Merry Christmas!

 

The festivities were a little much for Logan.  He got very overwhelmed with all the people and noise and thus, he slept thru most of Christmas. 

He did make a brief appearance at the dinner table though.

He is still only comfortable with Mom or Dad holding him.  He may let someone else hold him for a few minutes but then it is back to Mom and Dad. 

 We had one little scare towards the ends of the evening.  Logan began a blood curddling scream and turned very blue.  I have not heard this type of scream from him before.  I thought in my gut that we were going to the ER.  Scott got him calmed down in the basement away from everyone, it took awhile to do this. We think he just got very overwhelmed with the lots of people because the crying started when some people were huddling over him and we think he just got scared.   I have to say though, that the last time there were this many people and this much noise he was in the ICU, poor baby. 

But Logan was a very good boy this year and Santa was very generous to him.  He got more presents than anyone.  A couple new soft blankets to snuggle in, a dancing Mickey Mouse, Baby Ugg boots, some toys, and then some more toys, a play kitchen to share with his big brother Ethan, lots of clothes, and some soft baby books. 

Thank you everyone for all your support this year.  It has been one rollercoaster and I couldn’t have done it without all of you.  Merry Christmas and to all, and a special wish to all the Heart families out there,  A Healthy and Happy New Year. 

 Maybe just maybe in this new year it will become more widely known that congenital heart disease is the #1 CAUSE OF INFANT DEATH in the United States.  The more we know the more that we can do.  Please visit 1in100.org  for more information. 

…and to all the children, GOODNIGHT.

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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.

AV Valve Repair update.

For about the last 3 weeks Logan has been fighting an upper respiratory illness.

 

He has been battling it pretty much since we got home.  It has been disappointing to see him not feeling that well after his Bi Directional Glenn.  We were expecting to see a healthy new baby after this last surgery and instead we have a sick little Logan.  I am pretty sure he picked it up at the cardiologist’s office a couple of weeks ago.  At that appointment (the one a couple of weeks ago) Dr. Patel (whom I have a whole new appreciation for, after coming from Boston – see previous post entitled Dr. Patel saves the day!)  did an echo and said the repair looks excellent.  That is a relief, looks like the valve repair is holding up. 

Now 3 weeks of an upper respiratory infection later we went back to Dr. Patel’s office this past Mon. and he still gave us a good report.  His oxygen levels were a little low (in the low 70s) but this is most likely due to him still getting over his respiratory infection. But other than that Logan is doing good.  I have to admit that we are pretty exhausted.  Logan is waking up every 1-2 hours every night from either being hungry or congested. 

Now that Logan is 6 months old it is time he starts eating real food.  And it is clear that breast milk is not filling him up anymore.  However, this has been a struggle.  He definitely has some oral aversions from all the medications that are shoved at him all day.  He wants nothing put in his mouth and has an immediate negative reaction to anything coming towards it. So right now the process of getting him to eat food is going really slow.  We are mixing cereal into his milk and putting that into a bottle which he it tolerating, but that isn’t getting him over his oral aversions.  I had a little luck with a tiny amount of sweet potato on a spoon and let him just suck on that. 

Speaking of which his medication schedule is hell.  It is so much, I do not blame him at all for not wanting anything near his mouth.  He takes 6 medications.  Two of which have to be given every 8 hours, 2 of them twice a day, and 2 of them once day.  We try to stagger them because giving them all at once is too much on his small tummy.  So he gets a yummy medicine bottle at 12 PM, 8 AM, antibiotic (for asplenia) at lunch, more meds at 4 pm, more antibiotic before bed, and another round starts again at 12pm.  Poor Baby.   

The goal right now is to try to keep him healthy thru this winter and upcoming holidays.  It is no small feat right now as everyone has been sick with either the stomach flu or some other illness.  It is very cold here and we have been battling blizzards for weeks, so  I am trying to make the case that for the sake of Logan’s health I need to go live in Hawaii with my Aunt for the rest of the winter 🙂

As you can see, I am not exaggerating the extent of this cold bitter winter we are having here in Ohio. 

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.

Happy Thanksgiving!

Without getting too emotional and sappy, I have to say that we had a lot to be thankful for this year.  It was a very emotional time for our family and I think it is only fitting that Logan sit at the head of the table. 

And with this last post I think I am caught up on my blog.  From now on it should be current.

Goodbye, hospital.

 
 
 
 
 
 
 
 
Sorry for the delay in posting here. It has been a crazy last week. After a few days home I flew back to Boston and within a few hours of being there I started to feel the beginnings of the stomach flu, so I wasn’t able to actually go back to the hospital to see Logan. I stayed at the hotel for a few days until I felt well enough to catch a plane back home to be with my other son Ethan (who also had the stomach flu). I was home for 2 days when Scott called me and said he was at the hotel and feeling like he was coming down with the stomach flu. I couldn’t believe it. He called me 11pm to tell me this and so I then had to get the first flight back to Boston (6AM) so that Logan wouldn’t be alone in the hospital. I was a crazy and awfully sick week for the whole family. I arrived in Boston at 11:30 AM and walked out of the hospital with Logan at 2:30 pm last Friday. Scott and I took different cabs to the airport and sat far apart from each other on the plane. We tried very hard to keep his germs away from Logan. Now that we are thinking about though, about 5 days ago in the hospital Logan was throwing up and acting very irritable and Dr.’s thought that it was withdrawl from the Methadone. Scott and I are now wondering if he had the stomach flu. If he already had it when he was in the hospital that would be the best. Since he has been home he hasn’t shown any symptoms of it, and Scott is already better too.
Logan is so happy to be home. He can’t stop smiling and giggling. He was also extremely happy to be reunited with his Fischer Price swing. I feel like his life is finally starting. It’s almost like we are starting over at the newborn period. He is almost 6 months old but he only weighs 10 pounds and he isn’t even able to hold his head up yet, so he is pretty much starting from scratch. It will be very interesting to see how fast he catches up physically. Cognitively he is a 6 mo. old. He is very aware of everything, likes certain people, really dislikes others, will watch a Baby Einstein video, plays with his hands and feet, grasps toys and puts them in his mouth. He is also struggling a little bit with cooing and making noises that he used to make. I was told that this is a common problem for babies who had to be intubated (the breathing tube). He is still is fairly sleepy, but overall is definitely awake now more than pre-surgery. I think it will take a couple of weeks of recouping before we really find out who he is.
I just want to thank everyone again for all the support and encouragement that was sent our way during the last month. I can’t tell you how much every positive comment helped us get thru this awful experience. THANK YOU!!!!

Another Cath…

Sorry I haven’t posted here in a few days. I have been so tired and overwhelmed with everything going on. Logan’s O2 stats continued to be lower than they wanted them to be after the Bi-Directional Glenn shunt. Also, now that they know there was significant blood flow backed up in his upper half of his body they were worried that a collateral (small vein) had widened to allow blood to flow back down. They got in there and there was indeed a very large collateral that was draining blood flow back down and away from his heart. They coiled that collateral off.
I am still frustrated and angry because I know that this whole situation was a domino effect set off by one doctor who overreacted to some low saturations once we were sent to the floor. This sent Logan back to the ICU where he was constantly pricked and poked, and not fed, messed with, which made him so angry and creates high resistance and not good blood flow, which then makes the doctors want to do more interventions. 
 
Its absolute craziness.
 
It is the most tiring and frustrating thing to watch.  And none of the doctors listened to us about when he was in pain or uncomfortable. 
I really hope no one ever has to watch their baby being treated this way.
It is excruciatingly painful. 
I TRULY believe that we are now on the right track. At this point their really isn’t anything else they could to him.  They are comfortable with his o2 levels now, and they are taking the arterial line out today, and his NG tube. I truly believe that Logan will be home in the next week. Thank you everyone for all your support and encouragement I don’t think I could have gotten thru this without it.
 
Hugs to everyone.