Diagnosis Does Not Equal Prognosis

One of our friends asked “How filtered is your blog?” To which our response is…”not very.” We are posting our thoughts, findings, feelings, the good, and the bad. This past 2 weeks and two days have been a roller coaster ride of wonderful and beautiful and scary and unknown. Thankfully with each dark day, we have come to see light. Thank you for following and supporting us through this time.

After the news from our pediatrician on Friday night and the brief internet search that netted us vague and scary information, we spent the weekend vacillating between scared and totally in the moment. Thankfully, you can’t really spend too much time thinking about the future when caring for a 2 week old and 2 preschoolers. Matthew is a typical newborn…the unknowns are not a concern in the immediate. Right now, he sleeps, eats, poops and for a few minutes every few hours, he opens his eyes and takes in the world. He’s cute, squishy, and warm in my arms.

Besides being in the moment, a few other things happened since Friday to bring the light to the dark. First, one of my dear friends sent beautiful words of encouragement. In her note, there was a link to an article that led me to an organization called “Unique: The Rare Chromosome Disorder Group”. On the Unique website, there was a 20 page article on 4Q chromosome duplication. The sample size is small, but it was great to get more information. There appears to be great variability in the symptoms of 4Q duplication. Even twins w/the same duplication exhibit different symptoms. It was a little surreal to read about the 4Q duplication baby—who has a hard time eating, eats with a preemie bottle and sleeps a lot. Sounds just like Matthew. Knowledge is power!

Another piece of light has been Charlotte and her experiences w/her daughter Claire. Her words and experiences have been comforting during this time. I’m thankful to have someone who has spent the last few years in Holland to reach out to. Her words reminding us that diagnosis does not equal prognosis were powerful!

This morning was our 2 week well baby visit with our pediatrician. She was very pleased with Matthew’s weight gain and said he looks great and healthy. Dr. Bel indicated, as we expected, that much of Matthew’s prognosis will be figured out over time. We’ll continue to monitor and work the interventions to make sure that he thrives with his known (and yet unknown) uniquenesses.

We also received a call from genetics while I was drafting this post. They have the results of tests that indicate which parts of the 4Q chromosome is duplicated (4q21.1-4q31.3), which should help determine diagnosis. We have a follow up appointment with them this Thursday at 11am. So, more to come later this week.

Thank you for the continued prayers, positive thoughts, and words of support!