March 2009 was one of the best weeks of my life.
After struggling for years to get pregnant, we finally hit the IVF jackpot and were on our way to having twins by the end of the year.
During a routine ultrasound with my OBGYN, he noticed a small white spot on my daughter’s heart. This was right before Thanksgiving and I was 34 weeks pregnant. The OB said I needed to see a perinatologist (high-risk pregnancy doctor) right away. I was scheduled for the very next day.
After the perinatologist examined me, he said that it was highly likely that my daughter had this disease called TSC (Tuberous Sclerosis Complex) which is rare multisystem genetic disease that causes non-malignant tumors (referred to as “tubers”, as in the name) to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs, and skin.
He also informed me that TSC is one of the diseases that you could legally terminate the baby, even at this late stage in the pregnancy.
Needless to say, I was in shock and needed to get much more information before making any decisions.
After searching the internet all weekend, we discovered a TSC clinic nearby and made an appointment to see the head of the department, in order to get first hand information about the possibilities. He really helped calm us down. About 33% of cases are mild, 33% moderate, and 33% severe. I knew that we were never going to terminate unless we knew for sure that the child would be in pain or miserable for the rest of her life. No one can give definite answers!
From the very beginning of the pregnancy, my plan was to love and cherish these babies no matter how they came out and this news didn’t change my mind.
My OBGYN could not understand our decision and completely badgered me with his opinions, such as that having a sick sister would be a drag on our son’s life too, which was not helpful at all. We would have left this doctor behind,even if the high-risk pregnancy hadn’t required us to move on to a specialistAs her condition could require immediate surgery in the neonatal cardiology unit at Children’s Hospital, and the don’t do deliveries there, we were set up with an OB at Hollywood Presbyterian Hospital right across the street.
Luckily, she exhibited no problems at birth, and only stayed on the Cardiac NICU for a few days. Her heart was closely followed until she was five, when her cardiologist said she was out of the woods.
Further test confirmed the diagnosis of TSC, due to light spots on her skin and a tumor in the left parietal lobe of her brain. We also found out that she had PKD (Polycystic Kidney Disease) which happens in 1% of the cases of TSC, through a mutation on a neighboring gene. Lucky us! Two diseases for the price of one.
The nephrologist (Kidney doctor) told me that he had never seen that many cysts on a baby. Usually, teenagers come in with kidneys like hers. We were also told that she would need a kidney transplant eventually. At seven years old now, her kidneys are holding strong so far.
The first year was really a blur, not only having to recover from pregnancy and a C-section, hit the ground running with twins at age 40, but scheduling and attending all the doctors appointments while watching out for any signs of seizures or developmental delays triggered by the brain tuber. It wasn’t until 8 months that we saw her first seizure, just a momentary loss of consciousness causing her to fall while crawling. Amid all the clumsiness of being a baby, we weren’t even sure it was a seizure but I guess I knew deep down in my heart that it was one and I emailed our neurologist right away.
Without even seeing her, she diagnosed it immediately. She was having complex partial seizures. Since we had a medical team in place, it was easy getting her on medication quickly. Over the course of two years trying several medicines, we landed on one that has kept her a seizure-free for 6 years, which is pretty fortunate.
When the twins were born, I decided I was going to enjoy every possible moment with them because I knew things could get worse at any time.
Turned out that we were very lucky that she’s a mild-moderate case but that doesn’t stop the worryingMore and more treatments are coming out for this horrendous disease but there still is no cure, so we keep hoping she stays stable for as long as possible. Once we passed the 3year mark and knew she wasn’t autistic, I could really breathe a sigh of relief.
I had read once about a girl with mild TSC who died after having a gran mal seizure while out jogging. She hadn’t had any seizures for years and was very bright and athletic. Just awful! I can’t imagine what those parents must have gone through, but it made me more aware of how precious life is and that we really do need to focus on today and enjoying the little moments that we get with these kids.
March, 2015 was the worst week of my life.
I was diagnosed with breast cancer, quit my job of 18 years and had to put down our beloved dog, Rocco. Actually, getting cancer gave me the courage to quit my job and concentrate on more important matters.Still, not a great week.So, now I’m facing my own health issues as if I hadn’t had enough to deal with already. Only a few weeks after feeling the first lumps, I was diagnosed Stage 3 breast cancer. Chemo, surgery and radiation were recommended by my team of doctors. My very first chemo was, to say the least, a stressful day.
My brother and mother came with me to the infusion center, and as we were driving home, I told them I felt like Chemo Sabi! We all had a good laugh and it eased the whole experience for me and them. I felt like my doctors were good and that I would have a horrendous year but then it would be gone and I could move on with my life.
As our kids are already medically savvy as a result of IVF and TSC conversations, my husband and I decided to be straightforward with them after getting some advice from friends who had been through the same thing. We told them all about the cancer and what the doctors were going to do to help Mommy. The twins were 5 at that time and it was very upsetting but they seemed to take it in stride. In fact, they got so used to me throwing up that it didn’t even phase them. On Halloween, I was really sick, couldn’t even make it to the bathroom. So, I’m throwing up in a trash can by my bed and my son walks up to me and says, “Can you tie this belt for my sword on me?” Mid-spew I say, “Um, can you go ask Daddy? I’m a little preoccupied right now.” I’ll never forget that. It was their new normal and they adjusted really well.
At the completion of a rough year of treatment, I figured I was done with cancer. I still had follow up appointments and I knew that if you make it to the 5year mark, the chance of it coming back was much lower.
Since my cancer is hormone positive (growing with exposure to estrogen), they put me on anti-hormonal medications like tamoxifen and others that I didn’t tolerate well. Chemo sent me into early menopause along with major hot flashes. My oncologist had me get a shot of Lupron every month to make sure I stayed in menopause. She suggested 5 years of that! My poor tush didn’t like those shots so I asked if they could remove my one remaining ovary (another long and fraught story) so I wouldn’t have to do the shot every month. I had that done along with my 2nd breast reconstruction surgery. The day before my birthday in 2016, the OBGYN who took out the ovary called to inform me that they found cancer cells in my ovary. There were no indications that it spread more than that, but now this meant the cancer was out in the bloodstream and capable of spreading to other organs, which is called Stage 4, or metastatic. Ironically, my oncologist put me on another regimen which included getting two shots in the tush every monthIf I hadn’t requested the removal of my ovary, we probably wouldn’t know about it spreading until it became too late.
My doctors hadn’t told me (nor do they tell others, as I’ve found out) that 30% of all breast cancer patients, no matter what stage you are diagnosed at, eventually develop metastatic cancer, currently incurable, leaving you fighting it for the rest of your life. They may give you odds on survival and recurrence which isn’t the same thing, but they never say you have a chance of it moving to other organs.My oncologist had me try several different combinations of drugs, but I wasn’t able to tolerate them and in 2017 we discovered that my cancer had spread to my lymph nodes on my left side, opposite from where it had started. The side effects of these drugs can be really debilitating.
I had horrendous migraines and extreme fatigue and nausea. We spent months trying to figure out how to get rid of my migraines which also feed off my estrogen levels. It wasn’t until I landed at a neurologist’s office that I was told that taking out my ovary was the cause of my chronic migraines. I have no idea why doctors don’t know these things from the get go but they were so concerned with the cancer and thinking about the possible side effects. Now I’m taking a bunch of medication for the migraines and getting botox shots every three months and they’re finally under control. A few more pills are helping with energy and brain fog. Small miracles.
The twins had a really hard time seeing me so sick over the last year. My daughter says that she hates my doctors because all they do is give me medicine that makes me sick. How do you explain side effects to a 7 year old? All I could say was that they are good doctors and they are trying to find the right combo for me.
One day, she was feeling really down about her illnesses and she was telling me how unfair it is that she has to take medication (for seizure control and to lower blood pressure on her kidney) and go to the hospital a lot. I told her that it definitely isn’t fair that she’s sick and there are people out there who don’t have her problems but they also don’t have all of her talents. That they aren’t as smart, funny and artistic as she is. Slowly, she began to smile. I knew I was on the right track so I continued with saying that they can’t climb like a monkey, that they aren’t awesome at karate, that they don’t understand puns and witty humor, like she does. Again, the smile grew and she started adding her own things. Whew! Sometimes you nail parenting moments like this and sometimes you don’t. I’m sure that I’m not done with this problem for good but at least it calmed her down this time.
My parents always told me that life isn’t fair. My brother and I heard that over and over growing up. As I developed my sarcastic and dark sense of humor, I eventually added my own perspective to that truism. Life isn’t fair and then you die! There is a Meatloaf (yes, I like him) song that sums it up even better, “Life is a lemon and I want my money back!”
Through infertility, genetic catastrophe, and cancer, I’ve never asked “Why me?”. My mind goes straight to “Why not me?”. It can (and does) happen to anyone. It’s not something I did wrong or my daughter did wrong. Bad things happen to people all the time. I find myself looking at people who are far worse off than me, which helps put everything in perspective. Like the woman who lost a leg in the Boston Marathon bombing. There was an iconic picture of her being carried away by a fireman and I couldn’t imagine going to do a marathon and then losing a leg. Later, I read how she made it through physical therapy and was doing well until she took a trip to Europe and died in a random car accident. If that doesn’t give you perspective, nothing will.
So, I keep hanging in there hoping that I will see these wonderful children grow up. Enjoying seeing them discover new things and introducing them to some of my favorite things. They are what keeps me going everyday, along with my husband who has been my rock throughout all of this. It’s not fair to him either but he doesn’t complain. We are all fighters in this family and we will continue to fight these obstacles the best way we know how. For me that usually means making jokes or finding the bright side in each and every obstacle. Whether that’s finding a free parking spot in Santa Monica when I have to go get a scan, or discovering how fast I can shower with no hair and having nothing to shave. Or realizing that I saved a butt load of money not needing haircuts and not needing hair products. There always is some silly bright side if you look hard enough. Even the mastectomy had a bright side! I got a free tummy tuck and boob lift!
This has been one hell of a journey being a mom to my munchkins. I really wish we didn’t have all these struggles, but it has made all of us stronger and made us appreciate the life we have. I gush over my kids because it’s a small miracle that they are even here and a bigger miracle that my daughter is doing so well. No one is going to say “I wish I worked more” or “I wish my house was cleaner” on their death bed, but you will wish you had more of those silly moments with your family.