Genetics results

We held our breath as the long awaited call from Hopkins genetics came in last week. I haven’t said much about our initial appt because it was just complete information overload. They told us Grey would be tested for a connective tissue form of dwarfism along with different types of sticklers and a handful of other connective tissue related syndromes. Dwarfism. That just stuck and terrified me. Something we didn’t see coming so frankly we chose to ignore it all and deal with the outcome when it came. Thankfully Grey just comes from a family of peanuts and it was negative. With that news alone I began to breathe a little better. Not that it would be such a horrible thing, but another obstacle for Greyson to overcome. Instead they told us Greyson was positive for Marshall Syndrome.

“Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss. Joint pain and early onset arthritis are also common.”

There is no impact on his intelligence or life expectancy and no two cases present the same. He has a 50/50 chance of passing it along to his children when or if he chooses to have a family of his own. As a mother that is heartbreaking but as the doctor said, with the way medicine is advancing by the time he reaches that age it may be something they have figured out. He still has a high chance of progressive vision and hearing loss, but we are going to take it day by day. He’s been doing his thing, proving doctors wrong since the day he was born and we don’t see that changing.Hopkins is now sending out a kit to test us for this as well. Hopefully this will give Grey a solid medical background that could possibly help him in the future. I’m so thankful for the support of our friends and family through this emotional journey. Although it is hard to have the reality of a diagnosis I’m so glad we now know exactly what we are dealing with.

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These are the moments

Tonight we went to an event at church called “growth track.”  It is a 3 hour class including dinner and childcare (Johnny was sold at food and a babysitter haha). We dropped Grey off and took a seat, a few others made their way in including one guy who sat at our table. His wife came after class began and when we were dismissed for dinner after about an hour, we were able to chit chat and see where everyone was from, married or not, how many kids, etc.  Seemed like everyone at our table had a love for horses (minus my Long Island husband). We found out the woman sitting with us was actually into horse therapy that we’ve looked into doing with Grey.  We told her about him and I saw her start to tear up and the husband looked a little in shock.  She then said “ We dealt with cleft repair,  glasses at 6 months old, hearing problems, breathing issues and just recently a retinal detachment, where our son is actually going in for a follow up tomorrow.”  Turns out our sons have the same rare connective tissue disorder.  I still cannot cannot cannot believe this.  She went on to say in all her 18 years of surgeries, and specialist visits they have never met someone who has had the same condition.  She told us if we’d like they have a great opthamologist they’d suggest and we asked for a name.  Yep.  Our opthamologist.  In fact we went to Hopkins  because that ophthalmologist referred us to a retina specialist since the one he likes retired.  Well the last surgery he did before retirement was their son.  We also found that both Grey at 18 months and Stuart at 18 years have had an insane love for music at a young age.  Almost as a way to communicate.  Stuart now plays piano, acts and actually has a play this weekend. We exchanged numbers, hugs, probably cried a few times and they both looked us in the eyes and said “it does get better.”  The woman, Laura, told me there were days where her husband Bruce had to literally pick her up off the floor and we knew exactly what she was talking about. We plan on getting together for dinner and we now have this mentor couple praying for us.  There are absolutely no words to express the amount of joy I have to know someone who gets it…..literally every little thing we are going through.  This was 100% a God moment and a pretty cool one at that ❤

“So when are you going to have another one???”

You’d think that being a person who was very open about our struggle with infertility and the lengths it took to have Greyson this question wouldn’t be so prevalent…..surprise! It is.  An even bigger surprise is how much that question doesn’t bother me.  In fact I almost enjoy hearing that and being placed in the “typical” groups of mothers.  Anytime I’m asked I will say “As soon as we can get pregnant or have the money to go a second round!”

 

Now the statements that follow are the ones that usually get me….. I had someone say to me once, “I cannot believe you’d even consider having another after Greyson” or a different individual said “Greyson needs all your attention right now, that wouldn’t be fair to him to have another with all his special needs.” So, although I know theres no reason I should have to explain myself or my family’s life decisions, maybe this will help some understand why we are planning on continuing on with our little family.

  1.  I want Grey to have the experience of a sibling. I adore my little tribe of siblings, they are like built in friends that always have my back. I am 100% sure Greyson will benefit tremendously from the blessing of a brother or sister. The support alone, especially with his challenges going on, will be life changing.
  2. At no point in my life would I like Grey to think we had a dream to have a larger family, BUT Greyson. I want him to know it was all worth it and we’d like to have another BECAUSE Greyson. His experiences and “differences” have taught us so much not only in parenthood, but in life. I think he has paved a pretty wide path for any future siblings and I’m grateful for that.
  3. I refuse to live my life in fear. I have people who like to ramble off a list of what ifs and I have to turn a deaf ear . I’m going to quote my girl T Swift on this one and say “Fearless is not the absence of fear. Fearless is living in spite of those things that scare you” If we are honest we are terrified, but we are choosing to live life to the fullest despite our previous circumstances.
  4. Faith. We have faith God has planned great things for this little guy and great things for our family. There’s always going to be “something” no matter who you are. Nobody is immune to devastation and heartbreak. We all will walk in the valleys and we will also have our moments on top of the mountain. Our mountain peaks are now just a little bit sweeter with the cutest, sweetest and most loving little 18 month old we’ve ever seen.

 

A little catch up

I realized I miss my blogging.  It was therapeutic, even if it’s only for my eyes and a wandering few who read it.  It gives me an opportunity to get the mess out of my head and leave it somewhere.

Cliff Note Version of what’s happened since we had our amazing Greyson!

-born 8/25/16 at 7lbs 2oz but he had some surprises we didn’t expect

– We stayed in the NICU about a month and heard terms like “Pierre Robin Sequence, severe myopia, suspected Sticklers Syndrome,  hearing loss, cleft palate….)

—Greys received a jaw distraction at 7 days old, hardware removal at 3 months old, glasses at about 6 months, where he got to see our faces for the first time, cleft palate repair at 9 months, and hearing aids at 12 months.

-We’ve had multiple ER visits for breathing issues and endless amount of specialists appts and we are now at Hopkins waiting on genetics testing.

It’s not been an easy trip through parenthood, but I’m sure as any parent with a child with challenges to face would say… we wouldn’t change him for the world.  Between the pain. tears and hearts breaking, I’ve felt Johnny and I have both been in a severe refining process.

There have been times I have found myself face on the floor begging God to fix my baby.  Sobs have come from the deepest of my being like none I’ve ever felt.  The other day I wondered if those tears even come from the same place as the others like a fight with a friend or a bad breakup.  I swear these tears are different, they burn more…you feel each and every one.  My prayers have been to change the circumstances, for a miracle, or even a few less ailments and if I’m honest we haven’t seen answers.  It actually seems his condition has been more like a game of whack a mole….once we get one thing down and accepted that new reality, a new thing pops up.

But recently we started going back to church and I’ve found myself getting that little nudge at my heart and what I’ve found is my prayers are changing.  God if you aren’t going to fix this give us peace and purpose.

“The refining process is hot.  To refine gold you must apply force and heat for the impurities to rise to the surface.  As the impurities rise, they are removed and more heat is applied. This process continues and continues, heat is applied and re-applied, until the gold is pure. The refiner knows the gold is pure when he looks into the gold and sees his clear reflection“

I’m finding that instead of trying so hard to achieve a change in our circumstance, maybe what we need more is a change in our perspective.  It ain’t easy, but honestly looking back some of the best things came from the most difficult and trying times….

 

 

It’s A Boy!

So I realized I haven’t blogged in SO long! I have been so wrapped up in just enjoying this long awaited gift.  We found out through blood work in the first trimester that we are having a boy 🙂 We have since agreed on a name and will be naming him “Greyson David”

We got our 20 week ultrasound a few weeks ago and he wouldn’t show his face, but we went back the following week and got this pretty awesome shot! (and he finally gave the doctors the facial shot they needed 🙂IMG_2365

 

How far along? 24 weeks
Total weight gain/loss: 8 lbs.
Maternity clothes? all maternity clothes! my regular shirts are like crop tops!
Stretch marks? Nope
Sleep: sleeping pretty well with the wonderful maternity pillow hubs got me
Best moment this week: feeling him move whenever I blow-dry someones hair at work
Have you told family and friends: they are well aware at this point ha
Movement: tons!
Food cravings:  still fruit, and lots of cold fruit juice, chicken salad sub from one specific deli with mayo, white cold condiments (mayo, sour cream, ranch, etc)
Anything making you queasy or sick: Cooked Vegetables, acidic dressing
Have you started to show yet: lots of belly going on
Labor Signs: No thank God!
Belly Button in or out? In.
Wedding rings on or off? On
Happy or Moody most of the time: moody, lots of crying for no reason…..
Weekly Wisdom: Listen to your body! I stopped running this week because of the pain in my lower belly when I do and hours after I’m done.  Staying active, but being careful.
Milestones:  Painting the nursery and seeing his sweet face and hand 🙂

 

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11 Weeks!

Last week marked 11 weeks! We are so excited to be able to finally break the news this week!  We have our first OB appointment on Wednesday and we are both excited for that even though we won’t be getting an ultrasound until 20 weeks (:/ this is when I miss our fertility clinic and weekly checks).

How far along? 11 Weeks 2 days
Total weight gain/loss: Gained about 10lbs cycling ivf, but dropped 1/2 since being pregnant
Maternity clothes? Maternity jeans are saving my life! My pants can button but very uncomfortable and belly band doesnt seem to stay in place while I work.
Stretch marks? Nope
Sleep: Is my best friend.
Best moment this week: Hearing the heartbeat on our doppler
Have you told family and friends: Our close family and friends know….
“Facebook official” (<- hahahaha) next week!
Movement: Not that I know of.
Food cravings:  Plain Coke, italian food, sweets, french fries (missing my previous cravings of ONLY fruit)
Anything making you queasy or sick: Cooked Vegetables, meat of almost any kind
Have you started to show yet: I’ve got a belly, but RE said it may go down a lot after I stop injections Wednesday!
Gender prediction: I’m feeling girl, but that makes me think it’s a boy.
Labor Signs: Heavens no.
Belly Button in or out? In.
Wedding rings on or off? On
Happy or Moody most of the time: So unpredictably moody
Weekly Wisdom: I force myself to exercise everyday even when I feel tired.  Once I get going my energy comes back 10 fold.  I still listen to my body though, sometimes the energy doesn’t come back and I take it as a sign an call it a day.
Milestones: FINISHING OUR INJECTIONS THIS WEEK!! YAHOOOOO!

We Graduated!

So I realized I haven’t updated in awhile, but tonight as I sit at home (happily sick and exhausted) I thought I’d jot down a little update!

We had a very big scare on New Years Even in which I bled…a lot.  I was called in for an emergency ultrasound on New Years Day thinking the worst had happened.  At 6 weeks they warned us there wasn’t much to see so we shouldn’t freak out, but they were just going to try and figure out the cause of the bleeding.  And there was our little jellybean! And a heartbeat!!!! We were both ecstatic and relieved.  Apparently the placenta pulled away a little and caused the scare. We went back in for, what was supposed to be, first OB ultrasound and saw a salamander looking blob which we were told was the baby.  Then this week we went back again and saw something that actually resembled a baby and a very strong heartbeat.  So on Monday we officially graduated! We are so so so happy, but it was bittersweet as that was our last appointment at the fertility.
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The craziest thing is now we wait until February 10th to see our new OB which seems so far away when you are used to every week monitoring.  I am still supposed to take the progesterone and estrace injections until February 10th as well.

It’s funny all the mixed emotions I am feeling.  I am so happy to be pregnant! But at the same time this first trimester is kicking my butt.  My diet currently consists of watermelon, fruit juice, watermelon, occasional toast or crackers, watermelon and some other fruits here and there.  Food aversions are so bad….turkey, chicken, beef, fish, anything that used to be alive practically.  I feel fortunate to only have gotten sick twice, but the exhaustion is insane.  This little video keeps me going 🙂

 

Best Christmas Present…Ever.

So I waited to type this blog till after Christmas was over.  Our first beta was on the 23rd and we received a call from our nurse with some amazing news.  Beta numbers came back (13dp5dt) at  1,681 !!!!!

Our doctor called and said she was so excited and she wouldn’t be surprised if on our first ultrasound in beg. of January we saw 2 in there.  So “brace yourself for that possibility” as our RE said.  I think I’m still in shock!  I know some people choose to keep it secret and on the down low just in case but we chose to share our news with our parents since they have been helping with shots, prayers and whatever else they can help with through this IVF process.  So we came up with a fun way to tell them when we were all at our house for Christmas Eve.

Our lovely Emma May 🙂
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We let her wander the house in her shirt until my mom noticed and began to read a bit….then freaked.  Now we just keep praying that everything continues to progress the way it should.  I’m so happy we chose to tell our family because even if (God forbid) something should change or happen I really appreciate having the support of our family through the hard times as well.

God is SO good to us! According to our IVF due date calculator, today, on Christmas our little bean (or beans’) organs have began to form, and heart(s?) have started beating.  So amazing.  Merry Christmas everyone! I know our household is marking this Christmas as our best Christmas…EVER!!!