Living With An Invisible Disease: TSC
Life. At first, it's filled with darkness, for we begin in the womb of our mother - each and every one of us. We are unaware of who the mother is that's decided to take on the responsibility of caring for our every need, from the time we take our first breath until the day we leave the nest and beyond. Honestly, though, is a mother's work truly ever done? No. It isn't. The bond between mother and child is fierce and cannot be broken, by anyone or anything - ever.
We begin by learning all the nooks and crannies of their teeny tiny bodies when they were babies, changing diapers in the middle of the night. We mothers fight for our children, protecting them from harm's way. We hold them tight when they feel sick or have fallen off their bicycle. We have wiped many a tear from our child's face when a friend has been less than kind. As kids naturally evolve, they separate from their parents a bit, developing their own sense of style and approach to life, but there's always the unbroken connection. With the baby clothes tucked away, the memories of their childhood are preserved on the wall in frames and on on table tops. Ah, the teenage years. They are a bundle of joy for any mother, eh?
As a mother, I have embraced the seasons of my children's youth. I have three lovely children, two sons and then a daughter. Today, though, I'd like to share a story with you about my oldest son, Justin, who is 18 and graduating from high school this year. He's quite handsome, very smart, athletic, kind-hearted and an all-round good kid. We're ridiculously proud of his accomplishments. Mr. Smarty Pants has got a bright future ahead of him, moving forward with a career in pharmaceutical business. He didn't always know what he wanted to do. It came about because - as teens often do - he and I had a big blowout, telling me I single-handedly destroyed his life. Ouch, that hurt. My response, "If you think you have it so bad in this life, you're coming with me to a walk in May. I want you to see how others with your disorder are living their lives."
My son has a rare neurological disorder called Tuberous Sclerosis Complex, TSC or TS for short. We first discovered he had this disorder when he was ten. When he was in fourth grade, he'd had trouble walking on his left foot, and some nights he was in a lot of pain from what I thought was probably growing pains or possibly a bunion. But, really, how many ten year olds have bunions? I just didn't realize something was brewing underneath. We finally went to see a foot doctor, and my chin almost hit the floor when we were told there was a tumor and it required surgery.
Later that summer, while Justin was still recovering for this foot surgery, we headed to the dermatologist to get a mole looked at on his back. He's always had white patches on his legs, his adomen, and there's a patch of raised bumps on his back. I thought nothing of this and was told it was Vitiligo, a fairly common skin disorder passed along by his father. Until we met the doctor on call that fateful day, I had no idea there's a big connection between one's skin and hidden neutological pathologies. Normally, we'd seen a female doctor in the practice, but today we were greeted by Dr. Jeffrey Knispel, and he just so happened to be aware of the signs of this rare disorder, TSC, that would soon change the course of Justin's life. This patch of skin is called the Shagreen Patch.
After a thorough examination, the doctor looked worried and said he'd return in just a moment. "Okay, take your time," I told him. "We'll be here." The next thing I knew, Dr. Knispel returned with a specialist from Yale who'd just "randomly" joined the dermatology practice. Dr. Peter Heald gave a quick assessment, "Yep, yep, yep, and yep. Your son's got all the signs of a nuerological disorder called Tuberous Sclerosis."
Tuber-what???. My head was spinning, as we were literally handed a big ol' stack of pepers, probably 80-pages that outlined all the signs and symptoms of this rare disorder. All I heard was "Your son will need regular brain scans and kidney sonograms. He may suffer from seizures, and as he gets older, he may have renal failure." What a bad day that was. We left so confused and worried, and Justin was crying. He had no idea what had just hit him, but he felt like he'd been run over by a Mack truck, and so did I. Truthfully, it was all a little bit much to absorb.
We'd been thrown for a loop, for sure. This was supposed to be a routine visit, right? Where did this come from? I kept asking myself. how did the other doctor inthe practice mis-diagnoses these white patches. At the very least, I was gratfeul for the knowledge we'd been given, and we began the journey of finding specialists. thankfully, we soon were introduced to two world-renown specialists in our back yard, Dr. Francis DiMario runs clinical trials for patients with TSC up at Children's Medical Center, a short drive to Hartofrd and Farmington.
One in 6,000 babies born in the United States is born with this disorder, with about 50,000 people in the United States and one to two million people worldwide living with this rare genetic disorder that causes begnign tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. "The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability and autism. However, many people with TSC are living independent, healthy lives and enjoying challenging professions such as doctors, lawyers, educators and researchers. The incidence and severity of the various aspects of TSC can vary widely between individuals—even between identical twins." Like autism, TSC has a wide spectrum.
My son is one of the lucky ones. As far as we know, he's never had a seizure, but the day we headed to the Step Forward Walk last May, we met families who have kids who have dibilitating seizures - each and every day. Some of the children we met were in wheelchairs, with full-time around the clock care. One family, in particulr, had been torn apart by this disorder, enduring a nasty divorce and custody battle. The dad was on-hand and present for the walk, but the mom was not there; it seems has been unable couldn't handle what her daughter had to endure in this life. This sad fact broke my heart, but I have to admit: I am not sure I would have the strength to face the demands either. I return to this thought that God gives each one of us parents special tasks that we can handle, I suppose.
At four months old, this young girl had been medically induced into a coma, so that her brain would stop seizing. The doctors removed a third of her brain, and she requires 24/7 care. Her grandparents have stepped in to help raise her and her sister, as their son was deserted by his wife, leaving him with the huge responsibility of sole custody of this disabled child and her older sibling. Sadly, the mother has a relationship with the older sibling, which broke my heart. "How is it possible for a mother to play favorites and to abandon any of her children?" I kept wondering and prayed for this family that stayed together through thick and thin, despite the mom's absence.
Justin was greeted by this hands-on grandfather, who shook Justin's hand and encouraged my son. "Young man, I want you to know how incredibly blessed you are to have a full life. My granddaughter will never, ever have that chance in life.You have the opportunity to be a role model and to help many people who suffer with this rare disorder."
At our first Step Forward to Find a Cure Walk...find one in your local area!
I want you to know
how incredibly blessed
you are to have a full life."
Another gentleman - a young father - was also there that day. However, Jason was not the parent of a child with TSC. This young man was a pharmaceutical rep, and we struck up a converation with him about why he chose to enter this field. For Justin, it was great to meet someone who wanted to help humanity heal. He didn't just want to be part of a pharmaceuticl money-making mill. Jason was dedicated to improving the lives of families who are affected by TSC and other rare disorders.
When we came home that evening, Justin thanked me for taking him on this walk. He was very moved by what he had seen - children in wheelchars and boys and girls with physical, social, and emotional impairments. Justin felt very blessed that he's able to wake up each and every day, take his own shower, put on his own clothing, drive his car to school, play baseball and football, do well in his rigorous academics, and have the support of hus friends, family, and girlfriend. Some of these children will never be able to leave a group home. Others live with the frustration of not being able to comminucate their needs verbally. In the span of six hours, my oldest child realized just how fortunate he'd been in the luck of the TSC draw. It was a blessing that we'd joined these families that day.
Justin hasn't always been so appreciative of having this disorder. On the day of this big ol' fight we had last year, he came to me and we had a long, long talk. I told him that when I look at him, I see a kid who bears the weight of the world on his shoulders. It was then that he broke down in tears and told me how depressed he gets because of this disorder. He's asked humself and God, "Why me? Why didn't Brendan or Julia end up with this neurological disorder?"
We head to Children's Medical Center in Farmington each year for an MRI of the brain and a kidney sonogram. We head to Yale to see a special dermatologist, and Justin wears special medication on his face to help keep the angiofybromas to a minimum; they essentially look like like red bumps or acne, and in another year, he'll be able to have them all surgically removed. Most people don't even realize Justin has something wrong with his skin; they probablly just think he has acne. Still, this is something that has caused him embarrassment and shame.
Recently, I was asked to participate in a conference call regarding Tuberous Sclerosis. The topic that night was going to be depression. Ironically, I'd just agreeed to write an article about my son's journey with TSC and planned on highlighting how depressed he gets over having this invisible disease. That was a powerful, eye-opening night for me, one I will never forget. I learned Justin wasn't the only one with TSC who suffers from depression over the angiofybromas. These are the faces of TSC:
One man from Massachusetts bared his soul and shared the story of how he was molested by a priest when he was a freshman in high school. At that time, Bill had been playing quite a bit of hockey, and he worked in his parish alongside the priest. He had been experiencing kideny issues and was very insecure about the red bumps all over his face. When the priest made some moves on Bill, it was accepted as attention. In later years, Bill struggled with being molested and he was part of a court case to help arrest this priest who stole the innocence from 54 children in Massachusetts during his reign. Thankfully, this man has since passed away and is no longer able to harm children, but he's left scars on people like Bill. The story was told on the Hollywood screen and, ironically, it won for Best Picture this year - Spotlight.
"This film gave a voice to survivors," producer Michael Sugar said. "And this film amplifies that voice, which we hope will become a choir that will resonate all the way to the Vatican."
Lots of times, people who have TSC lead normal lives for many, many years and then they become affected by the disorder. A father in the group had been to get his haircut and took his son with him, too. The son is about 16 and has TSC. Alan, the father, grew up unaffected by his own TSC, and now two of his three children suffer with regular seizures. He said he felt so helpless watching his son have a saizure while sitting in the chair, having his hair trimmed. There was just absolutely nothing this father could do to save his son from moving into convulsions. He was sad and angr, and he told me it's hard for outsiders to relate to what he's going through as a father of kids with TSC.
The seizures can be frightening when they are coming on, and I learned that your entire body becomes paralyzed. Bill had to stop driving because he'd had two car accidents, falling unconscious at the wheel and nearly killing himself and his friend in the car. He's on disability now and walks to his job in a funeral home. He lives with his parents in the apartment above their home and is dependent on others to get him places.
One of the women in the group, Ellen, has no teeth. She spoke of falling down from all the seizures, and when she does, she breaks her bones. She's fallen so many times on her face that now she has no teeth, which is depressing to her. She says that people lok at her and think she's a homeless person and treat her like a castaway. The cognitive skills have fallen away, and she has trouble remembering her words. It makes her impatient and irritable that she's so forgetful. Overall, though, both of these adult survivors are working on staying positive, doing deep breathing, connecting with God and nature when they are feeling down.
Honestly, I had no idea that so many people who have TSC suffer from depression, but it makes sense. Sometimes the most basic tasks - the things most of us take for granted, like eating, bathing, and going to school - require unbelieveable amounts of time and energy to accomplish. For the siblings who watch their brother or sister suffer with daily seizures, they sometimes feel left out and ignored because mommy and daddy have to, obviously, attend to the physical needs of their disabled child. It can cause anxiety and jealousy within the family, for sure. Parents must both be patient with themselves, one another, and with the entire situation, for life is sometimes just not easy for those living with TSC.
It's my hope that Justin will somehow make a difference in the lives of those suffering with TSC. He already has. He'll be co-hosting a northeast conference for families with TSC, alongside his neaurolist, Dr. Francis DiMario from Children's Medical Center in Farmington. Dr. Richard Antaya from Yale will be there to speak about the current trends in removing angiofybromas from the face.
Families who attended a locat Tuberous Sclerosis Alliance
meeting in Connecticut. Justin is in the front with the glasses.
We need more research. We need more funding from the government, so we can one day unlock the cure for TSC. Thanks to folks like Julianne Moore, we're making progress, and more people are aware of this rare disorder that affects one in every 6,000 births in our country. Hopefully, people living with TSC will no longer feel invisible. Thanks to advocates who lobby on Capitol Hill for more funding and more rights for those suffering with TSC, we're getting there. It's critcal to move forward with funding to Unlock the Cure. TSC is a key, a Rosetta Stone for so many disorders. It's a linchpin disease that launches into epilepsy and autism. Thank you for taking a moment to learn a little bit more about this invisible disorder and how you can help.
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Author's Note: When I first was asked to write an article about the connection between Tuberous Sclerosis and my son's bouts with depression, I did not realize it would opne up so many doors. One door that has opened is with a new friend, "Bill", whose name has been changed to protect his identity. After publishing this article, the movie Spotlight won an Oscar for Best Picture. Bill was one of the 54 boys molested by a Catholi priest in the Massachusetts are, and I thank him for having the courage to share his personal story with me. I am grateful to all the families who have given positive feedback regarding this article. I am happy that my words may somehow help you or someone you know get through a difficult time in your life, perhaps a new diagnosis with Tuberous Sclerosis or some other invisibile disease.
Dorina Leslie is the founder of Shine the Light Project, a grassroots movement to prevent things like human trafficking, labor exploitation, and suicide through the arts, education, and awareness. She welcomes the opportunity to collaborate with artists, musicians, authors, and activists who are passionate about creating a better world in which all people are living free of exploitation. Please feel free to contact her and join in the movement. Follow along on Facebook
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