In an On Medicine blog, the ojrarediseases presents an article by Fiza Javed, a runner-up entry in ‘beacon for rare diseases’ and ‘Medics4RareDiseases' 'Student Voice' contest.
Many people believe their partners to be one in a million, I found out mine was when he first shared with me that he couldn’t consume fats because of Familial chylomicronemia syndrome , also known as Lipoprotein Lipase Deficiency . A rare recessive genetic disorder characterized by uncontrolled high levels of triglycerides, resulting in potentially life-threatening recurrent pancreatitis and complications requiring hospitalization .
We were excited about gene therapy and felt instantly hopeless when it was discontinued after a single sale at a million dollars. We were looking forward to Volanesorsen, the only drug available which showed significant decrease in triglycerides with no other treatment on the market. Volanesorsen was rejected by the FDA over concerns of thrombocytopenia.
A young woman from the U.S who is both a patient and an FCS advocate shares that access to treatment is a constant stressor and has caused substantial worry throughout her life.
A young woman with FCS from the U.K. struggled immensely during her pregnancy, which is a common experience for women with FCS. Despite being a clinician herself, her constant pleas for plasmapheresis were dismissed until 22 weeks of pregnancy when she was admitted to ICU. She battled feelings of loneliness, depression, anxiety and fear for her and her unborn child’s life. She felt unsafe and lost confidence in her medical team.
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Low serum anti-Müllerian hormone is associated with semen quality in infertile men and not influenced by vitamin D supplementation - BMC MedicineBackground Anti-Müllerian hormone (AMH) is released by testicular Sertoli cells and of great importance during fetal male sexual development, but less is known about the role of circulating AMH during adulthood. In vitro studies have shown that vitamin D may induce AMH transcription, but a controlled trial investigating the possible effect of vitamin D on serum AMH has not been conducted in men. Methods A single-center, double-blinded, randomized placebo-controlled clinical trial (NCT01304927) conducted in Copenhagen, Denmark. A total of 307 infertile men were included and randomly assigned (1:1) to a single dose of 300,000 IU cholecalciferol followed by 1400 IU cholecalciferol + 500 mg of calcium daily (n=151) or placebo (n=156) for 150 days. Difference in serum AMH was a predefined secondary endpoint. Explorative outcomes were associations between serum AMH and gonadal function in infertile men. The primary endpoint was difference in semen quality and has previously been published. Results Infertile men in the lowest AMH tertile had significantly lower sperm concentration (∆T3-1 16 mill/mL (228%); P | 0.001), sperm count (∆T3-1 55 million (262%); P | 0.001), motile sperm count (∆T3-1 28 million (255%); P | 0.001), progressive motile sperm count (∆T3-1 18 million (300%); P | 0.001), testis size (∆T3-1 2.7 mL (16%); P | 0.001), serum inhibin B (∆T3-1 72 pg/mL (59%); P | 0.001), inhibin B/FSH ratio (∆T3-1 48 (145%); P | 0.001), and higher FSH (∆T3-1 2.6 (38%); P | 0.001) than the tertile of infertile men with highest serum AMH. Vitamin D supplementation had no effect on serum AMH compared with placebo treatment. Conclusions In infertile men, low serum AMH is associated with severely impaired gonadal function illustrated by poor semen quality and lower testosterone/LH ratio. Serum AMH in infertile men was not influenced by vitamin D supplementation.
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