Solving a puzzle

Friday morning the sun rose, proud and bright, and we all were anxious and excited. After weeks of hopeful anticipation and worry over Teenie Bird and a potential diagnosis, our little family made a two-hour trek into Chicago March 11th, to visit with a geneticist at a hospital there.

Teenie Bird's pediatrician had previously recommended she undergo further testing, including an EEG, which she had at a hospital in December, to determine if and why she was having her staring spells. The second test was a chromosomal study of chromosomes 12 through 22, to determine if there were any abnormalities, the information of which was obtained through a blood test. The chromosomal study was the test that sent us to the geneticist's door, in the hopes he might have some further information for us.

Next week, we visit with the chief of neurology at another hospital, to see if he can provide us with more information about her staring spells and hopefully, her vision, which seems to come and go.

The geneticist and his assistant, a genetic counselor, were tremendously kind, professional and very thorough in asking us questions about Teenie Bird, and the genetic history of each of our families.

We both found it to be tremendously interesting and complex as we traveled through the line of questioning to determine what could be going on with our darling, little daughter. I was strangely pleased when the geneticist looked at Teenie Bird sitting on the floor playing with her shoes and ankle braces and said, "It's clear to me she has some form of hypotonia," the one diagnosis we've been waiting to hear for over a year, and yet the discoveries just kept coming.

We were well into the line of questioning when I mentioned that I am positive for Malignant Hyperthermia (MH), an allergic reaction to certain anesthetics. This is a hereditary condition, which both my brother, Jason, and I, it is believed, obtained through our biological father. My Mom and Dad learned Jason was positive for MH when Jason suffered a reaction to a combination of drugs used in the anesthesia he received during an operation. Meanwhile, I was tested for MH through a muscle biopsy done on my leg when I was 11.

Once the discussion turned towards MH, the geneticist and the genetic counselor zeroed on it and the conversation took an amazing turn.

Unknown to me and my family, we learned there are different forms of MH an individual can have, which can have a profound effect on an individual, and not just in an operating room. Certain strains of MH, in combination with a disease called Central Core Disease (CCD), can cause developmental delays in the muscles making crawling, walking, and standing more difficult, and can cause a sensation in children where their limbs have a "floppy" feeling to them, all symptoms we've seen in Teenie Bird.

The geneticist informed us that some individuals can go through life without even knowing they have MH or CCD and that generally the life expectancy of individuals with this condition are normal. On the other hand, some individuals can suffer more dangerous symptoms.

The doctor said people who have this condition can suffer from muscle aches and pains in the proximal region of the body (thighs, hips, and arms), and can suffer shortness of breath or difficulty breathing after strenuous exercise.

Suddenly, my mind began to wander back through the years of my life- the 16 or so years I have suffered from muscle aches in my legs, arms and joints, which have limited my mobility and have often forced me to retreat under a blanket and a cloak of Tylenol, when I would rather have gone for a walk. Or  my sophomore year in high school when I was rushed to the emergency room, because I couldn't breathe or stand, after running the 400 meters at a track meet during one of the most physically fit times of my life. I was placed on oxygen and a visit to my doctor the following day could turn up no cause as to why I experienced this inability to calm my own heart rate or control my breathing.

Now these symptoms in and of themselves are not unusual following exercise, but when placed together with MH and my daughter's muscle delays, it felt as if this doctor had suddenly placed a puzzle before us to which we had unknowingly had the pieces to all along.

He recommended we do a bone age scan of Teenie Bird's tiny hands, to determine the rate at which her bones were growing, as well as a blood test to look at her thyroid and other things associated with MH. They were also interested in obtaining my medical records from when I had my muscle biopsy to see if the doctors then determined what strain of MH I have, and if necessary, a blood test on me to get a better look at my own condition.

"Of course," I said. "Whatever you need to do, whatever is necessary to help our daughter, I'll do it." Of course, I said this in the heat of the moment, without thinking of cost or to what lengths our insurance will cover these procedures, but even now that I've had a moment to collect my thoughts, 'whatever it takes' for me still means whatever it takes.


Following our lengthy and seemingly miraculous visit with the doctor, we waited some 40 minutes for her x-ray, at which point Teenie Bird's patience had run dry. While we waited, she and I decided to go for a walk up and down the bright hallways and across a sort of enclosed gangway with windows from floor to ceiling, which overlooked a busy roadway below. I walked behind her and she marched up and down, wagging her shoulders, her hips, pumping her arms, her pigtails bouncing with every step. As she meandered her way through the crowd, a big smile on her face, it was in this moment that I experienced another wave of unexpected joy over her. I looked at all the faces of the people passing by, doctors busily talking on their phones or amongst each other, rushing to their jobs or out to lunch, and I honestly couldn't tell you how many people stopped to smile at her, to laugh, to coo over her, to tell me how cute and adorable she was.

We passed one man who smiled ear to ear every time she went by, slapped his knee and laughed heartily at her proud walk down the hallway.

"Well, would you look at her!" he said. "She is just on a mission!"

She was simply in her own world, but it was then that I realized what an important role this child has played, the profound effect this little being, whose been in this world a mere two years, has on the people around her. It was so amazing to see- people young and old, male and female, different races and ethnicities, from one end of the economic scale to the other, all derived happiness from her joy. She brightened peoples lives just by being there, and we should feel so blessed that we are first-hand witnesses to her ministry, which I know sounds presumptuous of me to say, but that is simply the best word to describe it. Teenie Bird's joyful, childlike, innocent ministry to bring a smile to people's faces.

She brought her joy into the x-ray room where she willingly and gladly mirrored my actions by placing her two tiny hands on the x-ray table, into the light of the machine, which the technician quickly followed by snapping a 'picture' of her hands.

"You are awesome," the technician said to her. "You are so cute. You deserve a sticker," at which point, she popped out of the room for a moment and returned with two stickers for Teenie Bird.

Teenie Bird points to her "I had an X-ray" sticker

We continued on our journey to the fourth floor to have some blood drawn. I knew this part of our visit could spell trouble, since not three weeks before she had some blood drawn at an area hospital close to our home and the phlebotomists there were unsuccessful in drawing a sufficient amount of blood. They had to move the needle around in her left arm, before switching to her right arm to finish filling the vials. It was not a pleasant visit and many tears were involved with that episode.

While we waited in phlebotomy for her name to be called, Teenie Bird threw her third mini-fit of the day, derived from exhaustion, hunger and I'm sure, unknowing dread at what more could lie ahead of her in this marathon day of discoveries. Through her tears she let me console her by pointing out another little sick girl sitting across the aisle from us with her Mother, and when they were finished and were readying themselves to leave, Teenie Bird brightened again and yelled out to the strangers, the tears still drying on her face, "Bye people!" with a big exaggerated wave over her head. They chuckled, smiled and waved goodbye to her. And so more people were given a tiny bit of joy on what must have been for them too, a difficult day.

After being led back to a tiny room, I knew immediately when she knew what was coming her way, as she bucked and scrambled in my arms when I wrapped my own legs around hers (a bit difficult and awkward to do in a knee length skirt), and my arms around her other arm and torso, sufficiently strapping her down with my own body as they drew blood. Her screams and tears tore at my heart, as did her ignorance in not understanding what was happening and how her own Mother could play a role in letting a strange man (who happened to have a nearly indistinguishable Jamaican accent) touch her and hurt her. Thankfully, the man knew what he was doing and got the job done on the first try and we were out of there like a shot.

All the way home David and I jabbered on like monkeys to each other, and then to our respective Mothers via phone, about all the things we learned, and how amazed we were that this puzzle had sat before us for so long without us being able to figure it out.

Teenie Bird struggled in the car, through exhaustion and impatience, forcing me to pull out all my bag of tricks to entertain her- including giving her scraps of paper, the drink tray from Wendy's, and smelling her admittedly very stinky bare feet.

That evening as I was checking my email and reading the horrible news following the earthquake and tsunami in Japan, I found I had received an alert from a blog page for Mother's with children who have hypotonia.

This mother, Stacey, said she had a 17-month-old daughter with hypotonia and has experienced the same symptoms as our own daughter. "I just read your post with regards to some of the visual issues your daughter is having. You mentioned that sometimes it doesn't seem as though she is seeing you,"she wrote.

She went on to say that her daughter's opthamologist had tentatively diagnosed her daughter with cortical visual impairment, meaning her eyes respond appropriately to stimuli, but that her brain may not be receiving the message correctly, so she doesn't always "see" even though her pupils may respond to light. This translates to what can best be described as "inconsistent blindness".

On three different visits I was told by an optometrist that my daughter's vision was fine, she could see, and anything going on with her eyes would resolve on its own, despite my insisting that something wasn't right.

Of all days to respond to my inquiries, this mother, Stacey, responded Friday. What makes this more amazing? I wrote my initial post February 23, 2010, over a year ago, and she responded at the end of an already amazing day for our family. I believe in signs, I believe things happen for a reason, and this is another example of some higher power working in our lives.

Given that the geneticist had already recommended we visit with a pediatric opthamologist, we can now go armed with this new bit of information provided by a fellow mother, also working in the trenches of raising a special needs child. Given all of these things, we have such hope for Teenie Bird's future, and we can now calm ourselves knowing the future of any other children we may be so blessed to welcome in our lives, can also be as bright as hers.

Celebrating our doctor visit with ice cream!

Happy to be home once more in our Pjs, 

playing with Momma's scarf