Tuesday, October 23, 2012

Hitting the Odds (again): The Factor Five Leiden Gene

Our lives have been so busy that unfortunately this blog gets neglected from time to time. For this I apologize  I went back to work a few months ago, working Wed-Fri. This means I have to fit all of Jake's appointments into 2 days. He has 3 therapy appointments a week and I have also had a bunch of follow up appointments to schedule for him. In addition to all of that I have agreed to teach Aidan's kindergarten class art once a week. Their school doesn't have an art program and I am really excited to teach the kids. It also gives me something special to do just for Aidan since so much of my time is taken by Jacob's appointments.  So as you can see there has not been much time for blogging or anything else lol.


When we left off I was talking about our trip to Cincinnati. Well we have actually been there again since then but I will get to that in a minute. To finish the blog post I started TWO months ago, the second day Jake had a ultrasound of his clot (Which he screamed through) and then we had to meet with Hematology. The Hematologist said the clot has remained unchanged and has now become part of his body. I am not sure if I have explained this before so if I have please forgive me. When you have  clot for a long period of time the body sees this as a foreign object and starts trying to figure out how to "Fix" the problem. It then creates small veins called collaterals around the clot. So if Jacob's Jugular vein is the super highway then these collaterals would be the back roads. They re-route the blood around the clot.  It is pretty amazing how our body works. Jacobs clot has hardened and become a part of him, the collaterals are a way for his body to continue moving blood through that area. I was concerned if the clot can go anywhere especially since it is in his neck, right between the heart and brain. The Hematologist assured me that it is not going anywhere. It has pretty much fossilized if that makes sense and his body has grown around it.

Before they could take Jacob off of the Lovenox treatments they needed to check for inherited clotting disorders to make sure he is not at risk for clotting. They tried to get blood that day but after 2 hours of holding Jake down as they tried over and over and watching him scream and thrash like I had never seen before, I told them NO MORE. They said they could get an ultrasound machine down to find a vein but I knew my son and he had been through to much and I was not about to let him be poked on anymore that day. I told them I wanted them to check with CHOP and make sure they had not already run the test and also speak to his cardiologist at CHOP to make sure she was even ok with him going off of the shots. The hematologist agreed that it was a good plan and we would come back in a month for blood work if his cardiologist agreed.

Fast forward 3 weeks which also happened to be 3 weeks ago (told you I am behind on updating). Jacob's cardiologist agreed that if his tests came out OK then he could stop taking lovenox. They could not do the blood work here in WV because they needed so much blood that they wanted it done there. So we I decided to drive to Cincinnati and back in one day so Jake could get the blood work done.  This time they had IV team come up with an ultrasound machine. Even with ultrasound guidance it took over an hour and IV team couldn't get him to bleed enough for the test so they had to call a PICC Line nurse up to stick him. She was awesome and they got all of the blood they needed to run their tests.

Fast forward again to today.  The good news is that Jacob is able to stop the Lovenox injections. YAY! Two shots a day was so hard on the poor kiddo and his little arms and legs were constantly bruised from being injected with blood thinners.  Now for the complicated part. Most of the tests came back normal including a test which looked for micro-clots in his blood. One however did not come back as good as we would have liked.

Jacob has 1 Factor Five Leiden gene. You can have either 0, 1 or 2 of the genes. 0 is normal and means your body is producing plenty Protein C, a natural anticoagulant. If you have one or two of the genes then something is not working exactly right so your body is not producing enough protein C to keep your blood thin. Having 2 genes would mean Jake was very high risk for clotting so the good news is that he doesn't have 2.

Having one gene means he won't spontaneously clot however he is high risk if he is immobile for a long period of time or if he has a line (central, PICC etc.)  Only 2% of Caucasians have this gene so Jacob hit the odds again.
Jacob's Crazy Odds
  • 1 in 100 babies are born with a Congenital Heart Defect (1%) 
  • 4 in 10,000 babies are born with HLHS 
  • Only 10% of those babies have an Intact Septum
  • I have never found another Hypoplast with Bilateral Vocal Cord Paralysis but I do know that of the kids that had an airway like Jacob had (Pre-airway surgery) only 5% of those kids could breathe without a trache. BRAG: My little man didn't need a trache or Oxygen. 
  • 2% of caucasions have the Factor Five Leiden gene
I still don't know why we can't hit these kind of odds with the lottery lol. Oh well we have our million dollar baby and the most amazing 5 year old EVER so we are rich where it counts :) 
This gene is passed down from a parent so either Andy or I also have this. Most "healthy" people with this gene go through their entire life without getting a clot so it is never a problem.  The only time it becomes a problem is if you are sick and need to be in bed for a very long period of time or have lines which can increase your chance of clotting. When Jacob had the clot he had been stuck in bed for 10 days on the ventilator. He also had a central line. Throw in the infiltration which added more pressure to the vein and it is not surprising that a clot formed. It is good that we know about this gene though because now we know that Jake has to be put on a heavier anticoagulant anytime he has a surgery or may be stuck in a hospital bed for a long period of time. They know about it now so it can prevent future clots. His cardiologist at CHOP and the hematologist in Cincinnati both agree that there is no reason for him to be on daily injections. 1 gene won't be enough of a risk to cause spontaneous clotting so he is not at risk on a daily basis.

As for the rest of us, they did not see a need for us to be tested. Andy or I have the gene however we are healthy and like I said before many people go their whole lifetime without a clot. I was concerned about Aidan and if I should have him tested but again they said there is no need. They said that the only time they feel it would be necessary to test him or us would be if we had a major procedure which required us to be immobile for a long period of time. Even then there is a chance we would not clot. Again I feel better knowing because if anything happens to any of us I would know to mention it so they could test and be proactive.

This was not the news I was expecting but it could have been worse. We are excited to be able to stop his shots. This will make him down to only two medications, his enalapril for blood pressure and a half a baby aspirin a day (Which we will start back up now that he will be off of the Lovenox shots).

Jacob continues to learn more words. He can now count to ten and can recognize numbers and some letters when he sees them. He also has learned his colors. He is making progress and he is showing us more and more that he knows these things and it is just a matter of getting the brain to be able to communicate it verbally. We have increased his speech therapy to help aggressively treat his apraxia. He is still getting speech once a week and developmental therapy once a week from Birth to three at our home.We are now also going to Cabell Huntington Hospital once a week to do outpatient speech therapy. So far it is going very well and Jake enjoys it.

We have a whole bunch of appointments coming up for Jake in December at Cincinnati Children's. So far here is what we are looking at.

December 5th
  • Hearing Screen
  • Vision Screen
December 6th

  • Swallow Study (Speech)
  • Speech Evaluation (Discuss thin liquids and getting gtube out)
  • Speech (Apraxia specialist)get
  • Hematology (Follow-up)

I am also trying to get his 6 month follow up broncoscopy scheduled to check his airway and also see if we can get his gtube taken out while up there.

It will be a busy week!!!

Happy Halloween
from my little super heroes!
Iron Man and Clark Kent: AKA Aidan and Jacob!

Stay tuned for my next blog post: 


( I promise I will post this soon, I need to vent lol)


1 comment:

  1. My name is amber and I have a daughter named Evelyn who is 17 months and has HLHS. She is doing great. We live in cincinnati. And go to Cincinnati children's. I just found your blog and have been reading it. Evie is about 25.5 lb.if you would ever like to talk I would be open. Email is ambersmorgan3@gmail.com