Home of the Four Trans

Justin and I met with ID to discuss his aplenia and a fever plan.

Meeting with the ID doc helped clarify my main concern of what to do when Justin develops a fever. We discussed how to get through the ER without having to wait if Justin develops a fever (by announcing that he has NO SPLEEN), what to expect at the ER (blood must be drawn for a blood culture and an antibiotic injection must be given to protect him over the next 17 hours as the culture grows to show if he has an infection). After giving him the antibiotic injection, we would be sent home to wait for the results. If there is an infection, he would need to be admitted to the hospital for treatment.

Of course, the ER is secondary to the doctor’s office. If we’re able to get to the doctor’s office, we should do so first. The same procedure would be done at the doctor’s office.

He urged us not to treat Justin with Tylenol or Motrin to reduce his fevers. Justin’s ability to produce a fever is like a smoke alarm telling us there’s something going on in his body. He does not want us to turn this off with medicine. It is crucial that he is seen right away when he does develop a fever so that the doctor can take the necessary precautions. It is also important to watch how his fevers develop. The fever should always improve, and not spike upward (let’s say from 101-104) in the course of 4 days. If it does, we need to report it to either him or his pediatrician.

I asked if the fever itself could harm Justin. He answered no. There are some children who develop febrile seizures with high fevers, but that does not necessarily damage a child and his brain.

Because Justin is up-to-date with his immunizations (minus the Hib booster and MMR), and is on a prophylactic amoxicillin, he is protected from the main forms of encapsulated bacteria, mainly, pneumococcal, meningcoccal, and influenza. However, not all. Prevnar (vaccine for pneumococcal) protects him from only 5 different strains.

The ID doc made a point to say that 99% of the time asplenic children develop fevers, it will not be a result of an infection. But, for that 1%, we must be careful all of the time. He stresses that once the child has an infection, and we do not take the necessary measures to care for him, he can go downhill very quickly.

This doctor is much more aggressive in his treating method than the other (not ID) doctors that I’ve encountered. As I listened to him, I understood why. During our meeting, he explained that he has been in the business for 17 years, and he’s encountered 2 asplenic children who have contracted an infection…one didn’t make it through. His perspective is that unless a doctor’s experienced how it’s like to treat a child, and watch a child with no spleen fight a bacterial infection…and see one not make it…they will not understand why it is important to be aggressive from the get-go with treating these children.

With that said, he also acknowledged how “intelligent” our pediatrician is, and will understand if he has his own method of treatment. Although the ID doc’s method is “extreme,” according to him, he’d rather be safe than sorry. But, each doctor will have his own opinion.

We also discussed Justin’s immunization schedule which he will dictate and send a copy to our pediatrician. He explained that Justin will be on amoxicillin until he’s 5 years old. Between the ages of 5-17, his immune system will still be weaker than normal, but strong enough to fight off the bacteria, so, he does not recommend the amoxicillin during those years. If he does develop a fever, then we are to take him to the doctors or hospital right away. The course of treatment at that time will depend on how he is from a clinical standpoint, and we’ll discuss further as we approach that point. By around 17-20 years old, we can worry less, though the risks are still there. His body, by that time will be a little stronger (not taking into account his heart condition).

He gave me a copy of his “bible” that he refers to on treating asplenic children (photocopied pages from his reference book) that he told me to give to every single one of Justin’s doctors, and all those who are treating him. He asked me to bring it to the hospital as well.

I am grateful for having met this doctor. He had great compassion and imparted me with more knowledge than I had before meeting him. I hope by sharing it with all of you, you’ll gain a better understanding, and encourage you to ask more questions.

From the beginning, doctor after doctor have shied away from having discussions with us about Justin’s asplenia. I would ask, and they would tell me that it’s not a big deal, essentially. According to them, the immunizations and amoxicillin are enough to protect him.

Perhaps it is part of my nature to always want to know more so that I can prepare. I was on the brink of annoyance with the brush off, but really pushed the issue and was referred over to infectious diseases by Justin’s cardiologist.

Will all this information and fever plan completely shield my child from harm’s way? No. Does it allow me a better understanding of how to care for and protect my child in the best of my ability? Yes.

I’m a mom, and I’m just trying to do my job.

We ended the meeting with the ID doctor telling me this: “The best way to protect your child is to have a good mom. And, you’re a good mom, a terrific mom. Keep him up to date with the immunizations and keep up with the amoxicillin. He’ll be fine.”

I don’t like being called “super mom” or being told how great of a mom I am (because I’m not. Let’s face it, we all have our moments). But, from him, I’ll take that remark as a compliment because it is coming from a medical professional who acknowledges the role of a parent in her child’s care, even if she’s not a doctor. Thanks, Doc.

The leaky valve is manageable, improved even. Maybe just the slightest bit, but that ever-present leaky (AV canal) valve is a little better now than it was 6 months ago.

A little better is better than a little worse. So, how much it has improved doesn’t really matter to me. The severity of its leakage is subjective to the observer, anyway. But, if you must know, Justin’s cardiologist labeled it as mild to moderate.

This was the highlight of our routine visit to see Dr. Rebolledo, yesterday, knowing that Justin’s heart is checking out “stable.” Even if it’s not perfect, but it could be stable forever and ever and ever…that would be perfect!

The remainder of our discussions revolved around heart transplants and seeing other specialists for Justin’s “other” heterotaxy issues (i.e.; asplenia, GI tract malformations).

As always, the recommendation stands that living with his own heart for as long as possible is more favorable than receiving a heart transplant. But, this is my cardiologists’ recommendation (though he is not alone on this).

If I were to ask Dr. Leonard Bailey at Loma Linda University, he might say otherwise. Check out this article dated back to 1990 that includes an interview with Dr. Bailey on the issue of infant heart transplant.

I realize heart transplanted children have their risks, especially with having to be on immuno-supressent medications. I found an article that gave me a better view into the life of a heart transplant receipient, also dating back to 1990.

However, my Googling has failed to find me any recent articles on Dr. Bailey and his views on heart transplants. The latest info I found on him was in a back issue of Glamour dating May 2007. There was a feature article on a young woman named Leilah Dowsari who was the second infant at Loma Linda University to successfully receive a heart transplant, but the first female infant ever to survive it. She was 21 when the article was published. She received not only 1, but 3 donor hearts. The first lasted for 14 years, the second only 3 years, and the third is still keeping her alive.

I’ve also read about Nicholas “Eddie” Anguiano, then called Baby Moses, who underwent a heart transplant at Loma Linda University. He was the first male infant to receive a human heart transplant and is, now, also 22.

Remember, these young people underwent a procedure that was incredibly new at the time, back in the 1980’s. And, think, how much technology has changed to better the lives of those who must undergo transplant, now.

These are, of course, not medical reports that I’ve read, but, insight into the world of heart transplantation.

One reason I think Dr. Bailey may not seem so vocal about his views on heart transplantation anymore is 1) he’s getting older, thus having less motivation to put his family and his personal life in jeopardy when presenting this possibly controversial view about transplant 2) the three stage procedure and it’s survival rates has improved dramatically in the past 15 or so years that it may benefit the patient to just live with his own heart (as noted in this medical article about heterotaxy and the Fontan), 3) heart transplantation is such a “norm” now that it does not create enough “buzz” in the media.

Justin’s cardiologist is optimistic that Justin has a survival rate of 15-20 years before we will discuss transplant. That’s a long time. Too long for me to even think about. I’m still trying to hang on to him by the day. And, in 20 years, will his body qualify for a heart transplant with all the blood products he received, scar tissue, being an asplenic…But, hey, 20 years is more than 1, or 2, or 5, or 10…

Anyway, I should know by now that life cannot be planned, predicted, premeditated. Sure, we’ll live our lives each day, making plans on how to live it. But, ultimately, what lies ahead is something we cannot conquer until we get there first (as said with such confidence by a person who’s not there, yet. Ha!)

We’ve come this far, baby, and we’ll keep going.

Justin at his first birthday, um, banquet. Mama really outdid herself.

I’m done with being left in the dark about Justin’s condition.

To my disappointment, I have learned that I cannot depend on the doctors to tell me what to do with this heterotaxy child of mine. I mean, he has A LOT of issues in addition to his heart defects. Recall, Justin has:

• malrotated intestines
• left-sided stomach
• mid-line liver
• a hanging pancreas
• a portal vein that crosses over his duodenum

The malrotated intestines and left sided stomach were confirmed by an x-ray. But, it was not until his pediatric surgeon, Dr. James Stein, went in to perform the LADDS procedure (for his malrotated intestines) did he find the other anatomical problems.

Since then, I’ve always wondered what other issues Justin might have that I do not know about. I wonder, what type of tests can be done to see if he has any hormonal or metabolic issues. I wonder if he has any other anatomical abnormalities relating to his lungs, kidneys, and reproductive organs.

No one has addressed these issues while the doctors seem to focus only on his heart. While I understand that his heart defects require the most urgent care in order for him to live, I also question if the rest of his body’s abnormalities affect his heart as well. I wonder, if we address the other issues, would he have a better chance of living, and would the doctors gain better insight about his heart and its function.

I joined an online support group to learn a little more from other parents who have experiences with children with heterotaxy. Through their experiences, I learn what questions to ask my doctors, which doctors to see, and if Justin’s feeding issues are “normal,” and how I should address these problems.

With the online support group, I suddenly don’t feel so alone in the issues that I have to deal with Justin. I gain a little a bit of hope through their insight.

At the same time, I am opening a door to more heartache as I expose myself to stories about those who do not make it. However, being a part of this support group is like being a part of a group of friends. This symbiotic relationship allows us to lean when we’re weak and provide a shoulder when we’re strong.

Justin had a jam packed schedule on Thursday. Here’s what happened:

8:30AM: He woke up for his feeding, played, took a bath, dressed, and was stuffed into the car seat.

9:30AM: We left the house for the Neurology clinic near CHOC.

10:00AM: We arrived at the clinic. Justin watched some older kids play on a table toy, ogled a smoothie and smacked his lips as he watched the 9 year old girl sipping it.  We engaged in some conversation with the little girl and her mother about Justin’s chubby cheeks and their medical conditions (she has Cerebral Palsy and had experienced 2 episodes of seizures in her lifetime. Scary!). Justin kept smiling and waving his little hand (he’s learned how to wave “hi” now).

10:20AM: We get a spot in the examining room. Justin was weighed (17lbs, 4 oz on a digital scale with clothes, splint, and diaper on) and measured (26.5″). I mentioned that that the measurements at the pediatrician’s was different, but that it’s different wherever he goes. So, close enough, I guess. Either way, he hasn’t grown much.

10:30AM: Neurologist walked in. She asked if anyone was concerned with how small he is for a 12 month old. Well, I’m concerned, but his pediatrician doesn’t seem to be, and he doesn’t see cardiology until September. She said I should maybe talk to GI and a dietician to get him fatter. I told her that I expected him to be small, but I am more concerned that he’s not growing much. Will call GI. She assessed him, and these are the results:

• He seems to be cognitively on par for his age
• His hand seems better improved, but he still needs to continue with therapy
• He needs to see an orthopedic surgeon for his right foot that seems to bend to too far to the right. The surgeon can decide whether to fit him for a brace now or later to keep that ankle in the right position. This will be used only when he’s in therapy learning to walk, or when he starts walking. I’ve discussed this with the therapists before and they thought he was too young. Having a brace on this early may hinder other muscle developments. Neurologist felt it would be more beneficial than not.
• He may or may not regain full function of his right side. She cannot predict this. But, he will definitely be left hand dominant, and his right hand will just be a helper hand.
• She would like for him to get an MRI to confirm the reason for stroke, but because he has a pacemaker in, this is not possible unless the pacemaker technology improves to where it will be able to tolerate the magnetic field.

11:45AM: We left the Neurology clinic to feed Justin in the car. He fell asleep while drinking because he was so tired.

12:00PM: We headed to a nearby Barnes and Noble to kill some time before having to head back to CHOC for physical and occupational therapy. I picked up some books, passion fruit lemonade tea, and a 2 square inch block of rice krispies marshmallow treat. Read a little and had a few moments of me time before heading to the line to pay for our things. While in line, I also impulsively grabbed 3 boxes of assorted Godiva for his therapists because we’ll be leaving them soon (boo!) for another program funded by the California Children’s Services (CCS), which is free. Justin continued to sleep in his stroller.

12:30PM: We left to head back to CHOC for his 2 hour therapy session. Little Boo didn’t even cry once.

3:00PM: I fed him in the car in the parking structure. He tapped the bottle with the plastic bottle cap, amusing himself while he gulped down the bottle…a whole 3 ounces.

3:15PM: While Big Brother Nathan was in the care of “Lifetime” (he was taken to “work”), this allowed us some time to visit Great Grandma (G-Ma) before having to pick him up.

3:30PM: Cried upon seeing G-Ma because he probably thought I was going to pass him over to another person, again. He just wanted some Mommy time. Justin sat in my lap, eyeing G-Ma, smiling, batting his arms, waving his left hand, scrunching up his face into smiles while we talked, then, finally allowed her to hold him. She was thrilled to be holding the little miracle baby. She encouraged me to pray, and to continue to believe. The fact that Justin is here, today, is already a miracle in itself, she reminded me.

4:45PM: We headed out during rush hour to pick up Nathan.

The next post will be about how he coped with this busy schedule!

For those who don’t already know, Nathan and Justin both had the same due date, August 15th. Interesting, right? However, Nathan came out naturally on the 13th, and Justin was induced on the 8th. I’ve always wondered if I had allowed Justin to come naturally if both my sons would have the same birth dates.

Anyway, now that their birthday extravaganzas are over, we are back on track with medical issues. On Friday, they both had their scheduled well checks. To minimize the amount of loading into the car and driving to the doctor’s that we would have to do, I decided to schedule both their well checks for the same day.

Here are the results:

Nathan weighed in at 33 pounds and measured at 38 inches tall, placing him at 60th and 64th percentile, respectively. I’m very happy about this since Nathan is known to be a picky, lazy eater.

Of course, Nathan is not Nathan without his usual quirks. Of all things, he was most afraid to get on the scale to be weighed and measured. He backed his butt up against Loi, arching his back, refusing to get on. So, we resorted to the following measures: First, the 5′8 office assistant had to get on the kid-sized scale himself to demonstrate what would be done once Nathan gets on. No harm was done. Yet, Nathan Boy still refused. Second, Loi tried to carry him on, but he’d pull his legs up, just as he did as an infant when we encouraged him to stand. Though Loi was able to get on the scale, with Nathan wiggling all about, no success was made with the weighing. I returned to the examining room to wait for him, knowing my child well enough to realize that you cannot force or coerce him to do anything. He just has to decide for himself if he wants to do it or not. Soon after, he comes running into the office to find me, and agreed to me carrying him on the scale to be weighed. As for his height, he allowed the pediatrician to walk him to the scale, hand in hand, without a single complaint or wriggling, to be measured. Loi and I stayed back at the examining room confused by our son’s moodiness. So, after all that drama, he had one booster shot. And, guess what? He didn’t make one peep…only a scrunchy face. Typical Nathan.

Justin weighed in at 16 lbs 11 oz and measured 27.5 inches. This was all very concerning to me because that means that he only gained 5 oz in 3 months, and barely grew an inch. His weight is no longer following the curve, but is below it. So, basically, he hasn’t gained any weight.

The pediatrician, Loi, and I discussed his feeding habits at home, and about his recent cold, and teething, and they came to the conclusion that his inability(?) to eat, or lack of eating has slowed down his weight gain. I, on the other hand, am worried that it may be something else. In the past, he’s been able to gain at least 1/2 a pound a month. We are going back to fortifying the formula to increase his caloric intake. We are encouraged to feed him a lot of formula, versus spending too much time on eating solids, although he should have both. We were given the OK for feeding him diary and egg products, but still no nuts or seafood. And, for those wondering, he still needs to be on formula since it will provide him with more calories and vitamins than regular cow’s milk. His ability to digest the cow’s milk is another issue we need to look out for. It seems he may be on the (expensive) Good Start formula for another 6 months.

In a month, we are scheduled to return to the peds for a weight check. Argh. Feedings and weight gaining are such big and frustrating issues. However, I hope that it’s nothing involving his GI tract, although I would like to see a GI doc for his opinion on why Justin may be eating less and throwing up more, now.

Anyway, will keep you posted. Thanks for checking in on our little ones.

Our hotel room in San Diego overlooking Mission Bay was quiet. I was the first one up after a long night of Nathan’s screaming. He was then sprawled across the king sized bed, with his arms and legs contorted in an unnatural position, and his head tilted back, breathing in every ounce of sleep. Loi was rolled to the edge of one side of the bed. I had been called up by Loi’s mom to fetch some breakfast in the Regency Club room (where they served 2 meals a day for an additional fee to the room, plus unlimited free water, coffee, and hot chocolate).

Before starting my day with a tooth brushing, hair combing, and face washing, I stopped by the sectional-turned-bed to check on Justin. He laid there on his back, with his head against a white, fluffy pillow, eyes closed, breathing comfortably, with his arms in a u-shape above his head. I lingered at this sight for a few minutes, taking in the fact that he was here with me, breathing. My stomach fluttered. It was like looking at my newborn child for the first time in complete astonishment that this child was mine. Like, how the heck did this happen? I have a child! But, in this case, it’s more like, he’s mine, and not completely perfect, but so perfect, and he’s here…still here.

And, we were on vacation. 16 months ago, I could not have fathomed taking Justin anywhere beyond the hospital and our home (remember, germs?). This past week, I’ve taken Justin to Disneyland (uh, germs central) to view the Electrical Parade and to absorb in the Disney scene, and on a boat ride around Mission Bay Lake in San Diego. He’s sat in restaurant high chairs (that were sanitized and covered in our own seat covering material, of course), lounged by a very busy public, hotel pool underneath a cabana, and experienced a bonfire while his cousins and brother were roasting marshmallows for their smores.

The chaos generated by his cousins, Nathan, admiring strangers, and activities sometimes distracted me from seeing this all for what it is–that Justin was alive and well enough to appreciate the chaos. He would squeal ahhhhh! in delight, bat his arms up and down, and bounce on his bum whenever anyone spoke to him. Or, he’d look for some attention, just by staring someone down until they’d say something to him. Sometimes, he’d even play hard to get and turn his head into my shoulder as though he was shy.

Although I’ve loosened up a bit, reality is I’m still scared as heck that something, anything could happen to him. I find myself still checking on him (to make sure he’s breathing) every so often while he’s napping or sleeping. I look out for signs of his heart or pacemaker failing–is he puffy? pale? breathing fast? not eating well? tired too often? different?

He’ll be turning one this coming Friday, but, I find myself not really wanting to talk about it. Don’t want to say why…

But, this past week has made me realize how far my Justin has come, and how much my perspective has changed. Very few moments that I spend with him are wasted on thinking about what I’d be doing next or in the future, and where we are headed. Every moment I spend with him is for him for that moment. I focus on appreciating the fact that he is breathing, alive, and happy…so happy.

I must admit that the darkness of the night, in my bed, is where I’ll reserve for my deeper, more anxious thoughts about surgeries, heart transplants, insurance, bills, etc. I’m only human, and fear will sometimes persuade me.

As always, though, seeing his smiley, sunshine face reminds me to appreciate, appreciate, appreciate.

While I was discussing the Montessori method with the school’s head coordinator that I’m enrolling Nathan in, I found an opportunity to discuss how the Montessori method may help Justin’s cognitive, motor, and other physcial developments. Per my readings of Dr. Montessori’s translated writings, her method was developed to help children gain autonomy, especially those who are “disabled.” Justin is certainly not disabled (not in my book), but he is definitely delayed because of his heart surgeries, stroke, and poor heart function. I wanted to gain information about how the program was designed for the younger 18 month children, and how it may help Justin. In the process of learning about the Montessori method, I also learned something else.

When I mentioned Justin’s heart defects and saw her facial expression unaltered, I knew that she had some insider information.

“Does he have Tetrology of Fallot?,” she asked me.

I then explained to her, shortly, Justin’s heterotaxy and multiple heart defects.

Then, I asked her if she knew someone with ToF. She said, “Yes, my son.”

At that point, we engaged in a conversation about her son and his journey.

Q: When did he have his surgeries and how did he do developmentally afterwards?

A: He’s now 18, had his first surgery at 10 months old, second at 14 years old to replace a valve. He’ll continue to have valves replaced as they wear and tear. Although he was small for most of his life, he caught up after the second surgery as his heart became more efficient in pumping oxygenated blood throughout his body. He was able to army crawl up to 10 months, but after surgery was forced to crawl off the ground to be off his chest. No one could tell that there is anything wrong with him just by looking at him. He just graduated high school. The only developmental set back was him being diagnosed with ADD at 14 before his second heart surgery. She believes that the lack of oxygen throughout his body affected his brain activity and behavior.

Q: How is it dealing with surgery as he gets older?

A: She’s a proud, tough mama. It was never difficult for her to tell her son to get up and go when he’d rather whine in bed of his pain. She knew he was in pain, but she also knew that he could push himself. In preparation of the second surgery, she did not tell him of his surgery date. She planned a Hawaii trip and told him on the plane on the way there. By the time they got back, he had no time for anxiety as the surgery was the following day. He was upset with her, but, it worked out fine. (I think I will have to include Justin in on the plans.)

Q: Where were your surgeries?

A: The first was at Millers Children Hospital in Long Beach by Dr. Bethencourt (I was originally assigned here by my HMO), and the second was at Children’s Hospital of Orange County by Dr. Gates (I considered this surgeon). She was amazed by how much medical technology had improved between the first surgery and the second.

What I learned? I’m not alone and there are many families dealing with children with heart defects. I realize that our sons’ conditions are not the same, and neither are their prognosis (Justin’s is worse). But, with each story is so much hope. Medical technology is amazing. I am in complete awe of how much opportunity Justin has been given at life already. Three or four decades ago, he would have been sent home for “compassionate care” without a chance.

Thanks heart mamas for sharing your stories. I’ll keep praying and hoping for more miracles.

I went to work today. Yes, work. For eight hours, 3pm-11pm.

It’s been a year since the last time I actually worked, and it felt a little…liberating.

It’s been a year, but I still got it. Aside from some things slipping from my mind, my organizational skills when coming to running a (200 people) wedding reception is awesome. I had forgotten how good I was at timing things and getting things done on par or beyond the bride and groom’s expectations. Of course there was a team of servers, kitchen staff, cooks, etc., etc. But, it still amazes me how I can handle so many people and not feel overwhelmed. And, I handle what others may perceive as stress pretty well. Tooting my own horn, that’s for sure!

I suppose this life at home with my children does make me question how I’d relate to the “real world” if I ever were to re-enter it. I question whether I’d forget my skills and quick mindedness. I wondered if I’d ever forget who is me as the role of Mommy in Little Boys Kingdom has quite defined me.

But, when the bride and groom hugged me at the end of the night, thanking me for “everything,” I knew I had done my job well, and that I am still very capable. Every aspect of the itinerary was followed flawlessly, from lining up the bridal party for the grand entrance to the timing of the bouquet toss. Yes, I am goooood.

When Loi asked me if I “missed it,” though, I had to pause a moment to gather my thoughts. If by ‘it’ he meant working as a wedding coordinator, yes. If by ‘it’ he meant being at work for long hours six days a week and never seeing my children? No way!

At the end of the day, my children come first and my personal fulfillment comes last. I wouldn’t say I’m completely selfless, however, because being with my children actually creates great personal fulfillment.

Nonetheless, I am still me, a girl who loves to sing, write, dance, daydream, read, talk too much, learn, and work. So, yes, I do miss work sometimes as it allows me to fulfill an aspect of me.

Do I want to give up my time with my little Bubba and Googleybear? Uhhhhh…………how about in small doses? Let’s start there.

I am definitely feeling the anxiety(of losing my children or of them getting sick if I’m not there)burn away a little and gaining the confidence to conquer the world, again. Really. Because of them, I feel like I can do anything.

Now, I must tend to my poor feet that withstood 8 hours worth of nonstop walking and standing in 3 inch heels. What was I thinking? Too eager to “dress up” again, I suppose.

I came across this press release from June 2007.

“The same genetic defect that causes a rare respiratory disease may also lead to some types of congenital heart disease, according to a study from the University of North Carolina at Chapel Hill School of Medicine.

The link between the two diseases starts with cilia, the tiny, hair-like extensions that help the lungs clear of mucus and remove contaminants such as dust. The researchers first noticed the connection in children with a respiratory disease that affects cilia, primary ciliary dyskinesia (PCD). A genetic mutation that impairs cilia movement causes the disease. A few children treated for PCD at UNC-Chapel Hill also had heterotaxy – an abnormal position of the heart and lungs associated with congenital heart disease.

The research team wondered if PCD and heterotaxy were related because other types of cilia, called nodal cilia, are known to play a role in directing and organizing organs in developing embryo. Results of the new study indicate they are connected.

The prevalence of heterotaxy and congenital heart defects was 200-fold higher in people with PCD than in the general population (one in 50 versus one in 10,000), the study found. The research appears in the June 5, 2007, issue of the journal Circulation.

“This should spur physicians treating patients with congenital heart disease to be more vigilant about testing for and treating respiratory defects,” said Dr. Michael R. Knowles, professor of pulmonary and critical care medicine and study senior author. “It is critical for families and physicians to recognize when congenital heart disease develops.”

Children with both heterotaxy and congenital heart disease typically undergo surgery to repair heart defects, and if they have respiratory complications after surgery, it’s often assumed that the cause is their heart problems, Knowles said. But the study indicates these children’s respiratory problems may also have an underlying genetic cause.”

Now, here’s a possible clue as to how heterotaxy and congenital heart disease occurs. What’s nice about this piece of information is it also allows me the knowledge to ask my cardiologist or pulmonary specialist or any doctor that can and will listen for testing for Justin. There are many types of genetic testing that may be done. But, if we not know what to ask for, we won’t get it.I would also like to note that I was never offered this information in the past year while dealing with Justin and his heart issues, while my friend over at Chloe’s blog has been offered some about it. So, it may be that this is not a widely recognized explanation to heterotaxy and congenital heart disease. Nonetheless, it is worth finding out if my child has respiratory disease that I should be aware of. Then, when a cold arises, I will be better equipped as to how to approach it.In more recent news, National Heart, Lung, and Blood Institute is sponsoring a study that will “examine genetic material obtained from blood and tissue samples of patients with CHD and heterotaxy to gain a better understanding of these disorders and of a lung disease called PCD. CHD is prevalent in patients with heterotaxy. It is believed that certain forms of CHD or heterotaxy may have the same genetic origin as PCD.” Read here to learn more.On the way to answers? 

Justin’s first birthday bash plans are underway. The invitation promises of a party “fit for a king.” A lion and crown adorn the tangerine and green card. I’m excited. I love parties, love my Justin, still can’t believe he’s turning one. There’s still 3 more weeks till the big day that I am almost afraid of believing it. Anything can–wait, I don’t want to say it.He has this cold that went away and came back. I’m assuming that he got it from Nathan. But, I’m still concerned. Called the cardiologist yesterday because his eyes had been getting progressively puffier for 3 days. But, then, it went away. I guess Justin didn’t want to take that extra dose of Lasix the doc ordered for him.

 Today, I read through a blog about a mother trying to find answers to her 5-year old daughter’s heterotaxy condition. This child was not diagnosed until she was 5 years old. After pushing for 3 years, this mother finally got a diagnosis for her daughter’s, Chloe, condition. Fortunately for Chloe, she has a good prognosis and does not show any signs of congenital heart disease that is often associated with heterotaxy. I read through this blog and left inspired.

Justin has heterotaxy. This was diagnosed by the wonderful Dr. Michael Rebolledo while inutero. The early diagnosis saved us a lot of heartache and emotional turmoil because we were allowed some time to grieve this loss of a physically perfect child before he came into this world. When he came into this world, we were prepared, not shocked. Our minds were on straight, enabling us to make the best decisions for his health and well being. We knew that with this complex heterotaxy condition came a set of congential heart defects. We knew the set of congenital heart defects he may be born with: double outlet right ventricle, unbalanced atrioventricular canal, pulmonary valve atresia, situs inversus with levocardia. We knew that he would need open heart surgery in the first week of life to have a modified Blalock-Taussig shunt put in. We knew that it would be likely that he’d need a minimum of 3 heart surgeries to maintain his life, including the Glenn and Fontan; heart transplant will eventually be part of the plan when his own heart could no longer work for him. We knew that his complex heterotaxy would mean his stomach was on the left side as was his heart. He had the potential of having malrotated intestines (which was confirmed through a GI exam at CHLA after his first heart surgery, and has been “corrected” with the LADDS procedure). He would be asplenic (no spleen).

For the past year and a half, we have learned so much about Justin’s condition. In addition to those stated above, Justin’s general surgeon, Dr. James Stein, also found that he had a preduodenal portal vein and an annular pancreas. His liver is larger than normal. We also learned that Justin’s asplenic condition would have him with double AV (atrialventricular) nodes, while a normal person would have one. Having 2 AV nodes would lessen his chances of getting an artificial pacemaker put in because when one node doesn’t work properly, the other would kick in–not in Justin’s case. He developed arrhythmia sometime between his first heart surgery and second. He ended up needing an artificial pacemaker put in during his Glenn procedure.

Loi and I have accumulated more medical jargon than we had bargained for. We’ve developed a greater compassion for children and the disabled. We’ve learned of the various heart foundations and where to donate to. We’ve experienced the hospital life. We’ve met other heart families and joined in their journeys. We’re learning about the “system” and how to get it working for us in getting therapy and aid for Justin.

We’re moving along, getting through day to day, changing, trying to make a difference, to spread awareness…Yet, I realize, we’re still where we started from…clueless. Chloe’s blog reminded me that there is so little known about the heterotaxy condition. I’ve realized this, but have somehow placed it secondary to Justin’s heart defects, as those raised an immediate threat to his life; without proper function of his heart, he’d cease to exist.

But, this heterotaxy condition is no less important. It is the very basis of his heart condition. Somewhere during the embryonic development, something went horribly awry (but what?) that caused the rest of his development to mess up. In Chloe’s case, there may be a genetic link. In Justin’s case, we’re still not quite sure. We’ve been told that it’s not genetic. We’ve had genetic testing. But, I’m considering more.

Whenever I mention heterotaxy to the doctors, I’m made to feel like it’s not a big deal, that I should just concentrate on his heart. But, with heterotaxy, there are a group of health problems that I should be aware of depending on whether he’s situs inversus or situs ambiguous. Knowing which category he falls  in would better direct me to find answers.  According to my readings, Justin’s heart anomalies correspond with the situs ambiguous group.

Because Justin’s condition is so complex, I will be contacting a specialist in Immunology, Infectious Diseases, and possibly Pulmonary to obtain a better understanding of Justin’s condition and how to keep him healthy. While I agree that Justin’s heart is priority, I also believe that I need to know as much as I can about how the rest of his body works. How the rest of his body works affects how his heart works and vice versa. I need to know if his colds are normal and with a child with his set of anomalies, what is normal, for him?

His birthday party is approaching. I was looking forward to this lull in the year prior to his Fontan. Yet, I know, in this life with Justin, there is no such thing as a lull. I’m forging forward to find some answers for my baby boy.