This is our story and I want to share it with you. My name is Linda and Joe is my son. I also have a daughter, Kelly who is 31. Both of my children were normal growing up for the most part. Kelly, the older child, was very active in school and participated in several school activities. Joe had some delays such as walking, speech, and learning. He did all the things most kids do like riding a bike, playing ball and running. He even educated himself with numerous sports details. During Joe’s sophomore and junior years of high school in Pennsylvania, he attended a building trade’s class in which he designed and built two beautiful wooden boxes made with inlaid wood.

In September 1997, I noticed his walking was a bit unbalanced. He was starting to hold onto railings while going up stairs and grabbing onto something when he walked. So, after watching him for about a week, I took him to the doctor. His doctor referred us to a child neurologist in Pittsburgh. She was pretty certain what was going on, but said we needed to do a complete DNA blood work-up. We did and Joe underwent numerous tests: EEG, EKG, EMG, and a ton of MRI’s. In January 1998, she called me in and told me that Joe had Spinocerebellar Ataxia Type 2 (SCA2). She explained that this is an inherited disease. She put the cards on the table and said, "He will end up in a wheelchair, lose his finger dexterity, will probably end up with a feeding tube as he won’t be able to swallow without choking, and his muscles will weaken." Joe was 16 at the time; so of course, the hardest part of telling Joe was that he would not be able to drive. Once we had the diagnosis, his dad, sister and brother from Dad’s second marriage, all were tested. Dad’s mutations of the gene were high, which meant he has it as well. The other two kids were in the normal range, so they would not develop the disease.

From that point, we started to research. Unfortunately, genetic studies were minimal at that time, so we didn’t get much on the disease. After a few years, we found the National Ataxia Foundation in Minneapolis, Minnesota. We registered with them for newsletters. In the meantime, Joe and I moved to Texas to be closer to family. Joe completed his senior year at Lago Vista High School. He was still walking at this time. In fact, in May 1999 he had attended a prom before leaving Pennsylvania and then again in 2000 and 2001 in Texas. It was a great joy to watch Joe walk across the stage to get his diploma. He was in his sister Kelly’s wedding in 2000, and in a friend’s wedding in 2001. Joe began to walk a little more unstable. In late 2001, I introduced a walker to him. He was not happy, but I explained it was for safety and I didn’t want him to fall. He finally agreed and found it helpful. He continued to have a lot of muscle cramps and pain. His body was pretty sensitive to the touch. For a period of time, the Ataxia stayed dormant so to speak.

On May 9, 2003, Joe was playing his play station in his room. When he was done he reached down to shut it off, lost his balance and hit the floor very hard. He ruptured three disks in his spinal cord. He spent three months in the hospital, had surgery to repair the damage and came home in a wheelchair. That was the beginning of the end. Over the next few years, Joe had routine urinary infections and kidney stones that finally forced us into catheters. I would catheterize him every four hours. He went through physical, occupational, and speech therapies at Reavis Rehabilitation in Round Rock, Texas. Joe would reach his small goals and get discharged. After short periods of time, the Ataxia progressed and he would go back into therapy. Each time he had additional issues to address. His speech got worse and his swallowing became a problem. He had a few swallowing evaluations done and each time it got worse. The fatigue was sometimes overwhelming for Joe. He lived at home with me and I took him to outings as much as possible. He loved baseball, UT football and hockey. He had to give up playing his drums that he bought with his graduation money.

On December 6, 2007, he had a feeding tube placed in his belly. The risk of choking was too high. Joe didn’t like it at all. No more pizza, cookies, or anything else good. Liquid wasn’t even good. In January 2008, two weeks after celebrating his step-mom’s birthday, Joe became very sick and was taken by paramedics to the hospital. After two days, they put him in ICU and advised us to think about making a decision in the event they had to act quickly. It was like a truck ran us over! Now we are talking death? We were not ready for that at all! Well, Joe got better and came home; however, he was not our Joe. He stared up at the ceiling and didn’t seem to understand everything we said to him. He didn’t smile anymore and was in horrible, horrible pain! You couldn’t touch him without him screaming! All of this went on and on and on. Eight hospital visits (all ICU), more kidney stones, more UTI’s, two major blood infections and just sick all of the time. He was so skinny and all of his muscles were wasting away. He developed a skin breakdown with a sore deep into his little body. We battled that along with all the illnesses over the months.

Finally, in October 2008, we decided to put him on Hospice. It was morphine, ativan, and valium - whatever would help. He cried out constantly in pain. He would scream when I bed bathed him. The touch of a sheet hurt him! We may have seen four smiles all year. This was a person who never ever stopped smiling before! He, on his own, passed about 26 small kidney stones. We kept them to show the doctor. On Saturday, November 8, 2008, his tummy started to reject his food. Sunday morning when the hospice nurse came, she told me it was the beginning of the end (again). He was dying. For the next few days, the family camped out here and spent as much time with him as possible, not knowing "when". He was only taking 1-2 breaths per minute. He did this for days.

On Thursday night, due to some strange scheduling issue, Hospice didn’t have an all night nurse. So, my friend Karla came to stay with us and we would alternate giving him his meds. Around 10:30 pm, he had what appeared to be a stroke. I called Hospice and 911. I did not want him to die like that. He was shaking terribly and his eyes were rolling around. I gave him some valium and the shakes stopped. In the meantime, the family was on their way back to our house. They had all gone home for awhile. (I forgot to mention that Kinsley, Joe’s 11-month old niece, was frightened by Joe’s screams, so she didn’t like getting too close to him. But, earlier that day, I asked her to give Uncle Joe a kiss. He was calm and she did! The only kiss she ever gave him.)

We were there, waiting. He was taking one faint breath per minute. We all told him we loved him and it was okay to let go. All of a sudden, his face lit up, he smiled BIG, opened his eyes, let out a sound and when we said Kelly and Albert were here (sister and brother-in-law), he died. It was November 14, 2008 at 1:20 am, 15 days short of his 27^th birthday.

That’s our story and why I am organizing this great event for my second year on Saturday, September 25, 2010 at San Gabriel Park in Georgetown, Texas. It’s officially called International Ataxia Awareness Day. It is unfamiliar to most, but not to those affected by this horrible disease. There is currently no cure or treatment for this. Research and clinical trials are expensive! The list price for a complete Ataxia Evaluation by Athena Diagnostics, as of April 24, 2009, is $11,940. The cost for a Clinical Trial varies greatly and can be anywhere from $500,000-700,000. Therefore, we donated Joe’s brain tissue for research and hope that someday they will find a cure! This is what Joe would want. This is what I want! I don’t want anyone else to go through this. The only for us to make progress with this is to raise awareness and money for research. Please join me and Joe’s family and friends to help us fight the fight!

"Raising the level of ataxia awareness and funds to support vital ataxia research is the key in giving researchers the tools to find more answers to stop ataxia."