Our Roller Coaster Journey with Tuberous Sclerosis

Day 12 of Guest Blogging for TSC Awareness Month

By guest blogger Pamela Wolthuis  (Portland, Michigan)

NicolasMy husband Chuck and I were married on May 23, 1997.  I brought one beautiful 4-year-old daughter, Melanee, into our marriage. Little did we know on that day almost 16 years ago, that soon we would be on a journey we never expected, and that Melanee would be the only “healthy” child we would have. (Chuck loved her as his own, from the day we met on a blind date that she went on with us. He would eventually adopt her, as soon as he legally could).   Less than one year later, on May 17, 1998, we welcomed our son Nicolas into the world. He was the cutest little boy I’d ever seen, and the joy of all of our lives.  When he was about four months old, he had surgery for a hydrocele repair.  He seemed to be fine, and then all of a sudden he was bringing his legs up to his chest, almost like he was doubling over in pain.  He would cry, do this jerking with his legs, and it would go on for hours.  Several times we took him to the ER, but by the time they got around to seeing him, he would stop, and they would send us home saying he was fine.  We knew something was wrong, but no one seemed to believe us. I called the surgeon, but he was rude and arrogant, telling me, “He is fine.  What do you want me to do, cut him open again?”

We took him to the family doctor, who agreed with me that if we thought something was wrong, there very well was a problem that we needed to get to the bottom of.  His exact words I can remember to this day:  “Pam, you can have a room full of the best doctors in the world, and you as a mom, know more than them about your child.  If you say there is something wrong, I believe you.”  He sent us on for testing at the hospital.  Nicolas was set to have a ph probe, but while there, a resident looked at our baby, said he would like to do an EEG, and would that be ok?  We said yes, but thought it was a waste of time.  That resident was the one who cracked the case.  I can still remember the neurologist coming into the hospital room and telling us our perfect, beautiful baby boy had a terrible disease called tuberous sclerosis.  He told us Nicolas was having seizures.  He had epilepsy. I vividly remember telling him, “Well, if you know what is wrong, fix it.”  He said he couldn’t, that there is no cure for this disease, and that there really isn’t much even known about it.  He left the room, and I remember just crying, telling Chuck to “tell him he’s wrong.  There’s nothing wrong with our baby’s brain.”  Soon another doctor came in, telling us, “All you can do is take him home and just love him for the three to four years you will have him.”  Yes, he told us our baby would die by the time he was four.  I was inconsolable, and Chuck was feeling like it was his entire fault because he was told he passed the TS gene on to Nicolas.  They could tell, just by looking at him and the angios on his face, that he had tuberous sclerosis.  The angios that he never had a name for up until that point, that he had always worried his baby would have, but that doctors had assured him were no big deal.

When the neuro came back, he told us the other doctor was wrong, and that Nicolas wasn’t going to die.  It took many doctors to convince us that he wouldn’t die, but finally we believed them.  The first doctor who had told us didn’t know and had told us the worst case scenario. Nicolas was started on a seizure med that didn’t help.  The neuro put him on ACTH, a steroid injection given for seizures.  It had terrible side effects and didn’t help our baby.  At the next trip to the family doctor, he told us about Dr. Chugani in Detroit, who was a world renowned expert in TS.  We were so lucky to be so close to him and were able to get in fairly quick.  Nicolas was started on vigabatrin, a drug we couldn’t get here in the US, but had to go to Canada for.  Insurance wouldn’t cover it, and it was expensive, so we went into serious credit card debt to obtain it.  (More than a decade later, we were still paying for it, and finally had to settle it with the credit card companies, ruining our credit, so that we could afford to live.  But we do what we have to in order to help save our children!) It helped, but he still had seizures and was beginning to regress.  He was slipping into his own little world where he wasn’t interacting with us anymore. Dr. Chugani recommended brain surgery.

In June 2000, Nicolas had his first brain surgery.  It didn’t help his seizures, so we were angry and regretted doing it.  Then, all of a sudden, he was interacting again, and our happy boy was back!  The surgery was successful, because even though it didn’t stop his seizures, it helped him developmentally.  In 2003, we were advocating along with Dr. Chugani for more surgery.  The surgical board recommended him, and he had his second resection.  This time his seizures decreased.  He still had some seizures and was still on meds, but he was progressing.

Fast forward another year…..We finally decided to have another baby, with the thinking that God wouldn’t give us two disabled children.  On December 26, 2005, our beautiful MalarieMalarie was born six weeks early.  Within an hour of her birth, she had her first seizure and was diagnosed with TS.  Our hearts broke again, grieving for the “perfect” baby we prayed so hard for.  That is what people who have never been on this journey can never fully understand.  Although, yes, our babies are alive, we still have to go through a grieving process after a diagnosis.  No, our child hasn’t died, but our hopes and dreams for what was supposed to be have died.  We are forced into a place we never intended to go.  But just like the beautiful essay “Welcome to Holland” teaches us, we learn that we are not in a terrible place, just a different place.  So we learn to accept it, and see the beauty and good in it.  It’s not a place we willingly chose, but it’s not a horrible place either.

Over the years our kids have seen more medical professionals than most adults ever do.  Our list includes a neurologist, ophthalmologist, nephrologist, cardiologist, geneticist, gastroenterologist, dietician, neurosurgeon, dermatologist, physiacist, psychologist, psychiatrist, countless occupational, physical, speech, and feeding therapists, and pharmacists. We also have the whole special education team at school. The kids have had home based therapies, school based therapies, outpatient therapies, and soon, possibly inpatient therapy for our son.  We have been fortunate to meet some outstanding professionals, and some have even become our friends.

Nic right before brain surgery.
Nic right before brain surgery.

Today our children are 20, 14, and 7.  Melanee is a happy, intelligent college student who has more compassion than most young adults because of the experiences she has had with her “special” siblings.  We know without a doubt that she will become a remarkable adult, wherever her path in life takes her.  We worry, because when we are gone, she will become the guardian of her siblings, and is this really fair to her?  She will be tethered to them, and they will always be a major part of her life.  She has never once complained, and has reassured us that she WANTS to care for them when we are gone.  We thank God every single day for blessing us with such an amazing daughter!  Nicolas is now almost 15, but functions at a 3-4 year level.  He is autistic, has behavior issues that can occur unexpectedly at any time, is not potty trained, and may never be.  He takes eight different meds for seizures (which are still not completely controlled), behavior, and a nerve problem he just started with after his most recent brain surgery one and a half months ago. He is also the funniest, sweetest boy (when not in meltdown mode) we’ve even known.  His laugh is infectious and comes all the way from his toes!  Malarie is seven, but functions like an infant.  She depends on us for everything.  She is on six seizure meds and still has seizures several times per day.  Like her brother, she cannot be weaned off any of them, because then she starts seizing constantly. She cannot walk or talk.  She can, however, scoot on her butt across a room at an incredibly fast speed, and communicate with smiles and cries.  Her smile can light up a room in no time at all.

This is our crazy, roller coaster journey of tuberous sclerosis.  We go day to day, sometimes minute to minute.  It isn’t always easy, but it isn’t always bad.  Our days are filled with laughter, and sometimes tears.    We have lost friends, and even family, along the way, who can’t understand or cope with the way we live.  Our children will always come first, with no exceptions. We have learned the hard way who we can count on, and who our true friends are.  For that, we are grateful.  We know the miracle of something as small as a smile, or the quiet babbling of a child.  It isn’t a life we anticipated, but it is a life we enjoy, filled with love and acceptance.  In the end, isn’t that what everyone is searching for?

The family at a school Christmas party.
The family at a school Christmas party.
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