Welcome to the LAL Community. I don't have personal experience with CESD, but my son was born with Wolman's Disease so I have done research on both diseases. Please let me know if you have any specific questions because I may be able to either answer them myself or find the answer for you. Thank you so much for sharing your story and I hope you will feel comfortable sharing Amy's journey with us. Mary

Wolman's is actually much more rare than CESD if you can believe it. The information I was provided with said that Wolman's is 2 per million live births and CESD is 25 per million. Still ultra rare. As you know, it is such a challenge to locate other families experiencing these diseases. I have met two other mothers who lost their child to Wolman's. I do have other children, a 5 year old daughter and a 6 month old son. As this is a genetic disease, the literature states that the chances of having another child with this disease is 1 in 4. And that 25% chance does not change with how many children you have with or without the disease. There is more information at www.Synageva.com. They are researching this disease at the moment. These are very lonely diseases and I am hoping that this community will make it possible for more families to get in touch with each other. When our son was diagnosed, we felt like we were on a deserted island because nobody knew what this was. I am assuming you are working with some great doctors. My personal advise is to keep searching and be an advocate for your dauther. You can point your doctors to www.Synageva.com as well. There is a video just for physicians on there that explains the disease. Please keep me updated on Amy! Thanks for writing, Mary

Also, you may want to contact Franca Bargellini who is a member of this site. Her son has CESD as well. I think you should be able to send her a message. Let me know if you are not able to.

Hi Karen,  You have a precious little girl.  I am more than happy to share my story about my diagnosis and living with CESD.