Sunday, January 29, 2012

Where's Mommy?

Well, our little boy has been quite busy hitting a variety of milestones!  It's amazing how quickly babies change and grow, and Ronan has done a lot of that the last few days.

Ronan's biggest gains this weekend have been with tummy time.  Tummy time has been difficult for Ronan.  He missed out on about 2 months of tummy time while he was recovering from his heart surgery, and he simply hated it for the last month and a half.  Only recently has he decided that he can hang out on his tummy without screaming.  I'm surprised that our neighbors still speak to us.  Anyway, Ronan has gotten up on his arms and lifted his head, and rolled stomach to back!  We were so excited to finally see some progress.  Sometimes with kids you keep practicing all these different things, and you don't see any changes.  Then, all of a sudden, they make all this progress.  It's like something just clicks for them.  The little wheels are turning, then everything falls into place.  It's fascinating to watch.

Ronan is also sticking his tongue out, socially smiling all the time, and laughing more than ever.  My favorite laughing story happened today, when he kept holding his hand up, looking at it, then laughing at it.  He also likes to laugh when I hold my phone up to take a picture.  Maybe he's laughing at how often his mommy takes his picture!

Another exciting moment was when Ronan responded to the sound of a toy.  Ronan has hearing aids, but it's still hard to tell how well they work for him.  It's not like you can send a 5 month old into a booth and do the hand raising hearing test.  :)  Anyway, he heard a crank toy and smiled.  Now every time you crank the toy out of his sight, he smiles.  I love it, it was incredibly exciting for me to see him respond to something based purely on its sound.  Ronan is also getting very chatty, which definitely makes me feel more comfortable with his hearing aids.

My proudest moment so far as a mommy was on Saturday.  We had our developmental play appointment, and while our specialist was working with Ronan, she kept asking, "where's mommy" and signing mommy.  After each time she said that and signed it, Ronan looked over at me.  I moved all around the room, and he still found me.  It was such an incredible moment when I realized he knew who I was.  However irrational it sounds, I worry about him forgetting that I'm his mommy since I have to leave him for so long each day.  I try to remind myself that going to work gets Ronan his wonderful health insurance.  It lets us get the things we need to support him.  It allows my husband the freedom of working in the start up world.  And I do love my work, I just wish I could bring my little boy to work every day!

Ronan has a big week coming up.  We have a cardiology follow up, two genetics appointments, and two appointments to get his helmet.  Keep us in your thoughts for good and easy appointments please!

Santa Monica pier

Brunch on a lovely morning

Saturday, January 21, 2012

What the heck is a coloboma?

When I talk to people about Ronan's overall diagnosis, the question I get most frequently is regarding his colobomas.  Colobomas are rare, and occur prior to the baby being born.  Basically, part of the eye did not finish forming.  A coloboma can affect:

  • iris
  • retina
  • choroid
  • optic nerve
Ronan has a coloboma of the optic nerve in one eye.  This affects one in every 2 million births, so it is an extremely rare condition.  Optic nerve colobomas have a variety of affects on vision.  A child may have little to no vision issues, or could be blind.  We are very lucky that in Ronan's case, his vision seems to be developing normally, and he does not show signs of large fields of vision loss. A big determining factor for vision is if the retina is well formed.  Ronan's retinas are both fully formed - this is a very positive sign.  Also, his particular coloboma is not what's called a "Morning Glory" coloboma, which is typically far more severe of a diagnosis.  Our eye doctor, Dr. D, mentioned that he's had patients with far more severe colobomas than Ronan who have normal vision, so we are hopeful that Ronan will continue to develop his vision!

The part I find most interesting as we have been navigating the world of genetics, and researching Ronan's diagnosis is how interconnected each of his issues can be, and what might have caused some of his symptoms.  From a personal standpoint, I am going look into possible thyroid issues in myself - undiagnosed thyroid problems in the mother have been linked to colobomas.  Another point that I've thought about is that during weeks five and six of pregnancy, the baby's heart, inner ears, and eyes are starting to form.  It makes me wonder if something happened during this particular week for Ronan.  I know there is no way to know, but as a mother I will always wonder if there was something I could have done differently during that period of pregnancy.

Ronan's diagnosis of colobomas, along with his possible CHARGE diagnosis, makes him eligible for benefits through the deaf-blind association in California.  Although he seems to be developing his vision appropriately for his age, I think I will still have him evaluated through that organization.

Speaking of development, Ronan is laughing more and more.  Last night every time I rubbed my nose on his, he would laugh hysterically.  He's also using both his hands to hold up toys, and he has found his feet.  All great development milestones!
What are these things??

Sunday, January 15, 2012

Happy birthday to my boys :)

Happy birthday to both my boys!  Today is my husband's birthday, and our little Ronan's 5 month birthday.  I am so happy to be celebrating these events with our families!

Today I have been thinking a lot about support.  I know there are moms and dads out there who take care of their children on their own.  Even moms and dads who take care of sick children on their own.  I can't even imagine.  I am so blessed to have a wonderful husband and best friend to stand by me and support me.  There is no one I would rather go through this with than Paul.  He is able to keep a level head, cheer me up, and be just a wonderful father even when things become difficult.

While we were at Children's Hospital, a nurse said to Paul that she was surprised we got along so well.  She said they see so many families break apart when such difficult times strike.  Paul and I spent a lot of time talking about this conversation, and about how Ronan has strengthened our marriage.  He's brought the best out in us, which I think is remarkable for such a little guy.  I do have to say that had we not had a solid foundation, I'm not sure how we would have done with a new baby, hardly any sleep, and a stressful situation regarding heart surgery, etc.  I am unbelievably lucky to have such a wonderful husband.

While we are on the topic, I would like to mention how amazing our friends and family have been.  Our families and friends have been here for anything from letting us take a nap to offering advice to calming our nerves.  They have cleaned our apartment, made us dinner, and changed countless diapers.  They have walked our dog, run errands, and just kept us company.  It has meant more than we can ever express to hear from so many people.  The best part about writing this blog has been the calls, texts, emails, comments, etc from so many people.  It makes it just a bit easier.

Going through a chronic illness with my dad last year, I do know that it is often difficult to know what to say or do when someone is going through such a situation.  I can honestly say that anything said or done is the right thing.  Anything is encouraging.  We are truly grateful.  Paul, I am truly grateful for you.  And Ronan, keep up your amazing progress!

Saturday, January 14, 2012

Cranial Facial Team Rocks!

Last week was full of milestones for us.  Most notably, I returned to work and Ronan had his first cranial facial team appointment at Children's Hospital LA.  I survived the first week back, but I have to say it is nothing less than heart breaking to leave your baby every day.  I hope it gets easier.  It really makes me hate the LA commute - my goal every day is to be as productive as humanly possible when I am away from Ronan.  But, I have to give a shout out to CBS.  CBS and my boss have been amazingly supportive through my pregnancy and Ronan's bumpy first few months.  Had it not been for my manager and team, not to mention I work in an awesome industry, I would have had a much harder time going to work every day.  And we get fabulous medical insurance :)

Who could leave this cute little pooh bear??
I digress.  The cranial facial team is the best thing that has happened to chronically ill children since, well, I guess Children's Hospital.  For those of you who aren't familiar with the terminology, cranial facial team refers to a group of specialists that you meet with throughout the course of one day several times a year.  Your child has to be referred to it, and our fantastic plastic surgeon referred Ronan to the team.  So on Wednesday morning last week, Paul, Ronan, and I packed up at 6am to spend the day at Children's Hospital.

I still have a wild range of emotions when I walk in that hospital.  I think about when Ronan was wheeled away from us to his open heart surgery.  I remember hearing when he was off the heart-lung machine.  I can still feel that first time I held him in the cardiovascular intensive care.  We will never forget all the other children we saw during our time there and the parents we met.  It is a very humbling experience.  I have to be honest, when you are there, you spend a lot of time looking around, wondering where your child falls in the list of very ill children there.

Our goal last week during our team appointment was twofold - get 2nd/3rd/4th opinions about Ronan, and to (hopefully) not be surprised.  There was a period of time early on with Ronan where we felt that every doctor appointment brought some kind of surprise, and not usually a good one.

Ronan met with a dentist, ENT, audiologist, speech therapist, geneticist, psych consult, and plastic surgeon.  Not surprisingly, Ronan has no teeth, so the dentist appointment went off without a hitch.  It was nice to start out with such an easy appointment.  But on a more serious note, the dentist did not think that Ronan would have any issues judging from his examination.  No new information from the audiologist or ENT.  When we met with the speech therapist, I did ask how early a child can start speech therapy.  Apparently, 4 months is not too early.  I have to say I cannot imagine what a speech therapist does with a child this early, but I am now looking into this for Ronan.  We want to stay ahead of the curve with him!

Our geneticist appointment was very interesting.  We loved him.  He had a great mixture of passion and interest in CHARGE Syndrome.  He had a wealth of information and resources he offered to us, and seemed to be genuinely interested in educating us.  We really appreciated that fact.  Specifically, he is going to introduce us to one of the foremost researchers with CHARGE Syndrome.  Hopefully, more interesting things to come on that front.

Dr. L, our fabulous plastic surgeon who helped Ronan with ear wells, met with us at the end of the day.  We have been talking to a number of doctors about a helmet for Ronan.  Ronan has spent so much time on his back after his heart surgery that the back of his head is somewhat flat.  Also, he has slight frontal bossing, which is basically a broad forehead.  It is a characteristic of CHARGE Syndrome, although from looking at Paul's baby pictures I think Ronan may have that same forehead.  But, when you think your child may have some kind of syndrome, you end up scrutinizing every feature.  Ronan is probably borderline for getting a helmet.  Maybe being super vigilant about placement and lots of tummy time would reverse the flattening of his head, but Paul and I feel that Ronan will already have challenges in life.  Why not do whatever we can now to mitigate challenges, especially when no one will care?  What person will make fun of a 5 month old for wearing a helmet?

Apparently, not many CHARGE kids have been treated with a helmet, despite their typical cranial features.  We are lucky that our plastic surgeon is an out of the box thinker, and willing to try this.  We want to try any non-invasive treatment that could help Ronan.

That wrapped up our 7 - 8 hour day with the cranial facial team.  It was honestly the only doctor appointment that we left feeling hopeful and not deflated.  We left the cranial facial team hopeful that Ronan will continue his wonderful, upward trend.  And thankful for the wonderful little boy we are lucky to call our own!

And I leave you with a short clip of Ronan seeing bubbles for the first time - poor kid was terrified.  But he apparently ended up loving the bubbles :)

Sunday, January 8, 2012

Doctors say the darndest things

Ronan has been to his fair share of doctor appointments.  Probably more than I've been to in my lifetime.  Don't get me wrong, I absolutely adore the majority of the doctors who work with Ronan.  There is a special place in heaven for those who work with sick babies.  Doctors are wonderful people, but sometimes they say some ridiculous things.  Interestingly, these comments seem to happen most often with ophthalmologists.  I don't have a running theory on why the study of the eye results in some strange doctors, but for some reason it does.

While Ronan was in the NICU, we had a parade of doctors and specialists come through to examine our little boy.  When the ophthalmologist came through, we found out that Ronan has colobomas.  To digress a moment, a coloboma is when a structure of the eye is not fully formed.  It can be in the iris, retina, optic nerve, or choroid.  Basically, that part of the eye failed to close up completely during development.  In cases where the coloboma is in the iris, you can actually see it.  Ronan has a coloboma in one eye in his optic nerve, and a dysplasia of the optic nerve in the other eye.  This is a common and major marker of CHARGE syndrome, although there are a host of other syndromes that can present with a coloboma.  Colobomas can result in vision problems ranging from sensitivity to light to field of vision loss to blindness.

Once we knew we needed a pediatric ophthalmologist, we did a bit of research and asked around, finding Dr. W.  Dr. W is a fantastic and well renowned pediatric ophthalmologist, but what we didn't know was that he has, well, an interesting personality.  He was cocky, and didn't really want to listen too much to Paul and my observations concerning Ronan's sight.  Once he dilated Ronan's eyes, he immediately proclaimed that Ronan had colobomas in both eyes, and that he "could be blind or his vision may not be affected".  What kind of person tells a new parent that their child may be blind or may have perfect vision??  Just say that you don't know what the affect is.  Or perhaps find a better way to let the parents know the range of issues.

Dr. W was not done though with his diagnosis.  He called in a new colleague to take a look at Ronan.  While his colleague was examining Ronan, he turned to us and said, if anyone tells you that this can be fixed, they are lying to you.  Then he says to his colleague, how many years do you think it will be until you could repair this?  I think the colleague was caught off guard, as were we.  Apparently Dr. W estimates it will be approximately 500 years before we can repair a coloboma.  It was honestly the most ridiculously conversation I've had in a doctor's office.

On to the next eye doctor appointment...  we decided not to go back to Dr. W.  We found another wonderfully regarded ophthalmologist, Dr D.  We went back when Ronan was 4 months, about when we should be able to gauge if Ronan is developing vision and if there are massive vision issues.  Dr. D examined Ronan, called in three other colleagues, and discussed his case with them.  I found Dr. D far more professional, and I loved that he was involving others with Ronan's examination, especially considering how rare colobomas are.  My only gripe with Dr. D was that he kept saying, "you might want to get that checked out."  It made me feel like we took our car in for repairs.  He would point out a feature or issue that he potentially saw, would say that exact comment, then move on.  I almost told him that I felt like we were discussing car repairs.  The only thing that kept me from saying something was that I was so relieved that he thought Ronan's vision was unaffected that I didn't have the heart to tell him that.  Part of me thought he might change his mind if I told him!

I think it takes a special person to work with little children, so maybe your knowledge of how to work with adults suffers.  I don't know.  But I can't tell you how funny some of the conversations have been with the doctors.  At some point, I'll relay our interesting conversion with our cardiologist after Ronan's birth, and the resulting conversation my husband had with him afterwards.

On another note, Ronan is learning to laugh.  It might be the cutest thing I've ever seen.