Comments on: Niemann-Pick Disease Type C

By: Our Doctors | The Addi & Cassi Fund

Our Doctors | The Addi & Cassi Fund — Sat, 04 Jul 2009 21:00:55 +0000

[...] Dr. Mark C. Patterson Mayo Clinic Department of Neurology Rochester, Minnesota Listen to Dr. Patterson describe NPC disease [...]

By: Eric

Eric — Fri, 03 Jul 2009 22:37:39 +0000

Mrs.Hempel,

Nicely written. Sounds like Dr.Patterson is a real trooper regarding Niemann Picks C. Who would you recommend for consultation for Niemann Picks type A?
Eric

By: Lee Aase

Lee Aase — Mon, 29 Jun 2009 16:01:09 +0000

Thanks for your comment/question. I will pass along to our relevant medical staff.

By: Kathy W

Kathy W — Mon, 29 Jun 2009 15:49:28 +0000

I am a mom of a 22 year old daughter who has exhibited most all of the above mentioned sysmptoms with a seizure disorder which began aout 4 years of age. Many Physicians have been puzzled by her and unable to treat her. She seemed physcially ill many times while the pediatric M.D. would be unable to find answers. She has been told she has Lennox Gastaut. However now looking back she may fall in this category. I am a R.D. and have used diet, medication and alternative treatments to get her through many times when Dr.’s gave up. What is the best way to get her tested? She was once bedridden without bladder control and unable to recognize her family. She is now back walking and communicating with some short term memory loss and occassional seizures. We believe there is more to be revealed.

By: Alexandre Dourado

Alexandre Dourado — Wed, 20 May 2009 17:08:59 +0000

Dr. Patterson,

I’d like to congratulate for this excelent video, and ask your permission to translate and post this video on Youtube with portuguese subtitle. And them publish it in our Blog of Brazillian’s families affected by this desease, with all references to your work and Mayo Clinic.

Thank for your atention.

Alexandre Dourado

By: cathy muntz

cathy muntz — Thu, 07 May 2009 09:40:22 +0000

I have just returned from the funeral of the
beautiful life of Jasmine Louise Clifford, born 8th April 1995.(Australia)I have never fully understood the illness she suffered, but having watched your video this evening I feel better informed and will endeavor to donate what I can to help find a cure for this tragic illness.

God bless you Jazz

By: turan özdil

turan özdil — Tue, 14 Apr 2009 13:35:54 +0000

mrb ben türkiyeden turan kızım npc hastası zavesca ilaç kullanması hastalığın ilerlemesini durdururmu. teşekkür ederim.

By: Débora Fernanda Bass

Débora Fernanda Bass — Fri, 06 Mar 2009 01:11:12 +0000

Hello, I wonder if a diet low in carbohydrate can minimize the symptoms of Niemann-Pick Disease Type C?
Thank you!

Débora Basso
Curitiba-PR/Brazil

By: CBS News Features Mayo Patient with Niemann-Pick Disease Type C « Sharing Mayo Clinic

Tue, 03 Mar 2009 14:59:54 +0000

[...] into this disease. You also can see an extended interview with Dr. Patterson, in which he describes Niemann-Pick Type C in more detail, on the Mayo Clinic Podcast [...]

By: Marc Patterson

Marc Patterson — Mon, 02 Mar 2009 01:58:27 +0000

One of my colleagues who monitors the website drew my attention to some comments to which I feel that I should respond. Firstly, thank you to those who made kind comments; I am very glad if the video has been helpful to you and other families.

I cannot make recommendations regarding therapy for children I have not examined, but I can make some general remarks. Unfortunately, we have no definitive therapy for NPC at the time of writing (March 2009). Miglustat does appear to help some children and adults with NPC and has been approved for use in specified patients with NPC in Europe. Retrospective data presented at the WORLD Meeting in San Diego suggested that miglustat is of most benefit to adults with slowly progressive disease, and less helpful to children whose disease is progressing rapidly.

There have been no controlled studies in humans of other agents such as curcumin, anti-inflammatory drugs, drugs that correct calcium maldistribution, agents that inhibit apoptosis (such as imitinab), allopregnanolone or cyclodextrin, which have shown evidence of benefit in mice with NPC. These findings need to be interpreted with caution. Most show modest improvement in survival when given to mice that have not developed symptoms of NPC, in contrast to the case in humans, who are almost always symptomatic by the time treatment can be begun.

In response to one comment, if the genotype (i.e. both mutations) have bene identified in a child and his or her parents then it is possible to perform antenatal diagnosis in subsequent pregnancies.