A Father’s Plea

 

Tax-deductible donations at #Hope4KB Research Fund

4 thoughts on “A Father’s Plea”

  1. Thanks for telling your story. It comforting to know that others have similar situations. My 10 year old daughter has a rare form of mitochondrial disease (MT-ATP6 mutation). Do you think that EPI-743 is making a noticeable difference? It seems that you are doing a wonderful job advocating for your daughter. Would you recommend any treatments that have been beneficial? I wish your family all the best.

    1. Thank you for contacting us, Brian. EPI-743 has helped some and the Mito cocktail has helped. We are currently funding research at the Children’s Hospital of Philadelphia to study zebrafish to gain an understanding of the natural history of her mutations. They will also test FDA approved drugs on the zebrafish to see if any help. Please feel free to reach out to us at anytime. You may email us at nubpl.org@gmail.com. Our best to you and your family.

    2. Thank you for contacting us, Brian. EPI-743 has helped some and the Mito cocktail has helped. We are currently funding research at the Children’s Hospital of Philadelphia to study zebrafish to gain an understanding of the natural history of her mutations. They will also test FDA approved drugs on the zebrafish to see if any help. Please feel free to reach out to us at anytime. You may email us at nubpl.org@gmail.com. Our best to you and your family.

  2. I love reading your daughter’s story. My best friend has this disease and I know it doesn’t limit her, we go to concerts together and we are always goofing off and laughing. Do not let anything doctors say limit you though, my best friend wasn’t supposed to make it to 13. She’s turning 20 in four months. I know my friends struggles and I watch her ache and hurt all the time but she will not stop living to the fullest she can. I am amazed at her strength and her families, because now she’s a adult she can’t go to the hospital she used to for help. And none of her doctors know what to do since her case is the only one in America, living this long with M1. I hope someone can find something soon so she will not hurt all the time like she does.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s