Thursday, March 18, 2010

Time Will Tell

We met with genetics today. As we had known, Matthew has a 4Q duplication. 4 is one of the larger chromosomes, Q is the long arm of that chromosome and Matthew’s duplication is pretty large (from 21.1-31.3). This is the result from one of the tests and we’ll get more detailed analysis (which may refine the region further) with the chromosome microray results which are due in the next few weeks.

After the microray results, Darren and I will be tested to see if this is inherited or if this is a random incident that occurred at conception. Other than that, we will have a follow up with genetics when Matthew is 1 year.

Dr Scott (the geneticist) believes that with all of the tests and poking and proding while we were in the hospital, we now know everything about Matthew’s uniquenesses that we possibly can at this point. They don’t expect to find anything new or even anything down the road that is surprising. Knowledge is power…while we know that the unknown can be scary. The blessing in disguise is that if Matthew had been born with thumbs (or not had jaundice), we wouldn’t know near what we do now.

Matthew is not unique and unique all at the same time. They estimated that 1 out of 20 births have a chromosomal disorder of some sort. But through their searches, the geneticists have only found 1 potential match to Matthew’s particular uniqueness. One is not a big enough sample size to extrapolate symptoms/severity.

As we read in the Unique write up, there is great variability of symptoms /severity with the 4Q duplication (or any duplication for that matter). Our genes are efficient to varying degrees and the symptoms will vary depending on the efficiency of Matthew’s genes. As well, early intervention can decrease the severity of many of the symptoms (in particular learning and development delays). They do expect that Matthew will have learning and developmental delays as well as somewhat stunted growth , but only time will tell.

A few of the positives—
*Diagnosis does not equal prognosis.
*Matthew still has unlimited potential.
*Matthew’s life expectancy is no different than any of us.
*We have a diagnosis, which means we’ll have early intervention.
*Right now, it is intense with information, appts (renal, urology, ENT, cardiology, PT/OT/Speech, plastics), etc. This will slow in time.
*Time will tell.

In the weeks since Matthew rocked our world, we’ve spent a lot of time thinking, crying and talking about Matthew, his uniquenesses, and our experiences. These conversations with friends and family have kept us from feeling isolated within ourselves and have also given us a new perspective on life. For various reasons, almost everyone we know has thought they were landing in one country and ended up in another. We flew to Italy but ended up in Holland. Many others have flown to France but woke up in Spain. A few more went to Brazil and ended up in Argentina. Besides knowing we are not alone in the unexpected, it has given us hope that sooner or later, we will stop being surprised by the flight change and we’ll settle into Holland.

We are very thankful for our sweet baby Matthew. He’s the perfect (and final) addition to our family. I’d say 95% of the time we are in the moment…being the family of 5 consisting of 2 sleep deprived adults, 2 fun loving preschoolers, and 1 cute and lovable newborn (along with 2 crazy/neurotic dogs).

We are so appreciative of all of the prayers, positive thoughts, words of support, food, offers of help, shoulders to cry on, ears to bend and love shown to our family during the past few weeks. Thank you!!


  1. It seems as if Matthew has indeed chosen you as parents because he couldn't have possibly found more loving, capable parents out there!! He is in such wonderful hands, medically with his wonderful doctors and spiritually with you and your friends and family. With all the early interventions, he will thrive. Thank y'all for taking the time to post all of this. I check it daily for updates and think of the five of you often.

    -- Jennifer M.

  2. Only time will tell. We have been very lucky with our twins. The range of complications of being born at 28 weeks is pretty scary. We have been able to overcome every problem that they have had. Some took more work than others, but they are happy, healthy, growing kindergarteners with a very tired mommy. Sure, Elizabeth wears glasses and Sam has adhd, but even though these are supposedly preemie issues, they may have happened anyways. We will pray that Matthew's future although uncertain is as smooth as Sam's and Elizabeth's life has been so far.