Going into my 20 week ultrasound, my biggest concern was that the ultrasound tech didn’t tell Randall and me the gender of our baby. It was important to us that it was surprise. Oh those were the days…
Leaving the ultrasound I was now worried that my precious baby wasn’t even going to make it to birth. Something was on her heart. What, we didn’t know. We just had to wait. I remember crying in the arms of Randall saying, “Oh my god! It’s on the heart! Couldn’t it be anywhere else? That and the brain are just the worst.” Again those were the days.
4 months later it was confirmed, our daughter, Isabel Katherine Madison, was diagnosed with Tuberous Sclerosis Complex (TSC)– a rare genetic disorder causing benign tumors (known as tubers) to grow on vital organs throughout her body. So it turned out Isabel didn’t just have tumors in her heart, but also on her skin, in her eyes and in her brain. And later in life, she would be at risk of getting them in her kidneys, teeth and lungs. I won’t go into a scientific description of this disease, but instead focus on what it meant. It meant that Isabel would have a 90% chance of developing epilepsy in her lifetime, a 66% chance of being on the autism spectrum and also be at risk for developmental delays and behavior disorders. It could also mean that Isabel wouldn’t experience any of those side effects, as Tuberous Sclerosis Complex is an unpredictable disease that affects each patient differently.
At two and a half years old, Isabel is considered to be more on the extreme end of the spectrum with regards to the disease. Specifically, she has a misspelling in her TSC2 gene, which compared to patients who have a misspelling in their TSC1 gene, are typically more negatively impacted. At just five months old she began having what are known as infantile spasms (a type of seizure) which has severely impacted her with physical and development delays. Today, Isabel developmentally tests closer to a 6-9 month old vs. a 2 year old. Isabel does not walk, in fact she doesn’t crawl, sit up nor even roll onto her stomach.
I realize I skipped around a bit. We went from pre-birth to newborn to toddler in about 30 seconds. Of course there is a lot of story in between. Isabel Katherine Madison, born January 17, 2015 is the light of my life, her dad’s life, and almost everybody she meets. She is amazingly adorable, not just because she is so beautiful, but because she is so good natured. Although none of them would probably admit to it publicly, most of her therapists and even a research assistant have claimed she is her favorite patient because she is so loveable. Amid countless medical procedures and being force-fed medicine 3 times a day, Isabel rarely has anything on her face besides a smile. Her favorite things are her family, music, anything that has to do with water (swimming/bath time), cupcakes, and Mikey Mouse.
Once we confirmed Isabel had TSC we wanted to make sure we did everything we could to ensure she had the best possible chance of living a full and independent life. We immediately enrolled her in Early Invention, a state-funded program, which provides therapy to kids at risk for having developmental or physical delays. She started with physical therapy, but quickly added occupational and developmental therapy to her busy schedule. We also quickly found the best TSC Clinic at Cincinnati’s Children’s Hospital. Although the 5 hour drive every 3 months took a toll on us, it was worth it to ensure Isabel was getting the best care by people who believe to the core that medicine is an equal balance between science and compassion. The early part of her life felt like a combination of doctors’ appointments, therapies and not much else. But Isabel kept us strong throughout with her immense ability to show love through cuddles, hugs, kisses and smiles.
Right before she turned 5 months old we began to notice Isabel was having strange eye movements that began to seem repetitive in nature. Isabel had always preferred everything to the left, and all of the sudden she was repeatedly rolling her eyes to the right. The exact day she turned 5 months old, these “spells” were diagnosed as infantile spasms. The following months were not only a struggle to find her the right medicines, but many tearful days watching seizure after seizure, up to over a dozen in a day.
Up until this point, Isabel was in daycare 2 days a week, with my mom one day a week, and with Randall two days a week. Randall is a real estate broker, which allowed us to have this flexibility since he could do some of his work on nights and weekends after I returned home from a typical 8-6PM corporate America job. Around 11 months, her doctors prescribed her a new medication, Afinitor, which had shown some amazing benefits to TSC patients. Helping with seizure management as well as reducing or stopping tumor growth, we’ve been pleased with the progress so far, besides the side effects of being an immunosuppressant. We immediately noticed a change once Isabel got on the medicine, her eye and heart tumors completely disappeared and after 1 year on the medication her kidney lesions are gone and brain tumors have started to diminish. Unfortunately for how well the medicine was working, Isabel also started experiencing some of the negative side effects. Her immune system was compromised causing to her to have back to back ear infections and pink eye. It got to the point we had to decide – Afinitor or daycare. Based on the positive benefits we were seeing, Afinitor won out, but we’ve now essentially become a one income family. Randall still works real estate part time but his main priority during the week is super Dad to Isabel! Isabel’s health improved immediately, including no more ear infections or pink eye. She even stayed flu-free as the rest of the household came down with it. Although that’s not to say having a child with a compromised immune system isn’t a constant problem. It seems like every time we visit Cincinnati, she comes down with something, most recently pneumonia. We also have to be careful to not be around anybody with a fever, infection or even the common cold, so it makes it hard to visit with her cousins or even friends with children. Isabel ends up doing a lot of her communication through Facetime, a blessing since it keeps her in a germ-free bubble. And we’re lucky to have so many friends and family members that are so conscious of her condition and make sure they keep their under the weather children at a safe distance.
At 13 months old, Isabel had been seizure free for a period of time. She’d been cold and infection free too. She was developing with physical, occupational and development therapy, but at what I considered too slow of a rate. She still wasn’t sitting up, something I wanted so badly for her I couldn’t stand it. I used to put these timeframes on it. If a typically developing child sits up by nine months, then if she just got there by Halloween or her first birthday it would be fine. These timeframes came and went. When her physical therapist suggested we get her a Leckey chair (therapy chair for physically impaired children—now one of my favorite items), I lost it all over again. She would surely be sitting up in the next couple of months, right? Why was Isabel cursed with these delays? It wasn’t fair for her to have to go through this! What in her brain wasn’t allowing her to make the connections and preventing her from making progress?
It was about this time I remember our family friend telling me about a unique therapy her son had great success with to help with his cerebral palsy. I reached out to her and she directed me to Suzi Marks, an Anat Baniel Method (ABM for short) practitioner. Randall was already fed up with therapies so convincing him to add something else that was NOT covered by insurance, seemed like a tall task. Don’t get me wrong, we love all our therapists, and they have provided so much support to our family. It is simply exhausting living your life around a non-stop therapy schedule, when you so badly just want to pretend everything is normal in your life. It’s a constant reminder that your kid is different, your kid, beyond all belief, has special needs. After nearly an hour-long phone call with Suzi, Randall and I decided to at least given it a shot. We said we would go to a “consultation” lesson and see if she did anything differently.
Isabel’s first session was amazing! We look back at videos pre-ABM now and can’t believe we used to think Isabel “moved around” – she was as stiff as a board. She’d cry or giggle, but other than that was non-verbal. She had a terrible time pooping and didn’t sleep through the night. Now, not all of that changed with just the one lesson, but we did see her responding to Suzi and the method in just minutes. I remember Suzi telling us how smart Isabel was, something that Randall and I had always felt, but Isabel couldn’t seem to demonstrate in the traditional ways. At that point, Randall and I didn’t even care about the money. Ok, maybe we cared, but the fact that ABM awoke Isabel’s brain in a way we hadn’t seen before, we were determined to make it work….somehow. Did we really need to start saving for Isabel’s college right this second? That was April 2016; Isabel was 15 months old.
ABM has helped Isabel immensely, and at 2 years old, she had made some accomplishments. She was somewhat verbal, able to babble what sounds like mini sentences. She’s rolling side and side, using her new skill of “bridging” to scoot herself in circles. She is able to project her voice – sometimes at the wrong time/place – which if we were a normal parent would probably embarrass us, but really we’re always just proud of her and happy for her! J And she is incredibly, incredibly affectionate. She loves to give hugs and kisses. She even leaned in to give her favorite cousin, Karl, a hug at her 2nd birthday party, which completely melted my heart. However once again, Randall and I felt like we needed to try something new, something to give her the jumpstart she so badly needed.
Right after her 2nd birthday, we started Isabel on CBD Oil to help with our abnormal brain waves and seizures control. Randall did an amazing amount of research and after some trials; we’ve found Isabel reacting well to Haliegh’s Hope. While her brain waves are still abnormal, the CBD Oil has worked well enough that we have been able to stop Depakote, a traditional seizure medication, which put Isabel into a state that Randall and I used to refer to as her “Depa-coma.” She’s awakened even more, becoming more verbal and aware of her surroundings. She’s also started Development Vision therapy to help with her focus and is being evaluated for speech therapy.
She has these bursts of brilliance. For example, after I came home from work after a long vacation and walked through the door, I heard Isabel yell, “Hi Mom” like it was completely normal, something she always does. It makes me wonder, does she say that every day in her mind when I get home, and this was just the special occasion we got to hear her say it out loud?
Isabel has a long way to go and lots of potential trials ahead. She still suffers from abnormal brain waves, with strong spikes in the left temporal lobe. Since traditional medications and CBD oil haven’t been able to resolve this, our next step is getting her evaluated for brain surgery. It has taken us months to just get an evaluation scheduled, so our hope is after 2 weeks of intense evaluation, the doctors will say there is something they can do to help with her physical and development delays.
We’re also starting to get some hard questions to answer from her cousins and friends.
Cousin: “Is Isabel a baby?”
Me: “No, she’s 2.”
Cousin: “Why doesn’t she sit up then?”
Me: Baffled, how do you explain her condition to a 3 year old in words that they would understand?
Santa even had to bring her a special “helper” chair for going eat to out, because I was worried the next time an innocent hostess asked us if she’d like a high-chair, I’d just burst into tears. If one more person, says, “Awww, she looks sleepy,” I think Randall is just going to scream, “You’d be tired too if were on 3 different seizure medicines.”
But instead of focusing on what she doesn’t do or hasn’t yet accomplished, we try to focus on what she does do. The small stuff matters. It matters that Isabel can now use a KidsMe spoon and get oatmeal to her mouth almost all by herself each morning. It matters that Isabel rolls both to the right and the left now. It matters that Isabel can track items from side to side and up and down. It matters that she can squeeze me even tighter when she gives me a hug and hold my hand.
Do I still worry about when she’s going to be able to sit up? Do I worry if she is going to be able to live an independent life? Absolutely! I’m human after all. Isabel may not have a completely normal life today; in fact, she may never have a normal childhood. She may never need baby gates or baby proofing because by the time she starts moving, she may already understand what she can play with vs not. She may never be able to sit in a restaurant’s high chair. She may never be able to use the little kid grocery carts. But she is going to make a mark on this world. In fact she already does. Over the last 3 years her TSC walk team raised over $40K for TSC research funding. The Afinitor study she’s a part of is bringing new treatments to people with TSC. And hopefully by sharing this story, she will be spreading the word about Tuberous Sclerosis Complex which will help find a cure for her and all the people affected by this terrible disorder.