100% Perfect – Baby Isaiah Update

Good morning from sunny but chilly Florida! We wanted to write a quick blog today to catch everyone up on Isaiah’s big doctors appointment yesterday with his geneticist, Dr. Anthony Perszyk.

As a couple, as a family and with extended family and close friends, we prayed to have peace going into this appointment and I can tell you first hand that God provided that peace for us. We also know hundreds of not thousands of you were praying for us as well. Dr. P joined us yesterday afternoon to let us know that, in fact, Isaiah tested 20 for 20. A perfect 100%. All 20 of the blood cells that they tested of his, in fact, are carrying an extra chromosome, #21.

I held our sweet baby in my arms and Paul held onto both of us as we heard the news. Dr. P was kind and gentle as he shared some more details. He reminded us that the sample of blood that was taken from Isaiah’s tiny little body was miniscule in comparison to the amount of blood cells his entire body has. He reminded us that in utero, we passed every screening test for Down syndrome (Ds), and that indicates that there are cells in there that do not have the extra chromosome. We asked tons of questions. He was so patient with both us. So here’s the bottom line, as we understand it:

  • Isaiah, as we already knew, has Down syndrome
  • They do still suspect, even though all 20 of the blood cells they tested showed the extra chromosome, that he is likely to be have Mosaic Down syndrome. Why? He has so few markers as shown from all his “normal” test result findings on heart, brain, blood, spinal fluid, etc. that it seems the most likely scenario. Again, because all our prenatal screening checks were “normal”, this also indicates a likely diagnosis of Mosaic Ds.
  • They will not run more blood tests right now, as the next step for confirmation would be a brain biopsy which is quite invasive. Instead, sweet Isaiah will show us what he needs over the coming two years, will be monitored closely, will begin therapy, will have some extra tests, and then will be tested via skin cells around the age of 2.
  • One of the significantly increased risk factors we’ll need to be aware of with Isaiah is the increased risk for leukemia. Incidence of leukemia in the typical child population in the US is in the neighborhood of 3-4 per 100,000. In children with Down syndrome, the risk dramatically increases, Dr. P said, to about 1 in every 100 children. Research online shows that number can be as high as 2-3 per 100. We obviously have a lot of learning to do, but the AWESOME news is that because doctors are aware of this dramatic increase in risk, children with Ds are tested regularly through their CBC (blood count) and because of this, their leukemia is diagnosed much early than in the typical population. In the 20,000 Ds patients Dr. P has seen over the years, he has NEVER lost a single patient to Leukemia, as treatments now are lightyears ahead of where they’ve been in the past.
  • Isaiah will have more tests on his kidneys in several months to check their progress and make sure they are flushing fluid properly.
  • We get to enjoy our perfectly perfect son exactly like he is, and love on him, and adore him, and watch him grow!


Not a care in the world for this little miracle!

So there’s our update from Dr. P. We are sooooo incredibly thankful for all the prayers and love you all have sent. I keep getting people who are asking us how we are doing… how are we holding up… how are we able to stay positive? I’ll tell you, it’s easy when we’re in the hands of God, and when God provides the most incredible family and friends in the world. Here were some of the comments we got yesterday via text/email/phone when we learned the news:

“We’ve known all along he’s perfect. So I think a perfect score is just that… perfectly Isaiah!” ~ Cheetah Bonnie

“Apparently these Chromies don’t understand who they’re messing with. Isaiah will continue to leave us in awe of all the records he will shatter :)”  ~ Meg

“100% perfectly created by Our Father God!”  ~ Ann “Nan” M.

“So he’s 100% perfect!”  ~ Natalie

“Isaiah is perfect and he is yours and nothing will change that!” ~ Diane D.

“He is the sweetest… I know it’s all in God’s hands. And that baby boy is perfect no matter what and I’m so thankful for him. And you.”  ~ Ellie D.

“I think the extra chromosome is a chromo of joy!”  ~ D.S.

“Can’t wait to give Paul a hug next week. I believe the Lord does not give a special gift like Isaiah to those who are weak of heart and weak of faith.”
  ~ A.W.

“Now we know… 100% special”. ~ Isaiah’s Aunt Lisa

Now you understand how we are so filled with hope and love. Look at who God surrounds us with! The devil may use people with intent for evil, and we’ve had very few incidents of that but they’re there, and I don’t want to pretend they’re not… but they are OVERWHELMING wiped out because God uses these things for GOOD!

We are really encouraged to run the race set before us by our Lord. With our little guy at the head of the pack, side by side with Jesus, paving the way in whatever way Jesus sees fit for him and for us.

Speaking of “running the race”, Isaiah and I will be participating in the “One to Grow On” One Mile Fun Run on Saturday, February 1st, to benefit Wolfson Children’s Hospital and we’d love to invite you to join us! So save the date and time: 2/1/4 at 10:00 am at
Bragan Field at the Baseball Grounds of Jacksonville. We are working to make a Team Isaiah, but for now, you can register online HERE. Once there, scroll down to the “Who are you registering” section, choose yourself, then just below that choose the 1 Mile Fun Run for $10.00. If you’re joining us, then you can email me at [email protected] and let us know you’re coming with us and we’ll work with Wolfson to try to create a team! If I have an update before next Saturday, I’ll be sure to post it!

THANK YOU for all the prayers and love. We hope to see you February 1st for the Fun Run! God bless you!