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!

Holland

We received this from Darren’s sister, Matthew’s Aunt Karen.

“WELCOME TO HOLLAND

by
Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.”

I cried as I read this. I am no longer mourning the fact that we didn’t go to Italy. We’ve been to Italy twice before. It’s wonderful, but I’ve never been to Holland. I’m excited that we are going to a different place. We'll enjoy and cherish Holland. It will be good for our family!

With that though, I am scared…when I think too far in the future, about all of the unknown. I’ve never been to Holland. What is it going to be like? How am I going to navigate my way around? Then I’m reminded again of what I realized that early morning before our hospital stay…this moment is the only one we’ve been promised. No one is promised a particular future.

At this moment, I am thankful we are joyfully experiencing the typical newborn issues (Matthew’s sleeping when he should be eating and awake when he should be sleeping) and learning the craziness of 3 kids 4 yrs old and under. I just need to be reminded (probably time and time again) that we’ll deal with tomorrow when it comes.

Thank you to everyone who sent welcome home messages and have followed and celebrated with us!

Back to the Hoy House

After 8 days and 8 nights at Texas Children’s, we are home!! It was the most fantastic feeling to walk out of the hospital with our sweet Matthew, go to pick up Alyssa and Jackson and come home as our family of 5!

What a difference 8 days makes. We walked into TCH scared…about what we would find, about the future, just about everything. Today we are joyful! We still do not have a diagnosis, but we have a much better understanding of the symptoms. Matthew’s uniquenesses: absent radius (no thumbs, the most visible symptom), a small arterial septal defect and a functioning bicuspid valve (heart), an ectopic fused kidney (1 functioning kidney), undescended testes, and moderate to severe hearing loss on his left side. All of these things are not limiting and are either treatable or may never become problems or need to be treated. Thanks be to God!

Whatever the diagnosis, whatever the future, we have been reminded to appreciate what we have and to be thankful for the moment that we are in. We already have a page of follow up appointments in the next weeks, months, and years. We know this is not the end of our journey but the beginning. We love our Matthew and will do everything in our power to help him grow into the man he was destined to be.

We have a huge list of thank yous. Thank you to our family and friends, for the prayers, positive thoughts, well wishes, the offers of help and support, the gifts, the food, the visits, to the staff at TCH, Dr Cox, Dr Wortham, Dr Burrows, Dr Scott, night nurse Nicole, the Ronald McDonald House, to our special angels in heaven and to God.

Matthew Aaron - Tuesday, March 9 - Afternoon

Quick update this afternoon.

Occupational therapy came by this morning and taught me how to wrap Matthew's wrists to stretch his muscles and ligaments to a more natural position this morning. We'll change out the wraps every couple of days.

His circumcision was this afternoon. A bit traumatic for Matthew (and Katie), but it's done. They're holding him for observation for two hours to ensure that his bleeding and swelling are contained and within normal specs.

With a bit of luck we'll be sitting on the Northwest Freeway in rush-hour traffic this evening with everyone else ... heading home.

The last eight days has been a lot of things to our little family. Tiring, traumatic, emotional. Most of all it's been an eye-opening experience. Prior to Matthew's birth, we were taking much of our wonderful life for granted. Matthew's arrival changed all of that, of course. We are incredibly thankful for our life and for each of our amazing kids. Please take this opportunity to love on those in your life that are important to you. Spend a few minutes outside, not doing anything; just enjoy being outside. Live your life the way you want to, not the way you feel you need to ... I know I ended both of those phrases with prepositions.

Lastly I want to thank all of you for the wonderful words, countless thoughts, and infinite prayers that have been said on Matthew's behalf over the last week. Katie and I would not have survived this without our faith and you. I know that this is not the end of our journey, just the end of the beginning. We will continue to use this space to update you on his ongoing and never-ending doctors visits. Please continue to pray for our earthly angel.

We're goin' hooooommmmme!