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Niemann-Pick Disease Type C
This entry was written by jstreed, posted on July 11, 2008 at 9:08 pm, filed under Children's Health, Men's Health, Women's Health and tagged Mayo Clinic, Metabolic Disorder, Neurology, Niemann-Pick Disease, Patterson. Bookmark the permalink. Follow any comments here with the RSS feed for this post.
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27 Comments
Dr. Patterson:
Thank you so much for all you do for Niemann Pick Type C patients worldwide and for this explanation on the disease. I hope you and the Mayo Clinic can do more of these types of educational videos in the future to give updates on the basic science and treatment progress for NPC.
I also think it would be great to show people how you do exams with NPC kids and what you look for when making a diagnosis. It takes so long for a diagnosis — 2 years in our case since doctor’s in our area did not know what to look for. Also, I hope you can talk about spleen and liver enlargement as potential first signs for this disease.
Finally, I’d be happy to allow a video of you examining Addi and Cassi so that doctors can see real children and how the symptoms manifest (eye gaze palsy, ataxia, speech issues, etc).
Once again, thank you for the incredible care you provide to the NPC community!
Chris Hempel
Mom to Addi and Cassi
Identical twins with NPC
http://www.addiandcassi.com
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
Many thanks Marc for this excellent presentation on Niemann-Pick Disease Type C!
I am sure that it will be a very helpful resource for Niemann-Pick Support Groups, for families living with Niemann-Pick Disease Type C and for their health care providers.
Susan H Green
Research Committee Chair
National Niemann-Pick Disease Foundation
http://www.nnpdf.org
Thanks Dr. Patterson. This is a good idea. I am sending this link to all of my son’s doctors so they can see it too.
Keep going Mark!!!! many many thanks for your research so far and i’m sure if anybody can come up with the answer to this terrible thing it’s YOU.
Carl.
Dear Dr. Patterson, I thank you for your detailed explanation of NPC.
The one thing wich I missed is that some patients also have a schizophrenic disorder. We did discuss this during the meeting in Kassel, Germany, that one of the symptoms can also be the onset of paranoid schizophrenia. Right now we are struggeling with our Health Insurance in the US, Jaye is also insured over his Dad in the US, about receiving reimbursement for Jaye while he was in the clinic due to his mental disturbance before NPC was diagnosed.
I know that we will succeed. It is a matter of educating those that are not familiar with this disease and your statement is very helpful, the link can be send and therefore we have something to help educate the unknowing.
Jeannette Boonen
Mother of Jaye Hutyra (age 18)
residing in Germany since 13 years
Dr Patterson,
As I come from Australia, I can’t thank you enough for making this video. None of our local doctors know anything about NPC hence the importance of reinerating the general GP care for NPC Patients. Our doctor in Melbourne, Mark Walterfang, is nothing short of fabulous and I am aware of the contribution to the studies of NPC both you and he do to try and gain more information and work towards a cure for Niemann pick Type C.
Dear Dr Patterson
A really interesting insite. Everything you mention about NPC relates to our daughter.
We are glad after 7 years to have found a diagnosis but not this one. I hear there is also NP D – what is this?
Kind regards
Amanda Peacock
England
Moro no Brasil na cidade de Paulinia SP e tenho um filho com 16 anos chamado Bruno que tem niemann pick c
Moro em Mirador – Pr Brasil
Tenho um filho de 4,7 anos de idade e tem A doença de Niemann-Pick C, seu nome é Vinicius e hoje se encontra em ótimo estado de saúde, graças a Deus.
Dr. Patterson,
I can not thank you enough for the work that you are doing with NPC. After a 4 year uphill battle my son was just diagnosed. Your podcast helped me to know more about this terrible disease that my whole family is facing! I hope that we can find a local doctor that will as informative as you have been on here!
Thanks Again!
Dr.Patterson
I’m from Salvador, Bahia,Brazil and my daughter Alice was diagnosed with NPC three months after her birth. Now she is bedridden and presents all the symptoms you describe in this fabulous video. My family thanks God for your efforts to get the cure for NPC and hope it will be as soon as possible.
Alice is taking Miglustat 200 mg/day prescribed by Dr. Gilda Porta from São Paulo. Feeding is only possible with the help of a gastric tube and we can’t evaluate if she has a severe cognitive loss. She only comunicates by crying when every thing is wrong. She has seisures too.
In Alice’s case is it possible to control the disease with Miglustat?
I thank you for this video e for your research and hope it will benefit all people with NPC around the world.
Sorry for my bad English.
Kind regards
Maria Helena Dourado
Salvador/Bahia/Brazil
Dr. Patterson,
Iforgot telling you that my granddaughter Alice is four years old and that she is taking Miglustat since March 2007. She all pediatric assistence she needs. Now an then she needs pediatric home care because of the respiratory problems she frequently has.
Thank you again.
Kind regards
Maria Helena Dourado
Salvador/Bahia/Brasil
Dr .Patterson!
Thank you so much for the good work and hard work that you do for NPC! My sweet angel Cristina passed away 2yrs ago from this cruel disease!I didn’t have none of the medication you have now so I coudn’t give her anything but I’m happy that we have hope for the future..
I just want to ask you that you mention in th video about the npc1 gene and npc2 ,so if they allready know the mutation in my husband and I all we have to if we want to have a baby get the test in the pregnanacy ??
Thank you again for all your hard work !
Kind regards
Loredana Lezeu
Kitchener,Ontario.
Canada.(born in Romania )
Dr. Patterson,
Our great grandbabies, Brisan and Parker Stults are seeing you and we are so thankful for the help and support you are giving to their parents. We pray for a cure for this
awful disease. We so appreciate your podcast
and we send it to everyone we know to make them aware of Niemann Pick type C.
Our 2 great grandbabies are just beginning
this journey…we are hopeful you can help
them and their parents.
thank you so much,
grammy
http://www.BriParDun.com
Olá! tenho um filho de 14 anos q apresenta todos os sintomas de NPC, fazem 5 anos q procuramos por um diagnóstico e até agora não tivemos sucesso, peço encarecidamente às pessoas q lerem esta mensagem para entrarem em contato comigo, estou urgentemente precisando de ajuda! desde já agradeço.
Thanks for the above post and good luck. Here is a rough translation from the Portuguese:
Hello! I have a son of 14 years q presents all of the symptoms of NPC, do 5 years q we find for a diagnosis and so far did not we have success, I ask insistently to the persons q will read this message for will enter in contact with me, urgently I am need help! at once I thank.
Dr. Patterson,
Gostaria de informações sobre o novo tratamento para NPC chamado “Kurumin”. Tenho uma filha de 04 anos chamada Alice, que já vem fazendo uso do Zavesca há 02 anos.
Here is a rough translation of the post above – I would like information on the new treatment for NPC called “Kurumin.” I have a daughter of 4 years called Alice, who has been using Zavesca since 02 years ago.
Hi,
One of my cousins passed away at age 14 because of NPC and her younger sister is also diagnosed with it, age 13. How can we find out more about Miglustat and how it can be made available to her?
If you can please help my family please let me know.
Thank you
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.
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
mrb ben türkiyeden turan kızım npc hastası zavesca ilaç kullanması hastalığın ilerlemesini durdururmu. teşekkür ederim.
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
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
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.
Thanks for your comment/question. I will pass along to our relevant medical staff.
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