Wednesday, April 2, 2014

Holding Pattern

Where do I begin?  I’m tired.  Emotionally drained.  It’s been 7 months of meeting with specialists and getting a list of symptoms, but no underlying cause.  My sister-in-law stated it beautifully to me, “Not having an answer for problems is heart breaking and often grieved in private.”   And I do grieve.  But I also rejoice.  It’s such a tangled web of emotions.




To recap:
At 2 months, Addy was referred to a neurologist for hypertonia.  We also met with an Opthamologist who told us she has Anisocoria.
At 3 months, we met with a neurologist who told me she had a form of Cerebral Palsy.
At 4 months, we got the MRI results that were clear, but no explanations for these other issues.
At 5 months, we met with an ENT and pulmonologist who told us Addy has Laryngomalacia.
At 6 months, we have a swallow study and learn she’s partially aspirating when taking her bottles.
At 7-8 months, we breathe a little bit.   She’s sitting up on her own and doing well. 
And here we are at 9 months.

If you've missed any parts of the story, you can read here:
Redefining Perfect, Part 1 
and Part 2.
Don't Be Sorry For Me, I'm Blessed,
Miracles Do Happen, 
Laryn-go What?,
and When You Just Don't Know.

We were referred to an endocrinologist at Addyson’s 9 month check-up because of “short stature.”  Little miss is in the 1st percentile for height, and 75th percentile for weight, making her slightly overweight.  She’s a precious chubby little thing.  The doctor was suspecting a thyroid or growth hormone issue.  The endocrinologist agreed and tests were ordered for thyroid, growth hormone and a chromosome analysis to rule out Turner Syndrome.  The endocrinologist almost didn't order the chromosome analysis because none of us are seeing anything that looks like Turner Syndrome, other than her height (or lack thereof!).
Two weeks.  Two long weeks of waiting for lab results.  I was especially concerned about the possibility of her having hypothyroidism.  That used to be the leading cause of intellectual disabilities in children before mandatory screenings were initiated.  Addy’s hospital screening was just fine.  Apparently you are supposed to have a second screening a couple weeks later.  I didn't remember anything about it 2 weeks postpartum and the doctor’s office never mentioned it, so we didn't get that done.  I wish someone would have explained the need for that—I’m certain it wouldn't have been forgotten had I known the importance of it.  I agonized over that for 14 days.  I just thought to myself, “what if I could have prevented serious issues?”  So, here’s my advice to parents:  don’t skip that.  And here’s my advice to doctors:  remind your sleep-deprived, emotional moms and explain why it’s important.  You think 2 weeks to wait isn't long, but when you're staring at the phone, waiting for the doctor’s office to call every hour, it seems like an eternity.

Finally, the phone rings and the nurse from the endocrinologist’s office greets me.  I held my breath.  I breathed a huge sigh of relief when I heard her say that the thyroid and growth hormones were all normal.  Oh my goodness, it was sweet release.  It didn't last very long.  The nurse kept talking.  She said that there was a slight abnormality on the chromosomal testing.  It’s called at balanced translocation.  She explained it as two chromosomes got stuck together.  She continued to tell me that this doesn’t normally cause any issues in the patient.  She proceeded to let me know that we are being referred to a geneticist.  She says it's not urgent, but will be important in Addy’s future.



So, what exactly is a balanced reciprocal translocation?  Basically it means that in Addy’s case, chromosome 9 and 10 met at p22 and q24, broke and swapped places.  We are being referred to genetics because sometimes, more in the case of unbalanced translocations, the genes near the break sites could have been deleted or duplicated, which would cause a variety of problems, all depending on which genes are affected.   It could be that either John or I already have a translocation and that’s what caused this.  However, translocations also happen randomly when the embryo is being formed.  One of the hardest things to swallow right now is that even if this translocation doesn’t affect her development—meaning there’s no gene disruption (as suspected)—she will have fertility problems.  She will be at high risk of miscarrying or conceiving a child with special needs.  That breaks my heart.  I know there are other options for her to have children if she wants to.  But to know that one day, when she’s much older, I will have to sit down with her and explain to her that having her own children isn’t advised.  That one cuts right to the heart.

And of course, I am assuming that she will be of the mental capacity to have children.  In the back of my mind, it’s foolish not to consider that Addyson may have some form of developmental delay.  Granted, she is meeting all of her milestones in the recommended time frame currently, but we still have a long way to go and the next few months/years will be very telling.   As of now, Addy can roll over, sit unassisted, is beginning to try to pull herself up, scoots across the floor on her bottom, and can stay on her hands and knees for an extended period of time.  She is not crawling at this point—but my son didn’t crawl until 10-11 months and walk until 14 months and he is perfectly on target.  She babbles—imitating sounds and her favorite “words” are dada and bubba.  She goes through talking spurts—she babbles less when she’s making great physical gains.  She smiles at you, looks at you when you call her name, and absolutely is crazy about her older brother and laughs anytime he comes to play with her.  She has a very laid-back personality whereas her brother’s personality is over the top.  But she has an attitude, that’s for sure!   She will glare at you, swat at you, or “scream” at you if you are making her mad or making her work too hard.  She’s the most stubborn little girl and I love it.



I’m so grateful to be her mother, as tiresome as it can be.  I just want answers, and to some extent, I have to accept that I may or may not get any.  So, we are still in a holding pattern.  Our genetic consultation appointment isn't scheduled until August, unless there’s a cancellation before then.  The actual testing and results could take weeks to months to get back. 

So we wait and watch.   I’m so glad that I have my faith to rely on and not just doctors and science.  They can look at her brain and her genetic makeup to make predictions and assumptions.  But God made her—he knows her.   I go back to being told she wasn't going to meet the milestones that she’s already met and I smile knowing that God’s got a plan for her.

Psalm 139:13-16
“For you created her inmost being; you knit her together in my womb.  I praise you because she is fearfully and wonderfully made; your works are wonderful, I know that full well.  Her frame was not hidden from you when she was in the secret place, when she was woven together in the depths of the earth.  Your eyes saw her unformed body; all the days ordained for her were written in your book before one of them came to be.”


72 comments:

  1. I read your story! I also like your recipes :) I can only imagine how it feels to go through all that. I have lost a child and I believe that is very different in comparison to not knowing what's going on with your child. I am sending you all the best wishes and strength to go through all this. Thanks for posting.

    ReplyDelete
  2. Sweet Momma, as a mother of a 12 year old daughter with CP AND a genetic condition, let me tell you two things. First, waiting to see what your beautiful girl will have to face is awful. It's hard, it's a powerless feeling, and it's not what any mother imagines for their child. That being said, let me also tell you that it will be okay and she will be okay. She will never know another way. My daughter can't do many things, including speak, walk, chew. She is happy. She is healthy. She is perfect. So remember that as you wait and worry. She is perfectly made. Her life may be different than you imagined, but it will be happy, full, and she is loved like no other. Hang in there Momma. Know others understand. Know you are not alone, even when it feels that way.

    ReplyDelete
  3. Prayers for you and your family. Thank you for sharing your story.

    ReplyDelete

So glad you stopped by! I'd love to hear your thoughts!

Related Posts Plugin for WordPress, Blogger...