One Month

Happy 1 Month to Matthew!

In the last few days, we’ve seen an improvement in Matthew’s eating time (instead of taking 45 mins to an hour, its typically taking about 30 mins) though today he’s back to his pokey style. We are hoping it’s a matter of 2 steps forward, one step back which would keep us on a positive trajectory.

The chromosome microray results came back a little different (q25-34.2) from the karotype (q21.1-31.3). We are awaiting genetics confirmation of which is correct. We like the microray results as the duplication is a bit smaller and closer to the tip of the chromosome, which usually results in less severe symptoms. But Matthew’s uniquenesses are what they are… knowing the exact duplication isn’t a necessity and won’t change Matthew.

Most of Matthew’s uniquenesses are ‘wait and see what develops or doesn’t develop’. The one most recognizable outward symptom of his duplication is a feature that will never develop…his lack of thumbs. Ironically that is the same symptom that helped to get him diagnosed and hooked in with early intervention before he was a month. Alyssa realized he didn’t have thumbs the day after his birth.

Alyssa “He only has 4 fingers”
Me “Yes, he doesn’t have thumbs”
Alyssa “On both hands?”
Me “Yes, on both hands”
Alyssa “Will he grow them?”
Me “No honey, he won’t grow them”
Alyssa “Oh, okay”

I know I learned a lesson from her youthful innocence. He doesn’t have thumbs, so what? Some have asked what we are thinking about doing about Matthew’s lack of thumbs. The two main options are to allow him to grow and adjust to life without thumbs and the other is a surgery that can move the index finger to a functioning thumb position. We are investigating both options.

Option 1- It’s amazing what the body does to compensate, as Matthew’s index fingers have already begun curving into a more thumb like position (as seen on his bone scan when he was days old). 1 out of 100,000 babies born are born without thumbs and are able to function. My best friend sent me this link the day after we found out about his thumbs. It shows the possibilities: http://www.youtube.com/watch?v=OyCaPaV5f9o&feature=youtube_gdata

Option 2- Medical technology is amazing as well! There is a surgery called pollicization that moves the index finger into a thumb like position, allowing the user more typical pincher abilities. This is considered a ‘common surgery’ with good results, some studies say that the pollicized thumb may have up to 75% functionality of a typical thumb. This was the first link we found after we found out about his missing thumbs: http://www.childrenshospital.org/az/Site1105/mainpageS1105P0.html and this handout has a picture of the hand post procedure http://www.brownhandcenter.com/patients/other-hand-problems/documents/22.pdf.

We will meet w/the hand surgeon in a few months to discuss the pros and cons, but these are the basic options. More to come when we find out more.

Besides the appointments and a few special considerations, Matthew is the typical one month old and we all are adjusting to life as the family with 3 kids 4 years old and under. We are continuing in our routine, enjoying the everyday and are thankful for it.

In the last month, we have moved from shock to acceptance and beyond. In those first few days, I looked at Matthew and saw his outward uniquenesses (like his lack of thumbs). I wondered how long it would take for me to not notice them, to just see him. I can say…sometime between then and now . I don’t know when it happened, but it has. He’s just Matthew. The cute, squishy, baby boy.

I’m still awed at how far we’ve come in this month. We know the prayers and positive thoughts have worked…we have found a network, felt loved and supported, become more knowledgeable, changed our outlook on life, etc. God is good! Thank you!!

Routine

About 2 weeks after our hospital stay, I think we are getting into a routine. Darren’s back at work full time and tonight he started back with his church activities. We spend a great deal of our time feeding Matthew (approx 7 hours a day) but we are finally doing other things as well, like going to the weekly fish fry at church, spending time with friends, running errands, doing laundry, etc. It does take us a while to get our act together to get out of the house, but we are starting to adjust to life with the newborn.

Since our last update, Matthew had an evaluation with occupational therapy. We worked on his eating (pokey), wrists (he holds them at an unnatural position), and hearing directionality (to adjust to his hearing loss on his left side). The occupational therapist was pleased with many of his other developmental milestones… he keeps his hands at midline, he puts his hands to his mouth, on his tummy he lifts his head and moves it back and forth. We will continue w/OT most likely weekly and we hope to improve on those things that are a challenge for him and celebrate those that come easier as well as those that he works on.

As we heard from the geneticist and also from some of our friends who have children with various uniquenesses, we know that early intervention is imperative. We are intending to utilize private services (OT, PT, Speech, etc) maxing out our insurance, and then we’ll use the Early Childhood Intervention services to finish off the year. Today we had our first meeting w/ECI and have scheduled our evaluation w/them next week. They will put together a plan for us and track his progress (both private and ECI related). I continue to be thankful (as thankful as I can be) that Matthew was born without thumbs, which although may be challenging, it was the key to getting him diagnosed and to connecting us w/early intervention. I’m glad we have a jump start.

We are a bit overwhelmed by the number of Matthew’s appointments {the pediatrician, nephrology (renal), audiology (hearing tests), ENT, genetics, cardiology, urology, hand surgery, in addition to the early intervention appointments with occupational therapy, physical therapy, nutrition, etc}, but are grateful for our very smart and supportive medical team!

I can’t believe it has been 3 weeks since our admission to TCH and our darkest night. The support, prayers and love for Matthew and our family brought us to the light. We will forever be thankful!!

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!!

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!

Results of the Chromosome Scan

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!