This Wednesday, Starkville resident Shane Kinard will be marching on Capitol Hill to raise awareness about the need for research funding regarding a disease which has affected him, his family and countless others.
Kinard, 43, has Tuberous Sclerosis Complex (TSC), a disease diagnosed to an estimated 50,000 people in the country, according to the National Tuberous Sclerosis Alliance, a non-profit organization founded in 1974 to help find a cure.
Tuberous sclerosis, which NTSA President and CEO Kari Luther Rosbeck said affects one in 6,000 live births and is the leading cause of epilepsy and autism, is a genetic disorder which causes tumor growth throughout the body.
“No two people are affected in exactly the same way — not even identical twins. Many people describe a lifetime of TSC as like walking through a minefield blindfolded because you never know what’s going to come next,” Rosbeck said.
NTSA Chief Scientific Officer Steven L. Roberds said there are two different versions of the disease — TSC1 and TSC2 — and the differences in ways people are affected are because of the uniqueness of each gene mutation.
“Generally mutation in genes that cause TSC1 and TSC2 can cause abnormal growth of cells and lead to tumors in the brain, kidney and lungs. Changes in cellular growth in the brain can lead to seizures, autism, spectrum disorder and learning disabilities,” Roberds said. “Some of the differences between people are because the mutations are different. Most of the mutations in TSC are novel or new mutations rather than being passed around. Because the mutation is different, the potential effect on the proteins will be different. That will lead to differences in how the cells grow and what types of cells are affected.”
Kinard’s fight for advanced research is not solely for himself; his daughter, Kristen, 24, also has TSC. She was diagnosed in 1988, Shane Kinard said, whereas he first learned he had the illness two years ago.
“When my daughter was born she was making these movements. We didn’t know what it was. My family members said she was colic but no one really knew ... We went to every doctor in town; we sat up in the emergency room. We did everything we could, and every doctor said the same thing: ‘There’s nothing wrong with this child. You two are perfectly healthy. Your child is perfectly healthy. You need to take her home and whatever she is doing is perfectly normal,’” Kinard said. “She would do these little motions where she would draw in her arms and legs and drop her head ... We went to Jackson and a doctor there ... she said she was going to do more tests but (thought she had) an idea of what (Kristen Kinard) could be having. It turned out she was having infantile spams, which is a type of seizure. They did some more tests and it came back that she had ... Tuberous sclerosis. We were devastated.”
Shane Kinard said doctors told he and his wife, Merry, that Kristen Kinard would never walk, talk, read or write and would probably not live to celebrate her eighth birthday. Despite the news, he kept consulting other doctors, including specialists at the Le Bonheur Children’s Hospital in Memphis. After continuously told there will never be a cure for the disease, he visited Wyler Children’s Hospital in Chicago, Ill., the first clinic focused on TSC in the country.
“We lived on a timeline of doing everything we could do to make our daughter as happy as she can be and teach her as much as she can with a deadline of 8 years old,” Shane Kinard said. “As she grew, she started learning. By the time she was 3 she could put two words together and had 30 words she knew.”
She soon began having seizures which eventually forced her to start over again, he said.
“After (we thought we) had it under control (symptoms returned). She was having 80 to 100 seizures a day every day. You could set your watch by it,” he said.
Once Kinard and his wife were able to get the medication necessary to stop their daughter’s rashes of infantile spasms and complex partial seizures, they restarted the process of teaching her to walk and talk. Eventually, Kinard had higher goals in mind for her.
“Through the determination of our family teaching her — and I’m going to give most of the credit to her because she wanted to live and … learn — she started learning how to walk again. She had to learn everything over including learning how to talk again … We taught her how to read when a teacher at school told us we needed to accept that she would never learn how to read. You can hear her in her room practicing in her room, giving 110 percent,” he said. “Because of the tumors in her brain she does have learning disabilities, but as of right now — thank God — her seizures are under control. She’s been through a lot, but she’s always been strong and always been a trooper.
Make no mistake about it; she teaches us more than we teach her,” he said.
In 2010, Shane Kinard had not been feeling well for years. He told his wife in confidence he thought something was wrong with him.
“I started going to the doctor and through a lot of scans they were doing they found I had a tumor. We got a second opinion and they said I had ... renal cell carcinoma. After doing some more scans, we called my daughter’s doctor because we were plugged into the medical world through her,” he said. “She said, ‘Just for curiosity, have them scan your head,’ so I had my head scanned and the doctors said it was worse than they thought because (I had) a brain tumor also.”
After more tests, he discovered he had the disease his daughter had. He said he didn’t want the possiblity of his other two children, Shane and Gracie, or other family members of having the disease to be real.
“I remember thinking ‘This is a double-edged sword because either I’ve got cancer and I’m fixing to die or I’ve got Tuberous sclerosis and didn’t know it,’” he said. “I was almost wishing I had cancer so nobody else like my brother or my parents or my children would have this ... so they didn’t have to live with the possibility.”
When he learned he in fact had the disease, the brain tumor he had had grown to a point where doctors said it was so big that it required immediate attention.
“Whether it’s cancer or benign — thank God it was benign — the bad thing was it was so big and took so long to get it and I was in such pain after the surgery that I literally almost died and they didn’t get it all,” he said. “They had to scrape my kidney. They tried to save as much of my right kidney as possible because it’s going to attack it again, and the more kidney I’ve got to attack, the longer I’ll live.”
Shane Kinard also has moderate physical signs of TSC. Along with scars on his torso where the surgery on his kidney was done, he has confetti marks – changes in pigmentation – on the left side of his body, forehead plaque and lesions on his face, though he said most victims of the disease show more profound symptoms than he does.
Roberds said one of the missing links in finding a cure for TSC is the lack of understanding of how two people in the same family who share the same mutation are affected so differently.
“That’s an area of research that is important to figure out because it will help us learn a lot more about the disease process, and therefore how we might be able to treat it,” he said.
Shane and Kristen both have TSC2, which is the more severe form of the disease. He said it affects the 16th chromosome, which prohibits the ability of the mTOR (mamalian targets of rapamiacin) pathway to help regulate cell growth.
Shane Kinard said he didn’t know how to respond when he first found out he had the disease his daughter has.
“Once I found out, what do you do? You blame yourself. My daughter has got (TSC) because of me. That’s hard to live with. It’s not my fault, but as a father, you try to protect your children,” he said. “So I prayed about what I had control over and asked God to help my child and show me a way to help my child.
Now that I have this disease it gives me a whole new perspective. For a long time I wanted to lay down and just die, but then I asked myself what that was going to do my daughter. What’s that going to do for my family?”
After researching the amount of websites devoted to raising awareness about TSC, Kinard decided to start his own. Through Facebook, he started a page last year which now has nearly 1,800 followers. His is the only page devoted to the disease started and moderated by a victim.
He also contacted NTSA and asked them how he could help. Through his work and communication with Rosbeck, he eventually received the call to do what he’ll be doing this week — being the first person from Mississippi with TSC to speak with each state representative in the House of Representatives and the Senate about drumming up more research funding.
“Through my child having it, through me finding out I have it (and) through God’s plan, things are really taking off. We’re on the edge of something major happening with our disease because our disease encompasses autism, epilepsy (and) cancer, so once all these groups start coming together for a common goal ... things are going to start happening.” Kinard said. “When we go we’ll do some meetings and teach the new people how to talk to our representatives, and then we’ll talk to them and ask them to vote to help fund research for TSC. The money comes from the Defense Department. Since we’re so small it took them a lot of time to start giving, but once they have they’ve really started giving. For this year it’s over $5 million, which sounds like a lot, but if you’re trying to fight a disease it’s not a lot. We’re going this year to rally the troops and try to get money for next year.”
Rosbeck said in recent years much has been discovered about the disease, including the development of medication to mitigate the symptoms and slow tumor growth.
“Over the last decade we have learned so much after the discovery of the two known genes that cause TSC. We uncovered the genetic pathway, and that basic research led to an anti-rejection drug that was used in organ transplants. Today, we have an FDA approved treatment called SEGA (subependymal giant cell astrocytoma),” she said. “This treatment shrinks those particular types of tumors ... Hope is on the horizon. We’re very lucky our very dedicated scientists and researchers have worked so hard, but there’s so much to be done. We feel like we can get to a place where we prevent many of the manifestations of the disease (through) research we need to advocate and have funded through medical funding.”
Shane Kinard said he is looking forward to meeting other adults with the disease, hearing their stories and uniting to voice the need for more funding.
“My lesson with this disease is if you get down get back up — no matter how hard it is — and fight hard. Tuberous sclerosis is not who I am. It’s a disease I have. I’m going to fight it, and I’m going to win,” he said. “When I say I’m going to win, it may kill me, but what I do, what my daughter has done and what we’re all doing together, it won’t be forgotten. It will be learned from.”
For more information on Tuberous sclerosis complex, visit tsalliance.org. To see Kinard’s Facebook page, visit http://www.facebook.com/pages/The-Voices-of-Tuberous-Sclerosis-Together-... .