\/span>Pharm.peDs<\/span>). I was motivated to be\u00a0<\/span>Pharm.peDs<\/span>\u00a0president because\u00a0<\/span>it recognizes<\/span>\u00a0both\u00a0<\/span>the\u00a0<\/span>rare and pediatric communities. This is due to the strong link between pediatric and rare disease patients<\/span>,<\/span>\u00a0as 50% of those affected by rare disease<\/span>s<\/span>\u00a0are children. For Rare Disease Day 2021, the club is participating in many events to\u00a0<\/span>bring awareness\u00a0<\/span>to\u00a0<\/span>rare diseases with the help of<\/span>\u00a0NORD\u2019s<\/span>\u00a0Rare\u00a0<\/span>Action Network<\/span>\u00a0Arizona\u00a0<\/span>volunteer state ambassador<\/span>,\u00a0<\/span>Dr. Melinda Burnworth. I am excited to use my experience as a pediatric patient with a rare disease to bring awareness to both the school and\u00a0<\/span>rare\u00a0<\/span>community of zebras of the medical world<\/span>,<\/span>\u00a0a<\/span>s well as\u00a0<\/span>the battles that they face.<\/span>\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

I\u00a0was diagnosed with\u00a0primary\u00a0immunodeficiency\u00a0(PI) when I was four years old. The adversities I\u00a0have\u00a0faced with rare disease started even before I received a life-saving diagnosis and are still something I struggle with … <\/p>\n

Continue reading “Ashlee’s Story in Honor of Rare Disease Day”<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":13082,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","_price":"","_stock":"","_tribe_ticket_header":"","_tribe_default_ticket_provider":"","_tribe_ticket_capacity":"","_ticket_start_date":"","_ticket_end_date":"","_tribe_ticket_show_description":"","_tribe_ticket_show_not_going":false,"_tribe_ticket_use_global_stock":"","_tribe_ticket_global_stock_level":"","_global_stock_mode":"","_global_stock_cap":"","_tribe_rsvp_for_event":"","_tribe_ticket_going_count":"","_tribe_ticket_not_going_count":"","_tribe_tickets_list":"[]","_tribe_ticket_has_attendee_info_fields":false,"footnotes":""},"categories":[505,1827],"tags":[2229,2643,2640,2642,2641,526,219],"class_list":["post-59242","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-patient-stories","category-rare-disease-day","tag-covid-19","tag-dr-melinda-burnworth","tag-immunoglobulin","tag-pharmacy-pediatrics-club","tag-portacath","tag-rare-action-network","tag-rare-disease-day"],"acf":[],"_links":{"self":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/59242","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/comments?post=59242"}],"version-history":[{"count":0,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/59242\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media\/13082"}],"wp:attachment":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media?parent=59242"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/categories?post=59242"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/tags?post=59242"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}