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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23 thoughts on “The Story of Stacia and the Realization of a Dream”

  1. Thank you so much, Susan, for all the hard work you and that wonderful group of parents did which has now helped so many of us to deal with this condition. My heart goes out to you in the loss of Stacia, a truly beautiful woman!

  2. I found your story very sad and even cried. Your daughter was so beautiful and your story of when she was small with the infantile seizures etc is not far from my experiences with my daughter. Like you I have the most beautiful daughter with a lovely smile on her face. She too has taught me a lot, don’t get me wrong she is by no means perfect and has her moments. She is almost 19 and has autism, learning difficulties, her seizures are not controlled and she also has tumours in her brain and a sega, along with AMLS in her kidneys and liver and tumours in her eyes. She is just starting to enjoy life, socialising, work experience and is starting college in September. She is taking sirolimus which has so far shrunk the sega, stopped the AML’s growing and I have not doubts that without this she may have also died from the sega tumour. I am so grateful to mums like you who have paved the way for the awareness and then the research to happen. So thank you so much and I just wished your daughter could have had the same opportunities of the knowledge experts have now.

  3. You’re experience is so close to our family, my daughter is 23 and so fortunate to use Afinitor to treat Kidney Tubers. Thank you for starting TSC alliance

  4. I’m so sorry for the loss of your beautiful daughter. You are an incredible woman and mother! An amazing story of what huge accomplishments can happen starting with just one determined and loving mother!

  5. Thank you. From the bottom of my heart. Without your determination and drive to make a difference in the lives of those w/ TSC, we wouldn’t have the amazing organization that we do today. The first phone call that I made when my son was diagnosed at about 4 weeks old was to the TS Alliance. Thank you for all you did, for sharing your story and for sharing pictures of your beautiful Stacia. Sending healing thoughts your way for a complete recovery.

  6. My family can’t thank you enough for your hard work, determination, and perseverance that created what is now the TSA! It is because of you and your peers that those of us newly diagnosed have reliable sources of information to turn to when looking for answers. Answers to millions of questions that the TSA can help us with and more importantly give us hope for the future. It is where my family turned when our daughter Anna was diagnosed at 7 months and it is where thousands more will turn in their time of need. Stacia has helped to create this legacy that will help so many in the future and continue to give hope in times of despair! Thank you, thank you, thank you!!

  7. Wow, I could have been writing that story it sounded so familiar. Mine was a couple of decades later. I was told I was a first time worry wart mother. My son was “stressed” at 10months. A military nurse stood in front of 4 military doctors and said this child is seizuring. They said no he is not. I wish she had push the issue because he would go 2 more years that way. He is now 23 he has a younger brother 21 with TSC as well. I have relied heavily on TSA. Thank you for all you did.

  8. I can’t thank you and the others enough… Without the TSC community I’m not sure how I could handle all of the info. Thank you so much for all of your hardwork!!

  9. Susan is my aunt. I was 6 or 7 when Stacia was diagnosed. It is one of my major childhood memories…the whole family so upset about beautiful baby Stacia. I grew up spending time every summer with this wonderful family. I learned not to be afraid of special needs people. I learned how wonderful and funny (and difficult) someone with TSC can be. I loved my cousin Stacia very much. Now that I am a mother of four healthy children, I respect and admire all that Susan did for Stacia and other families dealing with TSC. The world is a better place because of Susan and Stacia!

  10. I adore you, Susan! Thank you for being our beacon of light on the journey we never asked for…the one us TSC parents must walk. How blessed I am to know you, and how blessed Stacia was to have you as her mom. xoxo

  11. Susan is my dear younger sister. Her contribution to this world has so inspired me, along with so many others…There are no words to express, no way to count the ways she and Stacia taught us to live and love more fully, even as our hearts ached for all that they were going through, and we so often felt powerless to help. When one considers all the choices Susan might have made differently, all the times she might have buckled under the load she carried, or turned away from the impossibly difficult challenges…it seems a miracle that she has accomplished so much. Stacia was surrounded with so much love, and had so many opportunities to live her short life full of “normal” experiences she might have been deprived of…and along with it all Susan was outstanding in her career as a teacher, and always a loving and supportive sister, daughter, aunt, mother to her other children, and friend to many. That TSC will live on after her, in good hands, is surely the best thank-you for her sterling legacy!

  12. Thank you so much for starting NTSA. My daughter, Jill, was diagnosed at 4 months in 1979. She received the same prognosis as Stacia. Jill did not have infantile spasms but did have left sided partial tonic clonic seizures. We were able to control them until she was 13 months when she had a fever of 106 degrees & a major seizure that wiped out all the gains she had made. She had been talking and walking but was like a rag doll after the seizure. It took her three days to walk again and she did not talk until she was three years. Jill’s seizures have been controlled for most of her life but when she does have them, they are status and need medical intervention. Jill has all of the signs & symptoms of TSC, and they interfere with her life. Right now she is struggling more with mental illness than cognitive issues but all are related. Jill has been participating in the kidney drug study but has not had good results in her kidneys but has shown 50% decrease in her brain tumors
    . Thank you again and I give you my most sincere condolences on the loss of you very special daughter.

  13. So beautifully written. Yes you were given Stacia for a reason – to challenge you to be the best mom and teacher, and please always remember the hundreds of students you inspired to become teachers just like you, as well as those of us who you inspired to become special education teachers. My first experience with a special needs child was through meeting Stacia and your family. Next came my first experience working special Olympics which you brought to our high school. Fast forward 25 years, and now in my career I have been named Teacher of the Year for my school district, as well as volunteer at Southern California Special Olympics for the last 7 years. You have passed on your expertise and now we can make a difference in hundreds of lives throughout our teaching careers.

  14. You and your angel have saved so many lives literally and saved other lives from heartache that lack of knowledge causes. Because of you and the original parent alliance, my son was diagnosed soon after having his first seizures at 5 years old and solved a 40 year old mystery that same year (17 years ago now) about my sister’s condition. We he was diagnosed all I could find was a 1969 medical book that put the prognosis at life expectancy of 10 years. After the shock wore off, I realized that my sister was in her 40s so the book had to be wrong. My doctor at the time was a seizure specialist and sent me to what is now the TS Alliance-saving my sanity and provided me a lifeline of hope that I will always be grateful for. God bless you and all those that came before us. YOU ARE OUR HEROES!!!!!

  15. I am very thankful for all the hard work you put in forming the TSA. It is always amazing to see people reaching out while they themselves are going through so much. TSA has been the most valuable resource for me to get my daughter the best care possible and I don’t know where we would be without it.

    1. Thanks SaRah.
      Im amazed at how much TSA has accomplished. It gives me hope that others are finding help and research new treatments

  16. My dearest,
    Your story really touched me deeply for my daughter Natasha is now 32. She’s been successfuly intervened twice at neuro surgery to a Sega however, both her kidneys are riddled with angiomiolipomas, two of which, in serious danger of bleeding. We live, one day at a time… She’s got a certain autonomy and manages to go to work four times a week which is good. She’s lucky in the sense that epilepsy doesn’t occur constantly. Although with a learning disability, finds herself useful to society and she enjoys that very much.
    You’re a true inspiration and a pioneer in search of answers for this awful genetic lottery! It’s like being punched in the stomach when diagnosed, but through your sheer determination, it makes it all so much easier to bear! Will always admire your tenacity!
    My deepest gratitude to all that you’ve done so that TSA could become recognized worldwide! ❤

    1. Thank you Milay. It still helps to hear my efforts and her life helped someone. I miss her every day and she changed my life in profound ways. Bless your daughter and i hope for the best outcome for her. 🙂 tenacity and sheer determination to make things right is sometimes all i have and we as parents have to fight what is unbearable still

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