Mito Kids

We would like to introduce you to some of the faces of mitochondrial disease. They all wear the same smile and share the same dreams of leading a normal child's life. Their families all share the same hope that one day a cure for their disease will be found and that one day mitochondrial disease won't have a face at all!

Alexandra’s Story

Our third daughter Alexandra was born three weeks early in November of 2007. At first, it appeared that she was growing normally, but by her six month checkup, her weight had dropped to the 3rd percentile. While we were keeping an eye on this, Alexandra began to miss normal benchmarks for crawling and talking. Although we understood that each child develops at her own pace, we also had a nagging feeling something was not right with her. At a year old, we began physical and speech therapy and Alexandra began to crawl and say words. When she was 18 months old, we took Alexandra to see a neurodevelopment doctor at Children’s, who thought it might be mild cerebral palsy holding her back, but suggested an MRI just to be sure. The diagnosis was a rare degenerative brain disease that progresses rapidly. The advice was to go home and enjoy Alexandra. This was the most devastating day of our lives! We believed we would soon lose our baby. During the rest of that summer, we watched Alexandra go backwards in her development. She lost words she had learned, her eyes began to wander and she didn’t even cry anymore. She was like a little puddle, a lump on our laps.

At this point we were referred to Dr. Saneto, who diagnosed Alexandra with mitochondrial disease. The biopsy showed that her mitochondria are functioning at only 22% of normal. Dr. Saneto started her on a vitamin cocktail and this treatment has changed her life. Her motor skills have improved, she eats better, and her sign language has helped her communicate. She likes it best when her family is together and loves playing with her sisters. Alexandra works hard at everything she does, and is always happy, even when she is sick. We are truly blessed to have Alex in our lives as she is teaching us about life. Alex has taught our family a love we didn’t know existed. We are truly blessed. We are so very grateful for Dr. Saneto, Pam, Dr. Cowen and the NW Mitochondrial Guild. Thank you all for what you have done for Alexandra and our family.

Steve and Teresa Serex

Ashley’s Story

When Ashley was 4 months old I suspected something was wrong. The local doctors told me that she is just small and she would eventually catch up. But she continued to be behind in all of her milestones. At 6 months old she still couldn't hold her head up and behaved like a newborn. I contacted Shriners Hospital which referred me to Seattle Children's Hospital. This was the beginning of our journey toward a possible mitochondrial diagnosis. At the time Seattle Children's Hospital didn't have Dr. Saneto working for them and I had to find other doctors that could help Ashley. Our journey took us to Portland, Oregon. We saw doctors there until I found out that Dr. Saneto had taken a position at Seattle Children's Hospital. I became aware of his research and work with kids with mitochondrial disorders and knew this was a great opportunity for my daughter to be under the care of one of the best in the field. We have been blessed to have him in our lives! Ashley doesn’t as of yet have a specific diagnosis but tests suggest Complex 5.

Today Ashley is a happy 11 year old. She enjoys many things in her life like horseback riding, playing with her dogs, tormenting her sister, and going to school. Ashley requires physical and occupational therapies and speech support in her school setting to help her to continue to progress in school. She attends a Life Skills class as well as her regular classroom work. Twice a month she also receives private physical therapy. Without all this intervention in her life I know she wouldn't have come as far as she has today.

It's not easy raising a child with special needs. The kids and their parents that are affected by mitochondrial diseases need everyone’s support. Please help support this wonderful cause and Dr.Saneto and others who are working to find answers for our kids!

Mark, and Christi Dieringer

Bryson’s Story

Bryson was a typical, healthy, three year old in February 2002 when he came down with a high fever and Roseola. At the same time, many other symptoms developed including excessive weight gain, balance issues and sleeplessness. Numerous blood test and MRI results showed something “metabolic” but no physician could give us a definitive diagnosis. We traveled from Idaho to Children’s Hospital in April 2002 with hopes of a diagnosis within a week or so. The preliminary diagnosis by Dr. Saneto was a degenerative disease called Leigh’s Syndrome.

Bryson’s condition deteriorated quickly. Just three days later, he was put on life support and all we could do was pray. The doctors were unable to do the biopsies necessary to diagnose Leigh’s Syndrome, but Dr. Saneto recommended supplements that would eventually become part of his daily regimen. Finally, after twelve long days, Bryson was removed from the ECMO and respirator supports. We now had the challenge of teaching him to talk, eat and walk all over again. Children’s Hospital had been our home for three months!

Although leery of leaving the support of the hospital and the expertise of the neurologist, we were finally able to take Bryson home.

Bryson continues the routines of physical and occupational therapy and as a result, has recently taken to the habit of walking on his own without leaning on a companion as a crutch. A couple of years ago he was diagnosed with Complex III deficiency and a rare pathological Complex V mutation only documented in one other patient in the world. Little is known about this disease and its long term effect on the body, so Bryson’s prognosis is unclear. Still, he has come a long way from the three year old boy on life support at Children’s Hospital just nine years ago.

Bryson has this way of exuding “coolness” that is typical of the average 12 year old. His greatest annoyance (besides his decidedly “uncool” parents) is his 18 year old brother who persists in “chubbetizing” (pinching) his round cheeks and telling him he’s so cute. But then, who wouldn’t find that annoying?

Our family is involved in the Mitochondrial Research Guild to raise awareness and to work to find a cure for this disease. Thanks to Children’s Hospital and its many dedicated doctors, staff and generous donors, Bryson is with us and able to dream his wildest dreams of being a millionaire!

Sue and Brian Potter

Calvin’s Story

Our son Calvin was born seven weeks early on November 19, 2007, the third “preemie” to join our family. We expected some difficulties associated with his pre-term delivery, but Calvin’s journey was more complicated than we expected. His time in the hospital included a collapsed lung, a chest tube and some time on a ventilator. Bringing Calvin home also meant coping with more serious health problems. Over the next months, he had difficulty nursing and vomited after nearly every meal, requiring medication for reflux. He had a hole in his heart, which required constant monitoring by a cardiologist. His eyes began to cross, and he was diagnosed with Infantile Esotropia, which required first glasses, and then eye surgery to loosen the muscles in his eyes. His surgical recovery, which should have taken thirty minutes, took six hours! Calvin began missing some of his developmental milestones, requiring occupational, feeding and vision therapy.

In January 2009, just after his first birthday, Calvin’s health started to fail his little body. He was often too exhausted to eat or drink, particularly when ill, and while fighting a virus in the hospital in May of 2009, became catatonic for the first time. We held our son’s listless body in our arms, while the doctor told us they couldn’t explain what was happening to our little boy.

That next winter brought a diagnosis of severe sleep apnea for Calvin, and seasonal illness that resulted in tonsil surgery. Cal’s body took weeks this time to recover from the effects of the anesthesia and surgery. He lost all of the talking and walking milestones he had gained. There was still no answer as to what was really wrong with Cal.

Suspecting Mitochondrial Disease, our pediatrician finally referred us to Dr. Saneto. Dr. Saneto and Pam Sligh listened carefully to Cal’s story. They were the first team to really “get it”. We walked out of the office with a clinical diagnosis of mitochondrial disease, an appointment for a muscle biopsy, and information about the Mito Research Guild. Under Dr. Morgan’s care, Cal’s experience with anesthesia during the biopsy was normal, with an appropriate recovery time. For the first time I began to feel that in the hands of these doctors we might be OK.

Calvin was diagnosed with Mito in July 2010 and had a G feeding tube inserted which has given him the nutrition his body desperately needs as well as the ability to push his “Vitamin Cocktail” and keep him hydrated when sick. He has grown and developed and continues to regain the milestones he lost his first two years of life.

Calvin recently began having seizures and has been admitted for various tests intended to locate the source of seizures in his brain. Cal will be four in November. He loves playing with his big brother and sister and has a magnetic personality that touches everyone he meets. Because of Children’s and the Mito Guild, we are now surrounded by people who support us and give us comfort. Dr. Saneto, Pam Sligh and Dr. Morgan gave us hope, the answers we need, and a plan for Cal. We now have a reason to believe Cal’s story will go on.

Tricia & Brian Bertsch

Cassandra’s Story

September 1999-May 2003

I write these words in loving memory of my daughter Cassandra, who was born with mitochondrial disease. As a result of this disease, Cassandra suffered from epilepsy, hearing and vision impairments, developmental delay and other medical problems. Three-year old Cassandra was wheelchair bound and unable to sit up or rollover without assistance. But she had a smile that lit up a room and a laugh that we know was straight from heaven.

Cassandra Elizabeth Simmons passed away on May 19, 2003 four months before her fourth birthday.

Please help honor the memory of our little angel and other “mito” children like her by supporting the Mitochondrial Research Guild of Children’s Hospital. We need to find a cure for this deadly disease to help other children lead a normal and prosperous lives.

Marquelle Moser

Cathal’s Story

On January 20, 1998, Cathal Doyle made his dramatic entrance in Dublin, Ireland and into our lives. He was born with an H-type fustula (the trachea and esophagus are fused) and had surgery to repair this defect when he was two days old. He was in the hospital in intensive care for several weeks while his trachea healed and developed fully and we were finally able to bring him home.

Cathal’s “mito story” really begins at 18 months old, when he was referred to a GI specialist because of an unusually large liver. After a year and many tests, there was no clear cause for his abnormal liver function and slow physical development. A geneticist in Dublin finally sent a liver biopsy to a lab in Paris. Within weeks, Cathal was diagnosed with isolated complex III deficiency. We finally had an answer to Cathal’s problems and his mito supplement protocol began.

Our family moved to Boston, MA and then to Oregon in 2004. Tests in both places have revealed the extent of Cathal’s physical and developmental challenges. A tonsillectomy relieved his apnea and has improved his resistance to illness. Cathal lives a largely normal life, but we try very hard to avoid even minor illness that could be life-threatening for Cathal.

Cathal is now in the 8th grade and while he receives support in math, he otherwise keeps up with his classmates in most other subjects. His physical activity must be limited to light sport, and swimming and mountain biking helps maintain his stamina. He walks his dog Wickie every day.

Living in Bend, Oregon, Cathal’s doctor is Dr. Cary Harding in Portland, but we have met Dr. Saneto, and other Mito Guild friends on several occasions. We are a long way from Ireland, where we call home. But we are a part of a unique family of individuals affected by mitochondrial disease. We are acutely aware that we have to continue the research focus to find a cure. We are grateful for the work of the Mitochondrial Research Guild and Children’s Hospital and hope we can play our part too

David and Patricia Doyle

Chris's Story

Our son Chris is one half of our set of twins. Chris is 12 years old. By the time Chris began to show symptoms of his mitochondrial disease, his sister Max had already been diagnosed. Chris is physically very talented. He began playing tennis at a very young age and many thought he had a great tennis future ahead of him. But by age six, having enough energy to do the things he enjoyed most became a challenge. Chris was exhausted after playing just one set of tennis. By age eight Chris could no longer play a match.

Chris learned to surf at an early age. He continues to enjoy a bit of surfing during the summer. During the Winter 2010/2011 he joined the Squaw Valley Snowboard Team. At the end of the season he announced he needed to take a season off and is looking forward to start a new sport: archery. “It’s less physical”, he says.

His greatest passion these days is fishing. Whether going out on a boat and fishing in the ocean, or lake fishing, fishing is one of his favorite activities. Researching fishing equipment is one of his hobbies.

Chris struggles with asthma and fatigue. The mito cocktail, nebulizers and inhalers are a part of his daily life and enable him to do the things he loves. Because of fatigue, Chris cannot make it through a regular school day. He and his sister enjoy custom schooling. This enables them to learn at their own pace. Covering curriculum in smaller segments, spread over a day, makes for more energy efficient learning.

During a summer vacation we overheard the following conversation between Chris and his friends: "Did you know that some mito kids don't make it to be 20 years old? It is really sad, but don't worry, I'll make it. I'm not as sick as some mito kids." That's the spirit Chris! Children like Chris deserve to be able to follow their dreams. Mitochondrial researchers are working hard to find new treatments for our kids. Thank you to Seattle Children's and Dr. Saneto for working to see that kids like Chris can live out their dreams.

Rosy and Jim Austin

Drew's Story

August 22, 2008 - September 9, 2011

We had our firstborn son just before we turned forty years old. As older parents, we had all the “right” tests done to make sure our baby was healthy. He was beautiful! But by five months of age, Drew had been in and out of hospitals and had batteries of tests. At fifteen months of age, he was finally diagnosed with Leigh’s Syndrome, a rare mitochondrial disease. As doctors apologized to us for a positive diagnosis of a horrible disease, we refused to by beaten by the news and continued to hope.

Drew had fire-red hair, light blue eyes and delicate pale skin. He had a laugh like no other I have heard. The sound he made attracted everyone, inviting them into his world. Drew couldn’t talk, sit on his own, crawl, walk, or hold his head up very well. He was tube fed all nutrition. We worked very hard to help him achieve each movement, and then one day, it would be gone. I grieved the loss of each milestone. For one month, when he was two years old, he said “momma.” It was the one word he ever had. I miss that so much I ache.

Over his short life, we took Drew with us rock climbing, swimming in lakes and rivers and hiking. He saw wild elk, eagles and coyote. He held chicks and rabbits, went horseback riding, sledding and had a new puppy named Sophie. We tried to make sure he lived a full life. This was possible because of the support of a solid group of family and friends that love us and helped us when we couldn’t do everything ourselves. I know our family and friends will help make the world whole again.

For the past few months Drew battled viruses that weakened his body. He was sick again, and this time experiencing respiratory distress, but there was no reason to expect that he wouldn’t fight through it. But on September 9, 2011, Drew Akerstrom Mussey lost his battle with mitochondrial disease and passed away peacefully in his sleep.

Through the wooded forest we run,
Hiking, climbing to meet new heights.
Rushing waters carrying the future far away,
But you my son, Drew me near.

Carrie and Dave Mussey

Grace’s Story

Our first child was born with a type of cerebral palsy, so I thought I understood was it meant to have a child with special needs. But six years later when Grace was born, “special needs” took on a whole new meaning. She had low birth weight and needed a G-tube for nutrition, but there was no immediate explanation for what was wrong with Grace. After scores of tests and several doctors, she was finally accurately diagnosed with mitochondrial disease at nearly five years of age. We are so grateful to Dr. Saneto for his belief that he knew what was affecting Grace’s development and for sticking with her.

Grace is now six years old and entering kindergarten this year! But while she has made some huge strides this year in her development, Grace faces challenges far beyond those of most kindergartners. Grace is non-verbal and lacks a functional communication system. She is often very frustrated and cries, signing Please! Please! Please!, but we don’t always know what is bothering her.

Nutrition is still a problem for Grace. The goal of feeding therapy is to help Grace learn to take food by mouth. But after lots of prep time, the end result is often food all over Grace and I and an undetermined amount actually swallowed by Grace, so she still requires a feeding tube.

But Grace can now proudly use the potty, walks forward in her walker and has learned to LOVE swimming. A year ago, I could only hug Grace tightly and walk slowly into the water with her. Now she will put her own face in the water, float on her back and jump off the side of the pool! Grace tolerates her school classroom now. A year ago, she had to be taken on quiet walks outside of the classroom more often than she was in the classroom. Now, she can be with her peers for three hours at a time! Huge accomplishments for a little girl who generally takes very slow developmental steps. These steps forward are the things that give us hope and remind us we are doing the best we can for Grace.

Sometimes days are very long and frustrating for both Grace and I, with very little developmental progress. But a checkup with Dr. Saneto, and seeing his pleasure at her progress reminds me what a beautiful little person I have in my life. Grace has her own ways of expressing her love, and beneath the daily struggles and grind, there is a girl who loves us very much.

No child should have this disease, but after all we have been though, it has been exciting to meet other kids like Grace and families dealing with the same issues. We are grateful to Dr. Saneto and others who work to help our daughter be all she can be. Thanks to all of you who are supporting our children and are working to find a cure for this disease.

Krista & Andy Perleberg

Grace’s Story

Imagine coming into the world with a diagnosis of “slight, general and non-specific problems.” Imagine not knowing what was wrong until you are nearly three years old. Imagine knowing you are different in preschool, but not understanding why. Imagine realizing that you cannot do what others can. That is our daughter Grace.

After years of fertility treatments and not having a biological child of our own, my wife Dori and I decided to adopt. One month before our baby was due, we received an alarming call that the baby had some serious problems. The doctor told us that there was a high chance the baby may not survive. During delivery, our baby girl nearly did die.

Grace was in intensive care for over two weeks. Something was wrong with Grace, but her diagnosis remained unclear. In the next three years, Grace had many surgeries, challenges with breathing and eating and ongoing physical therapy for help with walking and speaking. Her condition remained a mystery until we met Dr. Saneto at Children’s Hospital. Dr. Saneto was able to correctly diagnose Grace with a mitochondrial disorder and immediately began treatment.

Grace tries her hardest at everything and is making great progress with her walking and speech. She has had more tests, procedures and surgeries than most people will have in their lifetime, but always has a positive attitude. She never gives up, and she always smiles.

Grace is awesome.

Shawn & Dori Requa

Henry’s Story

Henry Knox Meyer was born four weeks early in March 2004. As first time parents, we thought Henry had fairly normal development. But as he approached his first birthday, we began to have persistent questions. Henry wasn’t walking, and with very little upper body strength, he wasn’t pulling up to standing. These issues, coupled with some gastrointestinal problems that intensified with the addition of solid food, prompted a Seattle Children’s nurse practitioner to encourage us to “dig a little deeper.” The results of a CT scan of his brain only brought more questions because it revealed unexplained abnormalities that would continue to present challenges to him as he developed. The next year brought exams, tests and finally a diagnosis of a mitochondrial gene defect. It was an answer to what was “wrong,” but we were no closer to “fixing” his many health challenges.

Ultimately, we were referred to Dr. Saneto. Having world-class care available to him, provided by doctors who are at the leading edge of the science in this area, has made a difference for Henry and gives our family great peace of mind.

Thanks in part to the care he receives from “his” team at Children’s, Henry continues to develop. He finished 1st grade in a mainstream classroom and met most of the external benchmarks for his grade level. We continue to delight in all of the ways that he is growing and changing: Henry can read, Henry can run and Henry even has learned to ride a two-wheeled bike! And, most importantly, this once silent boy makes us laugh daily with all of the funny things he says. We are so thankful to everyone at the guild for their ongoing support and to the team at Children’s for taking care of our boy.

Sam and Jennifer Meyer

Hunter’s Story

December 29, 2007 – November 26, 2008

The day Hunter was born; he immediately became the love of our lives. We thought he was a normal baby, just developing a little slower than most. In June, 2008 we learned that something major was wrong with Hunter. We were in two different hospitals in one week before we were finally sent to Seattle Children’s as Hunter’s liver began to fail.

Over a three month period, Hunter endured three liver biopsies, a skin punch graft and a muscle biopsy. In October of 2008 Hunter began to go downhill. He wouldn’t eat or drink, so we took him to our local hospital. He finally did eat and we were sent home. The next day he was fussy again, and we drove him to another hospital an hour away. We pressed for them to call Children’s who ordered more blood tests. When Children’s received the results of the tests, Hunter was flown by Medstar to Children’s, where we learned the name of Hunter’s horrible disease – Mitochondrial DNA Depletion Syndrome. Hunter’s liver was failing at a rapid rate, and his only hope was a liver transplant. He would only be a candidate if the disease had not already affected his brain. Unfortunately, it had. The neurologists said it was as if Hunter’s brain had never developed, when only a week before, he had finally said “Mama.”

The disease ravaged Hunter’s body at a fast pace, and on November 26, 2008, we lost our handsome man.

We are eternally thankful for Children’s and the amazing care Hunter received. The doctors and staff became our family, cared for our boy and mourned right along with us when we lost our son. We need to find a cure for this disease so that other families never have to know the pain of losing a child. Please support Seattle Children’s and the Mitochondrial Research Guild and “Give Kids the Energy to Dream!”

This year, Hunter’s pediatrician, Rebecca Yeasted-Gill, MD published her first novel, The Eyes and the Smiles, based on the true story of Hunter’s life. The book can be ordered through the website, www.theeyesandthesmiles.com. A portion of the sale of every book benefits our Mitochondrial Guild.

Stephanie and Nathan Weldon

Jaelynn’s Story

My daughter Jaelynn was born May 3, 2006 via emergency c-section following a difficult pregnancy. From the first day of her life she had difficulties with poor sucking reflexes and severe digestive problems that kept her from thriving. The doctors could only say that something wasn’t quite right. In October of 2006, Jaelynn had her first crisis. My beautiful daughter turned blue and nearly died. She was admitted to the hospital and had major abdominal surgery and was placed on a feeding tube and life support. Still, not one doctor could tell me what was wrong with her, only that it was a “global problem.”

Jaelynn was finally transferred to Children’s Hospital in Seattle. Her life definitely changed the moment she was introduced to Dr. Russ Saneto! She had a muscle biopsy that confirmed that she has mitochondrial disease complex 1 with some complex 3 involvement. Jaelynn’s disease has affected her brain (seizures), heart, muscle, liver and GI systems.

Dr. Saneto prescribed a “mito cocktail” of supplements that have allowed my daughter to blossom before my eyes. Within a short nine months of meeting Dr. Saneto and started on his recommendations for her medications and supplements Jaelynn grew from the 3rd percentile to the 80-90th percentile. We went from hearing she would be lucky to see her first birthday to watching her start Kindergarten this fall! Jaelynn is now 5 years old and has been under the care of Dr Saneto for over four years. She continues to have good and bad days, but through it all, she has taught my family the importance of living life one day at a time. Our family has never lost faith and Jaelynn’s spirit has continued to inspire strength in everyone whose life she touches.

Like all parents, I have huge dreams for my only biological child. We have been blessed by the wonderful physicians who have cared for Jaelynn. We are especially thankful for Dr. Saneto and the change he has made in her quality of life. My hope is that my daughter will continue to have the energy to live out her dreams!

Deb Kilgore

Jane’s Story

April 24, 2003 – April 11, 2011

Jane Windish was born full-term and by all appearances adorable and quite healthy. She had some gross motor delays early on and low muscle tone. This led to some early investigations into why she wasn’t as coordinated as her older brother. No cause was found. Meeting most developmental milestones, she was up and running by two and talking up a storm.

Just prior to her 4th birthday she had her first of many seizures. We would spend the next several years trying different medications and diets to control her seizures. Jane would have long periods of stability and her development would be very good, but at other times, seizure control would fall apart and she would be hospitalized, regroup, gain control and go home for at times a lengthy recovery period. Jane also had fatigue, dizziness, weakness and many other symptoms that we now understand affect children with this disease. But for most of Jane's life we believed these things were caused by seizures and the many side effects of her medications.

In the spring of 2010 her seizures took a strong turn for the worse until her body had a complete breakdown on December 21, 2010. In January 2011, she had DNA testing that confirmed the underlying cause for her seizures. Jane had a mitochondrial disease. Her little body never recovered. She had seizures and myclonic movements non-stop until she finally rested on April 11, 2011.

Jane was Jane, she didn’t miss a thing, she was fun and funny, and she made the best of everything. She played with friends, attended our neighborhood school, ate everything, watched movies, played on a soccer team, and loved her family and her dog Blue. She vacationed in Yellowstone, Bermuda, the Outer Banks, North Carolina, Disneyland, and Washington D.C.

Jane lived a very full life that was way too short. We miss her all day…every day. She was not diagnosed with mitochondrial disease until four months prior to her death. If we had an earlier diagnosis could we have helped her more? Would we have done something differently? We wonder every day. We are committed to raising awareness, and funding research to provide better treatments and support for children with mitochondrial disease.

John and Kathy Windish

Juliana’s Story

Juliana is a funny, social, witty 9 year old who happens to have mitochondrial disease. She takes a vitamin cocktail each day and has frequent snacks to maintain her energy level. When she’s ill we take her to the hospital for a glucose IV. As parents, we try to balance out Juliana’s active nature with her body’s need for rest (which she doesn’t always like!).

Although we consider ourselves lucky – Juliana can walk, talk, make friends, and participate fully in school – we also worry. We worry about what the future holds as there are no certainties with mitochondrial disease. We searched for years for a diagnosis to explain Juliana’s periodic decompensation, liver dysfunction, and gastrointestinal issues when she was a baby. But when we learned it was mitochondrial disease our relief at a diagnosis was quickly replaced by fear. Very little can be predicted about the progression of mitochondrial disorders, little can be done except treat the symptoms, and a child’s status can change at any time.

We are members of the Mitochondrial Research Guild to help make progress in treatment and research for all children with mitochondrial disease. We hope that with the help of our very generous donors we may help eliminate the uncertainties faced by so many families, and children can get the treatment they need to live full, productive lives.

Diane and David Rios

Justin’s Story

November 6, 1997-October 4, 2009

Justin was born a healthy boy who met normal milestones for his first year of life. Around two years of age, Justin went through a period of weeks when he would be very ill one day and fine the next. The doctor thought he had the flu, until one morning he was lethargic, vomiting and I had trouble arousing him. I took him to the ER, where they found his blood sugar to be extremely low. After many tests and hospitalizations, he was diagnosed with Ketotic Hypoglycemia, a condition he would likely outgrow.

Justin began to have trouble walking, resulting in falls and fatigue. More testing found him to be “globally developmentally delayed” resulting in IEPs and special education.

In October 2003 Justin began to have seizures. Justin’s neurologist referred us to a geneticist and to Dr. Saneto at Children’s Hospital. In April 2005 a muscle biopsy revealed Justin has a COX Deficiency. Testing in the POLG gene found additional mutations in March 2008. Thanks to this testing I felt like we finally had the causes for his medical issues.

This mitochondrial disorder effected Justin’s brain, muscles, GI tract and kidneys. He also had vision and sensorineural problems and could not walk. In July 2007 Justin had a g-j tube placed to improve his hydration and nutrition and to facilitate medication. Justin had many setbacks in his last year and fought for his life each day.

Late summer 2009 found Justin back in the hospital with a number of problems. By the end of the September, his liver had begun to fail. On October 4th, his body could no longer withstand the damage done by mitochondrial disease. Surrounded by everyone who loved him, Justin peacefully passed away.

Justin is my hero. Throughout his short life, I was amazed by his bravery. He never complained about all he endured, and when he laughed he brought joy to all who knew him. I will be forever grateful to the doctors, nurses and staff at Children’s and those in the Guild who supported and loved us through that difficult time.

Karen Brubaker

Kara’s Story

At the age of 4 Kara was diagnosed with a Mitochondrial/Metabolic Disorder by Dr. Saneto. Her response to the treatment regime for Mito offered a significant improvement in her overall energy level. In addition her diet was changed to a high carbohydrate, low protein and low fat diet. The changes for the better were astounding.

Over the years Mitochondrial Disease has presented us with new medical challenges. Kara suffers from stomach motility issues which required the placement of a naso-jejunum tube for her nutrition. Her low blood pressure makes it difficult to get through each day without dizziness often requiring rest. She has developed post viral fatigue syndrome saps even more energy from her system. Kara was also diagnosed with reflex neurovascular dystrophy, a painful neurological condition that leaves her barely able to walk. Each day can be a challenge for Kara.

Kara may have Mito but Mito doesn’t define her life! Kara, now 14, is an Honor Society Member, owner of her own business specializing in pet/house sitting, and is looking forward to her high school freshman year including Navy Jr. ROTC. She loves to snowboard, kayak, stand up paddle board, design clothing, sew and hang out with friends. Kara is focused on the future and would like to attend a college for fashion design. Kara has an amazing spirit and is upbeat despite the daily challenges she is faces with Mitochondrial Disease.

This summer Kara had the opportunity to once again attend the Mito week of Camp Korey. It was by far the best week ever for Kara. She was able to develop close friendships with other girls her age who deal with many of the same issues. She talks to or texts her new friends Abby and Maddi (who live in Texas) everyday! For a week Mito is the “norm”; it is a place to be a teenager with Mito where everyone understands. Kara would also like to eventually be considered for a Leader in Training position once she reaches the right age. She feels that it is important to give back to the Mito community and help other children realize that there are others that understand life with Mito.

Without the help of Dr. Saneto and Pam Sligh and the Mitochondrial Research Guild Kara would not have the quality of life that she does now. It is our hope that through generous donations such as yours that the outstanding care our Mito kids receive will continue.

Marilyn Denson

Kate’s Story

April 5, 2006 – November 20, 2006

When our beautiful daughter Kate was born, it was immediately clear that she wasn’t well. She suffered a seizure a few minutes after birth and was admitted to the neonatal intensive care unit at Valley Medical Center in Kent. Kate underwent eleven days of extensive testing at Valley to try and discover the case of her continuing seizures. With no answers, Kate was transferred to Children’s Hospital where she became a patient of Dr. Saneto.

Twenty six more days of testing of all types yielded puzzling and inconclusive results. She finally came home at 37 days old, but continued to have intractable and progressively more severe seizures.

At three months old, Kate was admitted again to Children’s to begin the Ketogenic diet. During her stay, skin and muscle biopsies were taken and sent to labs on the east coast, due to lack of facilities to do the tests in Seattle.

Every day we had with Kate that summer is indelibly etched in our hearts. But on November 15th, after nearly three months of waiting, we got the test results back. Kate was diagnosed with a mitochondrial abnormality, the precise nature of which raised more questions than answers. Dr. Saneto wanted to do further tests to clarify the results.

But further testing wouldn’t be possible for Kate. The day after we received the test results, Kate suffered a cardiac arrest. On November 20, 2006 at the tender age of seven and a half months, Kate died.

It is impossible to say that if we’d had an earlier or more definitive diagnosis, things might have been different for our precious daughter. It is, however, our firm belief that additional research in the new science of mitochondrial disease will help other children like Kate live longer healthier lives.

Heidi & Mark Cassidy

Katelyn’s Story

With great joy we welcomed our first born daughter, Katelyn, on October 30th 2008. From the beginning, Katelyn was your textbook angel baby – she rarely cried, and slept most of the time. However, we could not shake the nagging feeling that something was not quite right with her. Katelyn struggled to eat and gain weight and she had terrible reflux. She didn’t connect with us, and we questioned whether she might have visual problems. Our fears that something was wrong were confirmed when we almost lost her one night when she was only 12 weeks old. She was rushed to Seattle Children’s Hospital in status epilepticus, a prolonged, life-threatening seizure that would not end without medical intervention. We are forever grateful to the Northshore paramedics and the wonderful doctors at Seattle Children’s for saving Katelyn’s life that night.

Unfortunately, this episode marked the beginning of Katelyn’s ongoing chronic health issues. Katelyn was diagnosed with a catastrophic seizure disorder called malignant migrating partial epilepsy of infancy (MMPEI). The prognosis for children with MMPEI is devastating- intractable seizures, developmental cessation/regression, and a very short life. With less than 100 reported cases of MMPEI, much remains unknown about this disorder, but Dr. Saneto felt that the signs pointed to a mitochondrial defect as the likely underlying cause of Katelyn’s MMPEI syndrome. A muscle biopsy confirmed that Katelyn has a profound deficit in mitochondrial complexes 1 and 3. The diagnosis of mitochondrial disease provides an explanation for many of Katelyn’s health problems including intractable seizures, a movement disorder, low muscle tone, low energy, dysautonomia, impaired immune system, and numerous sensory issues.

At 33 months old, Katelyn is profoundly delayed in all areas. She is able to sit with support, roll, and occasionally bear weight on her legs for short periods. She loves to smile and laugh, but gets frustrated that she can only express her pain and dislike by crying. Last year we made the very difficult decision to tube feed Katelyn. Katelyn was spending most of her waking hours struggling to eat, causing weight loss and dehydretion. She now receives medication and vitamins and eats most meals through her G-tube . The G-tube dramatically improved Katelyn’s quality of life. When Katelyn does have the energy, she still enjoys eating and has been on the ketogenic diet for the last 18 months. It has become effective in reducing the number of her seizures. Her favorite keto-food meals are bacon/egg casserole and blueberry muffins.

Despite all of the challenges that she faces, Katelyn is a delightful child. Her smiles and laughs melt our heart, and her strength and resilience make us proud. We feel very lucky that Katelyn receives excellent care from Dr. Russ Saneto and Pam Sligh at Seattle Children’s. We thank you for your support of the NW Mito community, and hope that you will see what we do in our amazing daughter, Katelyn, and she will inspire you to help us find a cure.

Jennifer & Andrew Mhyre

Maclin’s Story

Maclin’s first two and a half years of life were fairly normal. In 2003 Mac experienced his first seizures and hospitalization. From that point on Mac was treated for unexplained seizure disorder. Over the course of 2 years he would have a few seizures, improve, and then have a few more. We tried multiple meds with mixed results. In September 2005, Mac’s seizure activity greatly increased. We went to the hospital for an extended EEG, but gained no better information on Mac’s seizures. Mac was given Dilantin to get the seizures under control, but it made Mac so wobbly that he could not walk or sit up on his own. We were sent home from the hospital after a couple of days, and were told the seizures should stop. They did not stop, and actually increased in frequency.

We finally went to Children's Hospital in Seattle in October 2005, committed to not going home until Mac could walk and was seizure free for at least 24 hours. During our stay at Children's, we crossed paths with Dr. Saneto. After 10 or so doctors had seen Mac, Dr. Saneto was the one who gave us the answers we sought, and diagnosed Mac with the mitochondrial disease Glutaric Acidemia Type 2 (GAII). In addition, many docs felt that Mac's ataxia was possibly permanent, and that he might never walk again. Dr Saneto was firm in his belief that Mac had GAII, and that he would get better. We started

Mac on a group of amino acids and vitamins believed to help patients with mitochondrial diseases, and Mac stopped seizing almost immediately. He was also given a seizure medication and was put on a diet that restricts fats and proteins.

By the fall of 2008 Maclin had only had one seizure in nearly four years. He was even taken off his seizure medication briefly, but had seizures again and was placed back on medication.

Mac is in fourth grade and is making excellent progress in school. He is a good swimmer and has mastered the crawl stroke. He is also very involved in rock climbing and robotics. Mac looks like a normal kid. However, we know how special he is. While he is learning to do a great job managing his own diet, he can get a bit wobbly and “excited” when he has not had enough to eat, or gets tired. We often get looks or comments from people in public when he is wobbling a around a bit and bumps into people. We smile, apologize and think to ourselves how thrilled we are that he is able to bump into people at all. Maclin has the life he does because of the efforts of Dr. Saneto and Children’s Hospital. We are so grateful for all that Dr. Saneto, the Mito team and the NW Mito Research Guild have done for our son and our family.

Dave and Kristen Gormley

Mariah’s Story

November 5, 1995 – July 7, 2009

Mariah Nicole Turner, passed away at her family home in Hunters, Washington on July 7, 2009. She was 13 years old.

Mariah did her best to live a lifetime during her 13 years. She began her battle with Mito-chondrial disease at a young age and was formally diagnosed at the age of 8. Mariah never let her gradually disabling disease bring her down. When it came to things she wanted to do, Mariah found a way. As a young child, she loved taking dance classes and also played pee-wee basketball and t-ball. Mariah loved the outdoors, regardless of the weather. Her accomplishments included cheerleading, being a bridesmaid in her brothers’ weddings, taking a “Make-A-Wish” Disney cruise, and participating in AWANA and Vacation Bible School activities. Her favorite school subject was spelling, and often corrected her older siblings on their spelling. As her fine motor skills diminished, Mariah became unable to walk and write. She then found great enjoyment in swimming, which afforded her a new freedom. With the love and support of many helpers, Mariah had recently completed the seventh grade.

Mariah loved to entertain those around her. Even with her increasing physical challenges, she was aware of the needs of others and helped whenever she could. She had an unwavering dedication to her faith and the Cedonia Community Church. Mariah had the ability to light up a room and her presence will be greatly missed by all who knew her.

Mariah is mourned by her mom and dad, Paul and Brenda Turner, her brothers and their families.

Max's Story

Our daughter Max is one half of our set of twins. This year Max and her brother are 12 years old. This is a big milestone in our little big girl's life. We never thought seven years ago that we would see this day. By the time Max was five years old, her mitochondrial disease had caused a crisis. She was in respiratory failure and we were advised to complete DNR instructions.

But Max survived, and today we have a wonderful, smart 12 year old who knows a lot about mitochondrial disease. She knows she doesn't have the energy to do what other kids her age do easily. She understands mitochondrial disease has many different faces, and it presents more challenges for her than it does for her brother Chris, who also has the disease.

Max dreams big and Max finds ways to fulfill her dreams. This year she climbed an 85 foot pole to do ziplining. What an achievement!

Last winter she skied once again with Disabled Sports USA Far West at Alpine Meadows in California. In the spring she helped kick-off a fundraiser for DSUSAFW at one of our local elementary schools along with a teacher who volunteers with Disabled Sports Far West. She helped 500 kids understand what it is like to ski with a sit-ski.

Max continues to love science. This spring she announced her dream is to be a quantum physicist some day. As parents, it is our job to help our kids fulfill their dreams. Success in mitochondrial research, to find a cure, is critical for our children to live their dreams. Please join us in supporting Seattle Children's efforts on behalf of our kids.

Rosy and Jim Austin

Megan’s Story

Megan was born in September 1998. At age two, she started having occasional but severe headaches. These headaches would last for a day or more, but no one had any idea why this was happening. When she was five, Megan was diagnosed with type 1 diabetes. We moved to Seattle in 2005, and discovered that Megan’s condition was complicated by an underactive thyroid. Managing type 1 diabetes was a 24/7 task for Megan, but we never imagined what was coming next.

In 2009 Megan’s ophthalmologist noticed that her eyes were puffy and her eyelids were a bit droopy. Megan also failed a hearing screen at school. Our ophthalmologist was convinced that all these symptoms were not just a coincidence and sent us to see the folks in genetics.

After 8 long weeks of waiting, the results of Megan’s blood work confirmed a diagnosis of Kearn-Sayre Syndrome. It is a neuromuscular disorder caused by abnormalities in the DNA of mitochondria. This condition is very rare. From what we can find, Megan is one of only a few hundred people in the world who have KSS. When we read some of the information about Kearn-Sayre Syndrome, it was nothing short of terrifying. It is progressive, and can impact many of the organs and tissues of the body. Limitation of eye movements, hearing loss and heart issues are common. We had an answer that explained Megan’s symptoms, but nothing but questions about her future.

Shortly after finding out about KSS, Megan rapidly developed heart block. Together with her healthcare team, we decided that she should have a pacemaker placed, which was done at Children’s in February, 2010. Because KSS has a very high risk for serious complications from anesthesia, we were terrified, but everything went well. While we had some interesting times with her new pacemaker, everything has settled down and she’s doing well.

KSS is causing Megan to lose most of her ability to hear and she now has profound hearing loss. In January she had to transfer to the Northwest School for Hearing Impaired Children, as our school district did not have the ability to meet her needs. Megan loves her new school and is learning sign language and how to communicate with the hearing world. She hopes to come back to our home district before she starts high school.

Megan’s team at Seattle Children’s has been incredibly helpful as we deal with Megan’s journey with KSS. It’s so comforting to know that while there’s no cure for KSS there is hope!

Pam & Dave Charney

Michelle’s Story

Michelle’s story is not as dramatic as her sister Sarah’s but it is equally important. Michelle has never gone through seizures and experienced the types of problems her sister has, but she has experienced other less threatening problems. At the age of six, Michelle started having migraine headaches on a monthly basis. She also had other minor medical issues and while she performed well in school, she struggled with reading and writing. While we do not have a firm diagnosis that Michelle has mitochondrial disease, all the medical tests we have done indicate that mitochondrial disease is a probability. Given the great results we saw from Sarah taking a vitamin cocktail, eight years ago we worked with Dr. Saneto to put Michelle on the same vitamin regimen. Since then all of her issues have gone away; her migraines have stopped, and other medical issues have improved. Michelle is now a senior in high school and excels in reading and writing and is an avid learner. Last year, Michelle spent six months going to school in South Africa and she is now focusing on her future as she figures out what her college plans are. Who knows what we would be facing today if we had not learned about the disease from her sister. Instead, Michelle is a vibrant, beautiful girl that loves life and is enjoying every minute of it.

Jill and Ed Herczog

Samantha's Story

I brought Sammy home from the hospital at two days old. I knew right away there was something wrong. At two weeks old we made our first trip to the doctor with severe ear infections and thrush requiring her first round of antibiotics. Sammy also had severe hyper tonicity and constant muscle jerking. We were referred to the Neurology clinic and Dr. Saneto at this time for an EEG and an MRI. The EEG was negative and the MRI showed some mild hydrocephalus but no real reason for the constant jerking. Her reflux was causing her to silently aspirate, resulting in numerous respiratory infections. So Sammy began to sleep on a wedge so she could sleep without coughing and choking at night. At seven months old Sammy had ear tubes placed, which helped reduce the number of ear infections. Sammy continued to have severe developmental delays and gross motor difficulties.

We still didn't have a diagnosis so it was back to Children’s for workups in the nephrology, metabolic and the pulmonary clinics. All the results were still negative until Dr. Saneto repeated the MRI, the result of which led to a muscle biopsy and the discovery of a mitochondrial cytopathy. At last we had a diagnosis but no cure. Sammy was started on the Mito cocktail and has made a lot of progress. We were also part of the DNA banking research study at Children’s which led to the actual diagnosis of the gene mutation Samantha has, POLG1 gene mutation. Still no cure but now a more fine tuned diagnosis.

Sammy is now 4 years old. She can walk and run. She still has gross motor problems and falls a lot but is willing to try anything. She went skiing this year and started swim lessons and loves her ballet and tap classes. When Sammy does anything physical we just plan ahead and make sure she has had plenty of carbs and complex sugars. We take snacks where ever we go to help in case her energy level drops. Sometimes we have to just stop, but Sammy is always willing to try. Sammy’s big accomplishment was graduating from the Alpentykes ski program this year. Sammy still has severe reflux and takes multiple medicines for this. She is still aspirating so we have to thicken her liquids, and requires one on one supervision for eating. Sammy has had some setbacks in motor skills this year so we are back at physical therapy. She is a happy and loving little girl who brightens every day with her big blue eyes and sparkling personality.   

Kristen Lindeman

Sarah’s Story

Sarah’s childhood started out like any other child. She was a very active girl that loved to draw and lived for gymnastics. One day when she was in 2nd grade, life changed fairly significantly for Sarah and our family. Sarah woke up one morning acting kind of funny so we told her teacher to call us if she noticed anything unusual. Three hours later, the teacher called and when we arrived at school, the daughter that we knew was gone. This new Sarah did not know her name, she did not know us and she couldn’t tell you the color of the sky. This is how we ended up at Children’s Hospital for the first time. After several hours and all kinds of tests, the doctors finally determined that Sarah was having a very serious type of seizure, called status epilepticus.

Sarah began treatment for epilepsy. But even with treatment, Sarah continued to have problems. Over the next two years, she lost weight and she regressed developmentally in school. For us, it felt like our daughter was wasting away in front of our eyes. Some days she was so tired that she could only make it through half a day of school. Finally, after several more hospital visits and seeing multiple doctors, Sarah was diagnosed with having mitochondrial disease.

As soon as we received this diagnosis, Sarah was put on a vitamin cocktail (25-30 vitamins a day) and immediately began to improve. Almost ten years later, Sarah is still taking the vitamin cocktail and is leading a wonderful normal life as she begins her third year of college at Emerson College in Boston, Massachusetts. There was a time several years ago when we could not have imagined the day that Sarah would be heading out on her own, and we are extremely grateful to Dr. Saneto and Seattle Children’s for the role they have played in helping Sarah become the confident young woman she is today.

Jill and Ed Herczog

Seth’s Story

Hi, my name is Seth Cruz and I was born on June 3, 1991. I don’t remember when I was diagnosed with mitochondrial disease but I guess I’ve dealt with it all my life. Being diagnosed with mito really has been a journey with many ups and downs. I have struggled with depression, mental struggles, motor struggles and many health problems.

Some of the ups along this journey have included having the support of my parents and my family. Also, meeting the Herczogs and the others in the Guild has been helpful, knowing others who deal with similar troubles. I went on a Make A Wish Trip to Alaska to see the bald eagles and watch whales. Being involved in special education and Special Olympics has also been very important to me. I have met wonderful people who also have to deal with many different challenges.

I am 20 years old now and I’m going to look at my future hopefully. I will have a job and stay involved in Special Olympics. I will continue my passion for animals and writing song lyrics. I will continue to exercise, go to church and enjoy music. Many people put down people who are different than they are. But we are no different than you are and we have the same hopes and dreams. Thank you for your support and I hope you continue to support the guild in the future.

Seth Cruz with Matt & Cindy Cruz

Stephen’s Story

Our son Stephen was a little unusual at birth, but all things seemed normal enough that no one questioned too much WHY he was hypoglycemic at birth, a poor feeder, a little floppy or why he lagged behind on gross motor skills as he grew. But at 8 months old, Stephen was admitted to Children’s ICU fighting for his life. What began as a typical cold or flu triggered the beginning of a severe metabolic crisis including cardiomyopathy, liver problems, retina damage, total lung collapse and partial heart failure. After nine tumultuous weeks at Children’s we gratefully welcomed Stephen back home.

Stephen was diagnosed with Trifunctional Protein Deficiency (TFP), a secondary mitochondrial disorder in which fat cannot be metabolized for energy. Fat that is not used for energy becomes toxic, and fasting for even three hours causes hypoglycemia. Published data about TFP and survival rates are sobering to say the least.

It’s hard to believe, looking at him now, how sick he was and how sick he can become from neglecting to follow dietary and supplemental guidelines for TFP. But we have been truly humbled by the importance of good energy production from the mitochondria. Stephen will never grow out of his condition, but his health currently is stablized with vitamin supplements, low fat diet, and frequent small meals.

Doctors and dieticians at Children’s did an amazing job of saving Stephen’s life and coming up with a plan for ongoing maintenance. Stephen is among a new generation of kids who are living and thriving with mitochondrial/metabolic disorders.

Stephen is starting fourth grade this year, and is entering a highly capable program. He loves trying to get his three older sisters’ attention, loves puzzles, computer games, doing “experiments” and figuring out how things work. Stephen would like to be a scientist and inventor when he grows up. We celebrate the miracle of Stephen’s life every day.

Val and Diane Nielsen

Teresa’s Story

When our four-year-old daughter Teresa fell asleep with her head on a picnic table one May afternoon, we had no idea that it would lead to a diagnosis of epilepsy and mitochondrial disease. What we had attributed to spring flu was actually her first seizure. Later that same evening, we watched in horror as Teresa collapsed in the driveway with a grand mal seizure.

An early diagnosis of epilepsy and two weeks of controlled seizures led us to believe that the worst was over. But then Teresa began to stare off suddenly for a few seconds at a time, especially after waking in the morning. Soon she began having grand mal seizures again.

Teresa was placed on various seizure medications, until things came to a climax when she began to walk wobbly and talk drunkenly. She was admitted to the hospital with dangerously high ammonia levels. Her neurologist, in consultation with Dr. Russ Saneto, recommended that Teresa be immediately air-lifted to Children’s Hospital in Seattle.

Teresa ended up in the care of Dr. Saneto, who was able to put all of the data together and conclude that Teresa had a mitochondrial disorder. She was immediately switched to better seizure medications and given a prescription for a vitamin cocktail. A year and a half later, Teresa’s seizures stopped.

Teresa is now in seventh grade, loves to read, dance, play piano and sing. She dreams of becoming a fashion designer, a nurse, or even a “star of the stage,” singing and dancing her way into people’s hearts.

From the very beginning, Children’s Hospital and Dr. Saneto made us feel welcome, comfortable and hopeful. We will always be grateful for the care that Teresa has received and continues to receive at the hands of Dr. Russ Saneto and the people of Children’s Hospital.

Nick and Brenda Senger

Tom’s Story

Tom was born in 2001 with the cord wrapped around his neck. He stayed in the hospital four days and only days after leaving, was readmitted due to weight loss because he struggled to nurse and stay awake. When he was awake, he was ravenous but once he ate he’d throw up from severe acid reflux which caused him to cry constantly. The whole cycle would then begin again.

By 6 months, it was obvious that Tom was experiencing developmental delays. He could not yet sit up and at 12 months he could still not crawl. Tom began to rapidly lose weight which finally caught our pediatrician’s attention. Tom was diagnosed with “Failure to Thrive”. We were then sent on to Children’s for a barrage of tests which led to a muscle biopsy. Four long months later we received a diagnosis of global mitochondrial cytopathy. We were relieved to know what we were dealing with but had a lot to learn.

Tom needed support to make up milestones he had missed. Kindering Center’s wonderful services served Tom until he was three at which time the Northshore School District took over. He is going into fourth grade and will continue in the ‘integrated’ program at Hollywood Hill sharing an aide who helps him with social, adaptive and motor skills, and therapists that work on occupational and speech therapies. These special women work with him on a daily basis and truly care about him making his school day a positive experience. I couldn’t be more thankful!

Tom’s energy level and overall muscle weakness continue to be an issue and as he’s gotten older. He simply avoids doing things that are “hard” for him. Dr. Saneto told us long ago that we need to steer Tom in directions where he can be successful so that’s what we do! He loves his dog, Legos, movies, Harry Potter and participates in karate, acting and music. We are thankful for his amazing imagination, big heart and beautiful spirit.  Tom is a true blessing!

Ashley and Andy Farrington  

Xander’s Story

Xander Michel Pearce Brooks was born in 2005 and welcomed into our family through adoption. At around four months of age, he began to have difficulty with vomiting after feedings and was not gaining strength.

These problems resulted in our introduction to the infamous and invaluable Dr. Saneto as well as an extensive round of blood tests, skin and muscle biopsy, and an MRI/MRS. Dr. Saneto quickly determined that Xander had a mitochondrial disorder, the exact nature of which is still unknown. After a lengthy hospital stay, we brought Xander home from Seattle Children’s Hospital and embarked on the journey that is caring for someone with a mitochondrial disease.

Xander just celebrated his sixth birthday and is a First Grader! When not being his feisty and funny self, he continues doing hippotherapy at Little Bit Therapeutic Riding Center, a myriad of other therapies (including OT, PT, Speech and Feeding) as well as aqua therapy at home in his pool. Four years out from his last hospitalization (knock on wood!), Xander recently underwent hip release surgery that, incredibly enough, has resulted in his attempting to learn how to walk. Who knew?! Cognitively, he continues to be a rockstar (the mohawk/fauxhawk doesn’t hurt!) and his overall strength and endurance continues to progress in the right direction.

With unbelievable will, drive and determination, Xander continues to keep those who love and care for him in total shock and awe. This amazing little man continues to touch the lives of everyone around him in ways we can’t even begin to describe. Once again, we send love and incredible gratitude to all who help care for and support him and our family.

Martin C. Pearce & Shane O.P. Brooks

For additional information on how you can help please contact Jill Herczog at j.herczog@nwmito-research.org or Ashley Farrington at a.farrington@nwmito-research.org.