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United Mitochondrial Disease Foundation
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Добавлен 3 фев 2020
The United Mitochondrial Disease Foundation (UMDF) powers the research, education, and support that is advancing treatments of patients and families affected by mitochondrial disease disorders.
Our MELAS Story: The Hauner Family - Our Diagnostic Journey
This video series is designed to showcase the burden of living with MELAS, with hopes of helping the public understand the disease and ultimately helping industry and researchers understand priorities for future therapeutics. In this video, Alysia and Chelsea Hauner describes their family's journey to Chelsea's diagnosis of MELAS.
Просмотров: 102
Видео
Powerhouse Podcast #31: Run4Raley
Просмотров 3121 день назад
The July 2024 Powerhouse Podcast features Leslie Kirby, co-founder of Run4Raley, as the Kirby family is heading into their 17th year of their fundraising event in Philo, IL. Leslie shares about the work they've done as a tribute to their daughters, Raley and Aubree, at their local hospital and in fundraising for UMDF to help other families like them. Learn more about Run4Raley and Hope4Aubree a...
Mitochondrial Medicine 2024: Ask the Mito Doc Panel
Просмотров 137Месяц назад
Ask the Mito Doc Panel Session Moderator: Amy Goldstein, MD, Children’s Hospital of Philadelphia Panel: Austin Larson, MD, Children’s Hospital of Colorado; Bruce Cohen, MD, Akron Children's Hospital; Peter McGuire, MS, MD, National Human Genome Research Institute; Melissa Walker, MD, PhD, Mass General Hospital for Children; Jennifer Yang, MD, Rady Children’s Hospital San Diego; and Ibrahim Elsh...
Mitochondrial Medicine 2024: What to Expect - LHON Edition
Просмотров 1482 месяца назад
Join the UMDF Staff and learn to expect for LHON Conference attendees at Mitochondrial Medicine 2024, the UMDF's annual conference, this year held in Cleveland, Ohio. #mitomed2024
Ask the Mito Doc - May 2024: Guide for the Newly Diagnosed
Просмотров 2472 месяца назад
Ask the Mito Doc - May 2024: Mitochondrial Disease Primer - Guide for the Newly Diagnosed
What to Expect at Mitochondrial Medicine 2024
Просмотров 1362 месяца назад
Join the UMDF Staff and learn to expect at Mitochondrial Medicine 2024, the UMDF's annual conference, this year held in Cleveland, Ohio. #mitomed2024
Our MELAS Story: The Sterchi Family - Hope for the Future
Просмотров 1032 месяца назад
This video series is designed to showcase the burden of living with MELAS, with hopes of helping the public understand the disease and ultimately helping industry and researchers understand priorities for future therapeutics. In this segment of "Our MELAS Story," the Sterchi family talks about Brady's abilities, their commitment to #clinicaltrials, and their Hope for the Future. Learn more abou...
Our MELAS Story: The Sterchi Family - Our Daily Life
Просмотров 1373 месяца назад
This video series is designed to showcase the burden of living with MELAS, with hopes of helping the public understand the disease and ultimately helping industry and researchers understand priorities for future therapeutics. In this video, the Sterchis describe their daily life with Brady attending high school.
Bench to Bedside - May 2024: What to Expect at Mitochondrial Medicine 2024
Просмотров 1183 месяца назад
Bench to Bedside - May 2024: What to Expect at Mitochondrial Medicine 2024 June 26-29, 2024 Cleveland, Ohio Hilton Downtown Cleveland
Powerhouse Podcast #30: #MitoMed2024 and Mother's Day with Becca Johnson
Просмотров 903 месяца назад
At the beginning of this Mother's Day Special Episode of the Powerhouse, UMDF's Cassie Franklin and Kara Strittmatter give a quick overview of exciting things to expect at #MitoMed 2024 in Cleveland. Then, we meet our special guest for this episode, Becca Johnson mito mom to Vera, caregiver, teacher, wearer of many hats and a true POWERHOUSE. Becca shares important insights on living for experi...
Our MELAS Story: The Sterchi Family - Our Diagnostic Journey
Просмотров 2703 месяца назад
This video series is designed to showcase the burden of living with MELAS, with hopes of helping the public understand the disease and ultimately helping industry and researchers understand priorities for future therapeutics. In this video, Steve and Jamie Sterchi describes their family's journey to their son's diagnosis of MELAS.
Ask the Mito Doc - April 2024: MELAS 101
Просмотров 3513 месяца назад
Ask the Mito Doc - April 2024: Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) 101
Powerhouse Podcast #29: Pierrepoint and the Mito Fund
Просмотров 793 месяца назад
In this latest episode, join UMDF's Brian Harman and Dr. Philip Yeske in a talk with guests, Todd Lacey from the UMDF Board of Trustees and Dan DiPietro, Co-Founder of Pierrepont Therapeutics. On the advent of The Mito Fund's inaugural investment in Pierrepont's enzyme replacement therapy for patients with MNGIE, they share insight on the potentially game-changing research investment and new st...
UMDF: mitoSHARE, the worldwide patient-populated registry
Просмотров 423 месяца назад
UMDF: mitoSHARE, the worldwide patient-populated registry
UMDF Mitochondrial Medicine: Why Should I Attend the Conference?
Просмотров 343 месяца назад
UMDF Mitochondrial Medicine: Why Should I Attend the Conference?
UMDF Mitochondrial Medicine: The Impact of the Conference
Просмотров 333 месяца назад
UMDF Mitochondrial Medicine: The Impact of the Conference
Our MELAS Story: The Strosnider Family - Our Daily Life
Просмотров 1804 месяца назад
Our MELAS Story: The Strosnider Family - Our Daily Life
Our MELAS Story: The Strosnider Family - Our Diagnostic Journey
Просмотров 2524 месяца назад
Our MELAS Story: The Strosnider Family - Our Diagnostic Journey
Bench to Bedside - April 2024: Clinical Trial Readiness
Просмотров 1154 месяца назад
Bench to Bedside - April 2024: Clinical Trial Readiness
Ask The Mito Doc - March 2024: Clinical Trial Readiness - Preparing for 2024 and Beyond
Просмотров 1564 месяца назад
Ask The Mito Doc - March 2024: Clinical Trial Readiness - Preparing for 2024 and Beyond
Powerhouse Podcast #28: Divakar Mithal, MD, PhD
Просмотров 2034 месяца назад
Powerhouse Podcast #28: Divakar Mithal, MD, PhD
Ask the Mito Doc - February 2024: ICU/Anesthesia and Mitochondrial Disease
Просмотров 2135 месяцев назад
Ask the Mito Doc - February 2024: ICU/Anesthesia and Mitochondrial Disease
Mitochondrial Medicine 2023: Rethink Medicaid: Government Programs & Medicaid Waivers (RE-RECORDED)
Просмотров 816 месяцев назад
Mitochondrial Medicine 2023: Rethink Medicaid: Government Programs & Medicaid Waivers (RE-RECORDED)
Powerhouse Podcast #27: Heather Gatcombe, MD
Просмотров 1816 месяцев назад
Powerhouse Podcast #27: Heather Gatcombe, MD
Ask the Mito Doc - January 2024: What is Primary Mitochondrial Myopathy?
Просмотров 3207 месяцев назад
Ask the Mito Doc - January 2024: What is Primary Mitochondrial Myopathy?
Bench to Bedside - December 2023: Mitochondrial Disease Clinical Trial Updates
Просмотров 3628 месяцев назад
Bench to Bedside - December 2023: Mitochondrial Disease Clinical Trial Updates
Ask the Mito Doc - December 2023: Wrapping Up 2023 with the Mito Docs
Просмотров 1928 месяцев назад
Ask the Mito Doc - December 2023: Wrapping Up 2023 with the Mito Docs
Powerhouse Podcast #26: Cousins for a Cure 2023
Просмотров 1188 месяцев назад
Powerhouse Podcast #26: Cousins for a Cure 2023
My daughter Heaven is 21 years old and she has Leigh's Syndrome T-G 8993 with 98/100%mutation complex5. Any suggestions for helping me treat her?
I have MELAS and seizures, cognitive decline. If I could stop one thing it would to never have anymore strokes
Thank you Becca for such a loving sharing of your beautiful family on Mothers' Day! <3
As someone who has MELAS, I appreciate and respect your family sharing this❤
I joined early on. I have MTHFR c677t... pharmaceuticals are not my answer.
Very nice to see this. I use the insight time app and am a doctor of divinity. Many thanks. DNA changes and breathing is especially powerful. 🙏🏽🦋🦋🦋🦋
so now we have an explanation for why children with autism do not look at the eyes, close one eye, or are hypo and/or hyper-sensitive. thank you
I was recently diagnosed with MELAS, thank you for sharing your story ❤
Is normal to feel pain in your teeth and swollen gums I have mitochondrial disease MELAS??
I'm MTDPS4B or MNGIE related PolG gene
i have Polg 1. dx causing CPEO Do u have trouble walking? thx Becky
Drug approval? Where do I begin?
you do a clinical trial. Its hard to get dx but there are opportunities to get genetic testing.
Saw this podcast by chance-what posted on Luries Facebook page and clicked to see---ironically we are trying to figure out what is alien our child as we know she has some sort of metabolic disorder. The little bit that was shared in this sounds so much like our daughter. Thank you for sharing this as I am bringing it up with her doctor asap. We are on track now as her doctor also agrees that she possibly can have some sort of mitochondrial disorder….. I would love if there’s any other information websites or doctors we should reach out to. She is a patient at Luries but as she doesn’t have a specific diagnosis, so not part of any certain program or clinic yet.
I understand time is limited but plz slow down to where we can hear everything said.
Where can I get information on adults like myself?
Unbeliveble stupid.
Can you do a video on how to talk to your doctor if YOU, as a patient, suspect mitochondrial disease? Medical gaslighting is rampant in my community, and being a brown, obese, autistic woman doesn't help. I can't find anything short that a provider will actually look at during a 5-10 minute GP appointment, which is about all anyone ever gets nowadays. In this day and age, when providers don't have time to sit down and read an extensive paper or sift through a website, it is essential to be concise. Our research hospital (University of New Mexico Hospital) just made national news by getting an F on a Leapfrog assessment, and my neurologist has never done an actual neurological function exam in the three years I've been seeing him. He just interrupts me and tells me to talk to my PCP. This is the quality of care in the USA. Please help.
Propofol almost killed me. I cannot have it ever again.
And the second to last time I had surgery (even with not using propofol l), my heart tried to stop, needed CPR, epi… now I need the external pacers stuck to me every surgery since.
There is a rx CBD, I don't remember the brand name, I was checking the scheduling of new meds and saw a schedule 5 cbd? Or a thc that's a C5?.... no it shocked me enough that I remember it was there. Like
Please get over it. There are genetics who don't tolerate medication. I use exercise.
Great presentation
Hopefully, one of the guests may read this. Q: How would you feel about making hyper alimentation available to the body? One of you mentioned quality nutrition being important, why not take it up a notch? Thank you
This is amazing I can’t thank you all enough!
🙈 *Promo sm*
Careful, that free cardiac test they give at the beginning is a doozy!
amazing
I would love to have some of those questionnaires.
When will American doctors take this seriously?
So how fo we no if its mitochondrial desease or dysfunction they say fybromyalgia cfs is dysfunction
I was diagnosed with MELAS. It took yrs for my doctor to get the proof of my MELAS. I finally was diagnosed with my genetic testing and 3 muscle biopsies. I‘ve crashed many times. This is one nasty disease.,
What are markers of oxidative stress? Dont know if have mito problems but anemia runs in family and have been trying to reduce again fatigue (which seems to change hourly to ok energy), by checking what foods help. In past, eating liver, but in last 2 years not crave it like before. ALso iron labs high in last year, but ferritin 34 (and high TIBC !). While researching possible high B12 meaning, papers out that many B12 lab analyzers use antibodies and if a person has those AB than incorrect results. They mentioned 500> is ok, that MMA urine lab is best if concerned about B12(or serum). It is also part of a OAT , so I might ask Dr to test that or buy it myself online. For folate , homocysteine lab (urine or serum). Can oxygen for this be measured with an oximeter?
my son has mitochondria KSS
i need help my son has mitochondrial KSS is there any treatment 😢
can my son participate he is from Egypt 24 years mitochondria KSS he can't walk alone has no balance can't write also
Thank you so very much 😊
Thank you UMDF for all that you do!!! xoxoxoxoxoxo
If you test negative for the r300.1 genetic muscle biopsy test do you definitely not have a mitochondrial disease? Or is there other tests for it ?
I was finally diagnosed bc I was sent to a younger neurologist who immediately suspected this is what was going on. So after genetic testing and muscle biopsies he was definitely right with his diagnosis. Now I have learned to live with it.
Anything for KSS??
I'm 56 years old and about 6 months ago I was diagnosed with KSS. I was told that I had a mitochondrial deletion rate of 50 percent. It's strange because it all started with extreme pain in my left foot and some weird blood tests. I had two biopsies and after the second one they were able to determine that I had this mitochondrial myopathy. The pain on my left side is getting worse and worse and I'm having trouble keeping my balance very well though it doesn't show a whole lot yet to most people. For the most part people just see that I'm limping. My syndrome is extremely rare and so I don't have a lot of people to exchange information with. It seems as if I'll probably die in the next few years of a heart attack or some other organ failure problem but right now my organs are working okay. My muscles have definitely been the problem so far and I've also had a huge problem with swallowing. I swallow are and saliva and foods and drinks improperly and end up choking all the time. There's no cure and it's just a slow deterioration. It's very hard to know how it's going to conclude but I'm doing okay in the moment.
@@jimmydelen2023 actually KSS is famous for its effect on all of your vital organs. Most people with this disorder will die of a heart attack but they will also go blind if they live long enough. I don't know where you got your information from but you can simply Google "KSS" or Kearns Sayre Syndrome and see that the prognosis is very very bad.
Are testing like genova metabolomix helpful to know what needs help in nutrition> measures fatty acid, ROS, organic acid urine... ?
So grateful for this!!!!!
It's amazing how on-the-nose some of this stuff is. My whole journey started with extreme left foot pain and everybody thought it was caused by a back surgery I had a few weeks before the pain started. Luckily or unluckily my blood tests were really strange and my primary started thinking that I might have some form of mitochondrial myopathy. I had an initial biopsy in my right thigh which sowed some strange things but they couldn't put it into the lab at the category at that point though everybody was starting to think that was going to be the answer. I had a second biopsy into the already damaged left foot and a geneticist came back and told me that I had KSS. I won't go into detail because you can just Google it but it's a pretty crappy diagnosis to have. It's a deletion of the mtdna which causes all sorts of muscle and organ problems. I'm glad that I know what it is and that my primary doctor kept referring me over and over to different specialists until we finally found out. By the end of it my primary had left the clinic and I was with somebody else but I was very happy he was there to help me move through the system and get a diagnosis even if that diagnosis was bad news.
My daughter had feeding, fine and gross motor developmental delay. Balance problems. She is 30 now she has 8993tg ragged red fibers elevated lactic in acid CSF fluid. She also has RP. Hearing loss her mri shows basal ganglia is showing.
Leigh's
Any questions just ask
I have disease and 41
I can't get the sound to play. I would really love to hear the information!
Ok, why is it we are supposed to trust doctors feelings, and data that does not include mrna vaccines, OR mitochondrial disorder and apply that data to mito disored and mrna vaccines ? just some feedback here.....it dosent encourage people with mito disorders to take gene therapy aka mrna vaccine technology seriously.
💚