Surgery Date.

So we got the call today.  The call from….scheduling.  I knew this day was coming.  But to hear a date.  An actual pre-op, cath, and surgery date has literally made me sick to my stomach.  The worst part…we have to be there June, 8th….his birthday.  It’s like a sick joke.  Having a very very hard day today.

Not to mention he has been very very blue this entire week.  I thought to myself thank goodness we are going to be in Boston in a few weeks.  Then to find out this afternoon it’s not till June.

I haven’t wanted to Pulse Ox him (check his O2) because honestly, I don’t want to know.  But I thought since now it was going to be so long before his surgery I would look.  Ugh.Ugh.Ugh.  It said he was 65-70.  I haven’t seen the 60’s in so very long.  I feel sick.  I rarely have a pity party for myself because Logan is the one that bares everything, what do I have to complain about? But today, I have fallen into self-pity, anger, frustration, and sadness.  I am so pissed off that Logan has to be cut open again.  It’s so unfair.  So very very very unfair.  I am at the same time fully aware of how lucky we are to live in a time and place where he can have access to the best care, I know all that.  I just look at his sweet little face and his silly hair, and I just want to take his place so bad.  I wish I could just go thru this for him.

I told our pediatric cardiologist when I was still pregnant that my absolute worst nightmare was to get him to be 2-3 years of age and then lose him.  We can’t lose him now.  I am so scared.  Absolutely terrified.  The only relief that I feel in all this is that we Dr. Pedro Del Nido.  He could not be in any better hands.  That is what I hold on to.

There are so many scary things about the Fontan.  I don’t even have the stomach to get into right now, but it’s not just the surgery, there are all sorts of complications that can happen from the Fontan that are awful.

Just a really crap day.  I had no clue it would be so upsetting to get an actual date.

The emotional stamina it takes to get thru all this is just staggering.  I feel so beaten down.  I feel like I have been punched, kicked, thrown in the street, drove over repeatedly by a dump truck…and now someone is saying to me, ‘hey, get up, we have to go climb mount everest now.’

I rarely do posts like this, I try to keep strictly to the facts about what is going on in our life.  But this is the facts of our life.  I was explaining to a friend of my how precarious Logan’s life is.  I said its like being an Olympic Ice Skater.  I feel like for the past 2 years we have landed triple axles, and now we are coming up to the last one….

The amount of time, research, and ABSOLUTELY meticulous care it took to get Logie to wear he is right now would really surprise most everyone.  Logie didn’t get lucky, I fought like a crazed lunatic, to get him to the best surgeon/hospital that I could find that could fix him.  I was told twice Logan needed surgery at a different hospital and only because of the meticulous research I had done, did I know to say NO to those surgeries.    It’s because of me that he is alive.  I know that and everyone tells me that.  Well, what if I am missing something now?  What if I didn’t read some new research?  What if there is actually a center in Asia that could do better?  What if we waiting a year or two more and there is some new technology and he wouldn’t need the Fontan?  What if that surgeon in California that is growing stem cell arteries could do something for him?  It is so much pressure.  So so so much crushing pressure.  I feel at my absolute very weakest and I am being asked to perform my last triple axle…. I am skating around that turn, slowing down to prepare…..

Advertisements

Pierce featured on CHB’s Website

Social media helps bring very sick patient to

Children’s

by Tripp Underwood on December 21, 2011 (taken from CHB’s blog)

Pierce Heilinger recently underwent a complex surgery at Children’s Hospital Boston that may have saved his life. The young patient’s story has resonated deeply with parents who use social media, and even though many of those people had never met the child or his family, that online support system was instrumental in bringing him to Boston.

Pierce has heterotaxy syndrome, a birth defect that involves the heart and other organs. Normally the human body has organs that grow on both sides, like the lungs or kidneys, and others that develop on a specific side, like the stomach or liver. But with cases of heterotaxy one or more of those organs may be reversed, including the heart.

In researching her son’s condition, Pierce’s mother Jessamyn learned that despite being an extremely rare condition Children’s Hospital Boston has performed over 100 surgeries to correct heterotaxy syndrome in the past few years.

In her search she also came upon a group of internet-savvy parents—many who have children with heart defects— including several whose kids were treated at Children’s. Collectively these moms tapped into their individual social networks and through forums like Facebook, Twitter and blogs they were able to raise enough money and awareness around Pierce’s situation to bring him to Boston.

Baby Pierce’s condition may be rare, but the strength and passion his mother showed in arranging his care is not. There are tens of thousands of parents whose children are battling illness, and like Jessamyn many are using social media to educate people about their conditions or support others facing similar situations. Individually these outlets represent a small portion of the Internet population, but together they have a powerful voice that can be heard by millions.

The movement that brought baby Pierce to Children’s is proof of their collective strength.

As the online experience becomes more personalized, this type of interactive communication will become more and more common. And for parents dealing with the stress of childhood illness that deeper connection to others who share their fears and frustrations can be very comforting. But like with all online medical information, these forums should be approached with a buyer beware mentality; health information is only as valuable as the source providing it. With so many medical sites and forums competing for digital readership, more than a few inaccurate pages have attracted followers.

Fortunately for parents interested in pediatric heart conditions, there’s The Heart Center at Children’s Hospital Boston’s Facebook page. Our page offers families a secure place to interact with each other and get plenty of factual information on pediatric heart health. It currently connects over 2,000 families and is monitored by a pediatric cardiology specialist who can direct people with specific treatment questions to the proper channels.
If information on heart health and treatment is important to you, or you are looking to connect with other families who have been touched by a pediatric heart condition, please join our page and help us grow the conversation online.

Fontan Talk….

So.  The echo looked good from what you can see on an echo…ventricular function looked good, his ‘sutureless repair’ (for his pulmonary vein stenosis) was wide open with no obvious narrowing, and his Glenn was working well.  Things that we don’t know right now are the severity of his collateral growth and what his pressures are.  Pressures is the dreaded P word for us heart families.  Everything is always dependant on pressures.  Pressures too high…pressures too low.  All of our children’s surgeries require certain parts of their heart to have pressures within a range.  Lung pressures, heart pressures, blood pressures…..and its the one thing that we don’t know unless a cardiac cath is done, which you don’t want to do unless you have to. 

So in discussing “The Fontan” it is always told me that all of this is dependant on what his pressures are, when they do a cath, 1-2 days before surgery.  It’s really honestly a cruel and unusual situation to be in because we can never count on anything.  Most heart Mom’s that I talk with have a lot of anxiety, nervousness, depression, and much of the time post traumatic stress.  But how can you blame us?  The doctors tell you that in order for your son/daughter  TO LIVE he/she needs _____ surgery, BUT we don’t know if we will be able to perform it when the time comes because the pressures may be too high.  Seriously, think about that.  That is what we live with day in and day out.  That is what we think about when we tuck our children into bed and kiss their head.  Not that I hope this next surgery is sucessful….OH NO, that would be too easy. 

We are thinking, I hope they are able to attempt surgery.   

It’s awful to live this way and I don’t think anyone will ever fully get what its like until you are in those shoes. 

Even though Logan’s cardiologist knows me very well (ie how much time our appointments take because of my laundry list of questions) I don’t think even he was prepared for how many questions I had regarding the fontan. 

The biggest questions that I have surrounding the fontan are…

1. Do we really have to do it?  (and I don’t say this cavileir, I have done my homework )

2. Timing

I watched this video about the life of an adult fontan patient and it scared the %$#* out of me…..

Warning to all heart families this is not easy information to hear, but knowledge is power and education is everything when it comes to our kids.  I want to know everything, and I do NOT like surprises.

The Adult Fontan Patient from ACHA on Vimeo.

This video is long but the points that I took away from this video are what follows…

1. The Fontan is no joke.  The idea that our children are going to have 1,2,3 surgeries and then be fine is just not true. 

2. They are finding that adults with Fontans are wearing out quicker than they anticipated.  Some in their 20’s, some in their 30’s, and if you are very very very lucky your 40’s. 

3. As of RIGHT NOW, statistically the odds of our adult fontan children receiving a heart transplant once their fontan starts to fail is (and I quote from this video) Slim To None.

A friend of mine and fellow heterotaxy Mom asks a question in this video to which the response was…”enjoy the good years.”

I am having a very hard time accepting this. 

 My Son is going to have more than 20-30 “good years”,  I am going to question everything, and I am going to fight so damn hard to try to give him more than 20-30 “good years.”

I have done a lot of reading, research, question asking  and I will let you know what I find out but I am really starting to wonder about the fontan.  The biggest reason being is that typically the reason for Fontan failure is not the heart.  It is the (here we go again) the pressure it puts on your liver and other organs.  There are so many complications of the fontan it is just scary.  AND of course, heterotaxy kids are more prone to all of them.  My biggest fear is doing anything to Logan that will damage his other organs.  One damaged organ is enough for my son…thank you. 

There are so many breakthroughs coming for our kids.  Stem cell hearts, total artificial hearts, ventricular pump devices and I want to make sure that Logan will be in a place to utilize them when they are here.  This is not science fiction.  Currently there are 13 adults in the world right now walking around with total artificial hearts.  There are ventricular pump devices being used right now.  They are growing organs with stem cells.  These things will one day be here  but if Logan has ruined lungs, a ruined liver, or other major organ problems he won’t be eligible for them. 

It’s a lot to think about, a lot to take in, and a lot of worry.  His surgeon thinks its important to do the Fontan between 18-20 months old.  There is a controversy over the timing of the Fontan.  Too early, too late, when is the best time.  And we are talking about a surgery that 1 in 10 die from, so there is a lot to think about….just another day in the life of a heart Mom. 

Logan decided that he was going to eat a cookie while waiting for his cardiologist to come in the room.  Amazing! Another cookie!  This is fantastic…any food he eats is going to get him bigger and stronger for our next surgery. 

http://vimeo.com/moogaloop.swf?clip_id=32562009&server=vimeo.com&show_title=0&show_byline=0&show_portrait=0&color=00adef&fullscreen=1&autoplay=0&loop=0

Logan deciding to kick the TV instead of watch it during his echo.

\

At home is trying so hard to figure out his baby walker.  On the lowest setting his feet barely touch the floor (he is only 29.5 inches long) but he manages to sort of push the walker in a circle with one foot.  Once he gets used to this though I think he will really enjoy being able to move around.  I mean he is 1.5 years old.  How frustrating it must be to not be able to get around yet.  I can’t wait to see him scooting around in this walker confidently! 

I hope everyone has a pleasant holiday.  Happy Thanksgiving.  Maybe Logan will decide to try some turkey this year???

The Heterotaxy Network

First, I am sorry for my lack of updating this blog lately.  I have been focusing much of my attention on getting our new Heterotaxy Network site up and running.  This is incredibly important to me.  This syndrome is so rare that in order to really understand what is working for them and what isn’t we need a website to be able to share information with each other.  We have run into some hiccups…( 3 web designers in row committed to the job and then backed out) but we still have a developer and a fabulous user experience expert (thank you Maria!) and we are determined to get this site up.  The site is going to include a memorial page for our Heterotaxy friends that have passed away, as well as inspiring stories of hope.  We are going to get our own forum up so that we can talk and ask each other questions, and have a collective (and current) source for all Heterotaxy related research and publications. 

When I was given the diagnosis of Right Atrial Isomerism/Heterotaxy Syndrome at my 20 week scan, I immediately went home to do as much research as I could about this defect.  I know enough about the medical community to know that not all doctors, surgeons, and hospitals are created equal and that I was going to find the best team I could for Logan.  There is so much that I can’t control in this world but I knew I could take some of the control back by finding the best team I could. 

When I first googled Heterotaxy Syndrome I was stunned. There was NOTHING.  There was obscure research articles and publications using abbreviations that I didn’t understand.  There was no statistics, no answers, almost no information at all.   So I did what any stressed out, neurotic woman would do…..I went to www.amazon.com and searched for books about pediatric heart surgery, pediatric heart defects, congenital heart defects, open heart surgery, and many more.  I ordered a stack of books….and I read….and read. 

FOR MONTHS.  I studied all things heart related.  And then I read this book….

Walk on Water: The Miracle of Saving Children’s Lives

 

http://www.amazon.com/Walk-Water-Miracle-Saving-Childrens/dp/0142004111/ref=sr_1_2?ie=UTF8&qid=1320894829&sr=8-2

If you do one small thing that will greatly improve the outcome of your child’s care it is this….

READ THIS BOOK. 

 I know that all of this is scary and I know its easy to bury your head in the sand, but it turns out….we have every reason in the world to be terrified, scared, and to question our doctors.  This is a very hard book to read.  It is so real, it is exactly what we go thru…the only difference here is that you get a glimpse of the other side.  What the doctors think…what they are not telling us.  

And what they are not telling us is frightening. 

We must educate ourselves so we can advocate for our children.  I the last few months I witnessed heroic heart repairs from surgeons and heart centers that fight till the very end for our kids. And then I have seen the exact opposite.  Heart centers that just give up.  They don’t try….they say it’s not worth it, it will be too hard on your family, it will be too much for your baby to go thru……

 Logan has the worst heart defect you can have and has had all the even worse ‘Risk Factors For Death” as stated in all the publications….and he is alive and he is happy.  Was this luck? NO Was it Fate? NO  It was months and months and months of obsessive reading, studying, and analyzing what would be the very best care for Logan.  I sought opinions from multiple hospitals, surgeons, and pediatric cardiologists.  Everything in the literature said that RAI/Heterotaxy with Severe AV valve regurgitation was a death sentence.  So I took him to the best pediatric heart valve surgeon in the country (Dr. Del Nido – Boston).  Logan now has NO regurg in his valve.  He also has small pulmonary arteries (the tube that brings oxygen to the lungs) and acquired Pulmonary Vein Stenosis ( all “Risk Factors For Death” in RAI/Heteortaxy). 

There are experts out there for various defects.  Like Dr. Del Nido being the foremost expert on pediatric heart valves, and Dr. Frank Hanley (Stanford) being the world expert on correcting MAPCAs (when you don’t have one tube taking oxygen to your lungs but a bunch of very tiny ones)  but how do you find this information?  What do you do when you get the diagnosis of Right Atrial Isomerism & Heterotaxy Syndrome and google it and there is nothing there???

This is why The Heterotaxy Network is so important.  Not just for families here in the US but for families from all over the world.  There is hope.  And by bringing us together and sharing stories, and resources, we can help each other, we can help the doctors.  There is so little they even know about heterotaxy.  I can’t tell you how many times a family has shared that their pediatric cardiologist had to GOOGLE heterotaxy before having a family conference.  And what good is googling heterotaxy when there is nothing there? 

But none of that is even slightly as upsetting as the discrepancies between pediatric heart centers.  In a world of sadness, loss, grief, and tremendous responsibility that we hand over to our trusted doctors, it turns out that many times our precious child is not the priority. In many cases politics, ego, money, resume building, paper writing, conference speaking, and administration pleasing are all the priorities that come before our children. 

We need to be their voice. 

Many, many, many pediatric cardiologists have come out of the woodwork to agree with what I am about to tell you right now.  There are less than a handful of surgeons that they would let come near their own child if they had a diagnosis as complex as Heterotaxy Syndrome. 

Can they tell you that? NO

Will they lie to your face? YES

When you ask them…”what would you do if it were your child?”

9 times out of 10 they are not being completely honest.

But it It is not all about the surgeon anyway.  Was it extremely important to find Dr. Del Nido to fix Logan’s AV valve? YES But equally important was the skill set of the nursing and CICU team that cared for him afterwards.  Heterotaxy is incredibly rare and unless you have a team of nurses and doctors that are versed in all things heterotaxy your child will likely get into big trouble in a variety of areas….(sepsis, vent dependence, feeding issues, low nitric production, just to name a few…) Heterotaxy kids are so much more complex than just a heart defect, you need to find a center that has a good pulmonology, gastrointestinal, CICU nurses, infectious disease, and a hospital that has made a (real) concerted effort to reduce their infection rates (infection is the second leading cause of death for our kids….)

My goals for The Heteortaxy Network are very simple.

1. Connect Families all over the world with this illness

2. To provide a comprehensive resource of all things related to Heterotaxy for families as well as clinicians.

3. To help facilitate a change in the outcomes for our children.

Please stay tuned for more information about The Heterotaxy Network, how you join, how you can help, and how you can connect with other families in your country.

Exciting News….

This has been in the works for a while and it is now getting close to being active. 

The primary goal of this website is going to be to connect families all over the globe that have been affected by this illness.  I believe that together we can become more knowledgable about the best treatment and care for our children.  My hope is that we can come together as a community to support each other, education each other, and share research.  There are still some details to work out but the website will be live shortly.  If there is anyone that would like to help or has any ideas or suggestions for things they would like to see on this website please leave a comment and let me know. 

The website will have a forum where we can all ask and answer questions, which is the most immediate need to most families right.  I have more ideas that I would like to have happen on this site but will need more time to work on them.  I have decided to get the website live as soon as possible to that we can start sharing information immediately, and the site will get more sophisticated as time goes on.  Please stay tuned for more information.

Heterotaxy Gene Found & Its linked to PCD.

Primary Ciliary Dyskinesia (A Primer)

 For those of you that don’t know what PCD is (which I am assuming is 99% of you,  because it’s a rare disease only recently understood) the PCD Foundation has a good explanation here

PCD is a disorder of the cilia (see above picture) and how this relates to Heterotaxy is very interesting.

Again this taken from the PCD Foundation Website. 

‘… it is believed that the movement of the cilia is responsible for organ placement in the developing embryo. Approximately half the PCD population has a condition called Situs inversus totalis where the abdominal organs, including the heart, liver, spleen, and intestines, are on the opposite side of the abdominal cavity. This subset of patients is said to have Kartagener syndrome (KS). The organs may function normally in their mirror-image position, but serious heart, liver, and spleen defects have also been reported.’

 

 

Scientists find gene linked to congenital heart defect

http://www.princeton.edu/main/news/archive/S29/12/38A02/index.xml?section=topstories

Posted December 5, 2010; 01:00 p.m.

 by Kitta MacPherson

A gene that can cause congenital heart defects has been identified by a team of scientists, including a group from Princeton University. The discovery could lead to new treatments for those affected by the conditions brought on by the birth defect. 

Princeton researchers focused on identifying and studying the gene in zebrafish embryos, and the team’s work expanded to include collaborations with other groups studying the genetics of mice and people. 

“This work really showcases the use of collaborative science and multiple model systems to better understand human disease,” said Rebecca Burdine, an assistant professor of molecular biology at Princeton who led her team.

The newly discovered gene, called CCDC40 (for “coiled coil domain containing protein 40”), controls right-to-left patterning as tissues develop, a critical factor in the configuration and effectiveness of organs. Scientists found the gene by zeroing in on zebrafish and mice in which the placement, and sometimes the internal structure, of organs is disrupted or reversed. While these so-called “left-right patterning” defects occur very rarely in zebrafish and mice, they occur at high frequency in the animals with mutated CCDC40 genes. Their study will be published online in Nature Genetics on Dec. 5. A separate paper by another group identifying a sister gene, CCDC39, based on studies of genes in sheepdogs, appears in the same edition of the science journal.  

Burdine designLoss of the gene that produces the protein CCDC40 in zebrafish (identified here as the locke mutant) or mice (links mutant) leads to defects in the asymmetric placement of organs in the body. The organ placement of normal zebrafish and mice are seen in the upper left and right panels. In zebrafish embryos, the heart (dark region in upper left panel) is labeled showing the atrium (A) and the ventricle (V). Similarly, the view in the upper right shows the heart (RV, right ventricle) and other organs, stomach (S) and right and left lungs (RL and LL) in the proper places. The bottom left and right panels illustrate asymmetric placement of organs in zebrafish and mice embryos caused by the mutant gene. (Image courtesy of Rebecca Burdine and Irene Zohn)

“We used the strengths of different model organisms to gain an understanding of how a novel protein, produced by this new gene, functions,” said Irene Zohn, who led a research group studying mice genetics at the Children’s National Medical Center in Washington, D.C., and is one of the first authors on the CCDC40 study with Burdine’s group. A third group, led by physician Heymut Omran and based at University Hospital in Freiburg, Germany, rounded out the team, with other individual participants located elsewhere. “These findings would not have been possible without the collaborations between the three groups,” Zohn added.

The collaboration started several years ago when Zohn contacted Burdine, a renowned expert in the study of left-right patterning in animals. Developmental biologists such as Burdine investigate what factors contribute to patterns in vertebrates relating to symmetry and leading to where organs are placed in the spatial configuration of the body. In humans and many animals, for example, the heart is usually situated on the left side with the liver at its lower right. Flaws in left-right patterning can lead to congenital heart defects in humans.

It is estimated that one in 10,000 people have a condition known as situs inversus, when the left-to-right patterning in the body is switched. In most cases, there are no adverse consequences of this condition, but problems arise when perturbations in the patterning signals produce reversals within organs, including heart structures such as the aorta and pulmonary artery. In rare circumstances, the heart can be located on one side without any supporting structures around it such as arteries and veins. That condition can be fatal.

Burdine and assistants
 
A gene that can cause congenital heart defects has been identified by a team of scientists, including a group from Princeton University. Authors on the paper included, from left, Rebecca Burdine, a Princeton molecular biology professor, and graduate students Jason McSheene and Kari Baker Lenhart. The team made the discovery by studying the embryos of zebrafish.

Zohn and her research team had found a gene in mice that, when mutated, appeared to lead to disruptions in left-right patterning causing heart defects. She asked Burdine if she could locate a similar gene in zebrafish. When Burdine studied the mouse gene found by Zohn’s team and its location in the spool of genetic matter known as the genome, Burdine realized that her team knew of a gene mutation in zebrafish that was in the same general area of the zebrafish genome. Upon further study, however, Burdine and her team found that the mouse and zebrafish genes were not only in the same general area of their relative genomes — they were the same gene. 

At that point, the teams tracked where the genes were expressed in mice and fish to better understand their function. The groups found that the genes were specifically turned on in cells that produce motile cilia, important hair-like fibers that project from the surface of cells. 

Burdine reasoned that zebrafish embryos with the mutated version of the gene also should possess some sort of defect in the cilia themselves. However, views of the cilia in zebrafish embryos through normal lab microscopes showed nothing beyond the ordinary.

For a closer look, Burdine employed a special transmission electron microscope. She examined the microscopic cilia in the zebrafish with the mutation in CCDC40 and compared those images with zebrafish with the normal gene. The cilia in the zebrafish with the mutations “were disrupted in their structure in a way I had never seen before,” Burdine said.

She sent the images to Omran, who was treating people with a disorder known as primary ciliary dyskinesia or PCD. These patients suffer from a defect in the action of the cilia lining the respiratory tract. Normally, cilia beat rhythmically, moving mucus toward the throat. If cilia are impaired, however, they cannot reduce or remove mucus from the lungs, leaving people with the disorder susceptible to chronic recurrent respiratory infections, including bronchitis and pneumonia. Since motile cilia also are required for proper left-right patterning, these patients also often have defects in organ positioning.

Of the 26 patients with similar cilia structural defects tested by Omran, some 17 were found to have mutated versions of the gene CCDC40. In addition to the respiratory ciliary disorder, the patients also suffered from congenital heart defects. This finding provided evidence of a link between the cilia-induced respiratory disorder and the heart problems. 

By knowing the gene and the properties conferred by its mutated version, scientists may be able to better treat those with the mutant gene and its accompanying respiratory disorders. Researchers eventually may be able to devise genetic repairs to impaired cilia, Burdine said.  Because some congenital heart defects can be surgically repaired, it will be important for those individuals to understand whether or not they may be at risk for passing their defect on to their own children. In the future, it may be possible to screen for mutations in CCDC40 to help determine the risk of congenital heart defects.