Hi, my name is Maureen and my son Kole (22 months) just received a diagnosis of 4H Leukodystrophy last month after over a year of trying to figure ot what was causing all his issues. We started noticing delays at three months. We live in California and have amazing specialists following him, however none of them are very familiar with his genetic disease. Most cases that I have read, the childrwn affected with 4H did not show symptoms until later in life. Koles onset was very early. I will be attending the Hunters Hope Symposium in July, unfortunately Kole is not healthy enough to go with me. :( I am reaching out to see if there are other families with a child affected with 4H that can help me with resources for information. I have found it difficult to find information on this specfic Leukodystrophy. Any information would be greatly appreciated. We are trying to learn as much as possible about this disease so we can ensure our little Kole-Bear has the best quality of life possible.
3 days ago
Adult Refsum Disease is an ultra-rare Leukodystrophy. Global DARE Foundation was recently founded to support individuals with Adult Refsum Disease. Our mission is to promote world-wide awareness and better quality of life for all who are diagnosed with Adult Refsum Disease. You can find out more about Adult Refsum Disease at our website: https://www.defeatadultrefsumeverywhere.org/ We are hosting our first conference in London on May 15, 2020. We can use help finding more patients. Please share with anyone that may benefit. We will also be at the United Leukodystrophy Foundation conference in June.