{"id":278620,"date":"2025-04-29T10:43:55","date_gmt":"2025-04-29T14:43:55","guid":{"rendered":"https:\/\/rarediseases.org\/?p=278620"},"modified":"2025-12-02T16:45:41","modified_gmt":"2025-12-02T21:45:41","slug":"undiagnosed-a-mother-and-sons-journey","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/undiagnosed-a-mother-and-sons-journey\/","title":{"rendered":"Undiagnosed: A Mother and Son\u2019s Journey"},"content":{"rendered":"

\u201cHaving someone say, \u2018This is your diagnosis. You are not crazy. It\u2019s not in your head,\u2019 would provide such relief, even if there is no cure.\u201d<\/strong> ~ M, a mother and caregiver whose son, D, has been living with a suspected rare disease. <\/span>\u00a0<\/strong><\/p>\n

In honor of Undiagnosed Day on April 29<\/a>, M and D (who have requested to remain anonymous) encourage patients and caregivers who are undiagnosed to do their own research, ask questions, and push for next steps when advocating for themselves so they can reach a diagnosis and live better lives.<\/p>\n

At 27 years old, and at a time when most people his age are out enjoying life and beginning their careers, D has instead been battling an avalanche of health issues since the tender age of 7, ranging from gastroparesis (a condition in which the muscles in the stomach don’t move food as they should for it to be digested), insomnia, and joint pain to hypermobility (where joints can move beyond the normal range of motion) and extreme vomiting. <\/span>\u00a0<\/span><\/p>\n

\"Photo<\/p>\n

Growing up, D had dreams of joining the Marines. When recruiters visited his high school, he joined a group of potential recruits but struggled to keep up during training due to leg pain. After seeing his doctor, he was told to rest; however, when he resumed his workouts, his leg began to swell.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cIt took a long time to figure out what was going on,\u201d says M. \u201cHis orthopedist suggested we see a podiatrist. The podiatrist told us that he suspected it was compartment syndrome,\u201d a painful condition that occurs when pressure within the muscles builds to dangerous levels. D underwent testing to confirm the compartment syndrome diagnosis and was scheduled for surgery.\u00a0<\/span><\/p>\n

\u201cFollowing surgery, the doctor asked D to move his toes, but he couldn\u2019t and was in pain,\u201d <\/strong>says M. \u201cThe doctor replied by telling him that he needed to work on his pain tolerance.\u201d<\/strong><\/p>\n

Fortunately, following this visit, D\u2019s physical therapist contacted the doctor after noticing that D had foot drop (a condition where a person has difficulty lifting the front part of their foot) and believed that nerves had been damaged during surgery. Although D underwent another surgery, his legs were never the same, and his dreams of joining the Marines slowly faded away. <\/span>\u00a0<\/span><\/p>\n

Following a surgery to treat D\u2019s heartburn, M asked for a referral to another gastroenterologist. After seeing one who failed to meet her son\u2019s needs, she successfully found another who was willing to take the time to help.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cThis doctor is compassionate. He read D\u2019s medical files, asked us questions, and made zero promises! After learning more about D, he told us that he suspects D has cyclic vomiting syndrome<\/a> [a disorder that causes sudden, repeated attacks of severe nausea and vomiting] and hyperactive nerves in his digestive system. Having a name and a course of action was so important to us,\u201d says M. <\/span><\/p>\n

Following this suspected diagnosis, M was referred to a geneticist. But, due to the number of patients trying to schedule an appointment with a geneticist and the lack of geneticists available, M was unable to schedule an appointment for D with an in-network geneticist until November 2028.\u00a0<\/strong><\/span>\u00a0<\/strong><\/p>\n

Despite continuing to advocate for her son\u2019s health, M knows there are things that she cannot control. D has been unable to work due to his health. He also suffers from medical post-traumatic stress disorder (PTSD), resulting from multiple hospital stays, procedures, and unpleasant experiences with medical staff. <\/span>\u00a0<\/span><\/p>\n

Although D tries his best to navigate his symptoms and daily life with the help of mental and physical therapy, he strongly believes that having a diagnosis would help him live a better life.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cNot knowing what is wrong with my body is both confusing and exhausting,\u201d says D. \u201cThe uncertainty takes a toll on my daily life \u2014 physically, emotionally, and mentally. I am tired, not just from my symptoms, but from the constant search for answers. Every new test or appointment brings hope, but also the risk of disappointment. I want answers and, most importantly, want to understand what is happening so I can move forward and live my best life.\u201d<\/span>\u00a0<\/span><\/p>\n

If you or someone you know is searching for a diagnosis, please visit this page of the NORD website<\/a> for res<\/em>ources and guidance that can support your journey.<\/em><\/strong><\/p>\n

NORD thanks M and D for sharing their stories. Change starts by raising awareness. To share your own story with NORD, email us at stories@rarediseases.org<\/a>.<\/em><\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"

\u201cHaving someone say, \u2018This is your diagnosis. You are not crazy. It\u2019s not in your head,\u2019 would provide such relief, even if there is no cure.\u201d ~ M, a mother … <\/p>\n

Continue reading “Undiagnosed: A Mother and Son\u2019s Journey”<\/span><\/a><\/p>\n","protected":false},"author":13,"featured_media":0,"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],"tags":[4357],"class_list":["post-278620","post","type-post","status-publish","format-standard","hentry","category-patient-stories","tag-ran-2025-export"],"acf":[],"_links":{"self":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/278620","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\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/comments?post=278620"}],"version-history":[{"count":0,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/278620\/revisions"}],"wp:attachment":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media?parent=278620"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/categories?post=278620"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/tags?post=278620"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}