Mito Kids

• Maclin
• Cassandra
• Bryson
• Stephen
• Griffin
• Teresa
• Sarah and Michelle

Speech by Dave Gormley at the 5th Annual Cure for Mito Auction

September 14, 2007 (Dave spoke after a short video on Maclin was shown)

Well, that's Mac! He has Gluteric Acidemia Type 2, which is a Mitochondrial Disease. And believe it or not, there was a period of time where that Mac in the video was almost lost. Children's and Dr. Saneto were the answers to our dreams and prayers.

First, I need to clarify a few things. Mac is 6 (he'd had a birthday not long before this was filmed). His sister Maggie is 3 and a half. He mentioned the Little Mermaid as his favorite book? That was news to me! He is more into the Tree House Books, pirates and Antarctica, and we often call him Mac Sparrow. He only spent three weeks at Children's, not three months. And finally, yes, his Mom and Dad get very worried when he has seizures.

Mac had his first seizure on November 28. 2003. That started us on a 2 year odyssey of unexplained epilepsy that did not respond well to medication. Over those 22 plus months Mac went from maybe 8 to 12 seizures in the first year to where he was having 5, 6, 7, 8, 10 per day. Mac was hospitalized many times prior to coming to Children's, and we feel he had a great doctor. Nobody could figure out what was causing Mac's seizures, or how to treat him. Ten days before we came to Children's, Mac spent 3 days in the children's hospital in Tacoma. He was having 6 or so seizures per day. An extended EEG was done to capture his seizure activity, but it provided no information for treatment. In an effort to stop his seizures, Mac was blasted with Dilantin. Mac had walked in to the hospital, and now because of this Dilantin he was so ataxic (wobbly) that he could not walk, his speech was affected, and we had to strap our 4 year in a high chair so he could eat without hurting himself. As we would later learn, Dilantin is really bad if you have a Mito disease. Now Mac was having seizures with even greater frequency. One crazy doctor told us that he really wasn't a good candidate for any epilepsy treatments, and that a drug like Phenobarbital, with all its horrific side effects, was what he needed to stop his seizures. After a few days, we were sent home and told his seizures and ataxia should get better. They did not.

On October 7, 2005, Mac went to Children's hospital. I had been traveling that week, and Kristen had been home with the kids. It was a horrible week for Mac. All he could really do was watch movies lying on the couch, and when he "sensed" a seizure coming, he would slide down to the floor. It was gut wrenching! I was flying back to town that evening and Kristen called and said THAT'S IT! Mac is going to Children's right now! That night some idiot decided to jump off the Narrows Bridge, so the journey from our house took a long time. I met Mac, Kristen and her brother Brad at Children's. I remember calling a family friend who is a neurologist in Billings and asking him, for the first time, if Mac's life were in danger. He said probably not his life, but his quality of life was in grave danger.

When we got to Children's Hospital, it was just a different place. Of course Mac had a seizure in the emergency room, so we got right in. The attending neurologist came from home and spent two hours with us taking his history. She told us he really hadn't failed any meds, and that he would not go home until he was seizure free for 24 hours, AND he could walk out of there. As we both fought the tears, we believed her!

Mac spent 21 days at Children's Hospital. We met Dr Saneto on about day three. We liked him right away. We wanted him to be Mac's doctor. He told us his patients are the really sick kids, and we probably wouldn't work with him. Over the course of the next week, the tests on Mac flagged him as potentially having a mitochondrial disease. Dr. Saneto told us that Mac would indeed have a new doctor, and it would be him. We were thrilled! Over the next few days, we had a diagnosis we could research. We got a course of treatment, and we got a Doctor who believed that although Mac was deep in a metabolic crisis, he would get better. At this point Mac was still not able to walk or sit up on his own, and most of the doctors disagreed with Dr Saneto's diagnosis. In fact, about half of them thought Mac had been overdosed on Dilantin, and that he might never walk again. Dr Saneto put Mac on the Mito cocktail of amino acids and vitamins and he stopped seizing almost immediately. Unbelievable! He blasted Mac with his seizure medication, and he was unwavering in his belief that Mac would walk out of there. Oh, and he introduced us to the NW Mitochondrial Research Guild. Of course Jill, Sarah and Michelle came to visit us right away. At this point, we started feeling like things were going to be ok. In fact, we set the dream of getting Mac home for Halloween, but we missed it by a day. Mac did not quite walk out of Children's on his own, but pretty close. Oh, and he made his first ski turns after Christmas that year. As of today, he is almost 23 months seizure free.

What does Children's Hospital, Dr Saneto and this Guild mean to us and other families of children with Mito diseases? Hope! Hope that dreams can come true. We are blessed to have a leader in the Mito field like Dr Saneto to build around. He is truly gifted, and as far as we are concerned, he saved our son. Our guild has evolved through the work of lots of people, especially the leadership and commitment of Jill Herczog. Our guild has many functions including helping to create a Mitochondrial Disease Center of Excellence at Children's, helping to push the efforts of Mitochondrial Disease research, and of course working to raise awareness and education relating to all Mito diseases. Other children might be able to avoid what Mac, and all the Guild kids have endured, by having a physician just consider that a specific set of symptoms could be from a Mito disease. All children deserve the energy to live their dreams!

I remember about 6 months after Mac was in Children's Hospital. We were playing in our family room. Mac asked his Mom a question that hit us both really hard. "Mom, when will Maggie have her first seizure?" We both teared up as we told him we hoped she never would. It was a question we had asked ourselves many times. As you may know, these Mito diseases are genetic disorders, and as such, Maggie has a 25% chance of having GA2. Now if you know Maggie, and know that Mito is an energy impacting disease, I think it is safe to say we are in the clear. However, we do know that if she did begin to show the possibilities of having Gluteric Acidemia type 2, we are in the best place possible for her treatment and care.

Thank you!

Cassandra's Story by Mark and Marquelle Simmons

We write these words in loving memory of our daughter Cassandra ,who was born at 36 weeks gestation. Cassandra spent the first three weeks of her life in the N.I.C.U at Providence Hospital. After many tests, the doctors finally discovered that Cassandra was suffering from Mitochondrial Disease. As a result of Mitochondrial Disease, Cassandra suffered from epilepsy, hearing and vision impairments, and developmental delays. It was these things along with a heart condition that took our daughter's life which were all due to complications of Mitochondrial disease.

Three year old Cassandra was wheelchair bond and unable to sit up or rollover without assistance . She had a smile that lit up a room and a laugh that we now know is straight from heaven. 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 life.

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

October 6th 1999 - May 19th- 2003.

Bryson's Story by Sue and Brian Potter

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 started to develop including excessive weight gain, balance issues and sleeplessness - something was not right. Numerous blood test and MRI results showed something "metabolic" but no physician was giving us a diagnosis. We traveled from Idaho to Children's Hospital in April of 2002 with the intentions of getting some sort of diagnosis within a week or so. We met many doctors that first day and received a preliminary diagnosis by a neurologist that it might be Leigh's syndrome. Bryson was deteriorating quickly. Just three days later he was put on life support and all we could do was pray. With the doctors unable to do muscle and skin biopsies we did not know for certain yet if Bryson had this degenerative disease, but the neurologist recommended supplements that we would find out later would become part of his daily regimen. Finally after twelve long days he was off the ECMO and respirator supports and we would have new challenges of teaching him to talk, eat and walk all over again. After three months of making Children's Hospital our home we were a little weary of leaving the support of the hospital and the expertise of the neurologist.

Bryson continues to have physical and occupational therapy but he looks and acts like any normal seven year old. He has been diagnosed with a disease vaguely named mitochondrial cytopathy. Because so few people know of his disease and the future affects on his body a prognosis is unclear. Currently we are involved in the Mitochondrial Research Guild to raise awareness and to find a cure for this disease. Thanks to Children's Hospital and its many dedicated professionals, volunteers, staff and generous donors Bryson is still with us.

Stephen's Story by Val and Diane Nielsen

In July of 2002 we were abruptly introduced to Children's Hospital when our son, Stephen, only 8 months old, was admitted to the ICU fighting for his life. What began as a typical stomach flu had triggered the beginning of a severe metabolic crisis because his body literally ran out of energy. Toxins were building at the same time causing liver, heart, and brain dysfunction and eye damage. The geneticist explained the details of this rare disorder to us and endured our endless questions with great patience. Within two weeks of ongoing weakness and pneumonia his lungs collapsed and then his heart began to fail. We were presented with two choices; we could turn all the machines and IVs off and hold him as he passed away, or we could choose a once-in-your-lifetime-only heart/lung bypass called ECMO.

A few blessed doctors believed Stephen would make it and we couldn't give up. After 9 agonizing days he was taken off ECMO and he would inch his way to recovery. After nine weeks at Children's we welcomed Stephen home. He still had hypertrophic cardiomyopathy, liver problems, and retina damage as a result of his crisis.

Now at age four, Stephen is a rambunctious preschooler, full of energy and ideas about the world, and many of his medical problems have resolved with proper treatment. He will never grow out of his condition but now that he is stable, it can be managed with medication, frequent eating, and extremely low-fat, high carb diet. We believe the doctors at Children's are making a difference for kids like ours, and we celebrate the miracle every day with our family still complete.

Griffin's Story by Crista Johnson

Children's is an integral part of our family's life. Griffin arrived in the ER on May 10, 2001, at 5 months of age. He was having seizures and neurologist quickly confirmed something was seriously wrong. Griffin started a 14-week treatment of a powerful steroid but he continued to seize. We could walk to the pharmacy in our sleep and spent countless hours on the Internet learning about his condition called Infantile Spasms (IS). We were also introduced to the Ophthalmology clinic because his seizures originated in his occipital cortex. Developmentally Griffin remained an infant and continued to get all his nutrition from a bottle. He needed to eat frequently and as a result of the high sugars, Griffin eventually has to undergo dental surgery to repair and save his teeth. As time went on Griffin continued to grow although his behavior was incredibly challenging and his development progress was slow since we still did not have seizure control. After a year we transitioned to a new neurologist, Dr. Saneto, who suspected that Griffin might have a rare mitochondrial disorder and that all the issues he was having were related to this systemic disease. A muscle biopsy confirmed it. Griffin made incredibly slow progress so we decided to try the ketogenic diet in an attempt to control his seizures.

Today Griffin remains on the ketogenic diet and has the best seizure control he's had to date. Developmentally he is still trying to regain some of the milestones he lost in 2004 due to all his hospital stays but he remains relatively healthy and keeps trying. We are intimately acquainted with Seattle's Children's Hospital and many of the doctors who are sincerely interested in Griffin's progress and how it affects our entire family. Additionally I am a guild member helping to raise funds for other children like Griffin who are affected by mitochondrial disease and epilepsy.

Teresa Senger

Nick Senger from the 4th annual "Cure for Mito" auction on Friday, September 22, 2006 at the Willows Lodge in Woodinville, WA.

A year ago, my wife Brenda and I took our four children to Disneyland, the Happiest Place on Earth. And for us, it was definitely one of the happiest times of our lives. But maybe not for the same reason as everyone else there. Of course, we enjoyed Pirates of the Caribbean and meeting Mickey and Pooh Bear, but we had another reason for celebrating. You see, just a year prior to our vacation, my wife and I wondered if our family would ever be able to take a vacation again.

Our four-year-old daughter Teresa had just been diagnosed with epilepsy, and the seizures were getting very difficult to control. In May of 2003 Teresa collapsed in our driveway with a grand mal seizure. That summer was spent in watching Teresa endure grand mal after grand mal, and in trying various different seizure medications.

Things came to crisis when a certain medication caused her ammonia levels to go so high that her speech began to slur and she wobbled when she walked. She was hospitalized immediately, and then came the sudden news that Teresa needed to be flown by air ambulance from Spokane to Children's Hospital in Seattle, that perhaps she had something more than epilepsy.

I still remember the scene, Teresa strapped to a gurney, my mother-in-law trying to comfort my wife, my father-in-law trying to comfort me. For me, this was the darkest moment of Teresa's entire illness. What I didn't know, of course, was that this was actually the turning point. Events had been set in motion that I know were divinely inspired.

You see, we only really knew one person in Seattle, Brenda's best friend Cindy. They had gone to nursing school together in Lewiston, Idaho, and had kept in touch ever since. Guess where Cindy worked, here in Seattle. That's right, Children's Hospital. Teresa was being sent to the only place in Seattle where we actually knew someone.

What's more, in all of Seattle -- in fact, in all of the Northwest -- there was really only one person who could have recognized that Teresa's epilepsy was actually the result of a rare disorder called Mitochondrial Disease. That one person was Dr. Russ Saneto. And guess who worked with Dr. Saneto as a nurse. Cindy. Not only did she work exactly where Teresa was being sent, she worked with the only mitochondrial specialist in the Northwest. But at that moment, we had never even heard of mitochondrial disease. All we knew was that things were very serious, and that our little girl had to fly in an air ambulance to get the help she needed.

When Brenda and Teresa got out of that ambulance at the doors of Children's Hospital, Cindy was there waiting for them. And when Dr. Saneto arrived, things immediately began to look up. He immediately changed Teresa's medications and the grand mal seizures stopped.

Dr. Saneto thought that Teresa might have a mitochondrial disorder and to confirm this, he requested that a muscle biopsy be done on Teresa. Though the biopsy was performed in October, we didn't get the results for over four months, since there is only one person in the United States who can analyze these kinds of biopsies.

We learned that Teresa did in fact have a mitochondrial disorder. We also learned that at this time there is no cure for mitochondrial disease. There is, however, much work being done by Dr. Saneto and others to treat the disease and to find a cure.

In addition to her seizure medications, Teresa was then put on a regimen of vitamins, Carnitine, and other supplements. After being on this vitamin cocktail for several months, she began growing again and putting on weight. Not only that, but her seizures stopped.

When we asked Dr. Saneto why the seizures had stopped, he gave the answer that everyone who knows him gets used to: he shrugged his shoulders, lifted his eyebrows and said, "I don't know." That's the thing about mitochondrial disease - we still know so little about it, and we have to find out more. We have to continue to fund research and find resources to help children like our Teresa realize their dreams.

On that vacation to Disneyland a year ago, Teresa's one desire, her big dream, was to meet Sleeping Beauty and get her autograph, even if it meant standing in line with hundreds of other kids. She and I happened to be walking by the castle one morning, and who should come out of the door but Sleeping Beauty. And she wasn't alone. Prince Charming was with her. Teresa asked for an autograph, but Sleeping Beauty said she was sorry, she had to go ride on the carousel. Before Teresa's face even had time to begin to get downcast, she added, "Would you like to walk with us?" Beaming from ear to ear, Teresa took Sleeping Beauty's gloved hand and was personally escorted to the grand carousel, where Prince Charming lifted her onto a beautiful stallion next to Sleeping Beauty. They talked and smiled and laughed, and when the ride was over, Sleeping Beauty walked hand in hand with Teresa to where I was waiting outside the carousel fence. They gave each other a hug, and Teresa left Sleeping Beauty to make other kids' dreams come true.

That's what it's like to be a patient at Children's Hospital. You arrive with dreams, and you get to see whales, and trains, and balloons, and the people hold your hand, and, when you leave, other kids arrive, full of their dreams. I hope you don't mind me saying this, Dr. Saneto, but there's even a Prince Charming in our midst. Your care and expertise brought our Sleeping Beauty out of her slumber and back to life again. During her illness she had become tired and lethargic, but you gave her back her energy - her energy to dream. That other place may have the trademark, but for us, Children's Hospital will always be "The Happiest Place on Earth."

The Children of the Mito Guild

By Sarah Herczog

Presented by Sarah and Michelle Herczog at the 2nd Annual "Cure for Mito Auction"

Sarah:

Hello everyone, thanks for listening today
My sister and I have something to say
We've been coming to Children's since we were quite small
But when we were born we had no problems at all
Our problems began when I became eight
For me and my sister it did not look great
After some tests with successes and flaws
The doctors determined mitochondrial disease was the cause

Michelle:

This disease makes you unable to function the right way
Because it reduces your energy, and that's not okay
Because there is no cure the situations rather sticky
And your regular daily activities can get very tricky

Sarah:

Dealing with this kind of stuff does not put you at ease
We would know because we have this disease
The kids of the guild (us included) go through this everyday
So for each of the kids we have something to say

Michelle:

I will start off with Tom Farrington, he's almost four
He has a great personality and friends galore
He went in for surgery when he was much smaller
Today Tom is great and is growing much taller

Sarah:

Next comes Stephan McKay Neilson, two years old
He loves to hug his parents; he has a heart of gold
Tubes supply him with energy at night
He is now loving, fun and quite a sight!

Michelle:

Next comes Seth Cruz, thirteen years old
In the Special Olympics his T-Ball team got gold
Seth loves nature and animals; he is a very unique child
For his Make a Wish trip he went to see the Eagles in the wild

Sarah:

Next comes his brother, Ben Cruz age of nine
This boy really knows how to shine
When he has seizures and goes to hospital he gets really mad
But then he likes to move the bed, and order snacks which make him feel glad
He will make you laugh till your rolling on the floor
He's a splendid little boy, and never a bore

Michelle:

Next comes a boy named Griffin Lee
He's an amazing kid I'm sure you'd agree
Spending a week in the hospital or even more
In six months he will only be four!

Sarah:

Kara Densen is in second grade
No one will rain on this girl's parade
She's been to Children's hospital many times before
Sean (her brother) might have the disease they're finding out more
She is a great girl and really fun
She brings lots of joy to everyone

Michelle:

Well that brings it down to us
That's something we should discuss

Sarah:

Yes, Michelle you're absolutely right
You know you are very bright
At ten years old you've been through a ton
Blood draws and cat scans that were not much fun
But you held in there and made it through
You never complained and this is true

Michelle:

Well, you too Sarah are just as impressive
In this poem you were very expressive
Seizures and loss of memory scared everyone
IV's, surgery, you've been through a ton!
You are fun, exciting and really great
And this year you're graduating from grade eight

Sarah:

None of these children would even get by
If it weren't for the love that their parents supply

Michelle:

So Audience think about your loved ones at home
Think about your kids, young or full grown
If you lost some of these people how would you feel
For the Simmons family this is quite real

Sarah:

Cassandra Simmons is not here with us today
For at three years old she passed away
She is one of many who die from mito disease
So today we are asking you please?

Michelle:

We all go to Children's because it's number 1
The kids get good treatment and still have some fun
So open your heart and donate today
Because Children's is best in every way

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.