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She is smiling and appears happy. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/b04fab12-bdbb-4a20-b2c9-d4ecb8793cdc/Photo+Apr+29+2024%2C+2+42+18+PM.jpg Everly A young girl in a specialized wheelchair riding a pink stationary exercise bike with assistance from a woman in colorful scrubs, inside a therapy or rehabilitation room with exercise equipment and a large yellow exercise ball in the background. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/9e477253-a19d-43fc-809a-fb74bf35c7b6/Photo+Aug+17+2023%2C+9+10+23+AM.jpg Everly A young girl with glasses, a helmet, and colorful bracelets sitting in a wheelchair outdoors at a school playground with a brick building and other children playing in the background. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/c7060f67-16b9-478d-aa93-9fe61655696b/Photo+Aug+21+2023%2C+7+20+01+AM.jpg Everly A young girl in a motorized wheelchair with a transparent tray in front of her, wearing glasses and colorful shorts, being pushed by an adult outside on a sidewalk near a grassy area. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/00517b9c-62fe-4e84-be10-c3af15b5bd8f/IMG_4376.jpeg Everly A young child with curly red hair lying in a hospital bed, wearing oxygen tubes, clear glasses, and a colorful shirt with animal prints, appearing unwell. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/6c0bb00c-12e4-4620-932c-fad8750ccf4f/Photo+May+12+2024%2C+3+41+53+PM+%284%29.jpg Everly Three children in costumes celebrating at home, one standing with a cowboy hat and toy sheriff badge, one lying on the couch with a party hat and injuries, and a third lying on the floor with a big smile. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/fc76645b-4894-45e9-9d4a-50a9965e1fad/Photo+Dec+09+2023%2C+2+13+07+PM.jpg Everly Child in a hospital bed in a hospital room, connected to medical tubing and wearing a giraffe print hospital gown. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/476725d2-2f14-4b57-ad50-6148a1fbf97d/Photo+Dec+11+2023%2C+11+48+39+AM.jpg Everly A young boy with blue eyes lies in a hospital bed, wearing a blue hospital gown with dog prints, a nasal cannula providing oxygen, and is resting on a pillow. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/b4b2ac77-9f30-4166-beda-84c763fa55f7/Photo+Dec+25+2023%2C+9+46+15+AM.jpg Everly Three children in Christmas pajamas standing in front of a decorated Christmas tree, with one in a wheelchair, inside a home. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/88f6556a-97a4-4dc6-b3d9-9a72744ace4a/Photo+Jan+03+2024%2C+7+33+48+AM.jpg Everly A young girl with light brown hair and bright eyes lying on a bed with a pink and white floral pillow, smiling at the camera. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/cdb22c6d-6f2d-466c-91c9-52f9d02e4a9f/Photo+Jan+22+2024%2C+6+54+01+AM.jpg Everly A woman is comforting a young girl lying on a hospital bed, with the woman gently touching the girl's forehead. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1d2a9f48-eb07-4790-9c2a-bf4ca07dab76/IMG_8959.JPG Everly A smiling baby girl wearing a yellow headband with a bow, floral dress, and long-sleeve white shirt, being held by an adult. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/3cf1e8c2-0719-430a-a4dc-3767c5b36b4f/Photo+Jul+02+2023%2C+7+43+32+AM.jpg Everly A woman and a young girl with glasses sitting on a brown leather couch, smiling and hugging. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/9c7ecf44-fcc5-40ba-8353-73e99ba01562/IMG_0086.JPG Everly A smiling young girl wearing glasses, a birthday hat, a white top, and rainbow-colored tutu, sitting on a wooden chair. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1fcd7699-411b-4133-bcf1-019c2bada1ce/Photo+Jul+02+2023%2C+8+12+11+AM.jpg Everly A man and a young girl sitting outdoors in a green backyard, smiling, with the man embracing the girl who is wearing glasses and a green harness. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/871af230-927e-48aa-b894-700f55abba96/IMG_4375.jpeg Everly A young girl lying in a hospital bed with medical tubes and equipment, wearing a colorful hospital gown, covered with a blue pillow and a blue foam pad on her legs, with rainbow-colored rings beside her. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/9fd3e20b-e634-4644-b8fd-0983c1546bc9/Photo+May+12+2024%2C+3+41+53+PM+%281%29.jpg Everly A young girl lying in a hospital bed with balloons around her, some with birthday-themed designs. 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lying in a hospital bed with medical tubes connected to her, wearing glasses and a hospital gown with a dog pattern, with a colorful tray of rings nearby. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/9b1a851c-be0b-4d5b-a697-8b197f92e01c/C467A344-6961-428F-9ABD-7B4A75EB6AF8.jpg Everly A young girl in a hospital chair wearing glasses and a nasal cannula, covered with colorful blankets, with medical equipment nearby. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/85916761-65db-4667-b1b1-dad70cc4106e/green+family+040.jpg Everly Three children lying on a bed, smiling and making playful faces, with a cream-colored quilted bedspread. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/d8f0509d-91f5-4fe1-889f-a88b38b19f70/image000000%282%29.jpg Everly A young girl in a pink shirt with a bionics headset attached to her head, sitting in a specialized wheelchair with arm supports in a hospital or medical facility. 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https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/4812aabe-b4b0-4934-97e4-92bc1313beb1/IMG_4194.JPG Everly A young girl with glasses, blonde hair in pigtails, smiling widely with missing front teeth, wearing a colorful shirt and sitting in a high chair with arms raised. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/122c11a6-cc6c-4ae6-9262-5a6e2b41d37d/IMG_5884.JPG Everly A young child with blue eyes lying in a hospital bed, wearing a white medical cap and blue hospital gown with animal print, holding a pacifier in his mouth and looking at the camera. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/d44866d1-f771-472c-8996-fa611379d795/IMG_6103.jpeg Everly A man wearing a face mask holding a young girl in a hospital room. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/6ddb22cc-80d5-4275-92a8-edc6b5d57cc1/IMG_6402.jpeg Everly Child with medical equipment in hospital bed, lying with head and upper body propped up, legs in braces, connected to various tubes and monitors, with photographs on wall in background. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/669febd3-0542-46a5-968b-4cba0a81eafc/IMG_6842.JPG Everly An elderly woman with short white hair and a young girl with glasses sit together. The elderly woman is holding the girl on her lap, and they are engaging in a close, affectionate moment indoors. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/9a4d611a-20a1-4f95-be8d-0ef9ae304c89/IMG_6950+%281%29.jpg Everly A young girl in a hospital bed with a walker supports a nurse or therapist as they prepare for a therapy session in a hospital room. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/3a9bab30-aeb3-4e4c-8d86-2ed01da1d08d/IMG_8915.jpg Everly A young girl with glasses and blonde hair smiling while being hugged by a woman with blonde hair in a kitchen. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/9ad662ab-4360-4535-bd50-82639f6fe578/Photo+Aug+04+2025%2C+11+57+45+AM.jpg https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/b0b9c137-e44e-429a-b05d-94b1d920a28d/Photo+Jun+23+2025%2C+12+27+00+PM.jpg 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https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/54fdb804-6043-439c-8e90-5c2779c2b69f/frrs1l+research+image.png https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/57fa5fdf-ea69-4bed-94a1-63456fb75ed1/globe_white_icon.png https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/dc89c030-c569-4cf7-8f6e-381010ca3fed/disease.png https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/fc950f92-599d-41f1-b241-9912507af474/Providence+hospitl+with+feeding+tube+and+respiratory+distress.jpg What is Frizzle (FRRS1L) - Additional Resources FRRS1L gene disorder presents in children through epilepsy, progressive dyskinesis (abnormal movements), developmental delay, diffuse hypotonia, cortical and cerebellar volume loss, and gradual loss of responsiveness to the environment. For information on various types of seizures please check out the Epilepsy Foundation page on Seizure Types. For information on movement disorders please see Mayo Clinic movement disorders page. For information on developmental delays please see the CDC’s page on developmental disabilities. For information on Hypotonia please see the Boston children’s hospital page on Hypotonia. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/e228026e-721d-4013-843b-c98ce79eb38a/Photo+Nov+26%2C+4+15+10+PM.jpg What is Frizzle (FRRS1L) - REGISTER your Frizzle Child/Children By registering your child/children with Finding Hope for FRRS1L, it provides valuable information that will help us better understand and track the global map of the Frizzle (FRRS1L) community; it will inform researchers; and it also allows us to keep you informed through email updates and news on the progress towards clinical trials for gene replacement therapy. Registering your child is completely optional. https://www.frrs1l.org/research daily 0.75 2026-02-16 https://www.frrs1l.org/treatmentdevelopment daily 0.75 2026-02-16 https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/4695cf41-d1b9-43a8-953c-fc2cdbf63d29/treatment+development+process.png https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/4215cc08-3375-47a7-8c88-8786f17175bd/Photo+Oct+05+2025%2C+11+01+49+AM+%282%29.jpg https://www.frrs1l.org/register-1 daily 0.75 2026-02-07 https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/e228026e-721d-4013-843b-c98ce79eb38a/Photo+Nov+26%2C+4+15+10+PM.jpg Patient Registration - REGISTER your Frizzle (FRRS1L) Child By registering your child/children with Finding Hope for FRRS1L, it provides valuable information that will help us better understand and track the global map of the FRRS1L community; it will inform researchers conducting a natural history study of FRRS1L; and it also allows us to keep you informed through email updates and news on the progress towards developing gene replacement therapy treatment. Registering your child is completely optional. https://www.frrs1l.org/how-to-help-1 daily 0.75 2025-12-17 https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/d383abe9-17ac-4e2c-ba4f-95b95fc42f25/give.png Help Us https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/f57a9451-db0e-4b73-88ad-6dbc828a4a63/share.png Help Us https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/bb386872-6255-4d29-83da-d93331a7cc89/ambassador.png Help Us https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/d4eb849d-5728-4444-af1c-4395955edffa/hands.png Help Us https://www.frrs1l.org/mission daily 0.75 2026-02-14 https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1637473283140-L7CON1NOG0E3TYJCHYSX/Find.png Mission https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1637473294725-987XHKFHV61G6L7J4YH3/HOPE.png Mission 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healthcare professional standing nearby in a hospital room. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/c4e30e2e-b8f3-4fae-9535-9dca1b4bd971/Providence+EEG.jpg Information for Donors Close-up of a young child with an oxygen tube on their nose, wearing a hospital cap and colorful hospital gown, lying in a hospital bed. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/dac747ce-ff83-4502-a888-2e7a0ca66c17/Photo+Feb+19%2C+5+22+42+PM.jpg Information for Donors Young boy sleeping in bed with a nasal oxygen mask attached to his face. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/dbb05f1f-5625-43b0-bd5b-a722d5dcc232/20240503_132452.jpg Information for Donors Young woman in a wheelchair, wearing a red sleeveless top and denim shorts, holding a remote control near her face with her mouth open, sitting indoors with sunlight coming through a door. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1716481247454-SQQUMDNPSAL0QK05DIDF/Screenshot_20220421-040947_Facebook.jpg Information for Donors A young girl with dark hair wearing glasses is resting in a hospital bed. She has a breathing tube and is holding a Minnie Mouse plush toy. The background has colorful paper hearts taped to the wall. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/0361c142-d6fc-4728-9f4c-aeaed2cb22bc/image3.jpeg Information for Donors A young girl with curly hair smiling while sitting in a wheelchair in a living room. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/f23b152e-965b-4cfd-89b6-50a9d13193bc/IMG_4375.jpeg Information for Donors A young girl lying in a hospital bed with medical equipment attached, wearing a colorful hospital gown, with her eyes closed and an IV in her arm, surrounded by hospital supplies and monitors. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/79019216-ad8f-45ae-ae30-5c658c7f1f1f/Photo+Sep+15%2C+7+51+00+AM.jpg Information for Donors Young girl lying in a hospital bed with a medical IV attached, smiling and wearing a pink sleeveless shirt with colorful flower and unicorn prints, with a pink hair bow decorated with butterfly and star shapes, resting her head on a pink and blue pillow. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/75de602a-fe8e-479b-92e2-95a683868f22/PicsArt_08-26-05.21.39.jpg Information for Donors A young girl with dark curly hair sitting in a walker with a tray table. She is wearing a black and gray sensory vest and has a colorful toy on the tray. The background shows a living room with a brown sofa, a floor lamp, and a closed door. The word 'Antes' is written in white at the bottom of the image. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/44a1cc31-2c70-4099-b8ab-df40d9712248/IMG_6771.jpg Information for Donors Young man with disability sitting in a wheelchair with a head support cushion, surrounded by colorful toys and a mobility aid, in a living room with a brown couch and window blinds. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/0c1cb7cc-9fba-49b3-9907-5c7ba3b2956b/IMG_0085.jpg Information for Donors A young child lying in a hospital bed, smiling, with a bandaged head and wearing glasses, dressed in a colorful cartoon-patterned hospital gown. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1716481309002-IM8DVZ5FURA2W0FGMDBR/IMG_6789.jpg Information for Donors Young girl in a pink and black wheelchair being examined by a medical professional. The girl has glasses and looks slightly unwell. The room has various medical and craft supplies. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/97bf6876-b483-47a7-a1d1-0cdc84649a01/IMG_6773.jpg Information for Donors A young girl in a wheelchair covered with a pink Mickey Mouse blanket, wearing a hospital gown, in a hospital room. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1716481268347-0L5SNQVUT9M0SXGREGF3/25c7bb86-dc79-4013-a740-1e9c7157cc4d-1_all_1284.jpg Information for Donors A young boy with short dark hair in a wheelchair indoors, looking at the camera with a sad expression, wearing a colorful shirt and gray pants. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/125cb999-e59e-4079-90ca-d7678560e1c9/Foto+7-9-21+10+28+34+a.%C2%A0m..jpg Information for Donors Young boy in a wheelchair at a therapy or medical facility, wearing a gray Nike shirt and a specialized blue harness or vest for support, with a nasal oxygen tube, in a room with colorful tiles and exercise equipment in the background. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/9103a466-3595-4149-a4f7-0d4400eeae59/PicsArt_08-26-05.05.22.jpg Information for Donors A young girl sitting in a wheelchair with a pink blanket behind her head, wearing a white t-shirt and light-colored pants, with her eyes half-closed and lips pursed. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/a8785c45-bf04-43b1-9fe8-1d626c5104fd/Providence+hospitl+with+feeding+tube+and+respiratory+distress.jpg Information for Donors A woman with glasses leaning over a young boy in a hospital bed, who is connected to medical devices and wearing a neck brace, with colorful cartoon patterns on the bedding. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/8144c136-d69c-45d6-aad6-630b08698a59/IMG_8131.jpg Information for Donors A young girl with a nasal oxygen tube, lying in a hospital bed, wearing a white knit hat and cozy pajamas with a unicorn pattern. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1716513775688-L5T8D8CK8NLY7TZ62P0X/PicsArt_08-26-05.07.31.jpg Information for Donors A young girl with a nasal oxygen tube smiling, wearing a pink dress, white shirt, and beige sandals, sitting on a pink and white patterned blanket. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1716513810693-3MY4J0YLPQO6BRTDNMXR/PicsArt_08-26-06.05.08.jpg Information for Donors Infant in a hospital bed connected to medical devices, with a blanket covered in pink and purple circles, and a sign indicating the bed's position. https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/3ea3fa04-539d-488b-b874-b97b1342004c/Mountain+image_20260209.png https://www.frrs1l.org/clinical-trial daily 0.75 2026-02-15 https://www.frrs1l.org/webinarvideo daily 0.75 2026-02-18 https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/2622671f-7069-44f5-b066-48170278a73e/Frizzle+and+CapX_new+logo_v3_screenshot.png https://www.frrs1l.org/frrs1ltfr1capx daily 0.75 2026-02-18 https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/2622671f-7069-44f5-b066-48170278a73e/Frizzle+and+CapX_new+logo_v3_screenshot.png https://images.squarespace-cdn.com/content/v1/6199b89cf1d89463ad3d4203/1e6da50c-176e-4089-8df1-f95e27515ed9/Apertura+artwork-27.png