partial Trisomy 4p21q

I often find myself struggling to explain Wesley's exact diagnosis, instead just stating that he has a rare chromosomal abnormality. I have found that if I use the exact medical terminology, I often get a blank stare and glazed over look in response.  But due to recent questions I have received, I thought I would take the time to explain his diagnosis in greater detail.  So, for those of you interested in the science behind the diagnosis, here it goes:

Whereas most people have 46 chromosomes, Wesley has 47. His karyotype (a picture of systematically arranged chromosomes) shows that he has an extra 21st chromosome. Usually triplication of the 21st chromosome would indicate that a person has Down syndrome, but this is not the case for Wesley.

Chromosomes are composed of 2 arms - a short arm (labeled "p") and a long arm (labeled "q"). In Wesley's extra 21st chromosome, the short arm is actually a piece of the 4th chromosome, NOT the 21st. As a result, instead of having Down syndrome, Wesley has the diagnosis of partial Trisomy 4p21q. This means that he has a partial trisomy of the 4th chromosome (4p) and a partial trisomy of the 21st chromosome (21q).

Because Wesley's chromosomal makeup is different from Trisomy 21, he does not have many of the visible attributes often associated with people with Down syndrome.  On the other hand, the fact that he has an extra piece of the 21st chromosome means that there are some similarities. Just like many children with Down syndrome, Wesley has hypotonia (low tone), particularly in his tongue and jaw. Because of that, he has many difficulties with with feeding and speech. His hypotonia also affects his walking and the strength of his ankles.

Since Wesley's chromosomal abnormality is so rare, doctors cannot give us any information as to what Wesley's long term capabilities may be. Our best guess is that they will be similar to that of a person diagnosed with Down syndrome.  But, as Psalm 139 says, the Lord knows what Wesley's future holds, and he has sovereignly and lovingly ordained all of Wesley's days.  We trust that the Lord has a wonderful plan for Wesley's life, and we look forward to seeing all that the Lord has in store for him.

Autumn

The boys and I had a wonderful time playing in the leaves last week. Wesley doesn't usually prefer playing outside, but he LOVED the leaves and the thousands of acorns in our back yard.

Zach was my big helper - raking the leaves into big piles and then jumping in them.

Wesley wasn't a big fan of sitting in the pile of leaves, but he enjoyed wandering around the yard or sitting and inspecting the acorns.

This is so much fun mom! You should let me play with acorns more often!

**Check back soon for pictures of Zach in a tuxedo!

18 months

What an exciting month we have had over here! Wesley is walking everywhere now. He loves to pick up a toy in each hand and just wander through the house, exploring everything. He's also figured out that he doesn't just have to take the two top toys out of one of his toy boxes. Instead, he can dump all the contents out of all five of them, choosing to carry around the last two toys he finds. What fun that is for Zach and I as we get to clean up the mess!

Join with us in rejoicing and praising the Lord for the new things Wesley is learning to do!

• He said and signed "ada" (all done) last week (emphatically!) for the first time in months. While he hasn't done it again since, it is a reminder to us that he CAN do it. So we keep working with him, hoping that soon he will start signing and speaking more consistently.
• He is handing me picture cards to show me what he wants. He even went to get a picture card the other week to bring it to his speech therapist so she would turn on one of her toys. Also, most of the time, if I show him two cards, he will chose the one that he wants and give it to me. These are huge cognitive milestones. Our speech therapist was telling me that most kids she works with take months to figure this out. So, she thinks it shows that while his muscles in his mouth are so weak and uncoordinated that he finds it difficult to talk, he seems to understand what it means to communicate and is learning to do it when provided with the necessary tools. The most exciting part of this new development is that he LOVES to hand us picture cards. He is SO PROUD of himself. Whenever he gives us a card to show us what he wants, he gets a huge smile on his face and laughs. It is such a joy to watch my son be so happy that he can communicate to me what he wants.
• In the past two weeks, he has squatted down three times to pick up a toy and then stood back up without falling over. Considering how often he falls over and how much he struggles with balance, this is AMAZING! We are continuing to work with him, but are so excited as we see improvement in this area.
• He is now drinking thickened liquid (apple sauce and pureed Gerber 2nd fruits) from an open cup with minimal spilling. He is permitting us to hold the cup for him and support his jaw, which is a big step for him, especially since for a long time he did not want our hands anywhere near his face. He has even started putting one of his hands up to help me hold the cup, and sometimes he pulls my hand back under his jaw to indicate that he wants more. His swallowing is slowly improving, so hopefully soon we'll be able to introduce juice!
• He has started clapping! This is very important because bringing hands to midline is something Wesley has always struggled with. We think this might be one of the reasons he is not interested in sign language. He still claps to one side, holding one hand out and reaching over with his other hand to pat it. But, now that he has figured it out we can start working on moving it to the middle.
• Since he's started clapping, I have seen him sign "more" for two different therapists. He still won't sign for us, but I'm happy to see him starting to understand and try it for them.
• At speech therapy last week, he said "in" multiple times when working on a puzzle with his therapist. It was a transportation puzzle, and she would repeat the same phrase over and over again: "bus goes...", "car goes...", "truck goes...". After a while, Wesley figured it out and would say "in" for her when she paused. He also said "aaay" (yay) with us each time we cheered for him as he put the puzzle pieces in.
  
• Wesley's chewing is improving. His feeding therapist this morning informed that she is very happy with the way he is chewing and moving his tongue around while eating crackers. I think this is the first time I have ever heard a feeding therapist/speech therapist tell me that Wesley is doing anything well in the area of feeding. Wesley is still having a difficult time with textures and is refusing to even try most non-cracker, non-pureed foods. But, we love our new feeding therapist and are praying that the Lord will give her much wisdom as she seeks to help him improve in this area.

Momentary Afflictions

Wesley's diagnosis can at times be a heavy weight on my heart. When I think of what it will mean for him to live his entire life with a disability, it is difficult not to grieve.

But, God's word offers a different perspective on Wesley's life. In 2 Corinthians 4:17-18, it says "For this light momentary affliction is preparing for us an eternal weight of glory beyond all comparison, as we look not to the things that are seen but to the things that are unseen. For the things that are seen are transient, but the things that are unseen are eternal".

When I look at Wesley's life in light of these verses, I am filled with hope. In light of all eternity, his time here on earth is so short, and his disability is only a light and momentary affliction. If he trusts in Jesus as His Savior, he will be able to look back over his life here on earth and say that God used this trial in his life to prepare him for an eternal weight of glory beyond all comparison.

To paraphrase John Piper, "God cares about Wesley's body - big time. He simply didn’t come to fix all that in this age. He cares 10 million times more about Wesley’s soul and about his everlasting life and about the resurrection from the dead on the last day, when Wesley’s body will rise and be made new and He will wipe away every tear from Wesley’s eyes and death will be no more. Neither will there be mourning nor crying nor pain any more for the former things will have passed away. Oh, God cares about crying; He cares about tears; He cares about Wesley’s chromosomal abnormality. He cares about these things."

"But, He cares 10 million times more about what becomes of Wesley forever. We just have to keep these things balanced right. Wesley’s eternity is 10 million times more important than whether or not he gets well now. What matters is that Wesley gets well eventually and that he stays well forever, satisfied not mainly by God’s gifts but by Himself. “This is eternal life, that they might know you, the only God and the One that you have sent.” Oh, He cares, but in a certain order, both in priority and in time. He will make Wesley well, oh yes He will, in due time, if Wesley trusts in Him."

Lord, I pray that you will save my precious son Wesley, and that one day his tears will be wiped away as he sees you and worships you face to face.

Concentrating

I love watching Wesley play with his Wedgits. He just recently figured out how to stack toys, and he loves building towers and pulling them apart. This kid is definitely not a quitter. He still hasn't figured out that there is an order to where each piece goes, but he keeps working at it patiently each time until he figures it out. Instead of getting frustrated, he seems to enjoy the challenge.

God Exists

And without faith it is impossible to please him,

for whoever would draw near to God must believe that he exists

and that he rewards those who seek him.

Hebrews 11:6

So often I live as if God does not exist. I struggle through many days in my own strength, rushing from one doctor's appointment to another, hurrying home for the umpteenth therapy session of the week, squeezing in time to read a book to Zach before the next item on the schedule, feeding the boys, feeling remorse for the times I responded impatiently to Zach rather than patiently training and instructing him, and feeling guilty for all the things I should have done that day that I didn't get to (therapy with Wesley, preschool with Zach, play time with the boys, etc...). It's as if I believe that it is up to me to provide the best care for my children and that their success in life and eternal salvation is fully dependent on me. Praise the Lord that this is not true!

When I cut God out of the picture and attempt to do everything in my own strength, I often find myself fearful of the future, angry at my children, and overwhelmed by my circumstances. I am depriving myself of the joy of knowing God and fellowshipping with him. God has given me these children, and God will also give me the grace to raise them as they need to be raised. He WILL help me! He has promised that he will reward me if I cry out to him and diligently seek him.

Over the past 18 months, the Lord has already begun to give me a taste of his precious reward. The fellowship of knowing God and seeing more of who he is (his great love for us shown most clearly by the death of his Son for our sins & his sovereign care over every moment of our lives) as I have cried out to him and sought him in these trials, is a priceless and precious reward.

Glasses

This morning I started reading 2 Corinthians and was reading 1:1-11, which the Lord used to encourage my soul. He was so kind to remind me again that he is the Father of mercies and the God of all comfort who comforts me in my affliction. And, he is using these afflictions to make me rely not on myself but on God, who raises the dead. On Him I have set my hope, that He will deliver me again!

I was so grateful that the Lord led me to read these verses this morning, as I was in great need of his mercy and comfort at Wesley's ophthalmologist appointment today. (Zach handled himself wonderfully throughout the hour and a half appointment - which I know was a miracle and a gift to me from the Lord!) We found out that Wesley's vision has significantly deteriorated over the past year. He went from having normal vision last summer to only being able to see clearly up to 6 inches away now.

I realized as soon as I found out the news that my greatest concern was that Wesley would look even more different with glasses and get even more stares and questions and funny looks. It seems that the Lord is using this as yet another opportunity to peel away a layer of pride and teach me humility. I was again reminded that my hope is not in Wesley looking normal but in God, who raises the dead and who loves Wesley more than I ever could.

The Lord has helped me to see these glasses as a gift to help Wesley see better rather than just another thing that will make him look different. I am looking forward to how his improved vision will help him to develop in other areas as the whole world opens up before his very eyes.

Now we just have to hope that he will realize that it is his glasses that help him to see and let us keep them on his face!