Miracles

My cousin Denise shared an article her cousin had written about his brother and sister-in-law and their everyday struggles raising two boys, now young men, with Fragile X syndrome.  I thought the story was beautifully written, tragic and heartbreaking, and yet at the same time uplifting.  I think it is something that everyone should read, and I hope you will.  As a mother myself, I know there is nothing more powerful than the unconditional love you have for your children, no matter what struggles and challenges they may face in life. The Callahan family is a perfect example.

Five years ago, I thought my life would turn out very similarly to theirs. When Cathy was four months old, we learned that her head circumference (and therefore her brain) was growing slower than it should. A month later, as I held her in my arms, she had the first of eight seizures that terrified me and broke my heart. We took Cathy to The Children's Hospital of Philadelphia for neurology care - EEGs, a CT scan, MRI, and metabolic testing told us nothing an so we were referred to their clinical genetics group, the prevailing belief that whatever caused Cathy's microcephaly (small head) and seizure disorder must have a genetic cause.

I was sure that when we walked into the Clinical Genetics office, they would look at Cathy and immediately tell me what was wrong with her, what we could do for her, and what sort of outcomes we could expect. They couldn't.  Cathy's history was suggestive of disorders such as Angleman and Rett syndrome, both of which are terribly debilitating. Cathy was tested for these two specific disorders. The geneticist also ordered a SignatureChip assay that could diagnose hundreds of known chromosomal abnormalities (detecting the slightest additions or deletions to each chromosome). We quickly learned that Cathy has a deletion on the top of her 10th chromosome, something that she and I share and that is likely meaningless.  After this initial call, there was nothing left to do but wait.  Seems it takes quite a long time to run the tests for both Angleman and Rett - months.  Three long months. Three of the longest months I have ever known.

My nursing background, coupled with easy access to the Internet, was nothing but a curse. I spent weeks combing various websites, learning everything I could about these syndromes. If this was the card that my family was dealt, I wanted to know how to play it. I could so easily relate to the Callahan's concerns for their grown sons because they echoed the concerns I had: what sacrifices would my family need to make in order to take care of my little girl? Who would care for her when my husband and I were no longer able? What would be fair to expect of Matt? And what would he be willing to do?

When the results finally came back, they were negative. Angleman was definitive but Rett could only be ruled out with 90% accuracy. And so I spent much of the next three years alert for and afraid of the tell-tale regression in skills that is typical in girls with Rett syndrome before their 3rd birthday.  They never came.

Instead, I was left to reflect back on the words the geneticist said to us as we left her office that January day in 2007, my sweet nine-month old little girl in my arms: "Cathy will be your guide".  When she said it, I was dumbfounded - how could this woman be considered one of the leading geneticists in the world and have such a lame answer for us? Rich thought it was brilliant - without expectations, we could let Cathy grow and develop and be who she was going to be.

For a long time, I wanted answers.  I needed answers.  But over time, I could see that maybe that doctor wasn't so dumb after all and I have long ago made my peace with the knowledge that we will likely never know what went wrong.

After that genetics visit, we enlisted our county early intervention services: we were told that whatever Cathy achieved in life, she would likely need to work harder for it than other kids. While she aged out of some services in the transition to the preschool early intervention program (which has different eligibility requirements than the birth to three program), she continued to receive weekly speech therapy. We also took advantage of a great program offered through Penn State's Department of Communication Sciences and Disorders; their Early Language Group met twice each week during the fall, spring, and summer semesters, providing a 2:1 ratio between children and graduate level speech pathology students.

Because Cathy was receiving early intervention speech services, she was required to have a speech evaluation before her 5th birthday. We asked that a developmental teacher complete a full assessment; Rich and I wanted to know how best to prepare Cathy for the transition to kindergarten and to be sure to get the school district therapists involved in that planning now rather than wait until after the school year had started.

When the testing was complete, we got the best possible news... the kind that makes you believe in miracles, that makes you realize that whatever went wrong didn't matter because everything that really mattered went right.  Cathy is the sweetest girl.  She is thoughtful and funny.  I think about all the things that kids entering kindergarten are expected to know - colors, animals, counting, letters, letter sounds. She knows them all.  She writes her letters, recognizes some basic sight words, she asks lots of questions.

And while it shouldn't have come as a surprise, I was still surprised and thrilled when Cathy did not test as being delayed in any area; her test scores ranging between the 45th and 50th percentile for kids her age, her IQ score at 101. She's perfectly average.  But at the same time she is exceptional and I am blessed to have her in my life.

I often think back to my darkest days in the fall of 2006, of the overwhelming fear of the unknown. Even now, I sometimes wonder if her life had turned out differently, if I would have handled it with the grace and dignity of the Callahan family. Instead, I am planning to send Cathy to school this fall in a mainstream kindergarten class and without the need for special services (though her IEP will stretch into the early part of the school year should we need it).

I never would have thought this possible five years ago and I am grateful for all the therapists, teachers, and doctors that have helped give my little girl the chance to grow into the wonderful person she is becoming. I find myself imagining what she will be like as a teenager; I wonder where she'll work one day; I picture her as a wife and mother.

Of all the things in my life, I'd be hard pressed to find something else that makes me as happy.