Tag Archives: developmental delays

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Not the Healing I Wanted, The Healing We Needed

May 26, 2015 Rebecca Gaunt 2 Comments

Day 26 of Blogging for TSC Awareness

by guest blogger Katie Nguyen (Rancho Santa Margarita, California)

When I was a teenager I would quietly slip into my sister’s bedroom at night and pray for God to heal her. I remember the last night I did this. The last chance I gave God to heal my little sister.

But let me back up for a minute. I suppose it would help to tell you about my sister first. My sister Alicia was born with tuberous sclerosis, a disease with no known cure and an unfair cause, genetic mutation. In her early months of life she would have up to 100 seizures a day. Twenty-four years, two brain surgeries and uncountable medications and attempts at managing the side effects of her illness, seizures are few and far between. She is nonverbal but communicates her needs well, and despite having 1/2 a brain, she has mobility on both sides of her body, though it is limited and she requires regular physical therapy. I am not going to share more about the specifics of her disease, I am going to share about the side effects. Not Alicia’s physical or developmental side effects but the effects her disease has had on our family.

In the foreword of The Hardest Peace by Kara Tippetts, Joni Eareckson Tada writes:

Everyone has a story. While sitting in my wheelchair for more than four decades, I’ve heard a lot of heart wrenching stories poured out in personal blogs, articles, books or face-to-face. Sometimes, though, people who suffer become so meshed in the details they hardly see the forest through the trees-for them, trying circumstances become an inconvenient stump or fallen log that only blocks their path to happiness. The latest medical report and PET scan are the trees of their day. They cannot see, let alone convey, the larger story.

It is a honed art, as well as a spiritual discipline, to be able to step back from the details and see how our own stories are woven into a much bigger one…God’s story.

In the early years of Alicia’s life our family lived among the trees. Alicia’s illness, paired with another major family tragedy, sent our family whirling into surviving and grappling for reasoning. We were on the horizon of a new “normal” and we were all learning to embrace it in our own way.

When Alicia was an infant I remember holding her while my step-mom went to make a bottle in the other room. A feeling of panic would come over me as she started spasming in my arms.

“She’s having another seizure,” I would exclaim.

An exasperated voice would ring back, “Just hold her. I’m almost done.”

The reality set in for both of us. A mother that could do nothing to stop her seizing infant. A sister feeling helpless as she watched her sister suffer. The rawness of not knowing how to support each other besides just forcing each other to be present in the hard moments became our “new normal”.

But I suppose I never did completely accept the hand that God dealt. I felt it was His job to heal Alicia. His duty to make things right. We were a good family. A church going, God loving family and He doesn’t let this sort of thing happen to people He loves, right? So I prayed. And prayed. I prayed at Church. I prayed every time she had a seizure. I prayed at night quietly by myself at her bedside. And then after that last night of praying for healing, that night I gave God His last chance to heal her. I stopped praying for healing.

I lived for years in anger and frustration with God. But slowly I came to realize the bigger picture. That bigger picture comes through the actions and example of my parents. The bigger picture comes into focus through the memories of family vacations done just like any other family, in annual ski trips with a modified ski seat for Alicia, in holidays that will always have childhood magic because of Alicia’s developmental stage and my parents willingness to meet her right where she is. The bigger picture pieces together with adult sons (my brothers) willing to drop anything to help, even if that means carrying 120 pound Alicia in her wheelchair 40 feet through the sand so she can see the ocean and giggle at the wind in her hair. The bigger picture makes sense when we see that through the years we have all come together in accepting our “new normal” and chose to love the best we could.

It’s hard for me to think that a God so great would allow such suffering for one little girl, a big girl now. It’s also hard for me to fathom the joy and kindness and acceptance and love He has brought out of the rest of us as a result of this girl’s suffering. It’s all a tough thing to accept and it’s impossible to make sense of.

Perhaps the healing I prayed for didn’t happen how I had wanted. Alicia is not healed in the traditional sense, but she is happy and her suffering is minimal (relatively speaking). She is loved, so loved. Her disabilities have helped us to discover our own abilities. She has inspired a family to do hard things because she has only ever known hard things. She has helped us to step outside of ourselves and step into loving with no expectation of getting anything in return. She has molded us, encouraged us, and inspired us to be better people. It’s not the healing I prayed for, but maybe it’s the healing God intended to bring to our family. Maybe its the beauty he intended for us to discover out of the brokenness Alicia was born into.

By Katie Nguyen, blessed to be sister to Alicia Hardie.

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

For the first time in my life, things were not in my control.

May 21, 2015 Rebecca Gaunt Leave a comment

Day 21 of Blogging for TSC Awareness

by guest blogger Debdatta Bhattacharya (Portland, Oregon)

I had always been in control of my life. I faced challenges but I knew if I work hard I will get over them. I was born in India into a loving family and had an amazing childhood. After I completed college I wanted to come to the U.S.A. for pursuing my PhD in physics. My parents were not happy with my decision because it was so far away from home. But I was adamant; it was my life right ? After a couple of years of coming to U.S.A, I married my college sweetheart. Six years later, both of us got well paying jobs at Intel in Portland, OR. Life was good. Finally it was time to sit back and relax and enjoy all those years of hard work at grad school. In 2010, our first born, our daughter Bartika arrived in our life. Oh what a joyful time that was, the exhausting but delightful days of nurturing her and caring for her, the ecstatic feeling of bringing new life into this world.

In 2013, I got pregnant with my second child. We found out it was going to be a boy. Everyone was excited, “oh you will have one of each”. We personally didn’t care; we just wanted a healthy child. I started planning, like I have for all other major events of my life. We sorted through all our daughter’s toys, separating infant toys from toddler toys, packed them in separate bags. I hired someone to help me out in the first few weeks after baby #2 arrived. I can’t believe it now; I even almost planned the weekly menu with her so that there would be one less thing to do.

On my 37th week of my pregnancy, we went for a routine ultrasound. I was excited to see him one last time before actually holding him in my arms. After the ultrasound, my doctor came in the room and told us “there is something wrong with the baby’s heart.” Those words and her voice still ring in my ears. We were quickly packed off to be seen by a neonatalist. He had no idea what was going on other than the fact that my baby had unusual thickening in the wall of his heart. We were told that there is no guarantee he will make it out of my womb. Such cruel words told with such heart wrenching indifference. I felt like someone just stabbed me in my chest. My child was still kicking inside me; how could any of this be true? Later that night, we got a call from a pediatric cardiologist. He said it looks like your baby has “tuberous sclerosis” (I first thought he said tuberculosis). That was the first time we had heard this term. The doctors wanted to do a c-section, but they wanted to wait a few more days to give him a chance to grow a little bigger. The little signs around the house that showed our readiness to welcome the new baby came back to bite us. The new baby clothes delivered at our door step, the unopened car seat, the toys, the laid out crib seemed to mock us. For the first time in my life, things were not in my control.

The inevitable question of “why me” kept me awake at night. We were told “law of nature” by the doctors. But we had been good to nature, recycling, reusing, installing solar panels, driving a Prius, you name it, then why us? We have given to charity, been reasonably polite with everyone, been sincere and honest in our job, then why was our dream of a perfect life being shattered so ruthlessly. I haven’t found any answers yet. But with time I have realized that most people are basically good and nobody deserves to go through this pain. But life happens and other than gracefully accepting it we don’t really have much of a choice.

We had a faint idea that TSC could affect our child in multiple ways but at that point of time we were concentrating on his heart tumors. We went to Seattle Children’s Hospital so that he had all the heart surgery options if he needed any. My beautiful boy Arij, was born on 7th April, 2014. Miraculously he did not need any surgery or medication. All the doctors had told otherwise but he proved them wrong. It was overwhelming because my arms were empty and my baby was in cardiac ICU (just in case) and a bunch of MRIs and ultrasounds were being performed on him. I had about 48 hours of absolute happiness till the doctors came back and told us he had tumors in his brain. For the first time after his diagnosis, I opened the internet and started reading about TSC. I had intentionally stayed off because before his delivery there was nothing much to do with all that information anyway. I saw terms like, seizures, developmental delay, mental retardation, autism, mentioned in a matter of fact way all across the internet. My heart sank and I cried and cried. Was I not allowed to enjoy even a few hours of my baby’s presence before being engulfed in worries again? While I recovered from my c-section, I tried to make sense of all this information. We came back home after staying for 12 days in the hospital. The first night we spent at our home as a family will always be etched in my memory. It was such a happy feeling to be home as a family for the first time, no hospital smell, no monitors, no doctors.

My husband spent the next few weeks in doing extensive research on infantile spasms and what it looked like. We had realized that we can’t control everything but we will control whatever little we can. We installed a motion detecting video camera over our son’s crib so that we could detect the first signs of infantile spasms. We prayed that we never detect anything but unfortunately around two months of age he showed some early symptoms of infantile spasms. He was started on sabril and everything was under control again. I took time off from work and took care of him. A bunch of therapy sessions started around 4 months. He was doing wonderfully till he was about nine months. That is the time when new seizure activity started. More tears, more heartbreak and more panic followed. He started falling back developmentally. The local neurologist was unable to control his seizures. Arij being his sweet self, of course just smiled through this all. We finally decided to take him to Cincinnati TSC clinic. I am so glad that we took that decision. The medicines were changed and he was put on new medicine. It took a while for him to react positively to the medicines. Patience is not my forte but life taught me to be patient. He is doing much better now but he still has some seizure activity. He is still delayed developmentally but he is making steady progress. We celebrate all his milestones. We have learnt to find happiness in the smallest of moments. We are going to start him on afinitor soon with the hope that it will control the remaining seizure activities that he is having.

It is still difficult for me write down the positive aspects of this experience. I have lived most of my life without TSC and I was quite happy. TSC has taught me a lot of things but I wouldn’t have minded leading the rest of my life without these learnings 🙂 One of the key things is of course that I have to let go of things and situations and I can’t control everything. The other is patience. I keep working with my son on a certain skill, day after day without seeing the desired result. But when I get there, I can’t describe the satisfaction and sense of achievement that I get. I also got to know the true color of many of my so called friends. Some have abruptly discontinued all contacts with me and some have stepped up to give me emotional support. We will continue fighting this battle with Arij. Amidst all these uncertainties, there is one certainty; he will always be surrounded by unconditional love.

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Bailey

May 13, 2015 Rebecca Gaunt Leave a comment

Day 13 of Guest Blogging for TSC Awareness

by Becca Patterson (Greenwood, Mississippi)

My name is Bailey and I am 5 years old. I was diagnosed with TSC when I started having seizures at 5 months. I’ve had almost every type of seizure there is but currently my seizures are under control.

I have tumors & tubers in my brain, small tumors in my kidneys, and every skin abnormality associated with TSC. I am non-verbal, physically and mentally delayed, and autistic.

I am also beautiful, silly, sweet, and a spit-fire. I am TSC.

Georgia, Travel

Sleeping With Scorpions

October 28, 2014 Rebecca Gaunt 3 Comments

It was a quiet, relaxing, long weekend in the North Georgia mountains minus the morning we woke up with a couple of surprise visitors in the room.

Chris was the first to drag himself out of bed and head to the bathroom. I heard him utter, “What is that?! Is that a scorpion?!” Haha. Chris is the boy who cried scorpion (and various other creepy crawlers) to scare me so I just said, “Yeah, right.” He continued to insist there was something in the bathtub, so I got up to look. I didn’t even make it to the door because right there in my path:

Okay, technically this is the one in the tub, but you get the idea.

Yes, right in the exact precise path I had used three times in the nearly pitch dark to use the bathroom throughout the night (I blame wine and my 30s). Thank God for my $2 Target flip flops. Sometime during the night a couple of scorpions showed up to party. I don’t CARE that the Internet insists Georgia scorpions aren’t deadly. There are certain things that should never be in a bedroom and scorpions are on the list, right after porcelain dolls and Robert Pattinson (sorry, I just don’t see it). I ended up discovering a couple dead scorpions between my nightstand and bed as well. So began the panicked gathering of items — including one toddler — and move from the bottom floor (selected for misguided idea that Connor might go to bed first ) to the top/third floor. A hefty climb for such creatures (I choose to believe). We then went through everything in our bags to ensure we had not picked up any stowaways. Chris, for perhaps the first time ever, had not completely repacked and closed his bag, something I always make fun of him for doing every night on any vacation anywhere in the world. He says he likes to be prepared for escape Jason Bourne-style. He claimed he skipped it this time because I always make fun of him, and now here he was checking for scorpions as a result of my ridicule.

But other than that little adventure with wildlife, it was a relaxing trip. I even managed to read an entire book in about a day and a half — something that I used to be able to do all the time, but can barely get through a chapter most of the time these days. I couldn’t believe how fast I tore through this book. I felt like my increasingly dysfunctional brain had woken up in the fresh mountain air. Okay, so it turned out at the end that I had downloaded a Young Adult novel. I knew it had won awards and was also being banned in several places, cementing my desire to read it. I just didn’t realize the places it was being banned were American school libraries. At any rate, The Absolutely True Diary of a Part-Time Indian by Sherman Alexie was pretty good.

I also discovered that Connor, who loves taking baths at home, isn’t down with large Jacuzzi-style tubs. He flipped out and refused to even let me set him down in it, so I had to bathe him in the sink as the regular tub was now hosting a scorpion.

Connor has really been making great progress lately. Some of the awesome things we’ve seen lately:

He’s very quick to respond to requests more frequently, like “let’s go upstairs,” “time to eat” or “show me______.”

He was able to squat down perfectly, pick up book and stand back up without any support from furniture.

He watched me demonstrate his bowling set and immediately helped me set the pins back up after ONE DEMONSTRATION!

He had taken his bib and put it on the couch. When I told him to come eat, he actually stopped, picked up the bib and brought it with him!

We are still waiting to hear from GW about including him in the Epidiolex trial. Argh. It’s been a month since additional paperwork was submitted.

Side note: I’ve previously posted about Accredo Pharmacy (Express Scripts) issues. A couple readers have contacted me about their ongoing issues and have subsequently started an FB group and petition. Please check out those links if you are a dissatisfied patient. While I do believe there are some employees working to help the situation, it appears they are the minority and way too many people are still fighting for their prescriptions. The change isn’t coming fast enough for people who are very sick and depend on these meds. If you are experiencing issues, please e-mail Jennifer Luddy at ExpressRxHelp@express-scripts.com.

Parenting, Tuberous Sclerosis

Connor just walked his longest distance ever!

July 24, 2014 Rebecca Gaunt Leave a comment

Tuesday Connor walked his longest distance ever independently. He’s been getting better and better at walking with the emotional support of holding a hand or even just a finger, and sometimes even just knowing our hands are hovering over his shoulders is enough. We were waiting for aquatic therapy to start and walking around the pool area for practice when he suddenly let go of my hand and went on his way. His previous record was eight steps in our house. This time he walked half the the length of the Olympic pool. The lifeguard clearly thought I was insane chasing after him, hands at the ready to catch him and whisper-shrieking “Oh my God, oh my God!” As we passed him by I gasped, “He’s never walked this far before!” So then the lifeguard got excited and when Connor finally did go down he joined me in clapping and offering congratulations.

Chris did his part to add to the family excitement Tuesday, too. He mowed the front and back yard without incident, came in, showered, changed, sat on the couch to relax and THEN got stung by a bee. It must have gotten inside at some point during the mowing process as we went in and out. But his throbbing arm is simply the price that must be paid to lord over our neighbors.

I have also been enjoying time in the great outdoors.

My other exercise comes from picking up after Connor. He has always enjoyed starting his day by emptying his toy tubs and pulling all the books off the shelves, but lately he’s been a little too enthusiastic about chucking his belongings behind him. Once everything is in a pile behind him, he turns around and starts chucking everything in the other direction. He is highly amused and excited by this, so I think it’s a stimming behavior.

Which leads me to my plea. While I certainly lack the degree of cleanliness OCD my husband demonstrates, I do have an obsessive need for the house to be clean when people walk in (except for his at-home therapists–I blow their mind when I’m even actually dressed). I don’t care what it looks like five minutes later…but it must be clean when guests walk in. For that reason, you MUST be on time when you come over. The protocol typically calls for a mad rush of throwing all the toys in the correct baskets within the 10-minute window before expected arrival. Until you walk in the door, I must distract Connor from his need to rectify the disgusting clean I have made. It is not always pretty. But once guests have entered and caught a glimpse of the clean floor, I can unleash the kraken.

The weekend before last we went to a social event held by the Georgia early intervention program Babies Can’t Wait. It was a bit surreal as I heard my name and looked up to see someone I hadn’t seen since high school. I had this strange moment of trying to process that intersection of someone from my past crossing into the special needs department of my life. There were the normal “how are yous” and then the awkward trying to figure which questions were okay to ask. I was thinking, “I can ask, right? That’s not weird…is it?” Over and over. She was the first to break the ice and we discussed the two rare genetic disorders that had unexpectedly altered the course of our lives. But these are the things, along with Facebook support groups, that keep the bitterness and the feeling of being targeted by life at bay. Oh, the life paths you couldn’t fathom when you were walking the halls of high school…

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

This year we celebrate 40 years of TS Alliance’s existence.

June 1, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 32

by guest blogger Susan McBrine (Oregon)

Tuberous Sclerosis.
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.

Please see Susan’s contribution from last year’s blogging event about the founding of the TS Alliance.

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.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

A Parallel Universe

May 29, 2014 Rebecca Gaunt 2 Comments

Second Annual “Blogging for TSC Awareness Month” Day 29

by guest blogger Sara Weathersby (Decatur, Georgia)

At a UGA football game circa 1999. — At a UGA football game 1998 or 1999.

Unlike many who have blogged about TSC, I am not diagnosed with it or caring for someone who has the diagnosis. I became aware of TSC and the havoc it wreaks through my friends Becky and Chris and their son Connor. Becky and I went to college together and remained friends in the following years. We were delighted to find out we were pregnant at the same time. Connor was due just a month before my second son, Malcolm. My older son, Max, was a young toddler at the time, so I would share product recommendations and advice with Becky over the next several months.

One day, Becky told me that the doctors found something irregular with Connor’s heart on an ultrasound and were going to observe him more carefully and call in a specialist to examine him once he arrived. I honestly, confidently believed with every fiber of my being that the doctors were being overly cautious. If ever there’s a time for doctors to be so cautious, it is certainly when the health of a baby, particularly my friend’s baby, is at stake. Neither of us were very worried as we talked about ponytail holders and chapstick going into the bags to go to the hospital.

When Connor was born, Becky and I texted back and forth. The delivery went well and she and Chris were just waiting for the nurse to bring him back to them after some observation. They waited to hold and cuddle their precious new son. I waited for the obligatory pictures to pop on my phone. They waited to gaze into his eyes and memorize every inch of his perfect face. I waited to hear once and for all that everything was great.

Becky's wedding reception 2010. — Becky’s wedding reception 2010.

But it wasn’t great. While in the nursery a nurse noticed Connor was having a seizure. While Becky and Chris waited, the nurses and doctors were trying to figure out what was going on with Connor and how to treat him. They diagnosed him with TSC and kept him hospitalized for a month. They determined that he would need neurosurgery to remove a tuber from his brain to hopefully stop the seizures. The doctors expected him to have developmental delays but didn’t have a clue what that would look like.

This is not the kind of thing that happens to me or my friends. We work hard, pay taxes and make good choices. How could this be happening? How could someone that I know and love have to go home from the hospital without her baby? What could I possibly say to Becky and Chris? I certainly had no “been there, done that” mommy advice to offer.

Somehow, Becky and her family were absorbed into some kind of parallel universe where you don’t get to room in with your newborn and take him home to his new nursery in a day or two. Instead, my friend stayed at the side of her baby’s incubator surrounded by tubes, wires and machines that allowed the doctors to best figure out a plan for his treatment.

Meanwhile, I’m waddling around, near the end of my own completely healthy pregnancy with my completely healthy son. I wondered what in the world I had to offer this friendship while Becky was going through so much. I felt a strange sense of guilt and sadness. All the while I shared in Becky and Chris’s joy that their son was born.

Sara's wedding 2009. — Sara’s wedding 2009.

If I was feeling all these emotions, how much more intense it must have been for Becky and Chris! I grieved for all the expectations, spoken and unspoken, I had for this new phase in my friendship with Becky. We were both moms now and our sons were supposed to play together. But what now? How was TSC going to change our friendship? I determined that it was better to show up not knowing exactly what to say or do and risk putting my foot in my mouth than to do or say nothing. Becky and Chris sat in that parallel new parent universe where nothing comes easy. They were so sad that Connor was having seizures and had been diagnosed with TSC but yet overjoyed to have a son. They were devastated that there son is not typical but hopeful that his growth and development will come along such that TSC will not put any limits on what he can do.

In the universe I’m accustomed to of course parenting is tough and an emotional roller coaster. In the parallel universe where Becky is, it seems more intense. There are more doctors and appointments to keep, more worry, more money to spend, more resources to find. Everything is just more. Meanwhile, my own little one made his way into the world and disrupted everything in just the way you expect. How do I step into this strange place where Becky and Chris are without sounding trite or lacking compassion?

It actually turned out to be pretty easy to be maintain our friendship. We just kept texting and talking about our boys. Connor’s milestones look different

Connor in the cow costume, Malcolm as the monkey, Max as the big pirate, and their friend David the pirate.

from Malcolm’s. Connor has to work so much harder to get from milestone to milestone, but he’s doing it. I was afraid Connor’s diagnosis would put awkwardness in my friendship with Becky because I just wouldn’t understand how different it is to parent a child with special needs. When the boys play together (as much as they do as young toddlers) it’s clear that Becky and I have a lot more in common as moms of toddlers than there are differences in parenting a special needs child and a typical child. The fact that Connor has special needs actually didn’t alter our friendship all that much. Perhaps that’s because Becky and Chris love Connor so completely and have managed to accept that TSC is a part of their lives now. They haven’t let TSC cast a shadow on their lives or rob them of the joy of parenting. They have made it easy to ask questions about TSC and what it means for Connor.

As the months went by, I started to realize the idea of the parallel universe where families with special needs children live wasn’t really accurate. We buy the same diapers, and clothes for our kids.

Malcolm doesn't mind crawling around with Connor, even though he can walk already. — Malcolm doesn’t mind crawling around with Connor, even though he can walk already.

We live with the same healthcare system. Instead of thinking of families with special needs children living off and away somewhere doing mysterious special needs things they don’t want people like me bugging them about, they’re actually at the same Target store I go to. We live in the same world but unless you know someone whose child is ill, you can keep going along in your own circles and never hear the stories of these families and their precious children.

In Georgia, we recently had an opportunity to legalize medical marijuana for children with seizure disorders. Our state representatives failed miserably to pass the very popular bill. This experience made it clear to me the importance of raising awareness of TSC and the reality faced by families with special needs children. Just because a policy, or law or healthcare plan works for you or at least doesn’t hinder you doesn’t mean that you don’t have a voice in improving the lives of our most vulnerable children. Those of us who are blessed with healthy children owe it to our friends, relatives and the people in our communities who are raising special needs kids to keep investing in those relationships even when, and especially when, a child is diagnosed with an illness or syndrome. We can make our healthcare system work better and our government more responsive. But first, we all have to be aware.

In the dorm -- Myers Hall at UGA -- in 1998. — In the dorm — Myers Hall at UGA — in 1998.

Both pregnant at Becky's baby shower 2012. — Both pregnant at Becky’s baby shower 2012.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

I believe that the baby you have is the baby you are DESTINED to have.

May 26, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 26

by guest blogger Samantha Wiemuth

Zander was born June 25th, 2004. He was 8 lbs 13 1/2 oz and 20 inches long. He seemed healthy and happy. We were so excited he was finally here since he made us wait an extra 10 days to arrive! In the first week of being home, he was down to 8 lbs., and we had to feed him through a syringe and a dropper until he was strong enough to suck on his own. Within the next few days, Zander gained all his weight back and he was healthy again. A few months later, Zander started dropping his head into his arms when he was in his johnny jump up. My sister and closest friend KNEW he was having seizures and told me to make a doctor appointment, I thought he was just playing, but we took him to the doctor just to be sure. On November 30th, we met with a neurologist. We told him about Zanders episodes and that my husband Jamison had a disorder called Tuberous Sclerosis. We were worried Zander could have this too. The doctor told us to come back in the morning for more tests and a sleep study.

That next day was one of the worst days of our lives. Zander was diagnosed with Tuberous Sclerosis and infantile spasms. My world came crashing down, but I believe that the baby you have is the baby you are DESTINED to have. Zander was meant to be my child, and I was meant to be his mom. Over the next few days, we learned Zander had been born with Tuberous Sclerosis. He had tumors on his brain and heart, lesions on his eyes and kidneys, angiofibromas on his face and ash leaf spots on his body. This rare disorder happens in only 1 of 6,000 live births. I was devastated thinking I did this to my baby!

The medicine we needed to treat Zander was NOT FDA-approved in the United States yet, so we had to order it from Canada. As Zander grew, so did his seizures. They became harder to control and more aggressive. The damage from the infantile spasms and seizures caused delays in Zander’s development. Despite all of this, Zander had this amazing spirit, and we celebrated everything he was able to accomplish. He said his first word at 11 months old. He started walking at 2 1/2, just in time to go trick-or-treating with me, hand-in-hand!!!! He started school at age three, and by this time he was having 5 to 10 seizures each day. He was on three seizure medicines and one emergency medicine. After one especially hard day, I called a friend for support, and she suggested that I take Z to see a chiropractor. She knew of a great lady with a gentle touch, and that I should just give her a try and see what I thought. I had been so worried about taking him to the chiropractor since he was so little but I was desperate and didn’t want him to get worse. I was ready to try anything! Zander started going to the chiropractor three times a week for a whole month of September 2008 straight. At the end of that month, Z had a huge seizure. When I called the doctor they said he was toxic (He was toxic because the adjustments got his body aligned and his blood flowing correctly to the brain). It was too much medicine flowing through his body) and we needed to take him off two medicines all together and reduced the other one by half!!!! It was AMAZING! I couldn’t BELIEVE we were taking him OFF medicines and not adding more!! Zander then was seizure-free from Oct 2008 until June 2010.

In June 2010 my husbands job transferred us from Wisconsin to Texas. I was lucky enough to find the Texas Scottish Rite Hospital right away a few months before we moved here. The TSC clinic has been such a blessing to our family. We had to find a new chiropractor though, and we were lucky enough to find the perfect one on the second attempt. After we found Dr. Eric Alvarado in Arlington, Z started to be seizure free again about January 2011!!! He has only had about 15 seizures in the last 4 years. He is only having them when he is overheated or when we travel more than ten hours straight. As he continues to grow, we are reminded every day what a strong and amazing young man he is and what a blessing he has been in our lives. Zander still struggles everyday with controlling his behavior, physical activity and academics.

So, when he turned 7 (2011), we decided to submit him to the Make-A-Wish Foundation. We were hoping for some relief and to be able to do something fun! Zander was so excited he picked out two wishes just in case they weren’t able to grant the first one! He wished to be a Zookeeper and his second wish was to be paleontologist!!! When his wish granters came over, they made an instant friend when they gave him a huge dinosaur and cupcakes! They were so great and kind with him. Since Zander had been approved to receive a wish, Make-A-Wish has included Zander in every activity they have for his age group. We stopped by the Fort Worth office and Zander received a huge warm welcome and even more gifts. We went to Brooks Brothers to get fitted for suits for the Make-a-Wish Gala event and he received even more gifts and treats. They were all so sweet and accommodating to our family. Zander has truly been treated like a king and I’m so overwhelmed with gratitude for everyone at the North Texas chapter of the Make-A-Wish Foundation!!! Then May 26th 2012 was Wish Day!!!! They Took
him on an AMAZING scavenger hunt and then topped the rest of the day off at the Dallas Zoo!!

After his Wish things went back to normal for a while. He was doing well, no seizures, behavior wasn’t too bad, and life was good. Then March 24, 2013 our world was turned upside down. My mother passed away unexpectedly. This was horrible for Z; he was very close to my mom. He stopped sleeping, stopped eating, started have bad behaviors. I did everything I could think of to help him: therapy, let him sleep with me with out arguing, went to two hospitals. Then we got him on new behavior medicine which ended up with him being suicidal. It was the worst year ever. Finally we got him off those medicines and into more therapy and with some healing he is doing better. His seizures are controlled with weekly chiropractic adjustments and seizure meds. I am thankful my son is alive and well today!!

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

From Reflux to TSC

May 20, 2014 Rebecca Gaunt 3 Comments

Second Annual “Blogging for TSC Awareness Month” Day 20

by guest blogger Melissa Marino (New Orleans, Louisiana)

Our story began in November of 2012 when we found out that we were expecting our first child. My entire pregnancy was a breeze, no morning sickness and no complications. Every ultrasound was absolutely perfect and we could not wait for our bundle of joy to arrive. Carter was born on July 11, 2013 weighing 6 pounds and 13 ounces. He was the most beautiful thing that I ever laid eyes on, with his perfect bald head and big chubby cheeks. The first two months were great and he was the happiest, most laid back little boy in the world. In September, shortly after turning 2 months, I began to notice that something was not right with him. He would squint his eyes and his right arm would raise into the air. This happened in clusters several times a day. I immediately took him to the pediatrician and she referred me to see a neurologist at our local hospital. I called that day to schedule an appointment, explaining to them that I believe my two month old is having some sort of seizures. I was given an appointment four weeks away. Seriously?? I am telling you that my baby is having seizures and you politely say that you can fit him into the schedule in four weeks??? I was devastated, so I started doing research using google and the more I read, the more anxious I got.

After about a week of him having these episodes, I finally had enough so we headed to the emergency room. The first thing they told me was not to worry, it is probably just reflux. I was not settling for that answer, so I demanded that they watch the videos and check him out anyway. Finally they ordered an EEG, and sure enough the EEG showed that he was indeed having seizures along with an abnormal heart rhythm. That evening, cardiology came in and told me that Carter has Wolff Parkinson White Syndrome. After a couple days in the hospital, they finally took him down for an MRI. The next morning, the results were in and his MRI was normal. The doctor explained that since they could not find a cause for his seizures, there would be a good chance he would grow out of them. Carter was started on Phenobarbital, which did not work. We were sent home on Keppra and Topamax, but the episodes continued. We went to our cardiology consult where they did an echo of his heart and everything came back fine. The WPW wasn’t causing any symptoms and his heart structure was perfect. I took him back and forth to the hospital for constant EEGs and everyday his seizures were only getting worse. Come October, we were back in the ER. The weird arm movements finally stopped, but now he was having full tonic clonic seizures. I just could not understand what was happening to my baby. His blood work was always normal and his MRI was normal, so again they had no answers for me. I finally agreed to let them do a lumbar puncture on him — at this point we were reaching for any answers. Yet again, another normal test result came back. His tonic clonic seizures continued to increase every day and Vimpat was added, which of course failed. They finally decided to give him high dose steroids through his IV. He would get a couple rounds of Solumedrol and we would take him home on a Prednisone taper. This combination would decrease his seizures by about 80%, but they would always return within two months.

He was developing and reaching his milestones through all of this, but at a much slower pace than normal. No matter how hard things got, Carter always kept a smile on his face. After failing all these medications, Carter was started on the Ketogenic Diet. Unfortunately, by the third day of the Ketogenic Diet, his seizures had tripled. He was having 40-50 tonic clonic seizures a day, so they immediately discontinued the diet. Onfi was now added on top of everything else. With every failed medication, my heart broke even more and I finally started to lose hope. So much for him outgrowing these seizures right? The neurologist decided it was time to do a genetic test, but she explained that she really did not expect to find anything. She just wanted to check everything before putting him through a muscle biopsy. She explained that they were looking for Epileptic Encephalopathies, but Carter did not seem to have any of them. Those six weeks were the longest weeks of my entire life. While we were waiting for the results to come back, Carter again developed a new type of seizure. The tonic clonic seizures had pretty much disappeared thanks to the Onfi, but along came the head drops and spasms. So now Banzel was added to his long list of medications.

In March of 2014, he was 8 months old and we finally received a diagnosis of Tuberous Sclerosis. My heart was shattered; I was confused and angry. How could six months go by and not a single person figure this out?!?! Well here is the reason, his heart is normal and as of now, his MRI is normal. He has no signs of TSC except the horrible seizures that do not respond to medication. He has had two scans of his kidneys, which both came back normal. Since he was a little older and we now had a diagnosis, another MRI was ordered. The results came back within a couple days and we were once again normal. Just recently, he started to develop white spots on his skin. Anyways, back to the dreadful journey. So now at this point, he is on seven medications including 250mg of Sabril that he just started. The head drops are getting worse, the spasms are increasing and my happy baby is now miserable all the time. So again, I take him back to the emergency room and they give him IV Solumedrol to slow the seizures down. The steroids always seemed to be a miracle drug, but it did not work for these new seizures. The seizures were getting worse, his entire personality was gone and all we could do was cry together. I asked on several occasions if he was having Infantile Spasms, but I was quickly assured that it was not IS. I went back and forth between doctors and the insurance company trying to get him out of state to a TS clinic. My everyday life consisted of waking up and arguing with someone all day, which only added to the stress of taking care of a very sick baby.

The reason why I decided to tell our story is because I want to pay it forward. Only four weeks into his diagnosis, I decided to reach out and ask for help through a support group on Facebook. I knew he needed to be at a TS clinic and I was fighting everyday to save my baby, but I was also losing hope at the same time. I wanted to know what was so different about a TS clinic? Can they really help him? If he had already tried every medication and failed the ketogenic diet, what else could they do? A very special lady reached out to me and convinced me to get him to Cincinnati right away. How was I going to do this? I have been fighting my insurance over a referral for weeks now! She put in a call for me and within 24 hours, I received the call from Cincinnati. I could not believe what I was hearing when they told me “Just get him out here and we can handle the referral from here.” I started a fundraiser and within 24 hours, we raised enough money to cover the very expensive last minute flights. It could not have happened at a better time because two days later, Carter’s condition took a turn for the worse. We changed our flights right away and the next day, we were on a plane heading to get my baby the help he needed. When we arrived, Carter had his first 24 hour VEEG and his medications were changed immediately. Just when we thought things couldn’t get any worse, we were informed that Carter did in fact have Infantile Spasms. Being a new TSC mom and having someone keep telling me that it’s not, I eventually started to believe it. Well at least a part of me did, but my mommy instincts still said that something was not right. I suddenly felt relieved that someone had an answer and we were finally in the right hands. All of my hard work, along with the help of some pretty amazing people, had finally paid off. It has only been two weeks since all of this happened and his seizures are still not fully controlled. He still has his good days and bad days, but we work together everyday by phone to coordinate his care. Since being home from Cincinnati, he has started to smile again and for that alone, we are very thankful. The point of my story is, sometimes you have to fight for what you believe and stand up for these innocent babies who can’t defend themselves. Always trust your mommy instincts and follow your heart. If you feel that something isn’t right with your baby, it probably isn’t. Through this journey, I have learned that we are not alone and there are still some pretty amazing people in this world willing to help. Without the support of my friends and family, I would have fallen apart by now. I have also gained an entire new family over the past six weeks, my TS family, and their encouragement and inspiration is what helps me through the bad days. It takes 100% of a person’s time to care for these unique babies, but somehow everyone manages to still help each other.

Not knowing what the future will hold for my baby is probably the hardest part of this journey. I walk on egg shells each day just waiting for the next catastrophe to come along. Of course, I hope and pray every single day that my Carter will stay strong and fight his way through this. But there is one thing that I do know, no matter what happens, I can look at myself in the mirror and know that I did everything that I could to help him. I gave up everything just to spend every moment with him, I struggled to get him the best care available and most of all, I make sure that he knows just how much I love him!

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Thank you to all of you, my “virtual” friends and TSC family.

May 18, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 18

by guest blogger Sarah Burton (Highland, California)

Our journey with TSC began on November 3, 2012. When Jackson was 3 months old, he had his first seizure. His
eyes rolled back and his body fell limp. I just remember holding him up and crying to my husband, “What’s wrong with him!” The pediatrician said it didn’t sound like a seizure and to monitor him at home. The next afternoon he had another episode, so went immediately went to the ER. They admitted him right away, and he had four more seizures that night. He was pumped full of Phenobarb, which quickly controlled them. After a normal EEG, an MRI was ordered and we were diagnosed with Tuberous Sclerosis Complex.

We experienced all the normal reactions…disbelief, anger, sadness, confusion. Those feelings did not go away for a long time, and some still linger. After four days in the hospital, I came home with Jackson. I walked into our bedroom, looked at his bassinette, his baby calendar, and felt an immediate sense of loss. I was lingering in this dark fog between life before the diagnosis and life after the diagnosis. Nothing of Jackson’s looked real or familiar.
It was a horrible feeling.

As I was attempting to deal with this news, I was comforted by my amazing family and friends. Everyone wanted to help, to reach out, and to be there for us in any way they could. But it wasn’t enough. No one would ever begin to know what I was going through, what I was feeling. Our lives were forever changed overnight, and I needed to find a way to cope. I needed to stop looking at my son and seeing only the disease. I needed to stop looking online where all I seemed to come across was devastating information. I needed to find someone who understood my pain.

About three months in, I found Inspire. I starting reading other people’s stories, other people’s struggles with TSC, and it brought me closer to a human connection that I desperately needed. I reached out to a few people, asked some questions, and it felt good. But it wasn’t enough. I still felt alone, like all I could think about was the disease, and Jackson’s future.

I had Facebook, but never used it for anything relevant. I decided to try and search TSC. And I found Becky and Connor. A mother and her son with TSC (who reminded me so much of my little Jackson). Her stories of the struggles and triumphs with TSC had a funny, sarcastic twist which brought some much needed humor into my world. It was a reality that I could relate to. That’s what I needed. I needed someone to walk along side of during this journey, someone who understands. I had plenty of people in my life who sympathized with me; I needed someone who could empathize. I continued to search out TSC on Facebook, joined the TS Alliance group, and connected with more and more people. I found an amazing group of women, viewed pictures of their beautiful families, and read their stories. I saw the faces behind the disease and finally began to accept that this was our new normal. Two of the pieces of advice I was given: “do not let TS define your child” and “one day at a time” still guide my daily attitude.

When my first born Isaac was two years old, running around and getting into everything, I must have expressed exhaustion to my mother. She said, “Honey, you want your child to be getting into everything, that’s what they are supposed to do.” She then told me about her friend who had a special needs child who was not “getting into things.” I think about that conversation all the time.

Jackson is now 21 months old. He is mobile, but not walking independently yet. He can crawl, pull up and cruise really well. He is finding his balance, so we hope to be walking soon! We had seizure freedom for seven months, but this past November his infantile spasms came back with a force. We have tried numerous meds, Prednisone and ACTH, but nothing has worked. It has taken a toll on his development. We have a wonderful neurologist at UCLA who we absolutely love! We will start testing in two weeks to see if Jackson is a candidate for surgery. But our story does not end here, this is only the beginning. My sweet Jackson. He gives the best hugs and kisses, and when I smile at him, he smiles back. That’s all that I could ask, for my son to be happy and to feel loved.

So “thank you” to all of you, my “virtual” friends and TSC family. You ultimately helped me cope; you are what I needed. Thank you to my amazing husband Caleb, and my two other beautiful children Isaac and Ava, who help me on a daily basis take the best care of Jackson possible. We are so fortunate to have a close knit family and circle of friends, who lift us up with their constant outpouring of love and support. Another TS mom emailed a video that included the following quote. For all of the TSC fighters and their families, for a cure one day…

“Love is just the antidote when nothing else can cure me.”

Living in Atlanta, loving travel and watching my son kick tuberous sclerosis complex's butt.