Category Archives: Tuberous Sclerosis

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

It Was More Than Just “Side Effects”

May 3, 2013 Rebecca Gaunt 3 Comments

Day 3 of Blogging for TSC Awareness Month

By guest blogger Laurie Mersberg (Round Rock, Texas)

When I was asked to share my story, I was first honored, then scared. Where to start? I guess the beginning…

I was born with the angiofibromas on my face in 1971. They had no idea; they just told my mom it was a heat rash. No big deal. Nothing to worry about. I was also born with a club finger and a double cleft palate, but no one connected the dots. I mention this because my club finger is my left middle finger and it matches my personality, strange and unique. It would come in handy growing up as I was picked on. I didn’t talk much due to my cleft palate. When I was 12, I had surgery and was on a liquid diet for a year. My jaw was wired shut for complete healing. When healing was done, I had plenty to say. I found my voice, not just physically, but metaphorically, too. Who knew I had such a sarcastic quick wit. I learned my voice and word was my weapon and club finger was like my sword, but not in any physical way. I found it usually stopped people in their tracks.

Jump ahead a few years to when I was 16. My mom came to me and said I had an appointment with a dermatologist. I was so happy these bumps were going be gone. I had such hope I was going be rid of this nightmare and be like all the other girls. This was not ever going to happen. They took a biopsy of the bumps on my face, then called us back a week later. I was ready for whatever they wanted to do. The doctor came in with a book sat down and said those words I will never forget. “You have tuberous sclerosis, but not to worry, you just have the side effects.” This doctor had no idea how wrong he was going to be. He showed me a book and said, “See, it could be worse.” It was pictures of children with Down syndrome, rashes all over, clubbed feet and cleft lips. He said, “You’re lucky, but I don’t recommend you have children because they can have a worse case.” I looked over to my mom. She had some tears. I thought it was because of the no babies most likely coming from me. She said, “I need air.” She called my dad while I waited in the car. When she got in, she said, “Well, at least you got your personality. You’re just never going be a pretty girl and you’re smart.”

I was shocked. She’d been vain, but I didn’t know it went that far. When I was little I used to ask, “Mama, am I pretty like Dee?” (my older sister). She would say, “Yes honey, you’re pretty…pretty ugly.” I didn’t know what she meant until I got older, but I did have my wit and sharp mind. I didn’t live at home. I was on my own shortly after I graduated. I had my apartment. What to do? I was tired of being an adult so I joined the United States Army. I thought, “Let them take care of me.” Remember, I was told I had only side effects, so that was good enough to get in.

I’ll skip over my military career and go to my next big hardship. I got married…well, got knocked up by my son’s dad-then we married. The army wasn’t happy. They get mad when their personnel gets a girl preggers. I was scared when I found out I was pregnant. I told my son’s dad about what the doctor said and the pictures he showed me. My son’s father was very Catholic. He believed the baby would be okay since I had just the side effect sand medicine had come so far since 1971. So I jumped in with both feet: wife and soon-to-be mother. A few days later we got a letter to go to Hawaii. We were not happy since we heard it was hard to live there on Army pay. The rumors were right. When I gave birth to my son, I had preeclampsia and toxemia. He was born one month early, but because of his size, they put full term. He was so beautiful and no sign of TSC. I was so relieved, and so was his dad. We spent three days at the hospital and then they sent us home. I had no idea everything would change in five days. My world would turn into a nightmare…

A week after I gave birth to my son, I got up to go to the restroom. I remember walking in and my left side went numb. Next thing I woke on the floor cover in urine. I cleaned myself up, woke up my son’s father, and told him what happened. He said, ”You’re over tired. Just get some rest.” Now here’s the part I totally don’t remember. My son’s father came home and he said he was banging on the door for 30 minutes. In Hawaii, there’s no A/C, so everyone keeps their windows open. All the windows were closed and locked. He could see in them and I was looking off, walking around in a circle holding my baby, but looking confused. He finally broke in. I had no idea who he was, or why I had a baby. He grabbed our son and me and we left for the hospital on post. He walked us in and told the doctor on duty, “Something is wrong with my wife. She doesn’t remember anything.” The doctor told him to take a seat. He said that I looked like I was on drugs. He told the doctor I wasn’t on drugs. The doctor told him to sit down, shut up, and he’d get to us when he could. Four hours later, a paramedic, an older man with white hair and a beard, walked by and asked my ex, “How long has she been like this?” My ex said, “Well, when I got home she was like this.” The old man asked, “How long was this?” My ex answered, “Four hours ago.” The old man got the doctor and asked if I been seen. He said, “No, she’s just another junkie army wife.” The old man said, “No, she is seizing and you’re helping to kill her! She’s in a static-epileptic state.” The doctor said, “She is not having seizures.” The paramedic told the doctor, “Since she is a civilian, I’m taking her to N.A.M.C.” It’s the big pink hospital on Oahu.

When I got there I had fever of 105, so of course they admitted me. They told my ex to go home. When he got home the phone rang and they told him to come back. When he got there they told him I was in a coma, medically induced, and to call family in case thing got worse. He was scared, confused, and not being told anything. So he made those calls not knowing what to say. I woke up four days later tied down to a bed. I was confused. The last thing I remember was peeing on myself. Why was I tied down? My ex walked in the room, looked at me, and ran out to get the nurse. A nurse and doctor came in to ask if I knew who I was and where I was. The regular neuro questions. They asked and I answered the best I could. I realized my speech was slurred. Finally I asked, “Why am I tied down?” The doctor said, “Well, when we took you out of the coma, you got combative and started swinging.” I said, “Woke from where?” They said it happened after a seizure. I said, “ I don’t have seizures.” He told me, “You do now.” Then I was off to the neurologist where he said, “You know you have tuberous sclerosis?” I said, “No, I have side effects not the actual disease.” He said, “No, there no such thing as just the side effects. You have it, and how dare you lie to the Army about your medical.” I was stunned, and he said, “Congrats, now you’re epileptic.” I said, “No I’m not.” We went back and forth, and he said, “I find it hard to believe you have never had a seizure before now.” I said, “I never have.” He called me a liar and walked out. They untied me, and I asked if I hurt anyone. Then a nurse came in with a black eye. I didn’t have to ask. I knew I did that. They explained I had a fever but they didn’t know why. After a month and a half they were still trying to find why my brain was being baked, when they realized I was having some brain damage. They were working hard to find what was going on and what woke my tuberous sclerosis. I wanted to know, too. All I could think of was that book from years ago.

One day while taking a shower, I noticed this bump in my stomach. I asked my ex to feel it. He was puzzled so he called in a nurse. She felt it and said that after giving birth, some women will have swollen lymph nodes. But she let the doctor know. Doctor after doctor all said the same thing. Finally one of the doctors I saw when I was pregnant came in to say hi. She felt bad because she felt her team missed something. We showed her the bump and her eyes grew big. She got on the phone and ordered all these tests. We asked what was going on and she said, ”I think you have an enlarged liver. If I’m wrong, we’re in trouble.” The next thing I knew, doctors and nurses were everywhere, sending me there, then saying to go here. I saw every part of N.A.M.C, more than any other patient they ever had. After all, it was a research and teaching hospital. After four days of being poked and prodded, they came in and told me what we all had been waiting for. Being there due to the seizures and high fever saved my life. They found a mass on my right kidney as big as a grape fruit. It had to come out it because it was being fed by blood vessels. They didn’t know if it was cancer. We were in shock and then they said, “There’s more. Both kidneys are full of tumors, and in five years you’ll die or be on dialysis.”

A week later I was in surgery getting this mammoth of a tumor out. They kept me in the hospital for six more weeks and used my body as a teaching tool until I had enough. They asked if I would go to the morning report. I thought there would be like five interns, but this was the last time my body was going to be used as a medical teaching tool. I walking in to this lecture hall full of interns. There were over 100 young, eager doctors, and they had my son in a bassinette. They talked about TSC (then it was just TS). They started disrobing me as each came up and gawked at the medical freak. I started crying, but as soon as I saw them by my son, that was enough. I screamed “I’m Laurie, not tuberous sclerosis!” as I put my robe on. I ran to my baby and ran down the hall. I was sent home. I guess the medical test dummy was no longer needed. As for the surgery, it was the most painful horrid thing I ever went through, worse than child birth, but I’ve always been a fast healer. Shortly after getting out of the hospital, my marriage broke apart. Whoever my ex married was no longer there. I was so different, I didn’t know myself. The army sent me and my son home, and they kicked my ex out honorably. He, of course, went back to his home in Louisiana. I came home to Texas.

I won’t tell you the long story of single momhood. The next few years I wish I could say were all roses, but they were not. Y’all might relate. I tried to be the best mom ever, and I loved being mom more than anything, but inside I felt numb and empty. There were days when I didn’t sleep and Tylenol PM was my buddy. I thought I was broken. I thought when I moved back my friends and family would be happy, and they were at first, but soon they saw seizures. Funny how out of the blue, plans to meet up changed, and they got really busy and family avoided me. I had what the doctors called uncontrollable seizures, and I was prescribed so many meds. One day my sister said, “If I was you, I would just kill myself. Really, like what kind of life are you ever going to have or your son?” It echoed so many times, so I did it. I took all my seizure meds and a bottle of wine, went to my room, and locked the door. Apparently, while taking pills with wine, I get chatty and like to call people. Next thing I knew police were in my room with EMT and all I said to them was, “I don’t remember it being share day.” I was sent to the ER and my stomach was pumped. Then I was sent to a psych ward. My stay there is a book in itself. I’m not proud of what I did; it was selfish. Then people asked, “What about your son?” I really thought he would be better off. The doctor filled me with so many meds, mostly lithium, not taking my TSC into consideration. I did three years of therapy. All of a sudden, I was always tired. If I did the dishes, I had to take a nap. It was like someone flipped a switch and all I could do was sleep. I saw my neuro and told him I was always sleepy. He ordered a test, and next thing, I was at an oncologist. I saw him a few weeks, then I was off to the nephrologist where I was told I needed dialysis. Do nothing and I’d be dead in a year, or do dialysis and get on a list. It wasn’t five years like the doctors in Hawaii said. It was six.

So now it’s been 12 years, and my TSC has taken every part of my body. Of my kidneys, half my right and all my left are removed completely. My liver is covered, my lungs (in women they call it LAM), my brain, and they’re in my bones. I have had over a hundred surgeries since 1995. My story sounds bad, but in 2005 I had a VNS and no more uncontrollable seizures. They also use the VNS with people with bipolar and severe depression. It works. I still have seizures, but not as hard. I have about 20 petite absences a day, and about six grand mals a month. As for the empty feeling, staying up days on end, and feeling like I was alone, well, there was a good therapist and friends who were always there. I had blinders on and I didn’t see them. I focused on the bad and was blinded to the good. It was about 2001 when I turned a big corner. I was Laurie and I wasn’t tuberous sclerosis. I was Laurie: the mom, friend, and daughter. I stopped feeling bad for being sick and decided I was no longer going to be a victim to this disease, but a survivor. I was coming back. Funny, sarcastic, quick wit, ME! With what VNS brought, and with the love of my son, people saw me, not the tubers or the deformed figure, just me. My son is now 18 and has seizures. Some doctors say he has TSC. Some say no. I tell him, “You’re not seizures. You’re Sean, who has seizures.” For years we have said, “I have an illness. It doesn’t have me.” Love and hugs to you all and many prayers…..

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

The Strength of Family Through Three Diagnoses

May 2, 2013 Rebecca Gaunt 3 Comments

Day 2 of Blogging for TSC Awareness Month

By guest blogger Paula Krischel (Dwight, Illinois)

Paula with her husband and three sons, Mason, Joshua and Adin.

My story started when I noticed my infant son, who was 11 months old, puking and seizing. We went to our local hospital, and his pediatrician knew it was more than he could help with, so he sent us to Chicago. That was the first time we met Dr. Huttenlocher and started our long journey with TSC. Never in my wildest dreams could I imagine that I had this disorder for 26 years, and was completely unaware.

My world was falling apart. I became depressed, and my son was having uncontrollable status epileptic seizures. I not only had to learn all I could about this disease, and the fact we had to live day by day to see how it would affect our boy, I had to learn to accept that I do have this disease and cope with the guilt I felt about giving him this terrible thing! Mason, who is now 17, ended up having global delays; he is severely affected by this disorder, severely autistic, and will never have the ability to live an independent life. We started with therapy at a young age, but did not see much progress for many years.

We were feeling compelled to have another child, feeling Mason needed a sibling to help him learn. We prayed a lot and had Joshua. Joshua is now 14, board scholar, and wants to one day be a geneticist and work in gene therapy. As of now, he shows no signs of having tuberous sclerosis, and he wants to one day find the cure for it. We have advised him to get genetic testing done when he decides to have a family.

When my Joshua was 10 months old, I found out I was pregnant again. Eight months later I had Adin. I was not as comfortable about this pregnancy because we were planning on stopping at two. We found out through ultrasound, at seven months along in the pregnancy, that he too would have that terrible disease called tuberous sclerosis. We did a lot of praying, and even though he is autistic and has global delays, he is a ray of sunshine who can brighten anyone’s day. He is considered mild/moderately affected by this disease. He is able to communicate with us, but his older brother is very limited in his speech. Even though he started out with infantile spasms at three months, we have been able to keep his seizures under control fairly well for 13 years. He did have a breakthrough grand mal once, when going through a growth spurt. He has been under control again since 2009.

We have spent countless minutes with doctors, tests, speech therapy, occupational therapy, music therapy, physical therapy, behavioral planning, making safety plans for at school and home, and the list goes on.

Now our latest scare is me. Recently I found out my tuberous sclerosis is wreaking havoc in both of my kidneys. I get to start the new medicine Afinitor to see if we can save my cyst-filled kidneys from getting any worse. Both of my boys are on it as well for SEGA brain tumors. This is the first time I have been seriously concerned about my own health. I am the main caregiver of my boys because my husband is a very hard-working plumber, who works diligently so we can pay for all the expenses this disorder accrues. There never seems to be a very long break of good health in our family, but because of this disorder, we are stronger, more loving, and cherish all milestones that we conquer! For that I am thankful to TSC. Even though our life is crazy, and the stress seems to pile up constantly, I would not change my life for one second…and continue to look forward to the future!!!

Check out her son’s post here.

MicroRNA-21 is Induced by Rapamycin in a Model of Tuberous Sclerosis (TSC) and Lymphangioleiomyomatosis (LAM) (plosone.org)
Experimental Treatment For Rare Pediatric ‘Pretzel Syndrome’ Halts Intractable Seizures (medicalnewstoday.com)

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

The Story of Stacia and the Realization of a Dream

May 1, 2013 Rebecca Gaunt 25 Comments

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

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!

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Blogging for TSC Awareness Month

April 30, 2013 Rebecca Gaunt Leave a comment

When Connor was first diagnosed with TSC, it felt like my life very quickly split into two parts: BTSC and ATSC. Before TSC and After TSC. Although the extreme emotions surrounding that feeling have faded, I still find that when I think about stuff I did in the past, I calculate how long until he would be born when I did it. Moving into the dorm with Gio-13.5 years until Connor will be born. Teaching English in Korea-less than nine years. Taking language classes in Spain-eight years. Starting to teach elementary school-less than seven. Closing down our favorite bar every weekend with Lili-less than five. Meeting Chris-three and a half. Traveling to Italy-11 months. It feels so foreign to think I was just walking around at one time, thinking something like this could never happen to me or someone I knew.

Now I wonder who the people are walking around, like I did, never even hearing of this disease, not knowing that it will enter their lives someday. There are other versions of me that are getting ready to take final exams at college, lying on a beach, starting a new job, looking for their first apartment, at the mall, house hunting, planning a big summer backyard bash, training for a 5k, and just going about their lives, with no idea that one day a doctor will say the words tuberous sclerosis complex to them.

I have a number of guest bloggers that will be sharing their personal TSC stories over the next month. Some have family members with TSC. Some have TSC themselves. Some have both situations. I hope sharing their unique stories will help spread awareness and help us find a cure someday.

Photo courtesy Catrina Simmons Jones https://www.facebook.com/LouisianaTuberousSclerosisPage?fref=ts — Photo courtesy Catrina Simmons Jones

What is it Like Having Tuberous Sclerosis Complex (T.S.C.) (wildflowerwrites.wordpress.com)

Accredo Pharmacy Problems, Parenting, Tuberous Sclerosis

Why, why, why is it so hard to get my child his medication?

April 22, 2013 Rebecca Gaunt 5 Comments

I am an incredible multi-tasker. I am currently writing this blog, on hold with United Healthcare, and having a mental breakdown. Congratulations! You f*&^%$# finally made me cry. I’ve been pissed. But you hadn’t made me cry yet. That took a conjoined effort of United Healthcare, Optum RX, and Accredo Pharmacy.

It started when we got a letter from United Healthcare that they were switching from Medco Pharmacies (which houses Accredo where we get Connor’s Sabril) to Optum RX pharmacies. All mail order prescriptions should automatically switch over. Of course this raised my cautious red flags. So as soon as the change happened April 1 I called to check the status. After talking to a couple different people, it was established that Optum doesn’t carry Sabril (vigabatrin). I was referred back to Accredo. “So everything stays the same?” I asked. “Yes.” I was told. So today I called Accredo to refill the prescription. First time it picks up to silence. So I hang up and call again. Someone answers this time. They would not fill it as my prescription had been transferred over Optum. “Oooookay. So I call them to fix this?” “Yes.”

I call, listen to more piped music, and give all my personal info twice more to Optum to be told that it’s on Accredo to call and ask that the prescription be sent back, and that they should have offered to do so. Call Accredo again. Again, their line picks up to silence, and I have to hang up and call again. More holding. I tell them that they have to call Optum and get the prescription back. They tell me they can’t because I have no active insurance with them after March 31. They still can’t fill it. “So I call united Healthcare and tell them to do what? What exactly do they need?” I’m told to call UH and ask them to open an active account with Medco so Accredo can fill the prescription.

I call United Healthcare, more holding, more giving all my info, lots more holding, trying to explain, getting transferred, and I end up back on the phone with someone at OptumRX again. NOT what I asked for. He again starts the process of refilling Connor’s Sabril. “But two people told me you don’t have it. You’re saying you can fill it now?”

“I have it right here. I’ll take care of this for you.” I wanted to hope for a second, but deep down I knew where this was going again. “Oh, we have the prescription, but we don’t actually have the med.” Yes. Exactly what I’ve been saying. YOU have the prescription, but can’t fill it because you don’t have the med. Accredo has the med, but doesn’t have the prescription or authorization.

Finally, I do what I should have done all along and call SHARE, who works with the manufacturer to deal with prescriptions. They are now working on getting United Healthcare to give an authorization to one of their participating pharmacies so we can refill his prescription. Obviously who I should have called first, but for the love of God, people aren’t psychic. Those of us outside the medical world don’t understand the inner workings. I don’t fully understand the Lundbeck (manufacturer)/Share/Insurance connection. i just know my kid needs his stupid medication. And nobody offered me any instruction on how to handle this. All I got was a letter from my insurance making it sound like a simple switchover.

I guess I am not meant to understand this world of medical mysteries. I suppose I will never know the following:

1. Why a mail order medication can be so difficult to get your hands on, seemingly more difficult and a kazillion times more expensive now than back when people had to get it from Canada because it wasn’t approved here.

2. How a cranial remolding helmet can appear to be covered, I can be charged our uncovered 20 percent, only for United Healthcare to later deny the claim, forcing time to be wasted on an appeal.

3. Why CHOA employees never return phone calls. (Hey Wanda in medical records, it’s been over a month, but fortunately it turned out I don’t need that paperwork after all, so I guess just don’t worry about it.)

4. Why Obamacare doesn’t attack the heart of the country’s issue, which is that hospitals are charging increasingly outrageous prices with no rhyme or reason, operating off of Chargemasters that aren’t standardized or remotely in line with the actual cost of care, and are allowing this medical crisis a major role in the country’s debt.

Et cetera….et cetera…et cetera…

And to top it off, seizure activity is definitely back. I suspected I was maybe seeing very occasional absence seizures, but then yesterday we saw this. So thank you, hospitals and insurance. All the families dealing with health issues can count on you, that no matter how strong they are, how positively they approach their problems, you will always be there to try to break us.

And I guess now, 2.5 hours after getting up, after writing this blog in a mere fraction of the time I spent on the phone this morning, I will finally have my breakfast.

Tuberous Sclerosis

Calling Guest Bloggers!

April 18, 2013 Rebecca Gaunt Leave a comment

I’m looking for guest bloggers dealing with TSC for the month of May! You can share your personal story, the story of a family member, or a topic in TSC. For example, school and IEP issues, making friends and family understand, challenges in living with it as an adult etc. Pictures welcome. At the end of the post I will include a link to your blog, Etsy Shop, TSC fundraising page, whatever you like as long as it’s YOUR page.

And by the way, I’m always interested in hearing from guest bloggers on other topics as well. Got a blog? Share your story here and link to yours. Mommy stuff, fun things, travel, food and other medical conditions that you want to spread awareness of. E-mail me at pin.the.map@gmail.com.

Ordinary Life, Parenting, Things to Do Around Atlanta, Tuberous Sclerosis

Tanglewood Farms…and serious matters, too.

April 15, 2013 Rebecca Gaunt Leave a comment

Does anyone know how long the ear-shattering shrieking phase lasts? Asking for a friend.

Connor is continuing to do well. Since mastering sitting at the beginning of January he has increased his range of reach around him, and pulls himself back to sitting from positions from which he would have toppled right over not so long ago. His flexibility is frankly disturbing. But when one wants toes, one will have them.

If assisted into a crawling position he can maintain it and lift an arm to reach for a toy. He can also hold himself in a standing position. The key is to now help him achieve these positions independently. Oh, and move while in them. My lower back longs for the day.

The good news is that we still haven’t seen any eye-rolling seizures since February 10. The bad news is that I suspect he may be having occasional absence seizures upon waking. I’ve counted maybe 6 or 7 instances in which shortly after waking up, he purses his lips tightly and stares off to the side. They aren’t very long–maybe 20 seconds or so. They don’t seem to have any lingering effect on him, but it’s still frustrating. We get these little windows of no seizures, and then something changes. We see the neurologist again on the 24th so we’ll discuss it then. Of course, this is much better than what was going on before.

As I mentioned, his current mode of communication is high-pitched shrieking. It’s kind of funny until he keeps it up for half an hour. Or we’re in a restaurant. He’s otherwise so well behaved in public, but his love of his own voice shattered some mimosa glasses at brunch the other day. Hear it for yourself. But don’t click that at work. People will think you are seriously weird. And then watch this just because it’s funny to see how much he loves seeing himself.

I’m having trouble gathering my sarcastic thoughts since I’ve been watching CNN coverage of the bombing at the Boston Marathon all day, so here are some happy pictures of our trip to Tanglewood Farms, an awesome petting zoo of miniature animals in Canton, Georgia.

The only downfall of the weekend was that Connor exhibited some signs of allergies. After we had been at the farm for a bit, he began to rub his face into us again, and his eyes seemed itchy. This also happened the day before at a friends birthday party. Pollen? Like Daddy? Orrrr….

was it the pony at the party? Pollen or farm animals? Pollen counts were at record highs (or so I’m told. Pollen only affects me as far as irritating me by getting all over my car and porch rocking chairs). Time will tell…

Video Recording Of Boston Marathon Explosion (997now.cbslocal.com)
Boston Marathon bombing kills 2, injures over 130 (conservativeread.com)

Tuberous Sclerosis

A quick and easy favor to ask…

April 11, 2013 Rebecca Gaunt 2 Comments

April 15 is approaching and that is the deadline for your representative to sign the Dear Colleague letter to fund the Tuberous Sclerosis Complex Research Program. And that’s pretty much all you have to say…that as one of their constituents, you want them to sign ASAP. If you suffer from, or know someone who suffers from it, you can personalize it. If your only experience is through this blog, please feel free to share about Connor. This is my most recent follow up to my representative. It was quick and easy to send:

Dear Representative Price,
I’m writing to urge you to sign the Dear Colleague letter to fund the Tuberous Sclerosis Complex Research Program. The deadline is April 15. This research doesn’t just help those afflicted with TSC. It also helps those with traumatic brain injury (which is why this is funded by the DoD), epilepsy, autism, many cancers, diabetes etc. In February, I met with you, along with two other constituents, Reiko Donato and Wendi Scheck, to urge you to sign this. We also shared letters and personal stories with you from several other constituents who are also dealing with this genetic disorder that causes benign tumors to grow on the organs. We are counting on you to represent our needs in Washington. We are eagerly watching the growing list of signers, hoping to see your name appear.

Thank you,

Not sure who your rep is? Look here. Then just go to their site to get their e-mail!

Thank you for your support!

Parenting, Tuberous Sclerosis

How I Found Perspective

April 9, 2013 Rebecca Gaunt 5 Comments

My one-year-old son Connor and I were stalked the other day. It happened at Target as I pushed his umbrella stroller through the women’s clothing section. Our stalker darted from clothing rack to clothing rack, unaware that I was watching out of the corner of my eye. I’d estimate that she was about five, and I’m pretty sure the reason she was following us was because she wanted to know what the thing was on Connor’s head. I would have just told her, simply said, “Oh, it’s just a cranial remolding helmet for the plagiocephaly that has occurred in the posterior region of his skull. No biggie.” Okay, that’s not really the way I would say it to a five-year-old, but I felt like I would ruin her fun by acknowledging her presence.

Yes, Connor has a fancy, new, almost $3,000 hat. And that’s minus any bling. You’d think three grand would get you some rhinestones or something. Thus far it has not impeded his favorite activities, which include throwing everything on the floor and turning his bottle upside down and squeezing the nipple to fill his belly button with milk. Or this:

Connor’s physical therapist had brought up the possibility of a helmet many, many months ago when the flattening of his skull was much more extreme. We were able to do a great deal of correction simply by positioning his head, but he was still left with some residual flatness as he neared the age of one, so his neurologist suggested moving forward. I wasn’t thrilled with the idea of a helmet, but accepted it. I made the appointment and took Connor for the fitting. There were pictures and sample helmets around the office. I actually found myself getting a little excited. Having to get the helmet wasn’t ideal, but I couldn’t believe how adorable some of them were. There were tons of designs to choose from, and I narrowed my top two down to one with airplanes and one with soccer balls. Then the orthotist returned and obliterated my adorable vision of Connor with airplanes circling his head. He felt very strongly that the clear plastic helmets were a better choice than the more popular styrofoam lined version that come covered in adorableness. Plastic ones were less likely to chafe the skin, they don’t absorb sweat so they don’t stink, they are easier to clean and you can see any skin irritation that may be occurring. They can also be vented by drilling holes in them. I nodded along in agreement and said things like, “Can’t argue with that.” But in my head I was cursing the stupid practical helmet, that for the same price, comes minus flaming soccer balls. How do you say, “I want the cute one,” after that? But stinky styrofoam? I could wash dishes with the sweat that pours from Connor’s head, so clear plastic it was. That wasn’t the only moment my stomach would drop during the appointment. To be honest, I went in having done no research. I’ve spent the last year reading so much about his genetic condition of tuberous sclerosis complex that I just wasn’t that worried about a helmet. I’d find out the details when I needed to know them. So I was not expecting to hear that he had to wear it 23 hours a day. I also wasn’t excited to hear that while treatment is usually three to six months, since Connor didn’t get his until he was a year old, his treatment would likely be closer to six months than three.

Those were my only negative moments though. Do I love the helmet? Not so much. I hate that it makes his head sweat so much that the effects of a bath are destroyed ten minutes after I put it back on his head. I hate that my adorable child has to wear it 23 hours a day. Oh, he’s still adorable in it mind you, but no parent wants anything to prevent onlookers from having the full experience of perfection that is their child.

I think if the last year had been “normal,” this helmet would really bother me. They’ve become much more common since the “Back to Sleep” campaign to combat SIDS, since putting babies on their backs has caused a huge increase in plagiocephaly (which is far preferable to SIDS, obviously). Nonetheless, I think I’d take it off him every time he left the house or someone came over. But the last year has not been normal. Connor was born with tuberous sclerosis complex, which causes benign tumors to grow in the organs. Currently, only his brain is affected, but we’ve dealt with five weeks in the NICU, seizures, brain surgery, daily administration of several medications, multiple EEGs, MRIs, infantile spasms, gross motor delay and speech delay. He has physical therapy, speech therapy and music therapy. I could care less about a stupid helmet.

I want a life where I care about the helmet. I also want a life where the opthamologist assures me that the occasional crossing of his one eye is not a big deal, but if it gets worse, it can be corrected with glasses, and then I freak out about how I don’t want him to have glasses. But I don’t care about the glasses either. I don’t want to be the mom that impresses the doctor by taking glasses (and helmets) in stride because after everything else, they just don’t matter. “A lot of parents ask if their kids can just have eye surgery instead,” the assistant told me. “They’d rather their kid have surgery than have to wear glasses. I guess TSC really gives you perspective.”

Perspective. I’m drowning in it, whether I like it or not. And it only took me 31 years to find it.

What is it Like Having Tuberous Sclerosis Complex (T.S.C.) (wildflowerwrites.wordpress.com)
Molding Prevention – Newborn – Baby Care (everydayfamily.com)
Torticollis (Tilted Neck) and Plagiocephaly (Mis-shapen head) in Babies (mosaicchildrenstherapy.wordpress.com)

Parenting, Tuberous Sclerosis

Purple and red go together like Bert and Ernie.

March 27, 2013 Rebecca Gaunt Leave a comment

“Bert + Ernie for Marriage Equality” / Toy Sto... — “Bert + Ernie for Marriage Equality” / Toy Story / SML.20130327.IdealHusbands.Remix (Photo credit: See-ming Lee 李思明 SML)

Connor does not own a stitch of purple and Chris wasn’t on board with me dying his hair purple to match mine, so I recruited friends and family to wear purple on his behalf yesterday for Purple Day and epilepsy awareness. Connor has epilepsy due to his brain tubers from TSC. That being said, we have not seen any seizure activity since Feb. 10.We didn’t do too shabby considering we were in stiff competition with the sea of red washing over Facebook due to the Supreme Court hearings on gay marriage. It was bad timing for me as red is definitely my color and I have a ton of it. But since that is a two-day affair, today I got to discover that my still purple hair goes great with a red top. Politics, schmolitics. I’m in it for the fashion. And who knows. Maybe someday, people will figure out that you can’t claim to have Jesus in your heart, and in the same breath, call someone a fag and condemn them to hell.