I’ve had so much support and visitors following Hannah’s story, that I felt it would be important to share the struggles and stories of other parents with children with rare diseases that most of you have not heard of. So every Friday, I’m going to highlight another special child like Hannah.
Addi and Cassi Hempel are twin 5-year-old girls and both have Niemann Pick type C. Their mom, Chris, who I call the NPC Supermom, was one of my biggest strengths of support and advocacy since NPC was placed on the table for Hannah. She reached out to me and offered so much wonderful advice, and even with the Gaucher’s diagnosis, she is still there offering her expertise. She is a TRUE advocate. What she has done for the research of NPC is awe-inspiring, and I can only hope to live up to her gusto and drive to fight.
Most recently, she is trying to get FDA approval for a brand new possible treatment for NPC. On paper, it makes perfect sense! She is willing to try it with her girls, I just hope that FDA gives her the chance to try and save their lives. They are beautiful little girls.
Please take a moment to visit Addi and Cassi and offer your support and prayers and peruse her site. To say it is a wealth of information for NPC is putting it mildly. Niemann Pick type C is a devasting and horrific disease, and after having lived with that as the lead diagnosis for almost two months, I will continue to fight for these very special children.
If you know of another family with a child with a rare life-threatening or life-limiting condition, please email their blog/website info at the “contact” button above.
** To those of you with blogs, PLEASE highlight these children in your blogs with me each Friday either offering a link to their story on my site or by copying the information and posting directly on yours. Or if you know of another parent with a blog for their child, you can highlight them. We bloggers CAN make a difference!
What a wonderful idea–It is so important to get the word out… There are many people in the blogging community that want to help families in need and advocate as well for treatment and cures. I believe you are right–bloggers can make a difference!
Carrie,
I read your comment on my blog. I am sorry that you are having to face this with such a young child. It isn’t going to be easy for you since she really doesn’t understand what is happening.
I have 3 brothers and 3 sisters. 2 of us girls and 2 of the boys have Gaucher,s. I was diagnosed at age 23, my sister are age 34, one of my brothers at 40 and the other at 50. My sister and the youngest brother are all on ERT. My next older brother would never take the treatments and at age 59 he is in a wheel chair and a lot of pain. He just refuses the treatments.
I have been on ERT for 8 years, my sister has been on it for probably 14 years. About 3 years ago, I went into a study progam where I started taking my treatment once a month vs. twice a month. I feel as if this has given me more freedom. It really makes a difference in your quality of life. The price is definitely outrageous. Fortunately, my husband is retired military so we have really good insurance. Have you contacted the Gaucher foundation? I know that they sometimes help. And my old home health care agency would write off some of it because they were contracted througe Genzyme.
I am thankful that they are always looking for new treaments and cures and hope that some day they will find a cure. Until ERT is the only hope there is.
If you have any other questions please feel free to contact me through my e-mail. Just put Gaucher’s in the subject line.
how wonderful of you do be reaching out for others