I wasn’t planning on updating the blog until at least Monday, when Matthew has his next pediatrician appointment, as we’ve just been “enjoying” the typical newborn issues since we got home on Tuesday evening. Matthew is a lazy eater and has his days and nights a little mixed up. We’ve experienced this before so it’s not unexpected. Alyssa and Jackson have settled back into their routine and are enjoying having their little brother home. We are getting used to being the Hoy House- family of 5.
We had indicated in our previous postings that we were very hopeful that Matthew’s known physical uniquenesses were all we would be dealing with long term. Today we are mourning the loss of that hope. We received a message from our pediatrician, Dr. Belinoski, last night that the genetics folks found a rare anomaly on the chromosome testing. Matthew has a 4Q chromosome duplication. The genetics team is doing more tests and would like to do blood draws on Darren and me to see if we are carriers of this same anomaly (indicating that this may be a recessive trait). According to Dr. Bel, the genetics team wanted to emphasize that this is not the final diagnosis and may or may not be the answer to Matthew’s uniquenesses.
So, we started searching the internet on 4Q chromosome duplications and were not encouraged by what we found. I’m not sure how this couldn’t be the final diagnosis. Matthew exhibits many of the known symptoms like the malformed ears, the offset jaw, the heart abnormality, etc. Besides our list of known uniquenesses we uncovered during our stay at TCH, there is a very scary laundry list of other symptoms that may result from this duplication. The scariest to us are growth and mental retardation. It does sound as though the severity of the symptoms depends on the amount of duplication, which we don’t know at this time. Now we wait for the further tests and the passage of time.
Those that know me know that I’m a planner. I have 3 calendars: one monthly for the big events, one weekly for meal planning and family activities and one daily for my daily to-do list. I start planning vacations months, sometimes years, in advance. Right now, I can’t plan or imagine what our future looks like and although logically I know that God has a plan for us, in my heart I’m scared. I’ve always struggled with 'letting go and letting God'. We now have the opportunity to work on that … moment by moment.
I keep going back to the fact that all of our futures are unknown. Our family and friends have encountered a lot of the unexpected throughout their lives … cancer, autism, degenerative brain diseases, death. The courage and strength exhibited during their journeys propel us forward, to know that we are not alone in the unknown and unexpected. I know we’ll come out on the other side of this … no matter the final diagnosis and Matthew’s uniqueness.
Today, we are prayerful that the duplication is small, that the symptoms are not severe, and whatever the outcome we have the strength and resolve to thrive with God’s gift to us and to take life moment by moment. We continue to appreciate the prayers and positive thoughts!