Maclin

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!

For additional information on how you can help please contact Jill Herczog at j.herczog@verizon.net or Ashley Farrington at a.farrington2@verizon.net.