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

Feeding Tube Awareness Week

I shared on Facebook that because February is dedicated as the month to raise awareness regarding many of Aberdeen's struggles, I would attempt to highlight each of these issues as the month progresses. Think of it as Aberdeen Awareness Month!

We kick off Aberdeen Awareness Month with Feeding Tube Awareness Week (February 8-14). 

Did you know that approximately half a million people nationwide rely on feeding tubes to receive adequate nutrition? It is estimated that 20% of these people are children. There are over 300 known conditions that contribute to the need for tube feeding, and that number is growing. 

I, for one, had absolutely zero knowledge about tube feeding before Abby was born. I assumed that eating by mouth was always instinctual, and did not understand that when the body has to spend extra effort in keeping the heart beating, or lungs working, that feeding gets put on the back burner. It isn't a matter of not being hungry enough, eating by mouth requires so much effort and coordination, that some people actually cannot do it. Others have the capability of eating by mouth, but because of aspiration or other issues, it is not safe for them to do so.  Until we were sent home with a feeding tube and pump system, I was in complete denial about the prospect of Abby not eating by mouth. But, here we are, with Abby about to turn six months old, and still totally reliant upon the feeding tube. 

Though it has prompted lots of tears and frustration, I am so thankful for Aberdeen's feeding tube. It has kept her alive. Forgetting all of her other challenges, in another time or place, Abby's feeding issues alone could have killed her. In addition to receiving 100% of her food via tube, Abby also receives all of her medications through her feeding tube. I cannot imagine having to orally administer as many meds as Abby has per day - so even if she grows out of her need for the tube nutritionally, she may need to keep it just to make sure that she is effectively receiving her life-saving medications daily.  It may be unusual, but it works. 

Abby with her former NG tube

Abby with her current PEG tube

There are many different types of tubes used for many different reasons. Abby had an NG (naso-gastric) tube from birth through 3.5 months of age, and has had a PEG (percutaneous endoscopic gastrostomy) tube since then. In March, GI will place a different version of the G-tube (gastrostomy), so that when Abby is on a break from her feeds, there won't be any external tubing attached to her.  These tubes can also be pushed out of the stomach and down into the duodenum and jejunum (intestines) for patients who cannot safely handle having food in their stomachs. When this is done they are called ND or NJ tubes, or GJ or J tubes.

I encourage you to explore the following site and learn more about this alternate form of eating. Share your knowledge. 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.

Feeding Tube Awareness Foundation

Please feel free to ask me any questions that you may have!

25 Weeks Old

This is now officially the longest stretch that Abby has ever been home. I am so proud. 

Overall, things are really going well by Abby standards. We've gotten into a successful groove, even with all of the medical appointments, and are really really happy with how everything's progressing. We had my mom here for the first week, which was a huge help, and now we're figuring out how to go it alone. I had my first solo outing with Abby today, and though I was anxious as all get-out, everything went absolutely fine, she did great. 

I'll write a better update next week, I promise, but I wanted to make sure I snuck in here to say that all is well!

Thank you for the continued prayers!