Abigail West’s Journey with Mitochondrial Disease
My daughter, Abigail Rose West, was born full-term on December 17, 2006 via natural labor and delivery. She was proclaimed healthy, weighing in at 6 pounds 12 ounces, and we went home the same day she was born. Being my second child, I was immediately concerned with her breastfeeding ability, but was reassured that all babies are different and she would catch on quickly. Those first few months were hard; she was not nursing well, was having screaming fits, and projectile vomited. I switched her to a bottle at 3-months-old, though she was still not able to suck properly and tired easily.
By the time Abigail was 3-months-old, we realized that something was “off”. She was not gaining strength in her neck or legs and her eyes were always crossed. Her pediatrician ordered some lab work and a brain CT Scan and then a MRI, since her head was not growing. The MRI showed that Abigail’s brain had stopped growing and she was diagnosed with microcephaly. She was seen by many specialists. Many blood tests were done, yet every test came back with normal results! We had no answer to why her brain stopped growing, why she was “floppy“, or why she had feeding issues.
Finally, when she was 10-months-old, I discovered mitochondrial diseases while researching online (something I did almost every day). My gut told me this was what she had, though she only had a few of the symptoms. Her local specialists did not agree with me and would not do the needed muscle biopsy to test her for a mitochondrial disease. I asked Abigail’s pediatrician for a referral to see Dr. Russell Saneto at Seattle Children’s Hospital. We were then scheduled to see him on April 14, 2008.
Before our appointment with Dr. Saneto, Abigail had another brain MRI, which showed that her cerebellum had shrunk. She had cerebellum atrophy. Her local neurologist said that could indicate either a neurotransmitter disorder or (surprise!) a mitochondrial disease. After a spinal tap ruled out the NTD, we knew we were headed in the right direction. When we visited Dr. Saneto, he ordered more lab work and a muscle biopsy was scheduled for August 8, 2008.
Meanwhile, we were simply living the best we could with Abigail’s condition. She stayed much like an infant with colic all of those months. Our biggest concerns continued to be her lack of muscle strength (in her eyes and entire body) and her feeding difficulties along with projectile vomiting. She had learned to make “cooing” noises, was smiling, giggling, rolling over, and even grabbing toys to bring to her mouth (all these things she learned between 5 to 7-months-old).
She weighed only 15-pounds at 22-months-old, when we got the muscle biopsy results. She was diagnosed with a mitochondrial disease, with deficiencies in complexes 1 & 2. After further extensive genetic testing of Abigail, her father, and I, no specific mutation or DNA diagnoses has been made. At this point, we are left to believe that her case is sporadic or environmentally caused.
Abigail has spent weeks inpatient with failure to thrive, dehydration, and sleeping issues. She is directly affected in her brain, muscles, and GI system with varying symptoms stemming from those issues. She is severely physically and mentally delayed and is 100% non-verbal. She suffers daily with nausea, vomiting, and muscle pain. She takes medications to help with sleep, dystonia (a movement disorder), and stomach issues. She has had a gastric feeding tube since March 2009 and currently uses a jejunal feeding tube since October 2011. January 2012, Abigail was enrolled in the EPI-743 study at Seattle Children’s Hospital and has continued taking the experimental drug since then. Though she has not shown any real improvements on the drug, we believe that it has worked alongside the j-tube in keeping her stable. Abigail has avoided being inpatient at the hospital since starting the drug. She is now 7-years-old and weighs in at over 50-pounds.
We have chosen to take the road less traveled, in that we opted out of therapy early on (after 8 months of therapy). Abigail thrives on being surrounded by her loved ones (she now has 7 siblings) and is happiest in her daddy’s arms. She has taught us to take each day as it comes and to be thankful for every moment with our loved ones. Our goal is to decrease her vomiting and pain, as we pray for that every day!
State of the Foundation – Summer 2014
2014 continues to be very promising for the Foundation for Mitochondrial Medicine (FMM) in terms of focusing on our three goals: raising awareness, fueling connections, and funding the cures.
We are proud of our new and established partnerships with the Michael J. Fox Foundation, The Friedreich’s Ataxia Research Alliance (FARA), Epilepsy Foundation (Georgia Chapter), and Wilkins Parkinson’s Foundation. FMM is excited be co-funding a mitochondrial drug discovery project with the Michael J. Fox Foundation, while continuing to support the Alzheimer’s Drug Discovery Foundation.
This year, we launched a new program, Partners for the Cures, to engage our community and promote awareness for mitochondrial disease. FMM joins retail partners and entertainment venues throughout the country to host special events to benefit FMM. Partners donate a portion of the proceeds generated from these events and introduce FMM to their own patrons, both raising funds and increased awareness.
Please join us across the nation for our regional fundraising events:
- Partners for the Cures at Mint Julep – June 12 – Atlanta, GA
- Hope Flies with the Braves – July 26 – Turner Field in Atlanta, GA
- Hope Flies with Tommy’s – September 7 – Atlanta, GA (details coming soon)
- Hope Flies Stars for Audrey – September 13, Greenwood, IN (details coming soon)
- Hope Flies Catch the Cure – September 19 – The Buckhead Theater in Atlanta, GA
- Firefly Run – date and location to be announced soon
Visit www.hopeflies.org to learn more about our events and programs, as well as stay updated on our current events in your area.
Additionally, new memoir on love, loss and recovery titled Shannon’s Gift is available for purchase on Amazon and BookLogix. Author Nate Bennett, a FMM supporter, has chronicled his grief the sudden loss of his wife due to complications of mitochondrial disease. A portion of proceeds from books sales will benefit the Foundation for Mitochondrial Medicine and research for treatments of mitochondrial disease. Click here to read more about Nate and his new book, Shannon’s Gift.
FMM Observes Chronic Fatigue Syndrome Awareness Day
Chronic Fatigue Syndrome (CFS) is a serious, debilitating medical condition. The name of the illness does not adequately reflect its complexity. In addition to severe fatigue, individuals with CFS experience cognitive problems, pain in the muscles and joints, tender lymph nodes, headaches and many other symptoms.
Today, the Foundation for Mitochondrial Medicine is observing Chronic Fatigue Syndrome Awareness Day, which began in 1992. The date of May 12 was chosen to honor the birthday of Florence Nightingale, the English army nurse who was a pioneer of the Red Cross Movement. Nightingale was practically bedridden with a painful and fatiguing illness resembling fibromyalgia or Chronic Fatigue Syndrome, yet went on to inspiring accomplishments, including the founding of the first School of Nursing.
One of the most difficult aspects of having CFS or fibromyalgia is that most of the symptoms are invisible, which makes it hard for others to understand what living with these debilitating illnesses is really like.
There is currently no known cause or cure for CFS; however, scientists have identified numerous biological abnormalities in CFS patients. One leading theory is that the illness is rooted in the immune system, endocrine system and central nervous system. When any of these systems is activated, the others are affected.
CFS is under diagnosed. Fewer than 10 percent of people with CFS have been diagnosed by a medical professional, and more than 90 percent remain ill with little or no medical treatment. CFS is often misdiagnosed because it can mimic many other disorders, including multiple sclerosis, Lyme disease and lupus.
In the name of all of those with Chronic Fatigue Syndrome and mitochondrial disease, join our effort in funding a cure.
Recogning the Importance Parkinson’s Awareness Month
FMM recognizes the importance of continued Parkinson’s disease research, education, programs and support groups, as this month marks the fifth year both houses of Congress have officially declared April Parkinson’s Awareness Month.
Parkinson’s disease is a progressive, neurodegenerative movement disorder. It worsens over time, and it is caused by the degeneration of nerve cells in the brain. The most prominent symptoms of Parkinson’s disease affect movement, although many other symptoms may also occur, some of which can be even more disabling than the movement symptoms.
Affecting 1 in every 500 people, Parkinson’s disease is a chronic progressive neurological disorder that takes an enormous physical, psychological and emotional toll on patients and their families.
According to the resolution, the Senate:
- Supports the designation of April as Parkinson’s Awareness Month,
- Continues to support research to find better treatments, and eventually, a cure for Parkinson’s disease;
- Recognizes the people living with Parkinson’s who participate in vital clinical trials to advance the knowledge of the disease;
The House of Representative similarly designated April to be Parkinson’s Awareness Month.
Parkinson’s Awareness Month presents an important opportunity to become better informed and to educate others about this neurological disorder. As our society continues to age, the number of individuals with Parkinson’s disease is expected to grow. In fact, the number of people dying from Parkinson’s disease has quadrupled in the past 20 years.
Mitochondrial Dysfunction and Parkinson’s Disease:
Scientists have accrued a large body of evidence confirming that mitochondria play an important role in the development of Parkinson’s disease. The most prominent symptoms of Parkinson’s disease are muscle trembling and weakness, which then progress to muscle immobility. These symptoms are the result of a decline of dopamine in the brain, which occurs as a result of loss of neurons that produce this vital neurotransmitter.
To learn more about how Parkinson’s disease and how it is related to mitochondrial disease, visit hopeflies.org.
Five Famous Faces Affected by Parkinson’s Disease
Parkinson’s disease strikes people in all walks of life, including those in the limelight. Here are five famous faces whose lives have been affected by Parkinson’s.
The boxing champion began showing signs of Parkinson’s disease shortly after retiring from boxing in 1981, and he was diagnosed with the disease in 1984 at the age of 42. Though his doctors are not entirely sure, his Parkinson’s disease may be the result of repeated blows to the head during boxing matches.
Michael J. Fox
Most famous for his role in the Back to the Future movies, Fox was diagnosed with young-onset Parkinson’s disease in 1991 at the age of 30. He went public with his diagnosis in 1998 and committed himself to working for Parkinson’s research. He eventually established the Michael J. Fox Foundation, which raises money for research.
Johnny Cash’s publicist announced the star had Parkinson’s disease in 1997 after he was forced to cancel a concert tour. He died in 2003.
In 2000, the actress best known for her role as Sophia on The Golden Girls announced she had been suffering from Parkinson’s disease for several years. She eventually passed away in 2008 from natural causes.
Pope John Paul II
Pope John Paul II, the second-longest serving pope in history, was dedicated to health and fitness. He even insisted that a swimming pool be built in the Vatican. His predecessor, Pope John Paul I, died of a heart attack only 33 days after becoming pope. However, Pope John Paul II survived two assassination attempts and various health scares.
To learn more about the relationship between Parkinson’s disease and mitochondrial disease, visit mitochondrialdiseases.org/parkinsons.
Danielle Poppens Shares Why She Believes Autism is Environmental
The new autism numbers are staggering: one in 68 individuals 21 and under have autism spectrum disorder. As the parent of a boy with autism, the number that is even scarier is that for boys this number is one in 42! For comparison, when my son Andy was diagnosed in 2002 the overall number was one in 150.
Why is autism reaching an epidemic level? No one can really provide any concrete rationale. However, in my family I believe the cause is environmental and actually occurred when my sister and I were growing up. How can I be so certain? There are a couple of facts that have pointed me in this direction.
First, while I have two children – one of whom has autism, my little sister has seven children – three of whom have autism. She also lost a child at birth, her name is Sara, because her brain did not fully develop; and her youngest son was born with Encephalocele (where the skull does not fully close around the brain). That means there are 6 of 9 children between my sister and I who have issues with their brains and it’s development. For comparison my older sister, who grew up with my father in a different house, has two typically developing, college-educated and college-bound daughters.
The second piece of evidence is based on the women with whom I grew up. I attended high school in Southern California and went to a large school. There were approximately 300 women in my graduating class and I’d estimate that I’m in touch with or have heard of approximately 200 of them over the years. To date, I know of six of us who have autistic kids – that’s one in 50 – a statistically significant difference versus the national average.
I believe there are two potential environmental factors that may have led to this unusually high level of autism among our offspring:
- Our homes were built in the 1950’s and 1960’s on re-claimed farmland – farmland that I’m fairly sure was treated with now illegal pesticides (like DDT).
- We lived near the Seal Beach Naval Weapons Station, where many of the weapons were buried in underground bunkers with the potential to leach toxins into the groundwater or into the nearby ocean waters in which we regularly swam.
How can we reverse this trend for future generations? It needs to be a multi-faceted approach that focuses on maintaining the quality of our air, water, food, medicines, etc. so we are not putting potentially damaging chemicals into our bodies. Also we need to understand how environmental factors impact the brain, and do genetic testing and counseling so potential parents can determine if they are prepared for children who may be born with autism – or any of the other disorders/diseases caused by environmental factors that are changing or have changed our genetic make-up.
Helping us helps so many others. A cure for mitochondrial disease could impact cures for so many related diseases. Click below to donate today!
How Do You Increase Your Energy Levels?
Whew it’s been a long week! I received many comments, emails, and Facebook messages since my first blog post, and many of them had to do with mito test results. I thank you for asking those questions. It became very evident to me that I am in no way able to actually answer them professionally.
As many of you have experienced over the years, finding a doctor who knows what mitochondrial disease actually is can be difficult. Mito has so many “faces” and a wide spectrum of complications that make it hard for those not specialized in the diseases to keep up. That is why awareness is such an important part FMM, because without it how will we ever grow large enough to make mito mainstream? This week I dive into what I’m doing to help increase my energy levels.
My second week of this journey has taken me out of my comfort zone with food and exercise. I am trying to find the happy medium between getting back in shape and keeping my body safe. I have gone back to square one physically. This has allowed me to schedule out my first few weeks of exercise meticulously with an emphasis of slowly getting back in the swing of things. I then assessed my current diet and realized it was not giving me the maximum amount of energy that I could process on a daily basis. So, I have been looking for more vibrant colored fruits and vegetables and trying to have at least one meal a day with dark leafy greens. This seems to have given me rocket fuel. I feel so much better every day that I eat like this, which is a wonderful reminder to stay away from fried junk. If you have the option to choose what goes in your body, then I highly suggest talking with your doctor about seeing a nutritionist that your doctor trusts for your well-being.
Some weight is starting to fall off and it is a welcoming sight for me. Healthwise, my body won’t be carrying around any additional weight and I should have much more energy. I often wonder how much added strain this weight is causing my body that already has low energy levels. In the long run, I know I will be much better off and that is what drives me. The summer heat will certainly be a test of its own as I have never responded well to heat and am very prone to over-heating.
How are some of you trying to increase your energy levels? The mito cocktail (i.e. Coq10/L-carnitine, etc.) can only do so much, but along with an energy and nutrient-rich diet and moderate exercise I have noticed some positive changes in my energy levels.
Reach out to be by leaving a comment below, or follow me on Twitter at @mitoguygt.
Penny War Fundraiser for Rare Diseases
Join the Belnap Family in the Penny War for Rare Diseases!
Blue Ridge School in Pinetop-Lakeside, Ariz. will be participating in a Penny War fundraiser the week of April 28th – May 2nd. The purpose of the fundraiser is to raise money for children with rare diseases. The fundraising will include a penny war, dodge-ball events, hat and iPod day, and other activities.
Each classroom will be given a container they decorate and put in the library. The goal is to have the most points, or pennies, in your container at the end of the week. At the end of each day, the money will be counted so each class knows where they stand. The classroom with the most points at the end of the week will have a pizza party along other prizes.
The Penny War is a fundraiser through the Belnap Foundation, a local foundation that is dedicated to supporting research and raising awareness of mitochondrial and other rare diseases.
Proceeds from this fundraiser will be donated to TGen’s Center for Rare Childhood Disorders in Phoenix, Ariz. and the Foundation for Mitochondrial Medicine located in Atlanta, Ga. These organizations are dedicated to diagnosing and finding treatments for patients with rare diseases.
You can participate online by making a donation to The Belnap Family Fund. When making an online donation, write “Penny Wars” in the comment box.
Visit the Foundation for Mitochondrial Medicine to learn more about mitochondrial diseases and how you can help save lives.
FMM Celebrates World Autism Awareness Day
The Foundation for Mitochondrial Medicine (FMM) is recognizing is recognizing World Autism Awareness Day, a global effort to raise awareness and world attention on the issues affecting those with an Autism Spectrum Disorder. Many friends, families, and autism advocates are joining us this month to celebrate, bring awareness, support and hope to families and people with autism.
The Centers for Disease Control and Prevention (CDC) recently announced that the number of children identified with Autism Spectrum Disorder (ASD) has increased to 1 in 68. That is roughly a 30 percent increase from the one-in-88 statistic released two years ago.
To highlight the growing need for awareness about autism, the month of April is recognized as a special opportunity to educate the public about this complex neurological disorder.
By participating in this day, FMM will give a voice to the millions of individuals worldwide who are undiagnosed, misunderstood and looking for help. World Autism Awareness Day shines a bright light on autism as a growing global health crisis. Please join us in our effort to inspire compassion, empowerment and hope. How will you celebrate World World Autism Awareness Day?
To learn more about the connection between autism and mitochondrial disease, visit www.hopeflies.org/related-diseases/autism.
Savi Provisions hosts Partners for the Cures Wine Tasting to Benefit FMM
Big thanks to our newest Partners for the Cures partner, Savi Provisions for co-hosting a special wine tasting to benefit FMM last Thursday evening. An enthusiastic crowd of more than 30 guests sampled specially selected wines and enjoyed delicious hors d’oeuvres. Savi’s Anthony Alvarez educated guests with tasting notes, and Savi generously donated a portion of the proceeds from the evening’s ticket sales as well as wine purchases to FMM.
If your organization is looking for a way to “give back” while at the same time boosting visibility and sales for your business, please consider the Foundation for Mitochondrial Medicine’s Partners for the Cures: Shop, Dine and Play for Mitochondrial Disease program. In addition to supporting our vibrant and growing foundation’s mission to fund the cures and raise awareness for mitochondrial disease, your organization will greatly benefit from this partnership. FMM wants to recognize and promote our Partners for the Cures by offering the following benefits and more. Learn more about becoming a partner.