Saturday, December 31, 2011

A Heart Momma's Greatest Fear

As part of this new journey in life, I am now a "heart momma."  I am lucky that as far as heart mommas go, I have a relatively mild heart condition to deal with for my little boy.  Being a heart momma means that I scrutinize every cough, every sneeze, and every variation of color Ronan has.  I monitor his scars, I learn to look at echocardiograms and EKGs.
an EKG test

I saw a news story yesterday about a wonderful teenager, Ben Breedlove.  He had a rare congenital heart defect, hypertrophic cardiomyopathy, which means that part of his heart was thicker than it should be to the point where it was difficult for it to beat.  Ben passed away this week after suffering a heart attack.  His story hit home for me since we starting going down the path of cardiomyopathy with Ronan prior to his heart surgery.  

Ben Breedlove's Story

The thickness of one of Ronan's ventricles was indicative of a more serious case of pulmonic stenosis than what Ronan was presenting.  Our cardiologist, Dr. A, told us the day Ronan was born that the thickness indicated that the pressure gradient in Ronan's heart would increase to the point of needing a procedure.  After birth, his gradient was about a 3, anything above a 5 means the individual needs an angioplasty or surgery.  Dr. A felt that the thickness was what he normally saw in patients with a gradient of 5 or 6, but that Ronan's gradient remained low because the various holes that everyone is born with had not closed up yet.  After Ronan hit 5 days in the NICU and his pressure had not changed, Dr. A felt Ronan could go home and be monitored.  The next big milestone would be the pulmonic pressures normalizing, and this could produce the pressure change that would warrant intervention.  

Once Ronan hit about 4 - 5 weeks with no change to his pressure gradient, his cardio case became more "interesting".  Dr. A presented Ronan's case to a number of cardiologists, all of whom felt that Ronan's heart thickness and pressure gradients did not match up.  Eventually, Dr. A consulted with a cardiologist whose specialty was cardiomyopathy.  This would have made Ronan's case far more serious, and we anxiously waited for his opinion.  The cardiomyopathy cardiologist felt that Ronan's heart thickness still could be a result of his stenosis, and that we should just continue to wait and monitor.

I never thought I would be relieved at the thought of my baby having open heart surgery, but the day that Dr. A performed an echocardiogram and we saw Ronan's pressure gradient at a level 5.5, we were all relieved.  When Dr. A told us that Ronan's case was no longer unusual, and his heart thickness and stenosis were matched, this elephant in the room disappeared.  Paul and I were both frightened after the little research we did into pediatric cardiomyopathy; some of these children end up with heart transplants.  This was the point where we actually decided not to do research, not to do internet searches, and to just wait and see what happened with Ronan.  

As Ronan recovers from his open heart surgery to repair his pulmonary valve, his heart thickness should start to go back to normal.  In follow ups, we've seen the ventricle thickness decrease.  It is still not normal yet, but it could take some time to get to that point.  But for the moment, we can push a fear of cardiomyopathy to the bottom of our list of worries, and I can just remain a mild heart momma.

Thursday, December 29, 2011

A Festivus Miracle

Today a festivus miracle occurred.  Ronan has moderate hearing loss, and was fitted with hearing aids about a month ago.  He was also born with grade 1 microtia, which means that his outer ear was not shaped normally.  Sometimes kids with misshapen ears have that issue resolved on its own as the cartilage hardens, but sometimes the ears remain abnormal.  Ever since getting Ronan fitted with the hearing aids, Paul and I have been extremely paranoid about Ronan pulling them out and losing them.
Ronan's right ear prior to the ear well

Ronan's right ear after 6 weeks with an ear well - great looking ear, cool hair cut

Warning - I'm about to go off on a slightly off topic rant concerning medical insurance... Ronan's hearing aids are not covered by insurance.  They are not considered medically necessary.  No matter that Ronan won't develop language or be able to communicate his needs. And these little suckers are expensive - we're talking in the order of four grand.  Luckily we can replace the ear molds as he grows for $50, and keep the aids for several years.  It just seems baffling to me.  Another ridiculous part of the insurance mystery is that they would be covered if the hearing loss was a result of an illness.  What difference does that make??  Hearing loss is hearing loss.

Even more confusing is that his ear wells were covered.  For those of you who don't know what ear wells are, they are quite possibly the most wonderful non-invasive piece of medical technology since babies started wearing helmets to help with head shape. A baby can wear ear wells for 6 - 8 weeks before the cartilage in the ears hardens, and completely reshape the ear.  It's basically a soft piece of plastic that fits over the ear, and a plastic surgeon tapes the ear inside the plastic piece.  The baby can still hear, he or she just has this piece fitted over his or her ears.  A purely cosmetic procedure, an ear well, is covered, but hearing aids are not.  I'm not complaining since the hospital charges more than you would guess for ear wells, but it just seems strange.  Both these things will literally change the course of his life - he will have one less challenge to overcome since his ears shape is closer to normal, and he will be able to develop language and communicate.  

Ronan with his ear wells

Anyway, back to the story.  This morning Ronan and I were rushing off to meet with the landlord of my mother's place (another post!), and one of Ronan's hearing aids was falling out.  I took them out for "safe keeping", and put them in the side pocket of the diaper bag.  After meeting with the landlord, Paul and I went out to lunch, then headed home.  When we got home, Ronan was waking up from his nap (thanks for letting mom and dad have lunch out!), and I went to get his hearing aids to put them back in.  Much to my dismay, only ONE was in our diaper bag.  I was so upset with myself - could I buy just one, do they need to take new molds, how much was this going to cost, etc...  I called the restaurant, and had them search the seating area and parking lot.  I tore apart our car, diaper bag, and stroller.  I finally decided to walk to my mom's place to check there.  The hearing aid was IN THE MIDDLE OF THE DRIVEWAY.  Undamaged!  Somehow, our landlord pulled in and out of the driveway, as did we, and no one ran over it.  Truly a miracle! 

Interesting how the first scare with losing the hearing aids was a result of mom rather than Ronan pulling them out :)

Sunday, December 25, 2011

Merry Christmas!

Merry Christmas!

Words can't describe how happy I am to be celebrating this first Christmas with my little boy.  Apparently he was quite a good boy this year - Santa brought so many wonderful gifts for him!  I can't help but also think about all the other little children we saw at Children's Hospital who may not be as lucky and who may be spending Christmas in the hospital. Or worse.  Paul and I saw so many sick children that really reframed our feelings about Ronan and his potential condition.

After Ronan was first born and we started to hear different syndromes or diseases thrown around, Paul and I went through a grieving process.  It was hard for us to come to terms with Ronan not being totally healthy.  I think that all you want as a parent is for your child to be happy and healthy.  I had quite a few days where I was angry that my baby couldn't be healthy like so many other babies, or sad that Ronan will have to overcome so many challenges.  I also couldn't help but feel guilty that maybe there was something I could have done differently during the pregnancy.  I was struggling with all of these things, especially when Ronan was admitted to Children's for his open heart surgery.

After Ronan was taken back for his initial angioplasty, Paul and I walked around the hospital.  It was hard not to notice some of the children there who obviously had many more challenges they would have to overcome than many of us will ever have in our lifetime.  It was at this point where some switch flipped for me, and I went from this grieving process to a celebration of how lucky we are to have such a wonderful little boy.  He truly is phenomenal, recovering so quickly and still being his happy little self.  Although Ronan will have to learn to work around a few things, we are not struggling with a life threatening illness.  Ronan will learn to listen with his hearing aids, and if necessary, cochlear implants.  He will figure out how to compensate if he has balance issues from his vestibular problems.  He will monitor his heart as he grows up and will have his valve replaced as needed.  And honestly, I have so much hope for medical advances.  There are already trials with internal and high frequency cochlear implants.  They are performing valve replacements as a cath procedure in adults.  Just imagine what they will be able to do in 5, 10, or 15 years.

I know I am biased, but I think Ronan is a reflection of how resilient we can be.  Despite not being able to do tummy time for 8 weeks, Ronan is already rolling around.  Just a few days after getting his hearing aids, he was laughing.  He's chatting, grabbing, smiling, and reaching.  And, more importantly, he is eating and sleeping (12 hours a night!)  He could gain more weight, but he is gaining nonetheless.  I think we forget how resilient children can be and are, especially when they are born with some issue or challenge.

This Christmas holds a lot of firsts for me and my family.  First Christmas with our little man and first Christmas without my dad.  I've been thinking about him a lot.  I decided if he were alive and well, he would have made some toy for Ronan - he was a wonderful wood-worker in his spare time.  He also would have bought an unneccesary amount of toys for Ronan and would have been so excited at how well Ronan has been doing.  Every year he also gave everyone some practical gift, or practical in his eyes.  One year he gave me binoculars and an industrial flashlight.  I wonder what that gift would have been this year.

Christmas was always my dad's favorite holiday, and after seeing my son at Christmas, I think I have an idea why.  Merry Christmas!

Saturday, December 17, 2011

The long road to a diagnosis

After we heard that Ronan had pulmonic valvular stenosis, we thought we were just going to have to deal with a congenital heart defect.  However, once the hospital started pulling in specialists from each area to examine Ronan, we knew there could be more.  It's hard to come to terms with something being wrong with your baby, especially when the baby looks healthy and all the various monitors are happily beeping along as they should be.  His heart rate looked great, his saturation levels were in the mid to high 90's, and he was feeding very well.

One of the scariest meetings was with the geneticist at the hospital.  Luckily, Dr. W is one of the kindest, warmest doctors we have dealt with.  She seemed to understand how difficult it was going to be for us to hear what her findings were.  Dr. W measured every single body part of Ronan.  She noted the shape and form of everything.  She was the one who noted that she thought one pinky nail might be on the smaller side.  I think what must be the most difficult part of being a geneticist is going through all the various things about a baby that are divergent from "average" with the parents.

Paul and I have talked a lot about what "average" is for a person.  No one is truly average.  Doctors come up with these measurements by averaging many other baby's measurements, so it really is true that what you get is not a normal baby.  A few measurements that are different don't mean anything in and of themselves, but add that to other features like a heart defect or hearing loss, and you may be able to put a name to those features.

After hearing the geneticist point out a few things and getting the news about the heart defect, hearing loss, and colobomas in Ronan's eyes, Paul and I were actually the ones who brought up CHARGE syndrome.  It still seems funny to me that we can now google symptoms and present a possible diagnosis to doctors.  I wonder how doctors feel about patients presenting their own diagnoses...

Now that we know Ronan a bit better, and we've met with the geneticist Dr. W a few times, we are left with a "possible Charge" diagnosis.  There are different levels of diagnosing diseases - possible, probable, and definite.  Ronan has 2 - 3 major markers, and a couple minor markers.  As he gets older, we may see markers drop off or get added to his list, which may or may not change his diagnosis.  He just meets the criteria for "possible", which actually makes things easier for Paul and me.  Ronan is eligible for a number of fantastic services through the state of California.  We have a woman who has a masters in early childhood development come to our apartment once a week to play with Ronan and give us things to work with him on.  Once Ronan is a bit older, a speech therapist will come to our house.  If we need it, we will also have occupational or physical therapists too.  Our school district offers programs for children who have hearing loss.  The list goes on and on, it really is phenomenal.  Paul and I feel very strongly that the more we can do with Ronan now, the easier it will be for him.

On an interesting note, I feel that my dad's illness somewhat prepared me for dealing with the complexity of Ronan's diagnosis.  My dad battled a rare disease, MSA (Multiple System Atrophy), not definitively diagnosed until after his passing.  We worked through the terminology and affects of a possible, probable, and definitive diagnosis.  We did the research about other possible diseases that fit the presentation of my dad's markers.  We learned a lot about navigating the uncertainty of not having a definitive diagnosis, and about dealing with a rare disorder with a range of presentations.  Thinking back on it, it really is remarkable how many lessons learned can be applied to Ronan.

Back to the discussion about "average"...  The other complicating factor that Paul and I have to keep in mind when reading about CHARGE or other possible disorders is that there is an average case, but no one is ever average.  There is always a spectrum of severity for each marker, and a different mix of markers for each person's presentation of the disorder.  As Ronan gets older, we'll find out more about where he falls with each potential marker, and if there are more things we don't know about.

I have mixed feelings about a diagnosis for Ronan.  Having a diagnosis does give us something to research.  It gives us things to watch out for and look for with Ronan. In some ways, if we did not have a diagnosis, I could almost pretend that nothing is truly wrong with Ronan.  And to me, I really do feel that nothing is "wrong".  Maybe things are not normal or average, but he is a remarkable baby.   He has such a wonderful personality that is just starting to show.  Kids are so resilient, they can figure out how to compensate for so many things.  My heart just melts when he looks up at me and smiles, and I know that we are going to do just fine.

Thursday, December 15, 2011

Happy 4 Month Birthday Ronan!

Today my little boy is 4 months old!  It's amazing to think about how far he has come in just 4 months of life.  He's gone through a NICU stay, 28 doctor appointments, an angioplasty, and open heart surgery.  All the while, he has recovered quickly and amazes everyone with how well he is doing.

I decided to start this blog for a couple reasons...  I wanted to share with friends and family Ronan's progress.  I also wanted to put Ronan's story out there for others who may be in the same place as us.  Getting the congenital heart defect diagnosis was difficult, but the slow unraveling of a potential syndrome or other genetic issue was and still is frightening.  Unfortunately, when faced with diagnoses like these, the internet is not always a great source of hope and encouragement.  People tend to write about worse case scenarios.  Medical journals profile the most interesting cases, which tend to be the most unusual and extreme cases.  You rarely find a "yes I have that syndrome but I have a wonderfully normal life" blog or article.  It's enough to scare the pants off even the bravest person.

I thought I might start with Ronan's birth story.  I had a fairly unremarkable pregnancy, no real complications.  We did all the normal genetic screenings and the anatomical ultrasound with no red flags or poor results.  Our only complication was that Ronan was stubbornly staying breech, and I was begrudgingly scheduled for a c-section.  The entire pregnancy I did nothing but plan for a natural childbirth, so a planned c-section was pretty much the exact opposite of the birth experience I was anticipating.  Such is life.

The only inkling of a problem that I felt was something an OB doctor said to me.  I met with a specialist when deciding if we should try to flip the baby.  He pretty much told me I wasn't a candidate for several reasons, and then he said something that stuck with me the last two weeks of my pregnancy...  he said, you need to consider that maybe there is a reason your baby has been breech the entire pregnancy.  That set off a flurry of research on my part, and I did find that sometimes a baby is breech because of a congenital issue.  In my heart, I believed that something was wrong, but I kept telling myself that the vast majority of babies are born healthy.

On August 15th, our baby boy was born, pronounced healthy, and handed over to two of the most happy and excited parents.  We spent all day enjoying our little baby until the pediatrician, Dr. S, came to the hospital.  She immediately flagged a heart murmur, and called for a pediatric cardiology consultation.  Ronan had to go to the NICU while we were waiting on the consult - it was heart wrenching after spending all that time with a "healthy" baby.  Once the pediatric cardiologist, Dr. A, arrived, he performed an echocardiogram and found that Ronan had a severe case of pulmonic valvular stenosis.  He believed that Ronan would need to have an angioplasty and likely open heart surgery within a few days.  Dr. A wanted to monitor him over the next few hours, with the pressure gradient in Ronan's heart being the determining factor in when the surgery would be performed.  Ronan's pressure gradient was a 3 at the time, with normal being around 1.  Once he hit 5, we would discuss our options.  The entire conversation with the cardiologist will have to be another blog post, it was interesting to say the least.

Once your child is diagnosed with one issue, the hospital parades around every possible specialist to examine your child and look for any other potential issue.  Although this is needed, it is obviously not easy on the parents.  We were told everything from, well your son's skull may be fused prematurely (it wasn't) to his pinky fingernail is on the small side (who cares??).  They look at EVERYTHING.   I'm not sure what would make this process easier.   

During the five days I was at the hospital, we spent every feeding with Ronan that we could, just skipping the 2am and 5am feedings.  NICU nurses are special people, I have to say.  It really takes someone special to handle new parents who have no sleep and are emotionally drained.  I was discharged one day before Ronan.  Leaving the hospital without my baby was one of the worst feelings in my life.

In keeping with Ronan's personality, he surprised everyone involved with his case by not hitting the pressure gradient milestone, and he was released from the NICU a day after I was released from the hospital.  He's a fighter.  Ronan bought himself another 6 weeks before we had to discuss our options.  Even though he's so young, he has taught Paul and I so much about remaining hopeful and positive.  And about getting second opinions and being a true advocate for your child...  more about that later.

On another note, I was very lucky to have what might have been the easiest c-section recovery ever.  I was running 13 days later, albeit very slowly.  It certainly made dealing with all the doctor appointments, follow ups, and care much easier.  Someone said to me that God doesn't give you anything you can't handle, so maybe my easy recovery was to help me take care of my little boy.

Over the past four months, we have dealt with every possible specialist, had more tests than I can write, and are now working towards a possible diagnosis of CHARGE Syndrome.  Again, I remind you of my earlier comment about how no one ever writes about the "boring" cases, so don't be freaked out by what you find with a Google search.  Syndromes have a range of severity, from barely perceivable to incompatible with life.  Ronan has showed us that he will not be defined by a diagnosis, and that he will surprise us at every chance he gets.