Tuesday, April 26, 2016

Luna's story-Part 1-Waiting Is the Hardest Part

    Luna has had some challenges in her little life. She was born unable to eat, suck, swallow, or even open her mouth in response to touch. We spent weeks learning how to feed together. She was born a normal size, but immediately began losing weight. Her first months were a long, exhausting blur of pumps, bottles, nipple shields, feeding alarms and weight checks. 

   Eventually, she began to eat solid food and feed herself. For 7 months all she did was eat and sleep. But she did not grow. At 7 months, she weighed 14 pounds. At 14 months, she still weighed 14 pounds. In spite of massive quantities of high calorie foods - approximately 2000 calories a day, the recommended amount for a large, active man, 4 times the amount normally consumed by a toddler- she did not grow.

   All this while, she has been sweet and calm, and happy, and very, very reserved. She sleeps well, smiles often, laughs at her brothers, gives plentiful kisses and hugs. She sits quietly, and...that's about it.

    I began to notice that she did not crawl. Did not pull to stand. Didn't sit up on her own for long. She tires easily and seems to lack energy. During her months long eating binge, she did not play, rarely left her Bumbo seat, and generally didn't do very much.

   We found her a new care provider in our tiny town. There is no doctor here. The rest of the family is treated by Physician's Assistants. Her PA was not comfortable with her size and while her development seemed OK, it wasn't super reassuring. He sent her to a pediatrician in the small, nearby city.

  The pediatrician ran some lab work. The first of many blood tests. Her growth hormone was low, so we went to an endocrinologist. Her eyes had started to cross sometimes, indicating that she was not seeing well in one or both. We also went to an opthamologist.

  The Endocrinologist suspected Turner's syndrome, or Pituitary Dwarfism. He tested for both and an assortment of metabolic disorders that he mercifully did not discuss with me. 

  One by one, we have ruled out disorder after disorder. The list is too long for me to remember. I felt certain that she had Pituitary dwarfism, a relatively benign, treatable, non-life-threatening, non-life-limiting, painless growth hormone deficiency.

   The results came back on the lower side of normal. Not low enough to explain why, at 15 months, she is just nudging the first percentile for both height and weight. Not low enough to explain why she nww weighed only 16 pounds and had grown one inch in 3 months.

   The last round of tests, the ones I hoped not to need, are complicated, expensive genetic tests. After agonizing, researching, and agonizing some more, I brought her to Children's Hospital again for this last, terrifying array of tests. Now we have a month to wait for results.

   As the other babies Luna's age have been learning to stand and walk and crawl, Luna does none of those things. She can now sit unassisted for a good stretch of time. She has an odd, one handed scoot that she uses to get around. She can pull to a stand, and take a few steps with support. 

   She was diagnosed with severe hyperopia (farsightedness). She has tiny glasses. I will do another post on her saga with learning to see.

   She has failed two developmental screenings. Today she was evaluated by Early Intervention and qualified for services. We should hear soon what kind of therapies she will be offered.

  A few other concerns have come up. I will discuss them with her pediatrician, and we will have more referrals, I'm sure. For now, we wait.