When parents learn their child is diagnosed with achondroplasia – the most common form of dwarfism – they soon discover that height is just one of the ways their child could potentially be affected.
“对很多家长来说, 他们中的大多数都是中等身高, 在他们的回忆中，这是一段难以承受的时光. They begin to search for information about a condition they’ve often never heard of, and that has some scary potential complications, 同时迎接一个新的孩子,Stacie Cavallaro说, 澳门正规博彩十大排行平台全球患者事务主任. “And what parents discover is that the height of their child is far from the only thing they need to monitor and stay vigilant about.”
Achondroplasia is a type of skeletal dysplasia that affects nearly all the bones in the body – which is why the potential impacts can extend far beyond height. The condition stems from a single root cause: a change in the FGFR3 gene, which encodes for the protein fibroblast growth factor receptor 3 (FGFR3). The FGFR3 protein is found on the surface of chondrocytes, cells in the cartilage that line up to form new bone.
“Bone growth involves a complex interplay of molecular signals. 一些信号促进骨骼生长, 而其他基因，如FGFR3，则会减慢其速度,Kevin Eggan解释道, Chief Scientific Officer and Head of 研究 and Early 发展 at 澳门正规博彩十大排行平台. “The genetic change in achondroplasia produces FGFR3 receptors that are always turned on, so there’s a constant signal telling bone growth to slow down.”
骨骼生长受损的影响
When bone growth is impaired throughout the body, 它会导致各种各样的并发症, 从轻微到严重. Some of the most common medical complications people with achondroplasia may face are ear infections, 睡眠呼吸暂停, 椎管狭窄和疼痛. In addition, everyday tasks such as reaching, bathing and walking long distances can be difficult.
在极少数情况下, children with achondroplasia may experience life-threatening complications, including brain stem compression or hydrocephalus (buildup of fluid in the brain).
Extensive research is ongoing to deepen collective understanding of the challenges people with achondroplasia face. One recent multinational study conducted by 澳门正规博彩十大排行平台, the Lifetime Impact Study for Achondroplasia (LISA), 注重与健康有关的生活质量, with a number of important findings about the range of potential impacts.
“Physical and psychological challenges in achondroplasia can significantly impact a person’s well-being,玛西娅·卡亚说, 澳门正规博彩十大排行平台’s Senior Vice President and Head of Global Medical Affairs, who began her career as a physician and endocrinologist. 在LISA研究中的个体中, there were frequent reports of significant pain, lower scores on quality-of-life questionnaires and a high rate of medical complications.”
To better support the achondroplasia community, advocates note that a holistic approach is needed. 这包括改善可访问性, increasing psychosocial support and providing options for people seeking treatment, 斯泰西说.
从倡导一个经验丰富的护理团队, to working with schools on creating a conducive and accessible learning environment, having a more comprehensive understanding of the complexities of the physical, mental and social aspects of the condition will ensure parents are properly equipped for what may come next,她说。.
展望未来
乔纳森•天, Group Vice President of Late-Stage Clinical 发展 at 澳门正规博彩十大排行平台, notes that the clinical outlook in achondroplasia is changing with new research and innovation.
“The research we and our partners are leading continues to tell us more about all of the potential impacts of achondroplasia,乔纳森·戴说。, Group Vice President of Late-Stage Clinical 发展 at 澳门正规博彩十大排行平台. “We are deeply committed to understanding more about how altered FGFR3 signaling can affect people with achondroplasia and other growth-related conditions, and look forward to learning more about how we can help this community.”
With continued research and a comprehensive approach to clinical management, there is a chance for improved health outcomes and a greater understanding of achondroplasia that goes beyond short stature.
“When parents are armed with information on the totality of achondroplasia beyond just height, 他们可以为孩子做出最好的选择,斯泰西说。.
