Today I have the pleasure of sharing with you the last guest post of the month.  This comes from Erin, mom to twin girls with Turner Syndrome!  Aubrey and Ainsley were featured in the Our Beautiful Butterflies post earlier this month.

Uniquely Different

Hi everyone, thank you for taking the time to read this guest post, and thank you Sarah for hosting me.

Turner Syndrome Awareness Fact:  About 30% of girls with TS are born with a heart defect. 

In addition to February being Turner Syndrome Awareness month, the month we often think of most associated with hearts, also contains congenital heart defects (CHD) awareness week - which was February 7-14.

CHDs are the #1 birth defect, affecting about 1% of all newborns.  Over 40,000 babies are born with heart defects in the United States every year, according to the March of Dimes.  Babies born with heart defects sometimes need to have surgery and sometimes the condition is just followed closely by a cardiologist.

The most common heart defects in Turner Syndrome are "a bicuspid aortic valve (the valve through which blood exits the heart into the aorta normally has three flaps, but in this case has only two) and coarctation (narrowing) of the aorta (the main artery leaving the heart). "  Source

Even women and girls with Turner Syndrome born without a CHD, and who have no history of heart problems or hypertension, are at an increased risk for another heart issue,  aortic root dilatation, an enlargement of the aorta.  This can cause the aorta to separate or burst - known as aortic dissection.

Given the risk of aortic dissection, all women with TS should be alert for severe chest pain, as this is the main symptom.  Even if the pain is shorted-lived it is recommended that they always go immediately to the ER and have an MRI done to rule out this condition. 

Women with TS should follow Ritter Rules.  According to the Thoracic Aortic Disease Coalition (TAD):  "Ritter Rules are life-saving reminders to recognize, treat and prevent thoracic aortic dissection, a deadly tear in the large artery that carries blood away from the heart. Named for actor John Ritter, who died of a thoracic aortic dissection, Ritter Rules combine knowledge with action. Know the urgency, symptoms, who is most at risk and which imaging tests are required to diagnose this medical emergency."

To read the full Ritter rules visit the TAD

The Turner Syndrome Society recommends that, "All girls and women with TS, regardless of age, should have a thorough physical exam and an echocardiogram or MRI of the heart to look for heart conditions as soon as they are diagnosed with TS, during early adolescence (12-15 years old), and every three to five years during adulthood."

We are blessed that Lily does not have a CHD, but this does not mean we are out of the woods.
Yes, this sometimes feels scary to me, but knowing of the risks, following preventative care guidelines, and being aware of the signs/symptoms gives us knowledge going forward, and knowledge is power!

27 weeks… 1 more week until 28 - my second goal!
Yesterday was a BIG day for appointments.  I spent 8:30 am to 1:00 pm at the hospital for tests.  First, I had a fetal MRI.  This is where they put ME in a scary and super tiny MRI machine for about 80 minutes, and do a bunch of scans of the baby.  The purpose of this test was to have very detailed pictures showing the structure of the cystic hygroma on the back of our baby's neck/head.  These pictures will then be given to pediatric surgeons, who will begin the planning for the surgeries our daughter will need after birth.  Yes... surgerIES.  We are told it will likely take multiple surgeries to remove the hygroma, depending on its structure and interconnection with blood vessels, etc.  This is not a test to let us know what is wrong with the baby, but simply another piece of the puzzle so doctors can help her in the future.  We will likely begin meeting with the surgeons in the next couple of weeks.

I have to say that after spending almost 80 minutes in the MRI machine all I could think of was hilariously:  "Thank God I am not as fat as I used to be!"  That thing is tiny, and 100 pounds ago I have no clue how I would have fit.  At least it distracted me somewhat from the close quarters and hammering and car alarms sounds that were coming from all around me.

After the MRI, we had a follow up echo cardiogram.  At our first they found a small heart defect called a VSD in the baby, and could not see the aortic arch, which is one of the key things they wanted to see.  The cardiologist could not find the VSD this time, and they still couldn't see the aortic arch very clearly (we are told it is very hard to image in utero), but they were able to trace blood flow through it and it appeared normal.  The VSD could have possibly closed or it is just harder to see.  Apparently, it gets harder the further along you get.  The conclusion was that the baby would need to have an echo cardiogram 24-48 hours after birth.  The cardiologist told us "not to worry about it." Ah... OK, easier said than done, but the heart seems to be the least of our worries in the whole scheme of things.

Overall things continue to be stable, and we are grateful for that.

Overall my health is still pretty good.  My cold symptoms have eased up, although I still have a sporadic nasty cough.  My blood pressure is a bit higher than I'd like, but it is still normal.  I have really little if any swelling.  I've gained a total of 27 pounds.  The baby is measuring close to normal overall, and she is kick, kick, kicking away!  Her patterns have become much more regular and I feel her more often than I have in previous weeks.  It is very comforting to feel her punches to my bladder, even if it results in - at 34 years old - me peeing my pants.  I'd like to think the punches mean she is training to punch my doctor (Sorry Dr. P)  as she is delivered for giving her such a grim prognosis only 8 short weeks ago.  That's my girl! 

I'm glad so many of you liked my Happy Crappy Pregnancy Cake.  Yes, of course I ate some, but of course, I didn't eat it all.  It was quite delicious!
So... the doctor's appointment on Thursday- It would never be quite complete without a little drama, right?  First, I got there and I had no appointment on the book... interesting, because in the folder where I've organized all my "pregnancy stuff" I had an appointment card with 6/30 2:15 pm written on it.  During my last appointment, the office was having a super busy/disorganized day due to a few emergencies, and someone wrote my card, but forgot to write down my appointment in the book.  Big sigh!  They knew they had to "fit me in" though, and really those are NEVER the words you want to hear, because you just know you'll be waiting.  I'll spare you the details of the wait, but let's just say that at one point my husband was pretending to juggle with imaginary objects due to his boredom.  Finally I started my 2:15 pm appointment at 4:00 pm.  What happened next stunned me though... I was given a coffee gift card for my trouble.  What?  At a doctor's office?  I was shocked! 

I am happy to report that my blood pressure was down to 125/78, from 128/85.  YAY!  My ultrasound showed the baby measuring overall 25 weeks and 5 days - I was 26 weeks and 1 day at the time... not bad at all!  The head/tummy are still overall measuring normal and the limbs measuring 1-2 weeks behind.  The femur (thigh) measurement was actually only 1 week behind this time, so that one caught up a little.  Overall the baby is around 1-3/4 pounds!

The small rim of fluid remains around the heart.  My doctor categorizes it as on the threshold of being non-significant.  I guess everyone has just a little fluid around the heart, and this is just a tiny bit more than normal.  There is no excess fluid anywhere else, kidneys are working, amniotic fluid is normal. 

My doctor likes to often do her own ultrasound after the initial one.  This time she came in, found the baby's heart on the ultrasound, and started just staring at it.  I could have sworn 5 minutes past, and she didn't say a thing during that whole time.  She was just taking pictures and staring at the heart.  Then she started doing the same thing with the baby's head.  You know THAT SILENCE... the one that is so big and so long that it almost hurts you?  Yeah... it was like that.  I wanted to yell out, "What's wrong?"  but I managed to keep my cool.

She told us that overall the baby really remains unchanged and stable.  The hygroma is not growing, but is not shrinking.  Today she could not convince herself that the VSD heart defect was still there.  She didn't see it, but couldn't rule it out either.  It is not uncommon for the small VSDs to heal in utero.  I really hope it is gone!  We will find out more on Tuesday at our second echo cardiogram. 

She also told us that she is seeing something new though... why, why can't we just be free of these new discoveries for just one appointment?  The baby's head is tapering slightly on one end.  She said it could definitely be normal and just familial - given my son's strange journey with his prolonged open fontanel this is not shocking to us.  It could also be another marker of some sort of genetic or chromosomal condition (which is still highly suspected in our baby girl), or it is even possible that the skull bones have started fusing too quickly in the baby (not something you want to happen).  Right now she is not immediately concerned, because it just showed up at 26 weeks - some of the more serious conditions would have shown prior to this.  It is just another thing to put on the "watch list."  She did find "L"'s fontanel condition significant to this finding, so we are going with familial right now.  Did we trade a heart condition for a head condition?  I guess that is TBD at this point.

I know she is still shocked to see me pregnant at 26 weeks... and even while I feel satisfaction in that, I am still so incredibly fearful of the uncertain future. 

Tuesday starts the rounds of tests - MRI and another echo - that will start to give the surgeons the information they would need to treat our baby once she is born.  We will be meeting with them in the coming weeks to discuss how this may play out.  I hope and pray they have the wisdom to know what to do, and for me the patience and peace to endure it all!

Next ultrasound in 2 weeks... Next stop 28 weeks!

I sit here today and I am 23 weeks pregnant. It has been a full 4 weeks since that day. I sit here today not knowing what the future holds, but knowing that I am 4 weeks farther and I’m still pregnant. I am 1 week away from the gestational age of viability (which is 24 weeks in Minnesota) and I’m still pregnant.


I am in a state of acceptance.

Acceptance that this is not the pregnancy I longed for or imagined, but the pregnancy that I have been blessed with anyways.
Acceptance that I will NEVER get an easy pregnancy. I will never know what it is to have the pure bliss of being an anticipating mother to be, without all the stress that comes along with that.
Acceptance that I may either need to prepare for the death of my baby.
OR Acceptance of the earth-shattering life changes that would come along with her permanently joining our family.
Acceptance that I don’t know how I will provide for this baby if she has challenges. Would she be able to attend a regular daycare? How will I work?
Acceptance that I will not be delivering in the convenient suburban hospital, with a free parking lot, but instead in a downtown hospital, where the way is wrought with nasty traffic, road construction, and pay through your teeth parking (if you know me I hate driving into the city, and I hate traffic!)
Acceptance that I am not in control of any of the above.
Acceptance of how once bad news, is now the ‘not so bad news’

Acceptance has allowed me to have somewhat of a break from the 24 hour/day vigilant monitoring of the movements in my belly, and the complete exhaustion that brings me day after day. I have had many moments of freeing relief from just being able to think about and do something else for awhile. A mental break that was definitely needed. This is certainly an answer to prayer.

Acceptance has allowed me to walk across the street to the neighbor’s garage sale and purchase one tiny, newborn, pink and white polka-dotted dress with frilly bloomers to sit quietly in the closet and pray every single night that my daughter my someday wear it. Acceptance has allowed me to accept 2 bags of maternity clothes from a friend, and 1 bag of baby girl clothes. It has not allowed me to wash them and place them in drawers yet though.

Last week as you know we had another ultrasound appointment. We follow up with another ultrasound a week from Thursday – and then rinse and repeat every 2 weeks. My maternal fetal medicine specialist (Dr. P) will take all of my care from now on, so she’ll be doing my OB appointments too. Next Thursday I’ll have my gestational diabetes screen. I swear, if I have it, I honestly think poking myself with a needle several times a day may just be the thing to send me over the edge, but I have other things to worry about until then.

Yesterday we met with a pediatric cardiologist at the hospital. An echocardiogram – which is basically a heart ultrasound – was done on the baby. Right now the only heart defect they are seeing is a VSD – which is basically a defect that is a type of hole in the heart. We’ve been told it is small and may resolve on its own, or it may not. I will have another echo done in a month, because they are still checking for a defect known as CoA or Coarctation of the Aorta – which about 1 out of 3 babies with a cystic hygroma have. They were not able to rule CoA out yesterday because of the baby’s position and the inability to see exactly what they were looking for. We are hoping and praying that the VSD is the only defect, and our baby’s heart stays healthy and strong.

24 weeks – 28 weeks – 30 weeks… those are my next goals - like a child that needs a paper chain to count down to the end of school, or a Disney vacation – I only plan for and take one day at a time.