We Love Our Jake
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Updates on MITO research
SUCCESS TO DATE
The National Institutes of Health (NIH) recently established a cross-cutting research initiative on the mitochondria that cuts across all the NIH institutes (an ROI Project.) In one of his last official actions, former NIH Director Dr. Zerhouni, recently testified before the House Energy & Commerce Committee about the importance of cross-cutting research initiatives as being the key to future advances in science and medicine.
Congress has also expressed its intent to further explore the far-reaching role that mitochondria play in a wide range of diseases. Report language included within the 2008 Labor, HHS Appropriations legislation “…encourages the NIH to intensify its research efforts into primary mitochondrial disease, which is also implicated in numerous other diseases such as Parkinson’s, Alzheimer’s, heart disease, diabetes and cancer. The Committee understands that intensified research into primary mitochondrial disease will help to further understand these other conditions.”
While some steps are being taken, there is a lot more opportunity and promise that could be realized with greater financial resources. Interestingly, research in Europe and Asia is proceeding in a much more intensive manner. Recently for example, China established a mitochondrial university.
HIGHLIGHTS IN RESEARCH
Until recently, the broad range of diseases that may be caused by mitochondrial dysfunction was not well understood or appreciated. A relationship between mitochondrial dysfunction and a wide range of disease states was known to exist, but whether mitochondrial dysfunction was responsible for the particular disease was still in question. This changed with the discovery that mutations of the mitochondrial DNA could cause certain diseases. For the first time, scientists showed that a single nucleotide change in mitochondrial DNA of a mouse led to the development of muscle weakness and progressive heart disease.
Research supporting the link between mitochondrial dysfunction and some of these other common illnesses includes:
• Mitochondrial coenzyme Q10 levels are reduced in patients with Parkinson’s disease and mitochondrial function in these patients is impaired.
• Results of the first placebo-controlled clinical trial of the compound coenzyme Q10 suggest that it can slow disease progression in patients with early-stage Parkinson’s disease.
• These findings are consistent with another recent study involving patients with early onset Huntington’s disease. These patients showed slightly less functional decline in groups receiving coQ10.
• Investigators believe coQ10 works by improving the function of the mitochondria.
• A drug once approved as an antihistamine in Russia improved thinking processes and the ability to function in Alzheimer’s disease patients. The drug works by stabilizing mitochondria.
• Cancers are also associated with defects in the mitochondria. Within the cell, signaling must occur between the mitochondria and the nucleus. When the signaling malfunctions, the defect can cause cancer.
• Researchers discovered that mutations in the mitochondrial DNA may play a role in tumor metastasis and suggests a possible new avenue for the development of a treatment to suppress metastasis.
• Researchers have found a very consistent decline in mitochondrial function that is found in diabetes and pre-diabetes.
• There is increasing interest in the possibility that mitochondrial dysfunction might play an important role in the etiology of autism. A subset of autistic children have already been shown to manifest biochemical alterations that are commonly associated with mitochondrial disorders, and a few have been linked to specific alterations in the mitochondrial genes.
It is clear that research into mitochondrial disease offers hope to the millions who are afflicted with these other common conditions and diseases
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HAPPY 5th BIRTHDAY JAKE
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KSI FOR JAKE
Each year, the United Mitochondrial Disease Foundation brings together clinical and basic science researchers sharing an interest in mitochondria from all over the world. Participants come from many fields, including biochemistry, genetics, neurosciences, cardiology, cancer, diabetes, nephrology, hematology, pediatrics and aging research.
During the symposium, patients and families meet others who, like themselves, are seeking knowledge. They may be parents or an individual with similar experiences or someone that lives close to them. Patient and family attendees are given many opportunities to meet some of the top mitochondrial specialists from around the world.
The symposium encourages the exchange of information and cultivates networking among physicians, researchers, patients and families. Meeting format typically consists of a four-day scientific program and a two-day patient/family program.The family had all intentions and was ready to prepare for this big event, but due to unexpected turn of events, they’re funds have been depleted. They were able to get an appointment with Dr. Cohen at the Cleveland Clinic in Ohio and could not pass it up for Jake. There, Jake was given the opportunity to meet with one of the best specialist dealing with mitochondrial, neuroscience, and genetics. He was able to get an MRI, EEG, and many other tests to help us understand where his condition is at this point so we can provide the best care to him. It was a long and enduring two weeks for the family and Jake but they’re happy they went.
With that said, KSI has stepped up to help this family in their time of need. We are asking for your donations to sponsor them at this symposium. KSI has sponsored teams to gaming events and profited nothing so why not put the money for a worthy cause. Everyone who donates should feel your heart grow and know that you’re helping someone else.
Kristy Goodwin is the Eastern TN UMDF Ambassador and this will be very beneficial for them due to the advanced knowledge the UMDF has provided. She will be able to come back with so much knowledge that it will be passed onto others who are involved with Jake’s care and to others who are affected. With such heartfelt understanding of this terrific cause, Tennessee’s governor has declared the third week in September “Mito Week”. Kristy rarely misses opportunities to learn and to teach about mitochondrial, so whatever we can do to help, WE MUST DO IT!
Thank you to everyone who has donated! Please continue to spread the word and do it because you want to not because we are asking. It means so much more to us and will to you too.
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Jacob's 4th Birthday
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April 15, 2008 - 9:00AM - 1PM
Tennessee State Capitol Building, Nashville, TN
The State of Tennessee has passed a resolution declaring April 15th as Mitochondrial Disease and Autisum Awareness Day on the Hill in Tennessee.
We are encouraging ALL members and their families to come to the State Capitol that day to raise awareness of mitochondrial disease in the Tennessee State Governement.
Families may want to make appointments to meet with their individual representative on that day. To find out who your senator or representative is go to www.legislature.state.tn.us. For general tips on communicating with your representative or senator go to www.legislature.state.tn.us/senate/members/Communication.pdf.
It has also been suggested that you use this time to share your exeriences of living with the effects of Mitochondrial Disease and the obstacles and difficulties you have encountered obtaining the care, resources, and assistance you need as citizens with special needs in the State of Tennessee.
We will have tables set up with story boards, pamphlets, and information about Mitochondrial Disease on the Hill that day. WE NEED YOUR HELP !! If you have not already done so, please send a brief story and picture of you or your affected family member affected by Mitochondrial Disease to midtenmito@yahoo.com so we can finish the story boards and handouts. If you cannot e-mail them, please let us know and we will give you an address to mail them. You may call Courtney at 615-969-1353.
We also will be specifically requesting a Mitochondrial Disease Awareness Week for the 3rd full week of Setember.
We hope that all of you can attend this important event. This is a wonderful opportunity to raise awareness about Mitochondrial Disease in Tennessee !
With Hope for a Cure,
SONYA MURRAY, COURTNEY FELLERS, KRISTIE GOODWIN, and KATHY CORLEY
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Website Update
We would like everyone to know we are currently in the process of updating information. Thank you for your patience. Feel free to browse through and we thank you for your interest and support.
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HAPPY 4th BIRTHDAY JAKE !! (3-6-2004)
Yes, Yes, I made it to 4! Can you believe it! Watch out because I have so much more mischief ready to let loose! I'm ready, the question is are you? Here I come....
....The Jake Man; Bubba or Bubba Loo; Jake PooPoo; Jack Jack. Yes, my family has many names for me! I love them all 
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Eastern Tennessee Mito Group of UMDF
Please Join the Eastern Tennessee Mito Group of UMDF
for an evening with Dr. Bruce Cohen
Bruce Cohen, MD is a mitochondrial disease specialist from the Cleveland Clinic Foundation and a member of the UMDF Scientific and Medical Advisory Board.
Tuesday, January 29th, 2008
7:00 – 9:00 pm
T.C Thompson Children’s Hospital
Probasco Auditorium
Erlanger Medical Mall
979 East Third Street
Chattanooga, TN 37403
RSVP or Questions: Contact Kristie Goodwin at 423-280-4066 or mitomom@charter.net
We hope that you will join us for this wonderful opportunity to learn more about mitochondrial disorders!
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Make-a-Wish to send Jake and Family on Disney World Vacation
By: Tiffany Soyster
Source: The Herald-News
12-23-2007
LINK
Thanks to the Make a Wish Foundation, Jacob and his family will enjoy an all-expense paid trip to Disney World.
Jacob, the 3-year-old son of Kristie Goodwin and Jeramie Mantooth, was diagnosed with Mitochondrial Encephalomyopathy, Complex I in 2005.
The disorder affects the mitochondria of the cells, limiting even the simplest life functions such as breathing and eating.
Kristie shared this example of how the disorder affects the body:
“Mitochondria provide the energy for the body to perform all functions. They provide ‘energy for life’ but Jacob’s mitochondria do not function properly.
“Imagine a city with half its power plants shut down. The city would not be able to operate efficiently; at best there would be a brown out with large sections of the city working below optimum levels.
“That’s what this disorder does to the body, one-half of its energy producing facilities shut down. The brain is impaired, vision is dimmed, muscles twitch spastically or are too weak to allow the body to walk or write, the heart is weakened, and food is difficult, if not impossible, to digest.”
Despite Jacob’s condition and the inability to talk due to a trach, his mother said he is very capable of communicating.
“The majority of his communication is through facial expressions....He often plays opossum at therapy and with us if he decides he’s done or wants you to stop that particular activity; because as soon as you quit his eyes pop open and he is raring to go,” Kristie said.
The Make a Wish Foundation, the nation’s largest wish-granting organization, grants wishes to children ages 2 1/2 to 18-years-old that are suffering from a life-threatening disorder.
“Our mission is to grant the wishes of children with life-threatening medical conditions to enrich the human experience with hope, strength and joy,” said Tory Hood, program services director for the East Tennessee Make-a-Wish office.
Children are referred either by doctors, family members or themselves. The foundation then determines if the child meets the medical requirements set in place.
Kristie said she and one of Jacob’s nurses were talking one day, the the foundation was mentioned.
“She suggested that I call to see if Jacob was eligible. So I did,” Kristie said. After the child’s health condition is determined, a team of volunteers visits the family to learn more about the child.
Teresa Longwith of Cleveland and Kelly Sullivan visited with Jacob and his family to learn about his personality.
“In a lot of cases, you want to find out what makes them smile,” Longwith said. “He likes Dora and bright colors and things that make noise. He loves sound.”
While visiting with Jacob and his family, Longwith said the family decided that a Disney World wish, which is one of the most popular wishes, would work the best.
Kristie said when she found out Jacob’s wish had been granted, she didn’t know what to do. “I was ecstatic,” she said. “I thanked God for an answered prayer, it seemed surreal. I have always loved to travel and have wanted to take Jacob places, for him to be able to see things and this was our chance. I have always imagined us riding It’s a Small World at Disney World and how much Jake would love it. I just never thought it would be possible.”
On Jan. 3, Jacob and his family will travel to Orlando, Fla. Jacob and his parents will stay in a special housing village near the park. The village has handicapped amusement rides and a pool. In addition, Jacob will get to enjoy a meal with Disney characters.
“These accessible rides will allow for Jacob to experience some independence. He will be able to ride things and see and do things on his own, with less assistance anyway, than he would ever be able to do here. There are shows that he will be able to see, characters he will get to interact with and he will be able to enjoy them without us worrying about who we are disturbing,” Kristie said.
Jacob will be joined by two of his nurses, and both sets of grandparents. In addition, several aunts and uncles are hoping to join the group in Florida.
“Everyone wants to come while we are there because this is truly a once in a lifetime opportunity for us,” Kristie said.
Currently, Kristie is trying to raise awareness about Jacob’s disorder, speaking at such groups as the Rhea County Health Council.
“I am currently an Ambassador for the United Mitochondrial Disease Association for Tennessee. I try to raise awareness as much as possible at any opportunity that I am given. I carry wallet cards to hand out if anyone asks about Jacob.”
In addition, Kristie had a booth set up at the Pumpkinfest.
On Dec. 22, Jacob and his family will enjoy a send off party at The Heartland Grill thrown by Make-a-Wish.
“I would like to thank Chris Goetz [at The Heartland Grill] for allowing us to have the send off,” Kristie said. “Also, I would to thank everyone mostly for their thoughts and prayers for my family. Without them things would be much more difficult.”
For more information on Jacob or mitochondrial encephalomyopathy, complex I , visitwww.caringbridge.org/visit/jacobmantooth andwww.umdf.org. Kristie also welcomes questions regarding Mito or other special needs issues. Her e-mail address is mitomom@charter.net.
Jacob has become somewhat of a local celebrity in his three years. Now, he will visit the place celebrities talk about.
“This trip will give Jacob the chance to get to do the things that other children are able to do,” Kristie said.
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