Tag Archives: hyperekplexia

Let the Joy Begin

Joy 2015

It has started, and this year it is already so much more. More joy.  More dresses.  More excitment.  Joy Prom is seven weeks away.

Our church, the creator and host of Joy Prom, has dresses and tuxes at no cost for the honored guests. So, on a joyful Tuesday evening, Savannah and I met up with Ms B and Ms D.  Ms B is the large-hearted woman who co-ordinates not only Joy Prom but the special needs ministry at our church, and Ms D is Savannah’s personal angel who makes personalized lessons every Sunday just for Savannah to learn the greatness of God. They are our blessings.

We arrived at the church for Savannah’s personal fitting. Like some upscale store catering to a movie star, dresses were brought in and shoes were laid out and accessories were bountiful and pop-tarts and VeggieTales were there on demand.

For over an hour, Savannah was Joan Crawford, Grace Kelly, Betty Davis. She tried on purple dresses, black dresses, pink dresses of one shade and then another, Dresses with sequences. Dresses with layers. Dresses with many colours. The child with sensory issues wore bracelettes and rings. Eventually, she settled on an off-red, one-strapped dress with flowing scarf, accented by silver sparkly three-inch heels. Her first pair of heels. She chose, out of all of the shoes showered at her feet, her first pair of heels. I took my little girl to try on dresses and an hour later left with a beautiful excited young lady.

Savannah left that evening with a new dress, a purse, jewelry and of course shoes. More importantly, she left happy, confident and feeling both beautiful and loved.

Seven weeks before prom: let the Joy begin.

Advertisements

Nurses with Popsicles

20140713-185952.jpg
Transitioning into the Francis Building wasn’t easy, but it was the smoothest bumpy road we’ve ridden. The Mayo Clinic’s St. Mary’s Hospital has everything a girl could want. Disney movies on demand, Mac ‘n Cheese and nurses to accommodate. Without the incredibly attentive support staff, I don’t believe the EEG would’ve been successful, but would have instead fallen into the discarded pile of our failed EEG attempts.

I held my breath when the EEG techs unwrapped her head to attach and verify the leads. I was certain they wouldn’t get her head wrapped again. Savannah wasn’t pleased, but astoundingly, she let them probe her head and re-glue what needed to be done. Although, I think it helped that one of the techs knew Larry, the giant stuffed cucumber laying in Savannah’s bed. It’s always good to have a friend in common.

Then we got down to business and changed from the horrible hospital gown into a very stylish, very comfortable, very hot pink swimsuit. What else would a fashionista wear for a hospital stay?

With A Bug’s Life on the hospital tv, Mickey Mouse Christmas on our portable DVD player, Larry and friends in bed and comfortably dressed, there was only on thing missing. Mac ‘n Cheese.

I felt a bit foolish when ordering the food. (Yes, St. Mary’s has room service. You are given a menu when shown your room.) My first order was for Mac ‘n Cheese and two orders of French fries. I’m sure I looked like the conscientious mother. What the voice-waitress didn’t know what that the fries were also for her bored brother, who had been a trooper on the sidelines for the day.

Shortly after the food arrived, so did the giggles. I can’t say I’m happy about the food I let her eat during our stay (2 helpings of Mac ‘n Cheese, two sugar cookies, fries, a chicken sandwich, angel food cake and a muffin). I’m not sure if it was to keep her compliant or out of guilt from the circumstances, but twenty-four hours of gluttony is minor compared to a lifetime of having those EEG results.

St. Mary’s staff was amazing. Within the first few hours, two EEG doctors visited to be certain I knew what to expect and that the goal was to get the EEG. They would do whatever they needed to keep Savannah happy and compliant and all nurses had been made aware of this. An extra nurse was assigned to Savannah as a “sitter.” The sitter could be either in our room or right outside the door, it was my preference, in case an episode hit.

Which it did.

Savannah decided it was time to leave. Of course, we couldn’t. Hence, the episode. It started as anger, then a melt down, then I pressed the panic button. I was wrapped in the EEG cables with Savannah trying to push me to the door, but actually pushing me into the bed and floor, screaming and crying all the while. The nurse, again I wish I could remember his name – Mike, maybe – came rushing in. He calmed her while I unraveled me, then he placed her on the bed, which had been padded in anticipation. We both talked to her, but she screamed and cried and continued to beat her head against the padding. Once she realized the padding was secure, she began to punch at Mike, but he took it and continued to talk to her, no more fazed than if a feather had drifted into him. Then she found the part of the bed that had not been padded. She leapt for it head first, but Mike’s hand was already there, waiting to catch her forehead. I handed him a pillow, and he caught her head with it each time she lunged. Over and over with her barbaric yell, he never flinched. After roughly ten minutes, she left her head on the pillow. Her eyes filled with water that trickled down her nose and cheeks. He continued to cradle her head until the sniffles had passed, and she had regained herself.

Everything after that moment was surprisingly easy. Child Life came in with crafts tailored to her preference and ability. Favorite Disney and Pixar cartoons ran back to back. There were sticker crafts and coloring pages and puzzles and selfies with Larry, until she finally drifted to sleep.

The sitter came in and watched over Savannah so I could sleep. I figured I wouldn’t be able to sleep, especially with a stranger sitting in the room. But maybe that’s why it was so easy. I honestly couldn’t stay awake. It may have been the strenuous drive there. It may have been the stress of the day. It may have been the knowledge that I was off duty. If Savannah woke screaming or laughing at three in the morning, there was someone to take care of it. I may have easily slept just because I could.

Of course Savannah decided to sleep an unusually typical eight hours. She woke sweetly and giggly. There were a few tears when she realized the leads were still on, but they were quickly alleviated with cuddles. We ordered muffins for breakfast (yes St. Mary’s room service even has gluten-free muffins!) and played educational matching games. The moment Savannah became anxious to leave, the nurse answered her request for a red Popsicle, and the morning continued smoothly. Nurses with Popsicles are awesome.

Savannah had just started her red Popsicle when the doctors arrived. Both EEG doctors came in for the results. They were thorough and addressed every concern, yet it didn’t take them long to deliver the news: The EEG was normal. There were no seizures haunting her dreams, and the episode had nothing to do with brain activity. Her EKG was also normal. The irregularity was confirmed as a reaction to the sedation.

Savannah looked good.

I could feel the huge sigh of relieve escape, but despair quickly filled the space. It was another non-answer.

Our Thursday appointment with Dr. R had been moved up to that afternoon. We were released by 10:00am with instructions to return at 1:00pm to meet with the great medical detective and discover which path was next.


Bowling Without a Safety Net

20140702-084843.jpg
There’s no way to know what to expect. There could be a melt down or an aggressive episode or a potty accident. On the other hand, there’s no way to know what to expect. There may be stares, judgements or ignorant words that hurt nonverbal feelings.

Every outting is a gamble. There’s no guarantee nor predictability. All I can do is consider if there’s a possibility Savannah may enjoy it and be prepared with an exit strategy.

Last night we went bowling. Not Special Olympics Bowling. Not bowling with the expectation of disabilities. Not bowling with a safety net. We went bowling. Ordinary bowling alley with ordinary kids on an ordinary Tuesday. . . Well, it was suppose to be an ordinary Tuesday. Instead, it became the Tuesday we went bowling.

Savannah’s brother is a Cub Scout, and all families were invited to bowling. All families. All parents. All siblings. And so we went.

At first Savannah was overwhelmed by the noise. We lingered in the entry way, enjoying the rubber duck collection in an arcade game. And then in happened, her brother’s den leader came over to say hi to Savannah. She visited and admired the ducks with Savannah before returning to the boys. Then the assistant troop leader came over and said hi to Savannah while trading in her shoes.

Shoes.

Once Savannah saw the bowling shoes, she was ready. Once her shoes were on, we cut through the noise and crowd and to the Scout lanes. She only bowled three frames before she was ready to leave with a large proud smile, but while there, with each throw, the Scout parents cheered. It may have only been three frames, but they were three successful frames. Three frames that taught me, we could bowl again.

There’s no way to know what to expect. There can be smiles and bravery and bowling. On the other hand, there’s no way to know what to expect. There can be acceptance and cheers and hidden blessings.


Back to Better

20130930-063141.jpg
We finally caved when Savannah’s boot breezed past my face, the heat of it tingling my lips. We drove the rest of the way home with her screaming and banging on the glass, trying to escape. She repeatedly smashed her head into the window and her fists and her knees. Fears of cops filled the gaps of the anxiety laden air. We had to make it home, but we were hours away, and had found traffic.

The next day we sat in the doctor’s office. Our regular and fantastic pediatrician was on vacation, so we were seeing his partner, Dr B, for the first time. Purples, blues, pinks and greens tainted Savannah’s beautiful fair skin. The bruises and knots and scrapes started in the center if her forehead and littered one cheekbone and her chin. They covered her arms and legs and torso, even the tips of her feet were tarnished. The deepest stains were on the sides of her hipbone, from punching herself; the tender length of the outside of her arm between the wrist and elbow, from slamming her arm on the floor, the table, the chair; and above her Achilles’ tendon, from repeated beatings into her footboard.

My bruises seemed minor only to hers. They fell across my skin, down my arms and legs and back and hips and shoulders. They were from punches and kicks and bitings. My muscles ached, and my flesh was tired. My body seemed fueled by adrenaline and fear. The fear coursed through my veins, making me jittery. What if Dr. B didn’t believe her bruises were self-inflicted? It did seem unbelievable that this beautiful little seven year old child could inflict this on herself. The fear we could be blamed was poison. I held my breath and bit my lip.

As we talked with Dr. B, it hit. A full blown, albeit short-lived, episode. She lunged and screamed and threw her head into the wall. John tried to pick her up. She scaled him, still wailing and kicking and beating and biting, until she finally passed out. The doctor turned to me. “You realize this is not normal?”

I exhaled. Dr. B understood, and the process of pediatric psychiatrists to medicate for self-abuse began.

It’s been four years. Medications have helped, although it fluctuates. There are always adjustments to be made and tolerance levels change. Some days are great, others are as difficult as before. As I sit and look and the recent bruises staining my thigh and as I ice my wrist, I remind myself it’s just one day. This used to be everyday. I cling to the hope or prayer or whatever it may be, that tomorrow is back to better and not the beginning of a decline that tells us its time to change medicines once again.


Too Many Miles

20130901-143340.jpg
Joseph and I were driving down the street, on our way to CVS, then to pick up Savannah, then to horseback riding, then to occupational therapy. It was an incredibly busy, typical Wednesday. Savannah had allowed me about four hours of sleep, and so I had picked up a toxic 20 ounce vice if classic Coke, hoping the sugar rush and caffeine might keep me awake. Besides, I was fighting off the back-to-school muck Savannah had brought home and knew the carbonated water would soothe the sandpaper coating my throat.

As we hurried down the road toward CVS, I opened the coke, releasing a sticky caffeinated geiser. It spewed over me, drenching the driver’s seat, morphing the steering wheel into a sticky mess. Joseph stared at me wide-eyed. I looked at him, his large eyes waiting for my reaction, uncertain and stunned by the carbonation that still trickled down the bottle, over my fingers, staining my thigh. I couldn’t help but laugh. Joseph began to laugh, forcing me to laugh harder and him to laugh harder, and it cyclically continued.

Since then, I’ve been reminded of our Mayo visit. Somehow, in Minnesota, every meal I managed to spill something. I don’t know if it had to do with the fact that Minnesota has amazing food or the fact I was suffocating in apprehension or just that I was food-clumsy, but every meal created more mid-west laundry.

Our Minnesota week was hard. The air was filled with the fear of what we might find. We carried the burden of entertaining the kids in a hotel room that was much too small. We lived surrounded by needles and tests and sterilization. We also lived surrounded by doctors, waiters, and strangers who were full of compassion and respect. We held the blessing of new friends and fellow patients and magic book-men. We breathed in the knowledge of some of the world’s greatest specialists.

We were trapped in a great freedom.

It is impossibly hard to be miles away from the only people searching for your answers. And yet all there is to do, is wait. Wait and take selfish advantage of every moment. The dual mitochondrial genome analysis takes six to eight weeks. I thought it was difficult to wait the few weeks for the NPC, now there are weeks more to wait. The tests can’t even be run at Mayo and have been sent off to Baylor. There’s nothing else to be done. Still, even though it’s only waiting, even though the tests aren’t even there, it’s too many miles away.


Squeals of Friendship

20130802-205336.jpg

Madeline was born six months after Savannah. My best friend, Elizabeth, and I were thrilled that our little girls would grow up together and would also be best friends.  They would roll a ball together, play tag, go to school, keep secrets, whisper about boys and first kisses and in decades sit on the couch and hold their daughters together.  They would have the benefit of having a sister, even if we had no more children, the same way we were.  Best friends, best sisters, and they would get to experience it from infancy.

The day Madeline was born, Savannah sat patiently with us in the hospital for hours. She had spent the last three months lying on Elizabeth’s stomach, feeling Madeline move. Squiggling on top of her stomach, while Madeline would squiggle below.  Reaching for Elizabeth’s bulging belly each time she saw her.  Finally, a man covered in blue scrubs headed our way. He pushed a small sterile cradle with one nicely wrapped blanket. Savannah squealed and screamed and tried to climb out of my arms toward the bundle he pushed. A little bundle of Madeline. Savannah banged on the glass and laughed, as we watched Madeline be cleaned and measured and weighed. She was re-swaddled and returned to her rectangular crib, but Savannah’s banging and giggling and striving to reach her continued.  The thrilling squeals of friendship didn’t stop until she was held next to the sleeping swaddled bundle. Savannah’s excitement was unbelievable and undeniable.

When Madeline was about two months old and Savannah eight months old, Savannah and I had our first visit to their home. Savannah tried to play with Madeline, but Madeline was only confused by her. Savannah tried to help Madeline take off her socks and gloves. Those horrible, suffocating socks and mitts that Savannah couldn’t stand to inhibit her senses. Madeline, however, loved the comfort and coziness they provided and kicked and cried each time Savannah tried to help her out of them. That evening, the girls feel asleep in our arms, as we sat and watched a movie. Elizabeth and I laughed at the irony. We had known each other for a decade, through high school parties, college parties, first kisses and late night dates. We had fought and loved together.  We had seen each other through broken hearts, marriages and home ownership.  What a different world we had entered into together. The night was perfect, as we held our daughters, drinking hot tea instead of beer. We thought it would be the first of many, but it was the first of few.

There were a few times we went to the arboretum or relaxed and played at each others houses, and of course there were birthday parties. But it wasn’t near what it should have been. We were busy with life. The life we hoped to share together began to keep us apart.

Savannah didn’t develop like Madeline.  At seventeen months, Savannah stopped talking and refused to eat.  By twenty-two months she was receiving services.  At that time Madeline was sixteen months old.  Madeline was playing tag and rolling balls and eating everything she could reach.  Savannah spent her mornings in therapies.  Madeline spent her mornings making friends at day care.

Elizabeth and I have known each other over two decades.  We live worlds apart, but have never been closer.  Living in different states, we text multiple times a week, keeping regular conversations. We do visit, but not as much as we would like. We have been through divorces and affairs and family deaths together. We love each other’s children, life family, and our children have learned that love from us.  We are family, despite blood and distance.  But Savannah can’t play with Madeline the way she once could. The desire is there, but so is the disability. Madeline can talk and cook and bathe herself.  She enjoys music and TV shows that aren’t preschool motivated. There is a world of difference between them. A world that’s hard to explain to a ten year old. A world that is hard to explain to anyone. Honestly, Madeline is confused by Savannah and understandably so. Fortunately, Savannah has yet to notice. She has only noticed the love.

Even though the girls adore each other, and a vibrating excitement drips from Savannah each time Madeline visits, it isn’t like we thought. It isn’t picnics and lipgloss and cupcakes. I dream about that distant idealistic night, watching a movie and holding our sleeping daughters, and I know for one moment, it was perfect.


Breathing Deeply

20130731-234444.jpg
Week three came and went. Week four came and went. We sat in the middle of week five.

Dr. R had carefully explained the NPC test. It takes roughly three weeks for the biopsied cells to be ready for the test. The test itself doesn’t take long. The cells are put through a machine, and then run through again. It would be three to four weeks for us to receive results. If there were any “red flags,” then the test could take longer. Each red flag would be run again by hand, twice, and that would take more time. Everything with NPC is tested twice. They must always be certain before they give an answer.

The biopsy was taken June 24th. July 10th, we received notice that the test had begun. On July 31st, the middle of week five, we were still waiting. Visions of red flags haunted us all. Friends had sent texts. Family had called and called again. Everyone was anxious. Everyone knew the answer should be back, unless there were red flags.

Tonight, we checked the portal, as has become the evening ritual. The letters were solid and blue and firm. I was afraid they’d fade before me. A paragraph of medical jargon, summed up with, “These observations are not consistent with a diagnosis of Niemann-Pick Type C disease.”

I waited, and when the letters didn’t fade, I breathed. I took a deep breath, letting the air fill me. It tasted sweet and crisp and light. It tasted of relief, and I took another breath.


%d bloggers like this: