Our First Walk Down Rauri's Road

So I decided in lieu of needing a new hobby, blogging seemed fitting as of late.. So, here goes!

 

...grab some tea..coffee..juice..a swiss cake roll, a jar of pickles, a bag of Doritos...whatever it is.. The Byrnes Family has some news to share.

 

After having nearly a month now to process the newest crazy turn on our adventure as a soon to be family of five we are ready to share a bit of our journey on Rauri's Road. Rauri is our new little sweet pea who also happens to be a GIRL! [yippee!] That we have gotten to know a little bit better over the course of many doctor appointments lately and quite a few meetings with the geneticist that we are currently working with at Essentia Health in Duluth. Aurora, who we often refer to as 'Baby Rauri'  in our house..is joining us this fall as most of you know, what many of you don’t know is that Rauri has Trisomy 21. Trisomy 21 is better known as Down syndrome.  To break is down a little bit ‘tri’ obviously means three, ‘somy’ meaning chromosomes. You have 23 pairs of chromosomes (totaling 46) and in people with Down syndrome they have THREE copies of the 21^st chromosome instead of two! Thus rocking designer genes! Its cheesy I know, but you can’t tell me you didn’t smile. I have learned that it’s so incredibly important to find light in the small things and celebrate small victories because hey! At least they are there!

Though we understand this comes as a shock to many of you, a shock that we know very very well, we want to share our number one request early in the game, to save us all really.. please do not tell us you are [sorry..]. There is not a single part of this journey we would now take back or change and the last thing we will ever be for this journey or this blessing is '..sorry'. So spare yourself sounding rather goofy, we are ECSTATIC. And I'm sure many of you by now think I am crazy, or am riding a cloud of adrenaline still; while this was the case for the first two weeks it is far from the truth now. Join us in being EXCITED..just like we were for London and Nash..we are excited. Anxious, nervous, curious, learning, stressing, reading, studying, preparing, shopping, singing, dancing, sharing..we are EXCITED.

 

Now that we have the shock factor out of the way I can give a bit of background as to what Charlie and I have heard, seen, and been through in the weeks past, thankfully we have been far from alone as our immediate family and our few best friends have been on the journey with us since day one, and we now feel it’s time to clue the rest of the people in our life in on this new adventure! I understand word spreads quickly, especially when you live in a small town, and though I urge those close to us to really educate yourself, PLEASE come to us if you have questions, or concerns, or are just curious and want to know more! We are happy to explain, and share what we know so far, and we are more than happy to share our resources, our books, pamphlets, websites, blogs, etc. We have been blessed with many so far on Rauri’s Road and are very thankful for the people who have connected us with them.

 

As I'm approaching my 16th week in our 2nd trimester I realize it’s been almost 5 weeks since we first started our journey on Rauri’s Road. That journey began near 11 weeks when I finally had convinced my OBGYN to conduct the NT [Nuchal Translucency] screen, an ultrasound used to screen for Down syndrome flags. He was extremely hesitant as I have already had what they refer to as two "typical" and healthy pregnancies, no complications, no family history or genetic disorders, no need really in his eyes for this testing. As a mom I have had a weird suspicion since around week 8 that this pregnancy was going to be anything but .."typical" and against his advice to skip the testing because of the calculated 1; 1,450 odds of me carrying a T21 pregnancy he agreed to my pleas. FINALLY! This was really the day that I figured we were in for quite the ride. We were scheduled to see a Nurse Practitioner following the screen and instead walked in Dr. Lebarge.. Which we all know is never a good sign. He explained to us that the space in the tissue on the back of baby’s neck was larger than usual because of what was mostly likely the excess fluid and that was a big flag in our screen as well as the fact that there was not a nasal bone on our little peanut, both BIG flags of babies that have Trisomy 21.. He explained to us that it was now a good idea to have blood work sent to Mayo in the cities where my blood would be tested for  the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby. We were told that this blood test would yield odds within about a week and my phone rang a mere 48 hours later.. Alas the birthday of my sweet silver lining, my niece Kennedys.  A man’s shaky voice on the other end of the phone could only mutter “I’m so sorry kiddo, but I know if anybody could handle this..it’s you.” This voice was Dr. Lebarge once again. Thank god I love him to death, he has seen me through every pregnancy, every obstacle, a C-section, etc. and now he was left to tell me some life altering news. Notice I don’t call this BAD NEWS. Though it was unexpected, he could have informed us of much worse. He asked if I could make it in to see a geneticist immediately down town so we could discuss what was to come but didn’t offer much more information than that. In walks Elizabeth Sengstock who is now also a crucial member of our healthcare team with Rauri. She is our geneticist and a damn good one at that. Our first encounter, I would like to do over as I sat in shock, blankly staring out the window alongside my mother in law (who thank GOD I ran into out and about that day and she offered me to tag along with her, what news that would have been to get alone!) -  while she explained to us the odds of our baby having trisomy 21 was now greater than 1:5 and then went on to say that they do not offer greater odds without a diagnosis. Our next step was a newer screening test they call MaterniT21. This would give us a *Positive or *Negative result for Down syndrome as this is also a blood test that would be sent to Mayo in hopes of receiving news in a week… Positive it was. And oh what a joy that was to hear! If you want to get to know more about that test specifically check here!

https://laboratories.sequenom.com/patients/maternit21-plus/

Funny, you never think you could ever wish Down syndrome on your child, but after hearing of the alternative diagnosis we found ourselves with crossed fingers and toes that, that would indeed be the diagnosis in the days to come.  

We went on later that evening as Kennedy turned one week old to celebrate our GENDER REVEAL! (My little silver lining comes up a lot as I explain our journey. She kept my heart full and happy during some of the most excruciatingly long days of my life. And as I struggled the first few weeks of our diagnosis to find the positives, I turned to her. Thank god my sister in law is a rock and knew that even though I may come and never leave she met me at the door with peanut all snuggled and ready to keep Auntie going.) We gathered with our closest family and friends and of course the VERY excited big brother and sister J as we had planned to from day one to find out the gender of our very last sweet peanut. A room full of people who had already walked a mile on our journey with us, who knew the stress we had been under and raised it with smiles and welcoming messages. Everyone was EXCITED just as we needed them to be…and BOY OH BOY did that pink confetti fly!!! A girl! Although everyone knew she was a girl. I never missed an opportunity to fill them full of my mother’s intuition nonsense, and I was convinced.

We take small opportunities often to sit with the kids and explain that their new baby coming may seem a little different than most babies they have seen in their short lives but encourage them to believe she will be perfect. Just as she will be to all of us.  We try to just keep them included in the really happy, exciting stuff as not to scare them. Because, truly what’s the point of fussing over the unknowns for now.. We want to shop and prepare and decorate her space all together, to make it extra special and to keep everyone involved. Nash loves picking out a new little pink onsie every time I go shopping, I can’t even get over his excitement for a new baby.  It truly warms my heart. London was just relieved to hear she was getting a little sister and didn’t have to deal with another boy in the house! Nash took to mama’s obsession with the name Rauri and London doesn’t miss a beat to remind us that her name is Aurora just like sleeping beauty and that she is going to teach her to love princesses when she gets older just like her big sister. Charlie kind of lost input on the name game after I fell so very in love and had my heart set on Rauri whether boy or girl, from day one.  So it’s with a puffy chest I welcome you to Rauri's Story.

So what’s next you ask?! Well, were not entirely sure! We have a multitude of upcoming appointments and scans in the coming weeks and months. We will follow through with a level II anatomy scan at 20 weeks, instead of the somewhat typical 16 weeks for some Trisomy 21 cases. We will meet our Maternal Fetal Medicine Specialist at this appointment. We have heard marvelous things about her (Dr. O’Day) and look forward to her doing our scan which we have been told can take 2 hours, and I thought my belly got sore at the other ones! Six weeks after that scan we will have a Pediatric Cardiologist come down from Children’s Hospital in the cities to do a fetal Echocardiogram on the baby via ultrasound. This test will give us a better idea if we are facing a heart defect of any degree, as it is a 50/50 shot in babies with Down syndrome. Some of these defects will fix themselves; some of these require surgery to repair. We have been told if Rauri needs her heart repaired shortly following birth she will be delivered at Abbott Northwestern in the cities and her heart surgery will be done in the cities at Children’s. So if you would, send good vibes, say a few prayers that these are things that we will be blessed enough to avoid.  We can handle just about anything but the thought of them taking my newborn and bringing her directly into heart surgery has really had my anxiety up lately. Like I said though, we are trying to avoid worrying over things that a) are out of our control and b) that we just don’t know yet!

 

If any of you have stayed with me long enough to reach the 90^th paragraph I thank you! This is going to be a great tool to keep those interested updated, and those who don’t care to see if free of being flooded on Facebook. We can’t say a million thank you’s enough for our family who have done nothing but tried to lift us up in this time of stress and worry and fill us with all of the resources they can get their hands on. As well as our best friends who don’t miss an opportunity to let us know that we are never alone on our journey and offer constant words of encouragement. I know some people hate hearing it, but I know we as parents have been CHOSEN because the big guy knows what he’s doing. And quite frankly he couldn’t have picked a better life for our Rauri for she will forever be surrounded by the best guardians, her big brother and big sister who will never let her down, her family who will never leave her and who will continue to be her biggest supporter and her best advocate. There isn’t a better group of people to be surrounded by. And I will never be able to convey truly how grateful I am.  Life is good. It may be full of twists, and turns, and mountains, but it leaves you with victory.  You only end up defeated when you chose to give up. 

 

We are now choosing to let our faith be bigger than our fear. And we are hoping you can chose to do the same along with us.

 

If you guys want some quick grab resources to read a little more on Ds and other topics regarding it, here are some great ones I have started with!

http://www.friendshipcircle.org/blog/2013/03/20/42-top-down-syndrome-resources-you-should-know-about/

Love you all!

Keep up with us here; I will always update more as it becomes available to me!

 

Love always, Lex

Charlie, London & Nash too, of course.