Updates and an anniversary

It has been one year since the ultrasound that turned our world upside-down.

What a day of highs and lows that was. We were thrilled to find out that we were having a little girl, our Aberdeen Wren. Jameson had suspected from the start that we were having a girl, but I hadn't had any strong inclinations either way, so was elated to finally know! Everything at the scan had seemed to go well, but our world came crashing down a few hours later when we got the call that something might potentially be wrong. Though it was still unclear at that point what the issue was or what it might mean for Abby's overall well-being, it didn't matter, something was wrong and it was devastating. 

Though I will worry about Aberdeen every single day for the rest of forever, as any parent would, I don't think anything was as anxiety-inducing as the concern I had for the questionable health of our unborn child. The surgeries have been hard, the recoveries have been harder; waiting to see what Abby would be like, if she would be ok, was the hardest thing I've ever had to do.

It has been a challenging year, no doubt, but being able to see and love on our sweet baby, makes the difficult days so much easier to deal with.

Abby's procedure last week went great, even better than expected. We got to say hello to some great friends (families and nurses), and then we got to go home! It was so reassuring to know that Abby can now tolerate small procedures without landing herself back in the CICU, and that her heart surgery really has made a difference. 

The rest of this past week has fit in nicely with the last-week-of-March-highs-and-lows theme we seem to have started. 

Highs: Jameson's birthday was this week! Yay! Abby's vomiting was not as frequent - we started her on a new medication a few weeks ago, and while it certainly hasn't fixed the problem, we're happy it's at least helping! Abby had her last Synagis shot and flu shot booster, so we should be able to start taking her places here soon without the hightened risk of contracting a respiratory virus! 

Lows: I slipped down the stairs while doing laundry on Wednesday, and bruised up my leg and ego pretty badly. Seriously, you'd think I'd be able to walk up and down stairs with all that dancing growing up, but no. I'll be fine, just a klutz. The balloon in Abby's new g-tube button popped last night (see image below). These things are supposed to last months, but this one only made it a week. We had a spare on hand and got it all fixed up, but gosh I hope this isn't a representation of what's to come. 

All in all, things are going well enough and we're looking forward to Spring and getting out of the house some more!

Home!

We are already home!!!! Barely more than 24 hours after being admitted for Abby's procedure, and we are ALREADY HOME! 

Everything went smoothly today during the endoscopic removal of Abby's PEG tube and placement of the AMT Mini button. She spent a whopping 45 minutes in the OR, and briefly recovered in the PACU before being sent back to the cardiac step down unit for observation throughout the afternoon. This is the very first time that she has been put under general anesthesia, intubated, and NOT had immediate complications. We could not be happier!

7 Months Old

I know I'm a couple of days late on this, it's been a busy week!

We have been home for seven weeks now!!! Abby has been doing well overall, making huge strides in her ability to reach, lift her head, and hold a supported sitting position. We were told numerous times that after about a month at home we would probably start to see her really start to progress developmentally, but I didn't expect to see so many improvements in such a short amount of time! With her newfound skills, Abby has developed a great love of grabbing my sleeves, hair, face, and anything else she can get her hands on. It's really pretty funny.

This has been Abby's biggest area of struggle.
The fact that she can look at this toy now while on her tummy is amazing.

She has really gotten great at sitting.  She is even starting to support herself on things in front of her.
Pretty soon, she's not going to need me to hold her up!

Abby has continued to average about four appointments a week. She had recently seen GI, ophthalmology, nephrology, radiology, complex care (pediatrician), the interdisciplinary feeding team, pulmonary, and cardiology (along with PT and OT). We will follow up with orthotics and neurology in the next week as well, and she will start regularly seeing speech therapy for feeding therapy. She handles her demanding appointment schedule pretty well, all things considered. It requires quite a bit of time in the car and definitely doesn't coordinate with her preferred nap times. Hopefully as we get more of her post-hospital follow-ups out of the way, things will settle down a bit. 

Abby has had strabismus and nystagmus for some time now.   To ensure that the strabismus does not start interfering with her vision, we now have to alternate patching for an hour each day.  Pirate Abby is not a fan, arrrr.

We will be heading back to the OR next Thursday for a very scheduled procedure for once. Abby is due to have her long g-tube changed out for a button. Tubes aren't designed to last forever, and because her tube was initially placed endoscopically, it will need to be removed the same way. Once she has the button setup, we will be able to change out the tube at home. Hopefully we will be inpatient for a max 48 hours - I've explained this to her many times. It's going to get through to her, I just know it.

________________________________

Dear Abby,

You are now seven months old! You have changed so much in the past month, it's astounding! You can now hold your head up for a couple minutes when laying on your tummy, can stay sitting up while hanging onto my fingers, and can reach and grab everything in sight! You like to tell us long, involved stories, and despite the fact that you have 10,000 toys, you've decided that washcloths, sleeves, bibs, and my hair are the absolute best things to play with. You have developed a great love of Silly Songs with Larry and kicking the crunchy paper at your medical appointments. You make the funniest faces and are so quick to smile, it lights up my day.

Yummy bib

In the past couple of weeks the weather has started improving and we've gotten to have some really fun experiences with you! We've taken walks around the lake behind the house, and you even got to experience snow for the very first time. It has been so nice to get to do things with you that have nothing to do with doctors or therapy - things that are truly just for fun! I hope that as the winter ends and respiratory virus season along with it, we'll get to have even more adventures! Maybe we can go on a hike, or to the park. We might be able to take you to a restaurant or out shopping even! I know that we'll have to take it easy, but it would make me so happy for you to get to experience life outside of the house, car, or doctor's office. 

Beautiful little snow baby

Looking cool on her walk

We have to take you back to the hospital next week for a quick procedure, and while I've tried to stay optimistic about how everything will go, I'd be lying if I said I wasn't nervous. I've loved having you at home so much, that I don't even want to think about another extended admission. You're going to do great though, you will, and we'll be back home before either of us know it.

I love you, sweet baby. This past month has held so many gifts and surprises as you've thrived and grown. I can't wait to see what the next month has in store for you. 

Love,

Your Mommy

Rare Disease Awareness Day

We bring Aberdeen Awareness Month to a close with Rare Disease Awareness Day!

As I said when this month kicked off: To me, awareness isn't just about raising money for research (though that is very important as well), it's about differences becoming commonplace instead of oddities, it's about preparing a family for the unforeseen challenges of a medically complicated child, it's about better understanding the people around us.

These very similar pleas from parents with children with rare diseases (craniosynostosis syndromes, in fact), drive the point home:

http://themighty.com/2015/01/to-the-mom-or-dad-who-told-their-child-not-to-stare-at-mine/

https://jamesonsjourney.wordpress.com/2014/09/19/hes-not-scary-hes-a-little-boy/

There are so many conditions affecting the people around us that we know nothing about. Start somewhere. Pick one or two, learn something about what some people deal with on a daily basis! The following websites have lots of great information about this awareness-raising day and the diseases for which it advocates!

http://www.rarediseaseday.org

http://www.rarediseases.org

While Noonan Syndrome alone qualifies as a rare disease, Abby's variation and presentation are particularly rare. Very few cases of craniosynostosis have been reported in conjunction with Noonan Syndrome, and we've been told that Abby is the third reported case of multi-suture craniosynostosis in the presence of Noonan's.

When Abby was born, the geneticists initially thought she had a craniosynostosis syndrome like Pfeiffer or Apert, with isolated heart issues in addition. The first panel of tests they ran checked to see if there was a mutation of the FGFR gene, which is frequently the cause of craniosynostosis and its associated syndromes. These tests came back negative. At the recommendation of the cardiologists, the Noonan's panel was subsequently run. This came back positive for a mutation of the KRAS gene, which caused Abby's Noonan Syndrome.

Here is where things get complicated and a geneticist would probably laugh at my explanation, but I'll do my best:

Apparently the FGFR gene, which can cause craniosynostosis, talks to the nucleus of a cell through the Noonan's-causing KRAS gene. Since Abby's KRAS gene harbors a mutation, the messages from the normal FGFR gene got jumbled and ended up dictating craniosynostosis anyway. So, it's almost as though Abby has Noonan Syndrome AND a craniosynostosis syndrome, even though her FGFR gene itself is unaffected. Confusing, and quite rare. 

We adore our rare and complicated baby bird, and we think it is important that the people in her life understand her as best they can! Thank you for joining us in celebration of Aberdeen Awareness Month in the form of Feeding Tube Awareness Week, Congenital Heart Defect Awareness Week, Noonan Syndrome Awareness Month, and Rare Disease Awareness Day. We'll be back later in the year to discuss Craniosynostosis Awareness as well!

Noonan Syndrome Awareness Month

Noonan Syndrome: 

The Most Common Rare Syndrome You've Never Heard Of

Noonan Syndrome was discovered by pediatric cardiologist, Jacqueline Noonan, in 1962 when she noticed a commonality in physical characteristics in association with particular cardiac issues.  The physical characteristics were similar to those of Turner Syndrome, which many people with Noonan's were incorrectly diagnosed with.  Dr. Noonan determined that this new syndrome was not related to the sex chromosomes at all (as Turner's is), and could, in fact, occur in both males and females.

I had never heard of Noonan Syndrome before having Abby.  It wasn't until a couple of days after her birth, once we had been transferred to Cincinnati Children's, that the name first came into my awareness.  Though the geneticists were baffled by Abby's particular assortment of complications, the cardiologists were focused on her hypertrophic cardiomyopathy and immediately knew what the underlying issue was: Noonan's.  Though it took about two months to receive confirmation, the cardiologists were entirely correct: Abby has a gene mutation that causes what those in the Noonan's community refer to as "the most common rare syndrome you've never heard of."

Seriously, for never having heard of Noonan Syndrome, it is remarkably common, occurring in 1 of every 1,000-2,500 live births - really not all that more rare than Down Syndrome, which it seems most people are familiar with.  The lack of knowledge surrounding Noonan Syndrome may be in part to its extreme variability.  The effects of Noonan Syndrome can present themselves through certain physical attributes, but are also seen in the way many bodily systems are influenced.  According to the Noonan Syndrome Foundation:
"People with NS may experience bleeding issues, congenital heart defects including hypertrophic cardiomyopathy and/or pulmonary valve stenosis, lymphatic abnormalities, small stature/growth issues, feeding and gastrointestinal issues, failure to thrive, hypertelorism, learning disorders, autism, unexplained chronic pain, chiari malformation, hypotonia, ptosis, skeletal malformations, laryngomalacia, tracheomalacia, opthamology issues, orthopaedic issues, oncology issues and much, much more."
As far as I can tell, that seems to pretty well encompass the entire body.  Abby has the misfortune of suffering from quite a few of these maladies, which account for the SIX medical appointments that she has this week alone. We've joked (sort of) that the only department Abby hasn't consulted with at CCHMC is podiatry.  

Though the extensive nature of Noonan Syndrome can be overwhelming, I am so thankful for her diagnosis: it has allowed us to be proactive in ways that we would not have known necessary without it.  For instance, the bleeding disorders associated with Noonan's can present themselves at any point throughout a person's life.  Before any surgical procedure, Abby will need to be tested to assess her blood's ability to clot so that we don't run into any life-threatening issues of blood-loss.  It also prompted the hematology team to search for a particular type of leukemia (JMML) that frequently affects people with NS when they saw that her white blood cell count was chronically high.  It turned out that she did not have JMML at that time, but it's certainly something we need to keep an eye out for.  Though we don't think that the label of Noonan Syndrome (or any other issue, for that matter) needs to define Abby, we do think it's important to be informed and aware of how the complications may affect her.  

The genetics behind Noonan Syndrome are somewhat complicated.  Unlike conditions like Down Syndrome, people with Noonan Syndrome have a typical number of chromosomes.  There is however a mutation that occurs of one of a few different genes (PTPN11, SOS1, RAF1, NRAS, KRAS, or BRAF) that results in the presence of Noonan's.  It is not something that can be "cured" or "grown out of" - it is a part of their DNA and is integral to their genetic makeup.  Noonan Syndrome can occur in a person via a couple of different routes.  The syndrome is considered autosomal dominant, in that a person with Noonan Syndrome has a 50% chance of passing their particular Noonan-causing gene mutation to their offspring.  It can also occur spontaneously, with no family history, and no apparent trigger.  In Abby's case, the cause is the latter.  Jameson and I had testing done to determine if either of us carry the KRAS gene mutation that Abby has, and it was determined that we do not.  We have absolutely no idea what caused her particular case, it was simply something in the way the cosmos aligned at her conception that determined that she would have Noonan Syndrome.  If we were to have more children, the likelihood that they would have Noonan's is the same as it was for Abby - totally unexpected, and extremely unlikely.  

If, like me, you weren't familiar with Noonan Syndrome before Abby, I encourage you to continue learning about it.  Considering how common it actually is, it's entirely possible that you know others with Noonan Syndrome as well. I discovered that I had a fellow mom friend with a child with Noonan's, but just hadn't realized it before! Check out the following link to explore Noonan's further:

Noonan Syndrome Foundation

Congenital Heart Defect Awareness Week

In addition to Feeding Tube Awareness Week, February 8-14 is dedicated to increasing CHD awareness!

A fellow heart mom posted the following quote along with a photo of her son post-op.  I thought it was the perfect tribute to her heart hero, and decided to follow suit:

"Sometimes real superheroes live in the hearts of small children fighting big battles."

According to the CDC, Congenital Heart Defects (CHDs) are the most common type of birth defect, affecting approximately 40,000 infants each year in the US alone.  CHDs are present at birth, though the types are numerous and highly varying: they range from major structural abnormalities, to tiny holes in the heart; from something that would only minimally (or not even) affect the child's overall well-being, to something that might require multiple open-heart surgeries or even a heart transplant.   Luckily, as medical treatments have advanced, people born with CHDs are living longer and longer, many even into adulthood.

Though many CHDs can be detected before the baby is actually born, we knew nothing about Abby's heart conditions until many hours after her birth.  We knew she was going to have skull issues (craniosynostosis), and thanks to early ultrasounds, were even prepared for her to have some sort of genetic syndrome that affected her life in many ways.  However, heart problems were nowhere on our radar.  Craniosynostosis syndromes do not typically involve heart complications, and when we were informed that she may not make it due to cardiac issues, we were completely floored.  We had multiple fetal echocardiograms and a fetal MRI while I was pregnant, but none of her CHDs were detected.  We had an amazing team of doctors that were proactive in getting Abby the care she needed as quickly as possible, but I know we would have benefitted (even just emotionally) from having prior knowledge of the severity of Abby's heart condition.  Thankfully, more and more frequently, CHDs are being picked up on ultrasounds, allowing for appropriate medical interventions to be lined up as the child enters the world.

The cause of CHDs is frequently unknown.  In some cases, like Abby's, a genetic mutation is the cause of the heart issues; there have also been certain environmental factors that have been linked to the development of CHDs (maternal smoking, for one).  However, in the case of most of the families that we have encountered over the last six months, the cause of their child's heart conditions is a complete mystery.  It is important that research be supported to allow for a better understanding of how to detect and prevent CHDs whenever possible.

During a routine EKG

The types of CHD that Abby was born with are as follows:
- ASD (atrial septal defect) - a hole in the wall that divides the upper chambers of the heart.  In her case, it was quite large and causing blood to flow the wrong way through her heart. It had to be closed through open-heart surgery.
- VSD (ventricular septal defect) - a hole in the wall that divides the lower chambers of the heart.  Abby actually has two, but they are small, and will not require surgical closing.
- PDA (patent ductus arteriosis) - an persistent opening that allows blood to flow from the pulmonary artery to the aorta.  While in-utero, the ductus arteriosis allows blood flow to bypass the lungs that are not yet providing oxygen.  The problem arises when the ductus does not close within a few days of birth. The turbulent blood flow caused by the ductus can cause heart failure. Abby's never closed, and while it was not particularly large, they closed it during her heart surgery to avoid any future issues it might cause.
- PS (pulmonary stenosis) - a narrowing of the of the pulmonary valve that causes the right ventricle to work harder to get blood to the lungs.  While this isn't a major concern right now, this may need to be addressed during a catheterization procedure in the future.
- LSVC (left superior vena cava) -  the superior vena cava is usually on the right side of the heart, with an LSVC, it is on the left.  Abby actually has bilateral SVCs (right AND left) that are thankfully not cause for concern.

Abby's main cardiac issue isn't considered a defect exactly, rather a cardiovascular disease.  But since it was something she was born with, I'm going to discuss it anyway.  Hypertrophic cardiomyopathy (HCM) is a rare childhood condition, affecting only 5 of every million children.  It is characterized by an abnormal growth of the muscle fibers of the heart, causing it to become thickened and stiff.  While the heart still squeezes normally, it cannot relax and properly refill.  Abby's muscle thickening is severe enough that it actually obstructs the blood flow out of her heart and causes fluid buildup around her lungs. There is nothing that can surgically be done to fix her cardiomyopathy (there is a surgery that involves shaving down the overgrown muscle, but it doesn't stop it from regrowing, and is thus considered ineffective).  She will remain on beta-blockers for the rest of her life to reduce her heart rate enough to allow it to relax and refill.  She is also on longterm diuretics to help keep the fluid accumulation around her lungs from becoming dangerous.  If the obstruction continues to get worse, heart transplantation may become a topic of conversation down the road, though it becomes rather complicated and controversial because of all of her other health issues.  HCM is most likely the main contributor to Abby's initial feeding struggles, in that she did not have the endurance to eat.  It will continue to affect her energy and endurance throughout her life.  We have also been told that because of her HCM, we will outlive Abby.  Though we will always pray for a miracle, we find comfort in having befriended others going through similar struggles.  The heart community is an amazing one, truly.

I encourage you to investigate the many types of CHDs out there, and how they impact the lives of the people who have them.  Cincinnati Children's Hospital has a very informative, interactive app that details different CHDs (though certainly not all), as well as the procedures done to repair them.  It is called Cincinnati Children's Heartpedia, check it out!

Sending all of our love to our heart hero friends and their families: Liam, Aiden, Benjamin, Ellie, Jayden, Sydney, Parker, Henry, Kinley, Minerva, Layla, Fischer, Jaden, and Hannah. 

6 Months Old!

Dear Abby,

Happy Half-Birthday to YOU! That's right, you are six months old today.  I can barely believe it, baby bird.  Today, at your cardiology appointment you weighed in at a whopping 6.4kg (that's right, we use the metric system - I believe it's a little over 14 pounds), and were 60cm long - which puts you in approximately the 13th percentile for weight, and 1st percentile for length, my little chunk.  After hanging out in the 3rd percentile for both weight and length for a while and then dropping off the charts completely, I can't believe how big you've gotten!  You're huge!

After a very long hospital stay, we finally got to take you home on January 22nd.  You've been home for almost three weeks now and have already changed so much. It's amazing how you're thriving now that you're out of the hospital.  This time, home feels so different, so...normal.  It's almost as if you've always been here, that's how right it feels. We've gotten to see your personality and preferences becoming more apparent each day. You love reading books with me, being carried around by daddy, kicking your legs, and you've started to really like Gracie.  You're not so keen on the velcro on your helmet, the nasal cannula, stretches, or Boone's barking. Your sweet smile lights up our home - you've brought a completeness to it that was always meant to be there.

Abby, in your first six months of life, you have spent approximately five months in the hospital, have undergone four surgeries, a cardiac catheterization, a bronchoscopy and bone marrow aspirate, two MRIs, two CT scans, three EEGs, a sleep study, at least a hundred X-Rays, and countless other tests.  You are also "talking" more and more each day, can reach and grasp things on your own, are able to roll from side to side, and are working so so hard on your head control.  Abby, you are amazing, and so incredibly brave.

In addition to highlights from the last six months, I looked back at some of the pictures of you as a newborn today. I didn't take as many pictures as I would have liked, and we never got to do a fancy photo shoot with you covered in fuzzy blankets, but I treasure those we have.  Not only is it fun to reminisce on how tiny and adorable you were,  it is truly awe inspiring to see how far you've come.  Nobody knew what you were going to be able to achieve, and the future was very uncertain, but you have moved mountains and exceeded everyone's expectations.  I can't wait to see what the next six months hold for you. I know they will be astounding.

I love you more than you can imagine, Abby. You inspire me to be a stronger, braver person. You've changed my heart, and I am thankful for it every single day.

Love,
Your Mommy

My first glimpse of you, many hours after you were born

Heading home for the very first time

Our first glimpses of you post cranial surgery

My beautiful, smiley girl

Being a goof during your second trip home

Happy Halloween!

Immediately post heart surgery

Your first smiles after a very scary month

Christmas is exhausting!

Six months old and more amazing than ever