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The Story of Stacia and the Realization of a Dream

Stacia at the age of three.
Stacia at the age of three.
By guest blogger Susan McBrine
Originally from California but retiring to Oregon
Day 1 of Blogging for TSC Awareness Month

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.

And ….

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

Stacia on her last birthday.
Stacia on her last birthday.

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!

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Tonight I feel angry…

1. I’m not honest enough.

I had a blog once that was painfully blunt. It was my outlet for five years when I battled depression and anxiety. That battle actually went on for more like 10 years. Some friends stuck it out. Others found me too aggravating, and I was aggravating. But they can still go to hell. I’m good now and have been for several years. I was delightfully sarcastic and dark in that blog. Or at least I think I was, in my own little world. I didn’t tell family I had it. It’s long gone since the day a disgruntled employee at Journalspace intentionally sabotaged the server, destroying an entire online community. The one and only time I backed it up was two months prior to that fateful day. I wanted to print it once, but it was over 500 pages. Sometimes it’s hard for me to be completely open in this blog because I use it as a forum to raise awareness for Connor. This means family and family friends read it (although as I discovered tonight, my brother hasn’t been, so he can suck it. I pushed him on a cactus once as children and I’m not afraid to do it again bwa haha). As I get more comfortable, I might open up more on a personal level.

Which brings me to the fascinating world of Facebook. Feel free to unfriend me if my unending lobbying about TSC annoys you. Of course, it’s not like those people would be reading this. I have been blown away by the thoughtful, kind words from people that I haven’t seen in years, didn’t know well even then, and sometimes never even met. Especially when some of the people I spent significant amounts of time with at some point in my life have never cared to say a word to me about Connor.

2. The TSC community needs to go balls to the wall.

I’m not in the greatest mood because the last couple of days I’ve been lobbying like crazy to get votes on behalf of the Australian Tuberous Sclerosis Society. They started out well in the lead. Earlier today another group had a 30 vote lead. Now it’s over 100. I’m about sick of the lack of awareness and touting of various opportunities to get funding for TSC. Once again we are faced with a vote where we aren’t even at 2,000 flipping votes. More like 1,600. Just like the Chase Bank competition a few months ago. Yet I’m part of two online communities, one with over 2,000 TSC people and another with over 5,000. Something isn’t clicking here. I’m angry.

3. Life isn’t fair.

Yesterday, one of the children I know with TSC was rushed to the hospital in the midst of a status seizure. If you don’t know, that is a seizure that won’t stop without medical intervention. From what I hear, it can involve being pumped with so much medication to stop it that they have to be in a hospital because they would otherwise die from an overdose. Connor has never had one, but once again, on the list of increased possibilities with TSC, that is one of them. When I was teaching,I  would, from time to time, have to be trained on a medication that is inserted into the rectum to stop a seizure. I never had a student have a seizure, but I now know that drug is Diastat and that is what it is for. I used to cringe at the idea, never knowing epilepsy would be a factor in my life. Wouldn’t phase me now, though we don’t have any and I’ve never had to use it. Funny thing is that I think that the last 9 months of my life would make me a most fantastic and understanding teacher. Too bad by the time I left, teaching was 10 percent of the job. Garbage paperwork and filibuster meetings were the other 90.

But I feel bitter because this child has been through enough. He’s never been seizure free for a moment. He’s not even four and already lost a kidney. He’s been through enough. Hey, God. Feel free to cut him a break. Feel free to cut a whole lot of babies a break.

Forget TSC. Do you know how many kids out there have a health problem? You don’t. Not unless yours does. Until then, you don’t know. Forget TSC. What about all the other stuff? Once your eyes are open to one, it’s everywhere. Can you believe there is a little girl out there that was not only born with TSC, but is now battling an unrelated childhood cancer? Really? One rare disease wasn’t enough? Did you know cardiac birth defects are as common as 1 in 100? Can you believe that the physical therapist assigned to Connor has a 3-year-old granddaughter battling cancer as we speak?

People are praying everywhere.  But I’ve learned something. Prayer makes the person praying feel better. Don’t get me wrong. I love that people are praying for Connor. He’s had prayers all over the States, Colombia, India and more. Don’t stop. But it gives me this mixed feeling of bitterness and relief. Sure, I want to believe it will make a difference. But I don’t really believe it does. Some prayers get answered. Some don’t. I don’t know that I prefer to believe God is answering some and not others. I’d actually rather believe things are just happening down here. Otherwise, why do some deserve to get answers and others don’t? I’m sick of stupid prayers, too. Do I have the right to call other people’s prayers stupid? Probably not, but if children are sick and/or dying and God is helping you win a stupid ass football game or experience great weather for your fishing trip, I’m gonna be pissed. Is God the reason your wedding went beautifully? No, you got lucky. And if you think God is the reason your centerpieces didn’t wilt and drunk Uncle Jack didn’t embarrass you, you’re a moron. Good luck with the rest of your life thinking God is going to fix all your piddly marriage problems.

I don’t know how people give it all up to God and just believe it is all for a reason. I want there to be something after we die. That’s the only reason I don’t blow it off all together. But while we’re living…what is there? I don’t know.

Meeting with the Tuberous Sclerosis Alliance

Last night I attended a meeting led by Kari Luther Rosbeck, President and CEO of the TS Alliance, and Dr. Steve Roberds, Chief Scientific Officer. The Alliance is located in the D.C. area, so being able to hear directly from them about the accomplishments and goals of the organization was comforting for someone who is still pretty new to the TSC world. The difference a few years makes is incredible. So much more is known about this disease now than just a couple decades ago. It’s incredible to think that the two genes that have so far been found to cause it, as well as their function, were only identified in the 90s which lead to a genetic test to confirm the disease (research is being done to see if another gene is involved). This in turn has led to clinical trials of the mTOR inhibitors now used to treat the tumors.

Some recent studies have shown, with animal models, that these inhibitors can prevent the onset of seizures and cognitive deficits in the young, as well as treat seizures and reverse cognitive deficits in adults. I just remind myself how much change has taken place recently, and how much more is being done, when I start freaking about about the fact that we have no idea what kind of course Connor’s TSC will take. And thank you to the couple that spoke last night about how their son is a sophomore in college. It helps keep my anxiety in check.

Given the genetic nature of the disease, and the fact that the majority of the cases are spontaneous mutations, rather than passed down by family, experts feel a “cure” will be a significant challenge. However, a lot can be done in the areas of early identification and treatment. For example, if an infant is born with a diagnosis of TSC, EEGs could be done  before seizures ever start, and should anything appear abnormal, begin treatment before they experience one. Currently, infantile spasms are treated when they start, but if ways are found of identifying children that are more likely to experience these, they can be treated before they ever start. Since TSC can lead to autism and cognitive problems, if the course of how those develop can be studied it can lead to preventative measures as well. Basically, the focus is on changing the progression and manifestation of the disease.

Improvements in technology are improving the chances of early identification. Many children weren’t diagnosed until seizures started and they would have to endure them for extended periods while doctors tried to figure out what was going on (a common feature of TSC is seizures that are hard to control. Connor spent 5 whole weeks in NICU as they tried to get them to a manageable level, and we actually knew the cause). Now ultrasounds can be a tool to identify babies at risk because of the rhabdomyomas that can form in the heart. As I mentioned in an earlier post, Connor was found to have one at my 30-week ultrasound, although tuberous sclerosis was mentioned in such a vague way, that we were more focused on the possibilty of a heart defect. I’ve since read about what a strong marker of TSC those rhabdomyomas actually are. One study I found said that of 19 babies found  to have one on the ultrasound, 15 of them went on to be diagnosed with TSC. Perhaps the doctors should have pushed that possibility a little more. In our case, since the seizures started the day he was born, those two markers immediately led to diagnosis. But I wonder, had his seizures started months later, or had we not seen it, how long it would have taken to figure things out.

One of the biggest points I try to make to people is this. TSC research involves finding out what leads to tumor growth, autism, epilepsy and many other issues that also occur in the general population. It doesn’t just benefit those with TSC, but a far greater number of people. Maybe you don’t know anyone with TSC, or Connor is the only one. But you probably know someone with autism, epilepsy, learning disabilites or cancer. Tuberous sclerosis complex may not be as high profile as a lot of other causes, but it should be.