Tuesday, February 21, 2012

By any other name...

I struggle every time I talk about what is going on with Ronan.  Not for the reasons you might suspect.  Not because I find it hard to explain.  Not because I find it difficult to talk about.  And not because I find it too emotional to come to terms with.  I think when a child is not born healthy, you go through the grieving process, to a point, and eventually past a lot of the anger, sadness, and the multitude of other emotions.  That's not to say I don't have my days....

I struggle when talking about Ronan because of the terminology.  I know it's just semantics, but it's my baby's semantics.  I cringe when I say "defect".  I am angry when I say "syndrome".  It is hard to say, "malformation", "disease", and "disorder".  I hate saying "special needs", "rehabilitation" and "therapy".  But all these things are just words.  Just ways to describe reality.

I don't write about these difficulties to dissuade people from asking about Ronan; there is nothing I love more than to talk about my little boy and brag about him.  I even enjoy discussing a lot of the things going on with him.  People have such interesting points of view, and I've gotten some wonderful suggestions, tips, and leads on therapies and doctors.  I just bring this up since I had never given it a second thought when using these words.

There really aren't other ways or words to describe these things.  You can only describe a congenital heart defect in so many ways.  This brings up the other reason I don't like to use these words.  I don't like how they make others feel.  There are times when people ask how Ronan is doing, and they don't know about our journey.  This has come up quite a few times now that I've returned to work, and I understand.  I left a few months ago excited and pregnant, so now there must be a happy, healthy baby.  Sometimes I just do the, "oh I had a baby boy, he's fantastic", thing.  (Which is true!)  Other times I start into Ronan's heart, hearing, and diagnosis, which brings me to my point about others feelings.  It just makes the other person feel bad and uncomfortable.  What do you say?  My son had open heart surgery for a congenital heart defect, but he's fine now.  People want to know more, but I always have some heart ache describing Ronan's journey.

Here's what it comes down to...  I don't see the things about Ronan as "defective".  Even when it comes to something that is clearly a defect, like his pulmonary valve.  Ronan does not have defects, he does not have malformed features, nor do I consider him special needs.  I think he is absolutely perfect, the tiny little guy that God intended.  He is incredibly special to us, and is exactly how he should be.

Sunday, February 19, 2012

Genetics, genetics, genetics!

Let me apologize to my doctor friends - I am going to try to relay this post as best I can, but I'm sure there will be some medical inaccuracies!

Ronan and his Buzz Lightyear helmet

Last week, we went to meet with the medical geneticist from Children's Hospital, Dr. S, as well as a PhD whose work revolves around CHARGE.  Needless to say, Paul and I were very excited to have the opportunity to speak with a researcher who focuses on this rare disorder.  I had all these visions of hearing these broad statements like, in 5 years we may be able to do this, and in 10 years we may cure that.  I had been thinking we would hear about all these cutting edge treatments and possibilities.  The appointment did not go how I envisioned, but nonetheless, it was not disappointing.

Ronan was only the 3rd CHARGE person that the researcher had met.  She asked some questions, and noted a few general observations.  She seemed most surprised about how well Ronan tracked, and she remarked that he "seemed to listen well."  We discussed some of the more recent and successful treatments that Ronan had, like his heart surgery and ear wells, and spent some time discussing the use of a helmet to possibly correct the frontal bossing that is common with CHARGE babies.

When it came time to get into the nitty gritty genetic details, she provided a wealth of knowledge about what differences are seen with CHARGE babies.  A few of these items are not published yet, so take them for what it's worth here.

Helmet doesn't bother him at all :)
It could be the CHARGE babies have fewer neuroplasty/neuroplasm cells than healthy babies.  These cells can travel all over the body, and help to build various structures like the inner ear, various airway structures, and other areas that we typically see issues with CHARGE babies.  In other words, there may not be enough "builders" in our babies.  The other genetic abnormality, the missing copy of CHD7, affects the transportation of these particular cells.  So not only are the "builders" fewer, but they don't necessarily get to where they need to go as quickly as in a healthy baby.  Of course, this all happens so early on in development prior to birth.  Since CHD6, CHD8, and CHD9 do such similar jobs as CHD7, often some children can compensate a bit, giving us more of a wide spectrum of presentations of CHARGE.

Another interesting conversation revolved around cancers, and metastasized tumors.  Many people who experience this end up having an extra copy of CHD7.  Preliminary research is showing that perhaps CHARGE babies have a lower chance of developing cancer and having it spread.  An interesting "benefit", possibly, to having CHARGE.

There were no discussions such as, we'll grow new ears for Ronan, or we can replace his optic nerve in 10 years.  There were, however, other possibilities for Ronan.  Some researchers are working on regrowing the tiny little hairs in the inner ear that are required for hearing.  We do not know yet if Ronan's hearing loss is due to an issue with structures or a lack of functioning hair, but it could be a possibility for him.  I do think the possibility of growing him a replacement for his pulmonary valve is real, and that his follow up treatment in 5 - 10 years could very well be this.  How incredible would it be to be able to grow this part of his heart, and have one final procedure for Ronan?  I am very hopeful.

The other thing I find a bit laughable is how different doctors treat Ronan's weight gain.  The geneticist was literally giddy with the amount of weight Ronan had gained.  This is in stark contrast to our pediatrician, who actually mentioned a feeding tube at our last appointment.  I tend to lean towards the opinion that Ronan is doing fine with his weight gain, especially when you consider his adjusted age, heart surgery, and CHARGE background, and I think our pediatrician is just used to seeing all these big healthy babies.  Ronan was officially double his birth weight just a few days before his 6 month birthday (unadjusted), so I think he is doing fantastic!  Ronan has also started solids, so I'm hoping that might bring him closer to the growth chart.  Mom, on the other hand, has the opposite problem that Ronan has with gaining weight, so she needs to start to get back into running!

Step one: get the food actually in Ronan's mouth :)

Saturday, February 11, 2012

Ronan's first gift!

Ronan's developmental specialist had him doing arts and crafts today. I was surprised how much he actually did! He patted the stickers on himself and used the paint brush briefly. So cute!

Saturday, February 4, 2012

Heart Awareness Month

February is Heart Awareness Month.  This is when you see celebrities supporting awareness for women's heart disease.  Or maybe information about fundraisers for stroke research.  There are campaigns to alert the public about risk factors for heart attacks and campaigns to wear red.  What I don't remember seeings is a lot about congenital heart defects.

1 in 100 children are born with a congenital heart defect.  Twice as many children will die from a congenital heart defect than all childhood cancers combined, yet pediatric cancer research receives five times the funding.

As you may know, Ronan was born with severe pulmonic valvular stenosis.  In terms of congenital heart defects, Ronan is lucky.  His condition is typically treatable and manageable.  He may have some extra trips to the doctor growing up, but after his open heart surgery on September 30th, he may not have another for 5 - 10 years.  It is also possible by that time that doctors could do the procedure in a cath lab, or that he could have his valve replaced by his own, grown from stem cells in his cord blood.  It is truly amazing what is on the horizon.

The day after his open heart surgery
I've relayed Ronan's birth story when we found out about his congenital heart defect, but I haven't talked a lot about his open heart surgery.  After Ronan was discharged from the NICU, our pediatric cardiologist, Dr. A, had us coming in once a week for an EKG and echocardiogram.  We were going to monitor Ronan's heart pressures until they reached a level where too much stress was being put on his heart.  The hope was that we could allow Ronan to grow and gain weight before putting him through open heart surgery.  When Ronan was about 8 weeks old, we found out at our weekly appointment that the time had come to repair our little man's heart.

At that time, we were both relieved and scared.  Relieved that we were finally going to take action and that we finally knew when that would entail.  Relieved that it seemed like Ronan's condition was only a valve issue, and not something more serious as they were starting to wonder since his pressures were not matching the condition of his valve.  And obviously we were terrified of the idea of our little tiny baby who was not even 10 pounds going through open heart surgery.  Honestly, the part that scared me the most was the idea that his heart would be stopped, and that for a period of time, a machine would be keeping him alive.

There are three things that day that stand out in my mind...  first, I can put myself back to that moment when they wheeled Ronan away from me and to the surgery.  I really didn't feel anything, I think I was trying so hard not to lose it that it just seemed surreal when he was taken away.  It was like an out of body experience.  The second part was after we heard he was off the heart-lung machine and they were closing him up.  This was when I did start to cry.  It was such an emotional relief when I finally knew that he was past the scariest part of the procedure for me.  Finally, I had another surreal moment when we went back to see Ronan for the first time.  He seemed alert, and actually happy to see us despite all the tubes, IVs, wires, ventilator, etc.  His tiny little hand held my finger tightly.

Fast forward 4.5 months later.  His heart murmur is barely perceivable.  He's gaining between a half ounce and an ounce a day.  He turning pages in books, rolling around, laughing at his dad, and chatting up a storm.  His next cardiology appointment is in MAY.  Four months from now.  Dr. A wasn't even going to do an echocardiogram at his January appointment, but Paul requested it.  Dr. A said that next time Paul will need to get used to the idea of Ronan not having an echo every office visit.  :)  This little man is my hero.

Congenital heart defects have been in the news recently.  Or maybe I have just noticed these stories more.  Sadly, there have been a number of sudden deaths in both babies and adults, attributed to undiagnosed congenital heart defects.  This has prompted a new movement to add a test to new born screening to look for these types of problems.  Ironically, on Ronan's due date, August 21st, a federal advisory panel recommended in the Journal of Pediatrics that all newborns receive a quick, painless test for heart defects.  

See the article: http://articles.latimes.com/2011/aug/21/health/la-he-heart-screening-20110822.

Just a coincidence that this recommendation happened on Ronan's due date?  

I leave you with a deep conversation between Ronan and his daddy....