The Race against Time: Living with your child’s life-shortening disease

 

Santa Clara residents, Brenda and Bart Rupel, thought that the worst had already happened in their family when their youngest child, Katie, was diagnosed with kidney disease and had to undergo major surgery at the age of 7. When their son, Matt, started to have difficulty with fine and large motor skills they didn’t know what to think.  For nearly three years, Matt went through test after test and diagnosis after diagnosis before genetic tests finally confirmed that he had Friedreich’s Ataxia, a life-shortening disease that causes progressive damage to the nerves and muscles, resulting in symptoms ranging from severe muscle weakness (ataxia) and speech problems to aggressive curvature of the spine (scoliosis) to serious heart problems (hypertrophic cardiomyopathy).

 

When the diagnosis came in, Brenda had just come home from major stomach surgery herself, but from that moment on if she’d been in pain, it was over.  She was in fight mode for her son’s life.  “I was only two days out of the hospital,” she says, “and I had enough adrenalin for a thousand people.  When the diagnosis came in, that was it – my focus was redirected.  I must have spent at least ten hours a day for two weeks online and on the phone, researching and talking to doctors.” Bart remembers that, “Brenda went into action mode, and it felt as if the only thing I could do was go to work because financially we just had to get through this.”

 

Almost immediately, they attended their first National Ataxia Foundation conference in San Diego.  In their first “Birds of a Feather” meeting, someone brought up the high rate of divorce for families in their situation. The facilitator asked everyone in the room who was divorced to raise their hand and most hands went up.

 

While Brenda and Bart feel secure in their marriage, it was still sobering to see how vulnerable couples are when they are fighting for their children’s lives. In many cases, only one parent became the activist in the family. One way that Brenda and Bart have been able to remain a strong team is by both of them becoming very active in the FA community. Each year they throw the FAITH Event—Friedreich’s Ataxia in the Heart—to raise much needed funds for FA research (this year’s is on February 10^th), and Bart and Brenda alternate who is the committee chair for that event. Bart is also Director of Grant Review on the Seek a Miracle/Muscular Dystrophy Association Board (FA is one of the 43 neuromuscular diseases covered by MDA). In addition, he is on the board of the Sunset on Friedriech’s Ataxia (SOFA) committee, which hosts a fundraiser in the East Bay every August.

 

They quickly learned that even though Matt’s doctors were amazing and genuinely cared, with a rare disease like FA, those doctors couldn’t know everything.  For Matt, it was critical that Bart and Brenda stay up on the latest research. They also learned that the biggest challenge in dealing with a teen suffering from a life-shortening disease was that they were dealing with a teen. “He’s a teenager,” Brenda says, “and he’s supposed to be a teenager, it’s normal for him to want to do certain things and act a certain way, and yet we have to say ‘we’re really sorry, we’re asking you to be more of an adult.’ That’s where we clash a bit.” Bart concurs. “Teenagers are immortal, which is why they die in car accidents and other accidents, why they take foolish risks. Matt is a normal teenager who would normally be like that, and now we’re asking him to act more like an adult and take his medicine responsibly.” For Matt, “It gets more and more repulsive to take the pills each day.”  He takes about 21 pills a day.

 

“It would be so much easier if I could take the drugs,” Brenda says, laughing. “It’s just really hard having a sick child.  You don’t expect it, and then it happens, and you’re going, ‘pinch me,’ this isn’t happening.” This year was especially hard for Brenda. “I think that, eventually, it just catches up with you.  The whole experience of what it means or could mean or what it might now mean; it just wears on you. This was my obsessive year.”

 

For the most part, though, the Rupels remain philosophical about what Matt and their family is going through.  They are the first to say that there are other families going through much worse, and there are other diseases that are worse. “We never know what life is going to bring us,” Bart says. “We may find a cure for Matt, and then he may drive a motorcycle too fast, get in an accident, break his neck, and end up in a wheelchair anyway. It’s definitely not good that he has this disease. However, he’s walking, he’s talking; he’s doing pretty darned good for having the disease. The research looks very promising, and it’s highly likely that we will have a viable treatment before he would end up in a wheelchair.  I’m pretty optimistic.”

 

Both Brenda and Bart are more afraid for the young adults who are further along than Matt.  “It’s not just about Matt. We’ve met a lot of courageous kids.  Losing one of those would be like losing Matt. It’s not OK for them to die. They’re all our kids. We want them all to survive.”

 

It’s a race against time to find a cure.  “Time is the enemy here,” Brenda says. “We just have to push along the research.”

 

Next week: Katie Rupel’s story—Living with your sibling’s life-shortening disease…

 

For more information on Friedreich’s Ataxia, the FAITH Event on February 10^th, and how you can help find a cure, e-mail Heather Ripley at MDA’s Mission Counties Chapter office: hripley@mdausa.com or call her at (408) 423-9345. Please mention FAITH.