I’m taking a break today from the Blogging for TSC Awareness project. Thank you so much to everyone who has sent something in the last few days. I promise they will be posted soon.
Yesterday we all received the shocking news of Dee’s passing. Even knowing how serious her diagnosis of stage 4 lung cancer was, I still never dreamed it would happen so quickly. I had told her I’d bring dinner as soon as we got rid of the sicknesses that have been circulating our house for the last month and half. I never made it.
Dee was an incredible advocate for TSC and her daughter Ashley, even taking a position at the TS Alliance, though she was able to stay here in Georgia.
She had a great sense of humor, even in the face of cancer and chemotherapy.
It was just March that we were in DC for the March on the Hill and she felt bad she couldn’t make it to the offices with us because of the back pain; the cause was not yet diagnosed. She was fretting over the fact that she had a formal event coming up and she would have to wear flats. “I can’t wear flats to a formal event! I love my heels!”
Dee, I hope you are wearing the most stylish, glittery 4.5-inch heels anyone ever saw.
We still have a child named Connor, in case my lack of blogging made you think he had packed up and run off to Borneo as revenge for us regulating his iPad time.
Let’s back up to February when we heard a loud thump followed by crying from his room. We ran in to discover that we had a Defcon 1 situation and Connor had escaped the crib. He wasn’t so much hurt as I think he was surprised by the floor, so he transitioned to the toddler bed that week. I did not expect it to go well. We moved more toys into the room, added a gate to the door and removed all potentially dangerous and/or greasy objects from his drawers. The first night he cried and yelled for two hours and I had to rock him to sleep. Not because of the bed, but because baby gates have always inspired great rage in him.
But after that, piece of cake. He would actually get in bed and stay there. I was shocked. I had expected him to trash the room and pass out in various spots on the floor. Instead, he stays in bed until light begins to peek through in the morning, and then he’ll either go play or drag objects into bed with him. In the beginning I’d find him passed out in a sea of pants and diapers he’d dragged from the drawers (yeah, no idea) but he has since graduated to his puzzles and trucks. The transition has been incredibly easy as long as he has his Pillow Pet dog to shine on the ceiling.
March was probably the busiest month we’ve ever had.
Chris and I joined other TS Alliance volunteers from around the country again this year to meet with our congressional representatives and senators on behalf of our state. I’m excited to say that the Alliance got the most signatures ever in support of the Tuberous Sclerosis Complex Research Program. Georgia Senator Johnny Isakson was one of the authors of the senate Dear Colleague letter, and in the House of Representatives from Georgia, both Rep. Hank Johnson and Rep. David Scott signed on in support again this year. We were fortunate that the meetings were set for Wednesday March 4 since a snowstorm blew in and shut down the government on Thursday. Despite the cold, Chris and I got a lot of sightseeing done. And I only busted my butt on the ice once.
We flew home from D.C. on a Friday, picked up Connor from my parents and flew up to Boston on Sunday morning. I had booked an early flight since this was our last trip given Connor is aging out of the TSC study and I wanted to make the most of the day. I was not aware at the time of booking that we would be losing an hour of sleep thanks to Daylight Savings. We boarded our 7:30 flight, took off, and landed right back in Atlanta 10 minutes later due to an issue with the landing gear. I was tired and disinterested in dragging a sleeping toddler off the plane so my thought was, if we gotta land on it, let’s just do it in Boston. If it meant spending the day in the airport waiting for a flight we weren’t going, but crazily enough Delta had a plane ready immediately so off we went. Boston was still covered in several feet of snow from the big storms the previous month. Roads and sidewalks were cleared, but space was tight with the mountains of dirty snow and abandoned cups on each side of the sidewalks (because apparently trash melts too when thrown in a snowbank).
While we were there we scheduled Connor’s annual scans. He had a brain MRI and an ultrasound (the recently updated protocol recommends an MRI of everything, but I just couldn’t seem to get someone on the phone that would make that happen this time). Since kidney involvement is common, we prepared ourselves for the possibility that Connor would have some sort of involvement by now, even though his previous scans at birth and six months were clear. When the tech came back to take additional photos after showing the initial pictures to the doctor we were pretty sure we were right. Connor does now have signs of TSC in his kidneys–innumerable minuscule angiomyolipomas. They are not problematic or affecting his kidney function, so we will just continue to monitor for growth. Hopefully they will not ever require intervention.
Weirdly, though I prepared myself for changes in the kidneys, I did not expect any change in the brain. There is no rational reason for that, I just didn’t. Turns out that one of his SENs in the ventricle has grown from 5mm to 7mm. It does not require intervention at this time, but the doctor recommended a followup in six months to be safe, rather than waiting the usual year.
So, not the best news, but certainly not the worst, or anything too crazy for TSC.
My crowning achievement of the trip was while Connor was having his MRI. I fell asleep in the waiting room, and awoke to the nurse telling us we could come back and see him. I jumped up in a half-asleep state of confusion not realizing my leg was completely asleep. I mean absolutely 100 percent numb and unfunctional. I crashed to the floor drawing a gasp of horror from an onlooker. I tried to get up, but couldn’t. My leg could not support any weight whatsoever. I looked really cool, but seemed unhurt…until we flew home that night. Then began the first of several days of my ankle looking like this:
But I must reiterate — I looked really cool.
Katie Beckett and IEP
Upon return I dealt with the immediate turnaround of Connor’s Katie Beckett renewal paperwork. They give you like a whopping two weeks to get it done, plus it came while we were out of town and was due when we would be gone again. Thankfully, we had an easy renewal this year (assuming we get re-approved), requiring only some basic forms and not the common 10,000 pages of therapy notes.
Then we had Connor’s first IEP meeting since he’s aging out of Babies Can’t Wait. He will begin at the special needs preschool in April, attending Monday through Friday from 8 until 12. It went pretty well. Their goals were well in line with what we were looking for. He will receive 45 minutes of OT, 45 of PT and 60 of speech a week. Plus he will continue with private speech, OT, music and aquatic.
Connor’s 3rd Birthday Party
We celebrated Connor’s construction-themed birthday a week early since we needed to be out of town for a wedding on his actual birthday. He was very accommodating in that he doesn’t know what date it is anyway and never has objections to being given trucks on any given day. Rosie the dog donned her construction gear and I even tried my hand at amateur cake making:
A few days later Connor went to my parents and we went to Antigua, Guatemala to round out a whirlwind month…but that’s my next post. Stay tuned so I can get all Rick Steves on you.
Second Annual “Blogging for TSC Awareness Month” Day 32
by guest blogger Susan McBrine (Oregon)
Words a parent never wants to hear… Or expects to hear. Yet every day, all over the world, parents are still getting this diagnosis for their child, who may be experiencing seizures, developmental delay, autism, kidney and brain tumors and more .
I got this diagnosis for my daughter over 40 years ago and I must say it changed my life forever. I became an informed, determined, assertive researcher, educator and advocate for making sure that I knew and found all there was to know and do to help her achieve her potential. In the process I helped found Tuberous Sclerosis Alliance and tried to help many other famiilies find hope for better treatments and a better life for their children with this disease .
This year we celebrate 40 years of TS Alliance’s existence. The organization has acomplished so much by advocating for and funding research, supporting families and much more. We celebrate, but I am also saddened that many other young moms are also still going through what I did to get treatment and diagnosis. I am saddened that tuberous sclerosis exists. Yet, as a mom who has raised a child to adulthood and lost her child to this disease, I am grateful for what tuberous sclerosis taught me about life, love and even her death.
Being a parent of a special needs child is life changing in so many ways, but in my case it changed my career and my perspective on life in general. It made me appreciate little things and focus on what is really important in life.
It also taught me valuable lessons on letting go of a child as she grew. I learned to finally let go and let my disabled daughter have more of life of her own, despite her disabilities. It is very hard, when you miss those developmental milestones that non disabled kids have — when your child goes to kindergarten, off to college, work, marriage — to know when and how much to let go and encourage independence in a child who is basically totally or semi- dependent on you. The need to protect our vulnerable child is great and the tendency to overprotect always exists.
It was hard to step back and stop doing for her and let her do for herself. Dressing herself, going on the bus alone, spending the night away from me at a camp, having a boyfriend, and finally living in a group home with friends. All things other kids may do as they grow up, but for moms like us, whose child needs supervison and support in so many ways, it is hard to let go even a little.
Letting go and teaching independence is important so that we don’t actually encourage dependence without realizing it.
Teaching age appropriate behavior to a 20-year old who would just as soon wear Mickey Mouse t-shirts and play with toys, that she is a young adult and must dress and be treated as a young adult is hard. I learned how, with help from many in her life, and from her.
I also was pleasantly surprised by how well she adapted to life in a group home at age 27. I thought she’d miss me so much I’d have to bring her home in a week. Nope! She flourished with her newfound independence and social life with her housemates — something I couldn’t give her at home with just the two of us. I also couldn’t continue to give her 24-hour care while I had to work and sleep. She got fresh caretakers every eight hours who weren’t tired, cranky or had other things to do.
What is hard for parents to admit as we get older (and we will) — the 24-hour care taking can be too hard without help. And the time will come when we can’t do it any more due to our age or illness.
We have to really be realistic about helping our child find a place in the world as an adult without us while we are still around to help them transition. It’s harder if we die and they experience the grief of missing us and have to transition to a new home. That is the letting go and the transition we all worry about the most. We worry no one else will care for her or him as we do.
As a special education teacher of young adults 16 -22, I often heard parents say, “She can’t or won’t do that at home. How did you get her to do that?” Some of my students had very low ability, but were able to work with some support and could learn to do things like cook, load dishwashers and do laundry for themselves. Things their parents didn’t let them do because they thought they couldn’t. It’s always amazing what they can do when we let go. I learned that my very delayed and disabled daughter could do so much more than I ever thought or would have allowed her to do until I learned to let go some!
Every child is different and every state and family has different resources available, but it is something to think about for every parent.
Teaching independence and letting go is something to do gradually. After all, we all want all of our children to be happy, have a social life of some kind, to experience love and friendship, and to be able to support themselves in some way. They can’t do that if we dont teach independence and responsibility to all our children.
Stacia taught me much in life. Tolerance, patience, unconditional love, selflessness and how to see the world through her eyes. Her life was a gift to me in so many ways, although battling her disease was also hell in so many ways.
I am grateful for the support the TS Alliance gives parents today, and for the hope that all our children with disabilities will have better lives to live and increased opportunities to do so in today’s world. We can all help them by increasing awareness of not only TSC, but of all those with disabilities and their need for acceptance, employment, education and a place in society.
From Becky (Mixed Up Mommy): Thank you so much to everyone who contributed this year! It has been a pleasure to share your stories and read your personal or your child’s triumphs. I leave you with some artistic contributions from TSC warriors.
Being a mom is the hardest job any woman ever has. No one prepares you totally for the complete neediness of a baby, or the way you suddenly know for the rest of your life you will love this baby with a love you didn’t know you even knew how to give.
You are in awe of this feeling and overcome with joy every morning when you stagger sleepily into your baby’s room and see her tiny face light up when she sees you.
No one can prepare you for the absolute wave of grief that hits you, however, when a few months later, a strange doctor tells you that baby has tuberous sclerosis .
The baby you envisioned watching graduate from school, get married, become an adult… All those dreams of normalcy seem to vanish with two words spoken from a person you now want to slam your fist into and call a liar! You ask why, why? And you are angry, sad, and finally determined to fight this disease. You also know that nothing will change the love you feel and nothing will stop you from getting this child the medical help she needs to live a happy life.
As the years go by , perhaps you have other children, perhaps your marriage fails or gets stronger, perhaps your friends you thought you had fade away from your life because your every waking minute is consumed with caring for the child who now has brain tubers, seizures, too many medications to count, kidney tumors, behavior problems, autism and major developmental delay. Those friends have been replaced with, perhaps, other moms of a special needs children, who are the only ones who understand your devotion to this special child. The child, who despite driving you mad several times a week, is so endearing when she finally can say ” I love you ” and finally can interact and play with other children .
Your heart breaks for her every day and your heart celebrates every day at her slightest progress because it is a huge long-awaited accomplishment. You stay awake at night wondering how you will pay for her medication, whether you are being a good enough mom to your other children, a good enough wife, a good enough teacher, worker; and you worry, most of all, if your child with TSC will live, have a quality of life , a future. And what will happen to her if something happens to you?
What you don’t worry about is yourself. You’ve forgotten to worry or even think about yourself most of the time because there is no time for you. Doctors’ appointments, IEPS, hospitalizations, blood tests, therapy appointments, more doctors’ appointments, medical tests, MRIs, EEGs, sonograms, surgeries, psych evaluations, teacher conferences, trips to pharmacies …
It seems endless and every few years another body part or organ pops up with a TSC symptom and you grieve all over again for the healthy child you dreamed of and you cry for the suffering one you have now and love so much. The tears are always there just below the surface.. But so is the joy that she has defied the doomsday prognosis, the life expectancy. And she has taught your other children compassion, kindness and tolerance. You are so proud of them and grateful they are healthy and normal.
You thank God for every day she lives and beats TSC and you thank Him for making you strong enough to raise her. One day you realize she has made you a better person! But your marriage may not have survived the strain because he was never really committed or never really dealt with his grief. It’s too late to wonder why. The marriage is over. It ends when you understand he isn’t capable of standing by your side and never was.
Or your marriage and bond grows stronger, if you have the right man, because of this special child.
Your child is now an adult with, perhaps, a child’s mind, and you have spent your adult years in a career working with teens and children in regular and special education while raising your own and you realize you’ve still forgotten yourself.
You’ve spent many hours explaining to friends, relatives, doctors, teachers and strangers what tuberous sclerosis is and helping other mothers cope. And insisting to them that you are neither a saint nor a martyr for choosing to raise this child despite the many people who say,”I don’t know how you do it.” Sometimes they say that because they are secretly wondering if they could do it if it was their child. The answer is simple . You have no choice. Your child needs you.
One day you also realize that finding yourself will be the healthiest thing you can do. You meet and fall in love with a real man, just when you thought they didn’t exist (as I did) if your first marriage has failed. Eventually all your children, except your TSC child, leave home to successfully live their own lives. And then your worst fear comes true. TSC has won the battle. And in my case the following happened:
Your TSC child’s second kidney is failing after endless hospitalizations and medical complications, including a year with a feeding tube. Dialysis and transplant are considered, agonized over, and then your trusted pediatric neurologist and you make the decision that she would not tolerate either successfully, only prolonging her suffering. You can no longer care for her at home and work also, which you have to do, so you reluctantly, sadly, place her in a group home with a nursing facility where she is surprisingly happy and social for a time. Meanwhile, you continue to work and travel two hours one way to visit her on weekends when you can get there.
About a year later she is facing complete and total kidney failure and you are facing hospice care for the child you fought and battled for 30 years to keep alive. Now you realize you have to allow her to die and end the suffering…it seems impossible to bear the grief this time.
Even though you are finding happiness in life, your world is collapsing again because your baby, your first born special child is dying and you have to let her go after a lifetime of helping her to live. How does a mother endure this pain after you were chosen to learn all the lessons raising a special child has taught you? You lie awake at night wondering and greiving all over again and you ask why? Why?
There are no answers…but you know after burying this child that the hardest thing a woman can do ever is to be a mother and watch your child die.
Your other children continue to bring you great joy, pride and love in your life. You are so thankful you were able to experience the joy of raising other non-affected children to adulthood. Yet you will always grieve for your special child and miss her unconditional love, total innocence and uncanny sense of humor in spite of all her suffering.
Yet you have found yourself finally…. Because you realize you were meant to be her mother to become the person you now are. This was my TSC journey and one typical of so many other TSC moms who have made similar journeys. But their journey will be more hopeful and less lonely because of the Tuberous Sclerosis Alliance. I hope all the moms find themselves because I know we all forgot ourselves for a time. Global awareness has increased today. And there WILL be a cure.
By guest blogger Lana DenHarder (Grand Rapids, Michigan)
Brian and I had been married for four years. Like most first-time parents we were excited to be expecting a baby and equally excited to have an ultrasound to learn the gender. We had spent weeks talking about names and imagining how the child would look, wondering what personality traits they would have, if they would get my clumsiness gene or Brian’s athletic abilities.
My first ultrasound was around nine weeks to verify dates, and I had another ultrasound around 16 weeks to learn the gender. We were pleased to learn we were having a boy. Brian’s visions of teaching the baby to play ball and coaching little league were starting to become a reality. Shortly after we learned we were having a boy we decided on the name, Cole Ryan.
My prenatal visits went along as planned. I jokingly told my doctor (whom I absolutely love) that I was disappointed that we didn’t get any good pictures of Cole at the first ultrasound and maybe I needed to have another. We both laughed! As my pregnancy moved along, around 30 weeks my doctor said that Cole was measuring small and maybe it was time for another ultrasound just to make sure we had the correct dates and that there was nothing wrong. I was thrilled because that meant I would have more pictures for his baby book. The ultrasound was scheduled a week or two later at our local hospital and I met Brian there…with a full bladder, as instructed. The tech took us back to the room and we were geeked to see Cole on the monitor. We asked goofy questions and the tech quietly answered them and then told us to wait and she would be right back. That should have been our first indication something was wrong. Ten minutes, twenty minutes, she didn’t return. Brian went out to try and find someone because my bladder was still full! The tech said we needed to wait in the room. Ten more minutes had passed and the tech returned with a doctor who looked at the monitor some more. He then said to get dressed and wait in the waiting room. Brian and I looked at each other oddly because after my previous ultrasound we didn’t need to wait around.
Waiting was torture. The doctor walked in and said he had spoken with the radiologist and they found a tuber on Cole’s heart. My heart sank. Brian and I were not expecting this at all. Ten minutes ago we were joking around and now our world was falling apart. That was the first time we heard the words Tuberous Sclerosis Complex (TSC). He told us we needed to follow up with our doctor in the morning. Brian and I walked out to our cars, a million things spinning around in our heads, hugged and said we would talk when we got home. I watched Brian pull away as I sat sobbing while trying to call my mom on the phone.
Our doctor referred us to a high risk OB to assess the situation. They confirmed that it was likely that Cole would have TSC but an official diagnosis had to wait until birth. I had weekly appointments and ultrasounds. At 37 weeks the doctors believed that the tuber was blocking blood flow to the heart and they needed to get Cole out. They tried to mentally prepare us for heart surgery within hours of birth. I was induced on September 4, 2006 (Labor Day that year) and Cole was immediately taken to the NICU. After additional scans, we learned that Cole also had tubers in his brain, too many to count. The next 25 days felt like months. Most nights I would go home and quietly cry myself to sleep, hoping that Brian wouldn’t notice.
Cole was touch and go for a while but didn’t need heart surgery after all. He developed complications and one night we almost lost him. I will never forget the day he turned grey. September 13th. Looking back, at the time we didn’t realize just how sick Cole was. The day before we were supposed to take Cole home he had his first shutter spell (seizure). He left the hospital on a seizure medication.
The first couple of months were normal, or as normal as we thought they would be as first-time parents. Cole was eating well and very snuggly, however he was starting to miss typical milestones. We started Early On Therapy, and eventually physical therapy, to help strengthen his core. Cole started to have infantile spasms at 6 months and the day after his first birthday he had his first grand mal seizure. Within Cole’s first year we had tried various seizure meds and nothing worked. Our one last hope before trying ACTH was the Ketogenic Diet. Brian and I thought about it and it made sense to us. Cole wasn’t eating solid table foods yet, and he hadn’t developed a taste for bad foods that we would have to take away for the diet, so this seemed like a good time. Cole was admitted to the hospital and three days later he went home on the diet. Within a few months we noticed a reduction in his spasms and no more grand mals. He was on the diet for three years. In the end, we decided to stop the diet because he started to fall off the growth chart.
During a routine urology appointment, after the doctor preformed an ultrasound, he had to tell us that multiple tubers had started to grow on both of Cole’s kidneys. Cole was three years old. We are fortune to live in Grand Rapids, Michigan with a fantastic Children’s Hospital, Spectrum Health and DeVos Children’s Hospital. Up until this point, all of Cole’s care could be managed by various specialists locally. After learning of the kidney tubers, we contacted the Tuberous Sclerosis Alliance and asked for recommendations for a nephrologist. That is when we found Dr. Bissler at Cincinnati Children’s Hospital. We spoke with Dr. Bissler over the phone and made an appointment to get a second option on a care plan. Dr. Bissler was fantastic. He took the time to talk to us and make sure we understood all of the options. We agreed with Dr. Bissler and decided to move forward with kidney surgery to embolize the largest tubers. They were the size of golf balls. During Cole’s six month post op visit with Dr. Bissler, we discussed the benefits of Afinitor for Cole’s kidneys and SEGA. Dr. Bissler had also introduced us to Dr. Franz. Dr. Bissler discussed Cole’s history with Dr. Franz, and they both agreed that Cole could benefit from Afinitor. He started it in February 2011. We have noticed many positive changes in Cole, in addition to the kidney tubers shrinking and a slight decrease of the size of the SEGA.
In addition to the heart and kidney tubers, Cole has tubers on his eye and skin lesions.
Cole is considered globally delayed and is on the autism spectrum. He started attending a special needs preschool when he was two. Watching the bus drive away with my son was scary, but I realize that was one of the best decisions we have made. Cole’s development slowly improved. He learned to crawl when he was 2 1/2, walk when he was 3 ½ years old and his speech continues to improve. Today, he has close to 60 words and phrases. He currently attends a special needs school where he has fabulous teachers and support and continues to make positive strides. I believe the Afinitor has helped him come out of the medical haze he was in and is allowing him to move forward with his development. We have noticed the biggest change in him in the last two years since starting Afinitor. He is making intentional eye contact, attempting to repeat new words, initiating play, self feeding, and demonstrating appropriate responses when asked to do simple tasks.
We often hear people comment and ask how we do it. There are definitely challenges to raising Cole, but he was our first child and we don’t know any different. In our minds, this is normal. We also have a three-year-old daughter, Lauren. Brian and I were tested and we do not have the TS gene. Lauren does not exhibit any characteristics of TS so we decided not to have her tested. Our lives are full of doctors’ appointments, therapy sessions, sleepless nights, stress, worry and wonder. Cole has closed the gap on his physical challenges (walking) and now we struggle with behavioral (biting and scratching) and emotional issues. In spite of these challenges, Cole is a lovable, happy, determined 6 ½ year old little boy who loves to snuggle, sing (in his own way), spin balls, ride his bike, swing and run around the backyard. He is on three different seizures meds and is seizure free. It is difficult to look too far in to the future because we never know what will happen, but I can say that things are starting to calm down and feel a little normal.
Cole’s care continues to be managed locally and with the Cincinnati TS Clinic. We are very fortunate that Brian’s and my family live close and are willing to help with whatever we need. We definitely couldn’t do this alone. Cole is such a joy and we are very blessed to be his parents.
My first child of four was born in 1971 . She lived until 2003, 32 short years. She was a joy, a beautiful baby , and I was a young 23-year-old teacher.When she was about eight months, she started crying for no reason. Then she seemed to stop smiling and rolling over, and later she started jerking her head down in a series of movements. Frantic trips to doctors’ offices found nothing wrong. I was an “overly concerned mom,” and ” it was nothing” I was told. The few funny white spots I noticed at three weeks, were also “nothing,” and the fact that she didn’t lift her chest or head up from lying on her stomach was “weak shoulder muscles.” Every doctor I saw dismissed my concerns. I wanted to believe it was nothing, but in my gut I knew something was wrong! Moms always do!
Finally, one day, she had eight separate instances of jerking her head and body in a series. I was alone with her and decided I was not going to take no for an answer any more. I drove to the emergency room and, probably hysterically, told the doctor there that I wasn’t leaving until someone told me what was wrong with my baby! Weirdly enough, the emergency room doctor was moonlighting from local AFB and had a patient, 12 years old, with TSC. He recognized the white spots and my description of the infantile spasms she was having.
He bluntly told me she had TSC and would be handicapped… Would not walk or talk and not live if her seizures weren’t controlled. I cried all the way home.
My world stopped! Life as I knew it changed forever. He turned out to be right about one thing. It was TSC! And after finally seeing a pediatric neurologist at Loma Linda Hospital who confirmed it, (MRI was not yet developed until two years later), and hospitalizing her for invasive brain tests, we had to accept her diagnosis and the gloomy prognosis they gave us.
I was told so many things that proved to be wrong. How rare it was, life expectancy, IQ expectancy, etc. And that there was no definitive genetic or diagnostic test available. And that really there was not one damn answer to any question. Now I know to question, to not believe predictions, to do my research, to develop a tough skin, and to be assertive. Doctors aren’t God. But she taught me all that in time. I took her home, loved her and wondered how I would ever survive her predicted, imminent death, as we struggled to control her seizures, first with meds, and then with ATCH shots. Welcome to the world of medication, seizures, hospitalizations, fears, tears, more tears and special education. That was my new reality. I started to research tuberous sclerosis in many libraries, poured over medical journals, medical books, books on retardation, and epilepsy only to discover what was written about TS was minimal (no internet). The disease was considered very rare, and no real research or awareness had occurred in over 100 years since it was named Bourneville’s disease. No wonder doctors didn’t know much about it. Not much was known period!
I was starting to get angry now, and when I read in the American Association of Mental Deficiency book that the life expectancy was 25 years, I knew then that no one really knew diddly squat! My pediatric neurologist was advocating institutionalization and no one had real information. I became empowered with my anger about no answers and no knowledge. I was a teacher, a reader, and yet I couldn’t find answers. Maddening! I refused to believe there was no hope! By now, she was almost two and I was expecting my second child, Tanya, after a geneticist told us Stacia was a random mutation. My older sister told me about preschool programs for special needs kids and about a magazine called Exceptional Parent. I wrote to it, asking for other parents with TS children to contact me. I thought if there were others out there, we could unite and make our voices heard. We could demand research, a genetic test, and treatments. Support could happen! I dreamed it all!
In two weeks I got 15 letters from all over the USA. Three from California. And one from a mom of a 29 -year-old with TS ,who thought she was the only case in the world. Clearly no one had ever tried to find out how many cases there were (again, no internet yet). To make a long story shorter, I found Adrianne Cohen, Verna and Bill Morris, and Debbie Castruita in California.
We started to meet and plan, write letters, call moms, have meetings and contact doctors. We created a newsletter (run off on a school mimeo machine) and a medical research survey. Adrianne helped us get our first grant, a lawyer friend helped us incorporate as a non-profit and NTSA was born.We knew if we were determined enough we could make a difference. We talked to regional centers, hospitals, child neurologist associations, and put articles in magazines and newspapers. We also hoped for a celebrity to endorse us. We lived and worked on NTSA for years. Then slowly let go and let others take it over when it became a successful reality. Now the Tuberous Sclerosis Alliance!
It spread and now it is international. I no longer have to write letters of hope to other moms from my kitchen.
We have a staff, TSC clinics, a medical advisory board, genetics test, research, a magazine, a bonafide celebrity (Julianne Moore), fundraising, and chapters all over the world. Tuberous sclerosis is no longer an unheard of disease and there is hope for no mother to go through what I did. It is miraculous really. But we still have the disease TSC…. and we still have heartache and families looking for help and hope. Now we have Facebook, the internet, this blog, and a phone call or email to the TS Alliance for immediate help and hope. My dream has come true.
Along the way I had four children, got a divorce, remarried, became a special education teacher and struggled every day to raise my TSC child, Stacia Diaz, and battle her ever growing list of symptoms. She turned out to be severely involved, mentally about three years old, brain tumors, kidney tumors, sleep , appetite problems, autism, and aggressive behaviors. She was verbal at eight and was able to say I love you (and cuss:). She was funny, happy, and taught me and my other children so much. But she also suffered, and we suffered…
And when I look back on the day she was diagnosed and remember the stages of grief I went through to come to acceptance (to learn to love her for who she was, not who I hoped
she’d be), I remember how it was a long and difficult journey. The grief never really ends. Yet today parents have support!
The end, for her, was the hardest. We watched her die in a hospice, after her second remaining and only kidney was so full of tumors that nothing could be done. She could not tolerate dialysis and a transplant. The heartache never really goes away, and I miss her every day, but I’m glad she’s not suffering anymore. I know today the newer kidney drugs might have saved her. But knowing the TS Alliance is making strides in treating TSC kids gives her life…and her death, meaning. Maybe I was her mom for a reason? No parent should bury a child, but even her death made me a better person. She and TSC taught me many life lessons.
I now have Cll leukemia and am doing very well with my own medical battle. But I know Stacia’s courage, her smile through all of her battles with TSC, and seeing her still smiling when she died gives me courage and allows for no self pity. I just want each mom and dad and individual with TSC to know that, though it isn’t fair to have this disease, you CAN, as one person, make a difference in the fight to cure this disease!!!! We moms who started this organization believed that!
It is a battle we are winning. Things are better. There is hope. There is help. You aren’t alone! And every case of TSC is unique.
I’m so grateful for the work alliance members and staff do daily. I feel so fortunate to see a dream become reality. I hope my story helps someone today who reads it. And I hope Stacia is smiling down on all of us!
Living in Atlanta, loving travel and watching my son kick tuberous sclerosis complex's butt.