I have thought about writing this blog post for months. I haven't known when was the right time for me to "let it all out." I also haven't wanted to broadcast it to the "whole world," as if I have hundreds of followers. But it has started to feel like the right time to open up about it and let myself vent the frustrations and excitements the last few months have brought.
It all began with Lucy's one-year-old doctor visit. Ben and I nonchalantly filled out the "Ages and Stages Questionnaire" that asks questions and basic tasks of a typical kid that age. It seemed Lucy wasn't scoring very high on the test but I didn't think too much of it. I brought the paper to our appointment and had a fairly normal visit. At the end of the visit Lucy's doctor mentioned that she scored really low on all three categories for her age questionnaire. She did not meet the minimum score for communication, fine, or gross motor. Because of this she said she would refer Lucy to enroll in Early Intervention. I had heard of this before but was a little weary of her quick reference. She explained the program to me a little bit and I agreed to call and look into it. Lucy's doctor walked out of the room and we waited for the nurse to come back in with her routine immunization shots. A few minutes later the doctor herself came back in the room. She said she had been thinking and wondered if I had done any testing when I was pregnant with Lucy. I didn't know what she was referring to and was confused by her question and return to the room. She continued explaining how she was concerned about Lucy's really low test scores and has noticed her widely spaced eyes and epicanthic eye folds. She then went on to say, "I wonder if Lucy might have Down Syndrome."
I'm pretty sure my heart stopped beating for a second and I felt sick to my stomach. What did she just say?? Where in the world was this coming from and how could that be?? I remained fairly calm with Lucy and William in the room as she asked me if I would want to do any testing to find out. The rest of the conversation is kind of a blur but she told me to call her back soon with my decision.
That day was also a blur. I couldn't think clearly and was boggled by the potential outcome. A few days later I was on a one year waiting list to see a geneticist at the Universiy of Utah, the only pediatric geneticists in the state of Utah. A few days later they were really proud of themselves for bumping my appointment up from next year to July 13th (It was now early February). I couldn't fathom waiting that long wondering if Lucy had Down Syndrome or not. I would go back and forth every other day, or hour, debating whether I thought she did have Mosaic Down Syndrome or not. I looked into seeing a geneticist in Arizona instead, but the doctors wouldn't let it happen. So there we "sat" and waited until July to see the geneticist.
On Thursday, February 18th, we had a miracle. I had a missed call from the U of U medical genetics division. I quickly called the number back and the lady said they had an opening for the upcoming Monday morning at 9:45. I was completely shocked and tried to stay calm as I accepted the appointment and was given instructions on what to bring and where they were located.
Monday morning came and we barely made it (thanks to Utah I-15 traffic) to the Primary Children's Outpatient Clinic across the street from the hospital. The facility was new, modern and bright colored. William ended up coming with us and he didn't want to leave the waiting room. The nurse called us back shortly after we arrived, around 10 am, and got Lucy's vitals. We then sat in the room waiting until 10:45 for the geneticist doctor, Sarah Dugan, to arrive. Another nurse came in and took a picture of Lucy's face and one of both of her ears.
Doctor Dugan finally came in, apologizing for herself running behind schedule. I brought Lucy's monthly pictures from age 0-12 months and her assessment results from the early intervention facilitators. I rambled a bunch of random facts about Lucy and how her potential "diagnosis" went up to that point. I told her about her eyelid possibly being droopy and she said it looked a little thicker than the other eyelid. Dr. Dugan said she does have the wide, flat nasal bridge and extra skin fold on the inner corner of her eyes as well as slightly upward slanting eyes. Dr. Dugan wasn't worried about her drooling but was concerned about her strong preference of her left hand this early in life (around 10 months). Apparently babies don't usually show a preference until later on around 18-24 months. Dr. D asked Ben and me about our family lineage and parents/siblings. She also asked about my pregnancy and delivery, but everything was completely normal with them both. Dr. D. didn't watch her crawl or look in her ears but felt her legs, back, head and mouth. I mentioned her hearing test we did last week (her right ear was fine but her left ear's results came back negative). She was interested to find out the results when we retest her left ear in a few weeks.
Doctor Dugan was very nice and thorough. I didn't feel rushed but she continued to ask questions as I added in more information that I thought relevant. She mentioned that she didn't see all the markings for Down Syndrome and would be surprised if she did have it. She mentioned a few other possible culprits, fragile x syndrome (she thought probably was not) and Stickler syndrome possibly. Dr. D. said that she recommended having Lucy do a micro-array test, get a swab of her cheek and see if down syndrome is in fact there (or anything else). They did the test right there in the office and it was simple and painless. Then we were supposed to keep watching Lucy's progress and see how she is doing in a few months. If there wasn't anything alarming in the test results then she wanted to see us back in five months. At that time she might order an MRI of Lucy's brain to make sure nothing is going on abnormally. Dr. D also referred us to a pediatric opthamologist and we set up an appointment for May 6th to check for Lucy's near-sightedness and any other possible problems.
We drove home feeling a little bit better and happy to be moving forward. Now we just had to wait about a month to hear back the results from the micro-array test.
No comments:
Post a Comment