https://www.sophiesneighborhood.org/welcome daily 1.0 2025-10-31 https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1584911627737-LFDZA5RHKL7GX80FRZ7V/SophieMarch2020.jpg Welcome to the Neighborhood - What do you do when your child is diagnosed with a rare, destructive disorder? What if you were told she was one of 30 others in the world identified with the disease and there was no treatment? Sophie’s Neighborhood is a nonprofit organization founded in response to Sophie Feder Rosenberg’s diagnosis of Multicentric Carpotarsal Osteolysis (MCTO) Syndrome. Sophie was misdiagnosed with Juvenile Idiopathic Arthritis for a year until the correct diagnosis was discovered through Whole Exome Sequencing, one of the most extensive genetic tests available. In a matter of a moment, our understanding of Sophie’s condition went from being within a large subset of children with a very treatable disorder - juvenile arthritis - to suddenly being one in 30 with a crippling, life-altering disease that has no treatment or cure. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1584936174898-P7H788AMX65MI2X870DS/IMG_0132.jpg Welcome to the Neighborhood - What is MCTO? Multicentric Carpotarsal Osteolysis is a rare skeletal dysplasia defined by destructive bone degeneration (osteolysis), particularly affecting the bones forming the wrists (carpals) and the bones in the feet (tarsals.) Most individuals with MCTO also develop chronic kidney failure. MCTO is caused by a mutation of the MAFB gene, which has a problem with the pathway that regulates osteoclast differentiation and activation. In a normal person the body understands the process of breaking down and remodeling bone cells continuously over the course of ones life. In Sophie’s case, the variant on the MAFB gene only knows destruction. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1599188085307-D63DXEHZSRNCRPYAUK16/SN_2_Color_1.png Welcome to the Neighborhood https://www.sophiesneighborhood.org/about-mcto daily 0.75 2024-10-29 https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1585436468365-KNKILB00PWTL09M331N7/IMG_4342.jpg About MCTO At just under 3 years old Sophie does not show contractures (shortening and hardening of muscles, tendons, other tissue leading to deformity and rigidity of joints) in the hands yet, although it is one of the characteristics that tends to happen in all cases. Her symptoms can be seen in X-rays. There is a marked decrease in size of the wrist compartments bilaterally. The carpal bones are small and irregular in appearance. There is a tapering of her metatarsals and an irregularity of the distal radio epiphysis. The talus and calcaneus in her feet are small and irregular, there is a decrease in the size of the mid foot compartment bilaterally. Her feet point inwards and roll out on the side, such that she does not walk with her feet pressed flat to the ground. She cannot climb stairs, she cannot hop or jump. https://www.sophiesneighborhood.org/literature daily 0.75 2024-11-11 https://www.sophiesneighborhood.org/fundraise daily 0.75 2026-03-03 https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/56cbb720-9fa5-4dc0-b932-65ba1a9d54fd/IMG_2617.png Donate, Fundraise & Connect - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/0106fdb2-aebe-4804-8406-4f28d38ae055/PIZZA.jpg Donate, Fundraise & Connect - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://www.sophiesneighborhood.org/sophies-story daily 0.75 2026-02-16 https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1584938677195-6FIAQ1R14BOCF3GVE0KI/casts.jpg Sophie's Story Serial Casting to encourage the feet to a normal position, followed by removable night splints for the feet and wrists. Jan-Feb 2020. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1585536036728-L8DXS5YQGU690QSA9AUI/IMG_4339.jpg Sophie's Story Wrist splints enable more comfort and a nice stretch, in an effort to sooth her wrists as stiffness increases. March 2020. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1599188251417-F4E3CZV7FY194QS3P1ZF/IMG_5013.jpg Sophie's Story This is Sophie’s “miracle window.” Which means we have her diagnosis, but her symptoms are not yet too severe and she doesn’t experience persistent pain. We are working with urgency to help her before it is too late to reverse the crippling effects unwinding as her body grows. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1585022928468-E9YMZJN9EZNY3OE0XIM5/IMG_2956.jpg Sophie's Story Right foot has always been more affected. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1585536679549-9JYQ0APARSV0RDB4W7U7/IMG_4385.jpg Sophie's Story First time walking without the assistance of a walker, or a person to hold her hands, or any other support. 1 week before 2nd birthday, May 22, 2019. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1656518459711-HLRWFOZB6M9C0NK5JYXJ/IMG_1477.jpg Sophie's Story - Make it stand out Sophie at the age of 5. She’s a trooper and her daily life includes lots of therapy, medications that try to address her symptoms, day and night braces, visits with specialists that relate to each discipline this disease touches. She’s strong and resilient and a super hero! https://www.sophiesneighborhood.org/media daily 0.75 2021-08-15 https://www.sophiesneighborhood.org/may-30-silent-auction-here daily 0.75 2020-05-30 https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1590853777134-SZCO7INUMU4SMGMKFBH4/Sophie+Sneak+Peek+Social.png MAY 30 SILENT AUCTION HERE! Your support in this auction will give us the moment we need to engage with researchers and find a treatment for this rare genetic disorder!! Thank you so much for considering your participation. https://www.sophiesneighborhood.org/donate daily 0.75 2020-06-01 https://www.sophiesneighborhood.org/sophies-friends daily 0.75 2020-07-01 https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1592426890710-Q1RR2BH56WB0GG0260NB/Screen+Shot+2020-06-17+at+2.47.10+PM.png Sophie's Friends This is 4 year old Filippo. Visit Le Mani Di Filippo to hear this family’s story. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1593577857028-QT3FISBSEW5CUPE0BE4N/Natalia.jpg Sophie's Friends Meet Natalia. A 15 year old who has been faced with the destruction of MCTO her entire life. Watch her story below. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/1593578025106-78NBB39HMQWZK3DHHKSS/image1.jpg Sophie's Friends Guerlande is an 11 year old from Haiti, who was diagnosed with MCTO when she was 6.5 years old. https://www.sophiesneighborhood.org/board daily 0.75 2025-08-29 https://www.sophiesneighborhood.org/grantprogram daily 0.75 2024-10-29 https://www.sophiesneighborhood.org/funding-opportunity daily 0.75 2021-12-19 https://www.sophiesneighborhood.org/grants daily 0.75 2026-03-03 https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/eea7890c-7766-4b08-824d-092a3a0b2c55/processed-243EAC16-F06A-4261-8701-5AA09791D263-09EC6B11-6E64-4BDA-AC8C-DF85D402DC26.jpeg Funded Grants & Collaborators - April Craft along with Sophie’s Neighborhood scientific advisor, pediatric nephrologist, Matthew Sampson MD MS. April Craft along with Sophie’s Neighborhood Scientific Advisory Board Member, pediatric nephrologist,, Matthew Sampson, MD, MS. at a stem cell meeting. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/854f2456-5546-4e7d-8abf-b98287787cff/IMG_4576.jpg Funded Grants & Collaborators Roland Baron speaking at the 2023 GoldLab Symposium. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/c58624d9-da71-4024-8c1b-756a7fa1b7e3/20200604.jpg Funded Grants & Collaborators - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/e1a0046a-86b6-4122-98b6-1c3a0b524280/IMG_0641.jpg Funded Grants & Collaborators - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/9dea1b3a-9af9-4b5f-a0d2-b72cd503bc10/CU-Doctors-29183.jpg Funded Grants & Collaborators - Make it stand out Nina Ma, MD - Children’s Hospital CO https://images.squarespace-cdn.com/content/v1/5e72fa34d3880a526f6dba91/8efabd41-1f92-429d-a1a6-f704ddd8a2b6/IMG_2064.jpg Funded Grants & Collaborators - Dr. Ma is an exceptional physician with interests in understanding and treating children with rare bone conditions. (And, she is Sophie’s favorite doctor!)