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)


Thursday, September 6, 2012

Cincinnati Appointments: Part 1

Yesterday Jake and I traveled to Cincinnati Children's Hospital Medical Center. We had a ton of appointments and it was a very long exhausting two days. I have decided to break this into two blog posts because there is so much to cover.

We dropped Aidan off at school Tuesday morning around 7:30am then hit the road. 3 and a half hours later we were at the Children's Hospital but we had no idea just how long of a day we were in for. We went right up to Cardiology for Jacob's heart echo. He was not a happy camper and the ultrasound tech, child life specialist and myself worked tirelessly to get him to stay still so they could get what they needed. About an hour later they got all of the pictures (As good as they were going to get without sedation). We went straight to another room for the Neurodevelopmental clinic. We were going to participate in the clinic they offer at CHOP but found out that a cardiologist from CHOP recently went to Cincinnati Children's and started a clinic there. Since it is much closer to home I decided to bring Jacob there.

The Neurodevelopmental clinic is one of only a few programs in the country which provides individualized care to offer children with complex heart problems early intervention. Research shows that children with complex heart conditions are at greater risk for developmental delays. Jake is significantly delayed in speech so I want to be able to give him as many resources that I can to help him. Jacob saw a team of specialists that included a Cardiologist, a Cardiovascular Geneticist, a Developmental-Behavioral Pediatrician, A Pediatric Neurologist, an Occupational Therapist, a Nutrition, Social workers, and a Child Life Specialist. Each specialist came in one at a time, back to back and spent quite a bit of time going over his history, how he is developing and what we can do to help him. Then they all met as a team and went over their findings and came up with a plan to help him reach his full potential.

NeuroDevelopmental Cardiologist:Dr. Marino was the cardiologist who brought the program to Cincinnati and I really enjoyed meeting with him. He explained that kids with HLHS are considered very high risk for developmental delays compared to children without a congenital heart defect. That being said as far as HLHS kids go Jacob is actually at the low risk range because he has never had a stroke, seizure, been on ECMO or had other major issues which may put him in the high risk category. He told me that Jacob's echo looked great! This was music to my ears because I have been concerned lately that he has been more "Blue" and had lower sats. He said his heart function was great and everything looked beautiful. YAY!

Cardiovascular Geneticist:The geneticist went over our family history. We talked a lot about how two of my first cousins have children with heart defects and my uncle has a heart issue. The specific defects that my second cousins have do not seem to be related to Jake having HLHS. She does want Andy and Aidan to have cardiac echo's because they have found that there is a strong genetic link to Bicuspid aortic valve issues. This issues wouldn't show up until we are around 50 years old however it can cause serious complications then so we need to make sure we are not at risk. I have already had a heart echo and there was no issues with the Bicuspid Valve. I have been wanting to have Aidan have a heart echo anyway just to be safe and she was very persuasive that we need to have this done because of the strong link. So I am going to talk to Jacobs local cardiologist and see when we can get Aidan checked out.

Developmental-Behavioral Pediatrician:
We spent a lot of time with the developmental therapist discussing Jacob's speech issues. I talked to her about my concerns with him speaking in "Tones" and asked her if she thought it could be speech Apraxia. Apraxia of speech is a motor speech disorder. Children with this speech disorder have problems saying sounds, syllables and words. It is not because of muscle weakness or paralysis. The brain has problems planning to move the body parts (e.g., lips, jaw, tongue) needed for speech. The child knows what they want to say but their brain has difficulty coordinating the muscle movements necessary to say those words. Jake meets many of the criteria such as not babbling as an infant, not speaking until late, words made up of mostly vowel sounds, problems combining the sounds and having long pauses between them along with simplifying the words.

Jake talks in tones. Instead of the word "Thank you" he says "ahhh ooooou". "Outside" is "aaaa iiiide". He kind of has his own language which I have gotten used to and can understand. He has made so much progress since his airway surgery. Prior to his surgery his signing was more like babbling with signs. He didn't attempt any words. Because of his speech delays he is more like a 18 month old right now instead of a 2 and a half year old. This is based on how many words he can say. That being said there are so many factors involved so it is hard to know if the delay is Apraxia ( I went over this more with Neurology), or if it is because for the first 2 years of life he had to focus on breathing and couldn't focus on talking. Plus he couldn't hear due to the breathing so the "Sounds" that we were making sounded different to him. He also was not able to eat by mouth. The fact is he has really had about 5 months of hearing and being able to try and talk. In that time he has gained 7 months as far as "words". So he is making progress and should be able to talk but he needs aggressive speech therapy.

I discussed therapy treatment with her and she is going to help me find local resources as well. She wants Jacob to have a repeat hearing screen to make sure that he can hear words correctly. His last hearing screen was prior to his airway surgery so we need to know what sounds are going in to make sure that the "Tonal" speaking is not just because that is the sound he hears. We are also going to meet with a speech pathologist who specializes in apraxia. They can evaluate him and help us find resources. I have been talking to his local speech therapist about initiating a picture exchange system. PECs is a system that is used to help non-verbal children communicate.  I will create boards with pictures of objects that Jacob eats, uses or wants on them. We will teach Jacob to use these boards by picking what he wants and bringing it to me when he wants it. I will then give him that item. This will give him a more universal way of communicating. Once he masters this then we can teach him to use the iPad apps to be able to communicate with us and tell us what he wants or needs. We will continue to teach him sign language however most people do not know sign language. People are moving toward this way of teaching especially for when he goes to school. Not all teachers know sign language, most do not. So if a child would use sign language they would need an interpreter. Ipads have opened up a whole world of possibilities for children with communication delays. There are now programs where the child can type a sentence using pictures, hit a button and it will speak the sentence. Now kids can communicate with others despite the communication barrier and not need an interpreter. So we are going to continue signing and add the Picture exchange system along with finding more resources for aggressive speech therapy to teach him to talk.

We also talked about getting a vision screen because Jake has been squinting a lot and going really close to the ipad and TV (I mean nose against screen close). So we need to make sure that is ok as well.

Pediatric Neurologist:
The Neurologist and I discussed Jake's speech issues a lot as well. He really wanted to have Jacob have the hearing test as well just to rule that out as a cause. He said it is really hard to pinpoint at this time because of everything Jake has been through. It is hard to say if he was born with the heart defect and the Apraxia or if the heart defect caused the apraxia or if it is because he has hearing issues etc. Basically like the developmental therapist he wants to start at the most basic level and get the hearing test. He also said it is good that CHOP is doing a MRI prior to his fontan surgery (3rd open heart). This will show us if he ever suffered a stroke that we were not aware of during his surgeries or recoveries. He said it is possible for this to happen and us not know about it unless a scan like the MRI is preformed. They don't want to do one to check because he will have one pre-Fontan and honestly if he did then the damage is done and the treatment plan is the same... aggressive speech therapy. He did say that he was not convinced Jake has Apraxia because his motor skills are so good. Usually if there is Apraxia of Speech the kids show developmental delays in other area's as well and Jake is age appropriate in those areas. He did not have any other concerns as far as Jacob's neuro development. He did say Jake had a little bit of a big head for his height lol but so does Aidan. My boys have short legs but big brains!

Occupational Therapist:
I really enjoyed this session. Jake got to play! I was really impressed because he sat down and did her puzzle with no problems. At home he tends to play with the pieces but he grabbed her shapes and put them right where they belonged. She would draw a line on a piece of paper and say zoom and Jake did the same line and made the same sounds. The only things he didn't do was string round circles onto a string and use scissors but we have never worked on those things at home so we think it is from lack of exposure. I didn't realize kids that young should be using scissors lol but it is good for their hand strength. So now we know what to work on but it was great to hear that his motor skills are great and age appropriate!

Jake has always loved to eat so the Nutritionist was very happy with his weight gain and height. She said to keep doing what we are doing! We did talk about his continued problem with thin liquids. We agreed he needs to have a repeat swallow study so we can come up with a long term plan. His airway is healed so at this point if he were going to be able to do liquids he should by now. So we need to come up with a long term plan. I am going to try and get him to use the thickener and drink thickened liquids but if he refuses then we need to figure something out. Right now he drinks his milk through a 60ml syringe because he can only get small amounts out and he doesn't choke on them. This is not ideal though especially when he goes to school.

Social Workers and Child Life:
The social workers and child life specialist just helped us entertain Jake and discuss traveling and resources available to help us.

Once we met with everyone the specialists met and discussed their evaluations and came up with a Global Plan for Jake.

Global Impression: The doctors findings
1. Speech delay, and we need to rule out apraxia
2. Jake is age appropriate in fine motor, visual motor and gross motor skills
3. Jake eats a wide variety of foods and is growing well. He still struggles with fluid intake and takes everything by syringe.
4. No concerning dysmorphic features (Genetics)

Global Plan: The plan they came up with for Jake1. Hearing Test
2. Speech/Language evaluation by speech pathologist specialized in apraxia
3. Initiation of PECS (Picture Exchange Communication System), with the goal of using an augmentative communication device.
4. No formal occupational therapy recommended at this time however recommend follow through with home program recommended by occupational therapist in clinic.
6. Repeat swallow study and follow up with speech/ot to work on getting off the syringe and onto a sippy cup. Work on increasing fluid intake. Recommend additional milk to daily regimen.
7. Obtain genetic testing records from CHOP, Father and Brother to get echocardiogram to rule out bicuspid aortic valve.
8. General follow-up in the Clinic in 1 year

We didn't get out of the hospital until 6pm Tuesday night, it was a very long but productive day. We will be going back to Cincinnati Children's for a swallow study, hearing test and to meet with the speech pathologists to discuss resources and treatment.

To learn more about the Neurodevelopment Clinic visit www.cincinnatichildrens.org/hi-ndc

I will write all about Wednesday's visits in Part Two which I hope to post tomorrow night. Stay tuned...


Thursday, August 2, 2012

Leaps and Bounds...

This blog post is dedicated the greatest man who ever walked this earth, my Papa.
George Cunningham lived 90 amazing years and I am so blessed to have had him in my life. He served our country, worked hard to provide for his family and was the best grandfather I could ever ask for. He never complained and always had the most contagious smile. The earth lost a great man but heaven gained the perfect angel. We will see each other again one day papa. Jacob now has the best guardian angel anyone could ask for. You will forever be in my heart.

I realize it has been over a month since my last blog post. My dad reminds me DAILY that I need to update the blog. I am sorry that I take so much time between posts but as you know "Life happens" and I don't get to jump on here as often as I would like. I do love that Jacob has so many fans and am so grateful that you care so much about our little guy. So lets get to it shall we!

Jacob's scab finally fell off of the back of his head. It looked pretty nasty at first (I will spare you the pictures) but thankfully it healed up very nicely and looks great now. He is still bald along the back of his head but I think it will all start to come back now that the area is healed.

We have been traveling so much the past few months. Philadelphia twice and 2 weeks ago we went to Massachusetts for my Grandfather's funeral. The boys did so well on the trip which is amazing because it was 16 hours in the car on the way there and 14 on the way back. It was so nice to see all of my aunts, uncles, cousins and most of all my nana. I missed everyone so much. It was very hard not having my papa there with us but I am so glad I was able to be there to see him one last time and say my final good-bye. The trip was really good for Jacob's speech therapy. The time in the car allowed us to have a captive audience with him to work on his signs. My sister was awesome and worked with him so much. Se used his baby signing time flashcards to teach him new words. The funny part is he memorized the order of the signs. He started telling us the opposite word whenever we asked him what a card meant. So now if we ask if he is hot, he responds with Cold. If we say Jake are you Dirty, he signs he is Clean. I was feeding him earlier today and told him it was hot. He looked at me and signed "Cold" lol. So it is kind of hard to teach him the meaning but it is still progress and something for us to work with. It was also great for him to be in a house full of people talking. It really encouraged him to jabber and try to talk. Overall he made great progress during the few days we were there.

Jacob is showing progress daily with his speech. It seems slow at times but when I look back to where he was prior to his airway surgery it is amazing that this is the same kid! He has been trying to say vowel sounds for a while now but a few weeks ago he started saying Choo-Choo. At first it was more like Wooo Wooo, then shoo-shoo but now he is making the "CH" sound which is not an easy sound to make. When he does it he puts his arm in the air and pulls down like he is ringing a bell. He does it every time he sees a train or if we say "Chugga-chugga". He is in the Thomas the Train stage big time. He would watch Thomas the train and Yo Gabba Gabba all day if I let him. He LOVES them. He grabs my hand brings me into his room then points at the TV and signs train. He won't fall asleep unless Thomas is on in the background. I have to sneak in once he falls asleep and turn it off. If I try to put him to bed without it he will scream and cry and yell Choo Choo until I put it on. He is so stubborn and strong willled, I have no idea where he gets that lol.

Jake has also started saying Hi (Hi-yee). I am always over pronouncing things to try and get him to say the words. It may have backfired a bit because instead of Hi, he says Hi-yee lol. It is really sweet. He waves to you as he says it. He still waves backwards like he is waving at himself. He gives you this big old grin. Too cute. He has said Bye a few times. Today he came into my room and signed "Yes" while saying "Yeah, Yeah, Yeah" and then he did the sign for "No" while saying "O, O, O". He was so proud of himself and I was jumping up and down I was so excited. He also FINALLY started saying "Mama" today. I have been trying to get him to say that again since his airway surgery.

He said the letters A, O, I and C. He also says yo, awe and tries to make up words all day long. He jabbers all day which is normally what infants do before they start talking. Jake never did that before because he never tried to talk when he had the labored breathing. He jabbered with signs then started signing appropriately. So now that he has had the airway surgery he is starting over verbally and is learning to speak. It is a very slow process but he is making progress and I am so proud of him. He is also learning more signs everyday and also learning to put multiple signs together. I think the more he learns the more excited he gets to try new words and signs.

Speaking for Jacob is much more difficult than it is for other children. Even though he had a complete airway reconstruction his vocal cords still are and always will be paralyzed. He can make sound but it is more breathy. It is hard for him to prounounce words. He can make shorter sounds easier than holding the sound out. It is much easier for him to mimic the tone of words rather than pronounce the word. He has started signing "Outside" and when he does he almost humms the word. It is really hard to put down in writing so I will have to get video of it. He basically will hear me say a word and then he will hum the syllables and sign. It is still huge progress for him, he is trying so hard to talk.

I have also noticed that it is easier for Jacob to say words if he makes a deep voice almost like a growl. Jacob was bit by a mosquito last weekend and his eye swelled up really bad. Aidan made a joke that he looked like a pirate and said Arg. After that Jacob would laugh and say Arg or Yo in the "Pirate voice". He started saying other words in that voice and I noticed it was easier for him to pronounce some letters when he would use the deep voice.That is actually how finally got him to say "Mama". I said it in the pirate voice and he repeated it. I am not sure if he can just get more sound or what it is but I am going to talk to his speech therapist about it. Not that I want Jake going around talking like a pirate or growling at people but it is a start lol.

Jacob's swollen eye from his mosquito bite.
Jake still gets very frustrated because he can't communicate as much as he would like. He gets angry if you don't understand what he is trying to tell you. It is getting easier because he is getting better at showing me what he wants but it is still hard, for both of us. I want so badly for life to be easier on him. Selfishly I won't deny that it is hard not hearing "I love you" from him. I see other moms talk about their child and how much they are talking and how they run up to them and say "I love you mommy".  Don't get me wrong I am so happy for them but sometimes I wish things were not so hard for Jacob. But then there will be moments when Jacob will run up and give me a hug and a huge grin and I know he is telling me in his own way.

We reached another big milestone. I finally felt comfortable enough to have Apria come pick up all of the Oxygen tanks, the big stand alone tank and the concentrator. It was a great feeling to see those taken out of the house. They have been here for two years. We are going to keep one small travel tank and the pulse ox machine. I don't see me getting rid of those anytime soon. I can pretty much guarantee that I will keep the pulse ox machine until at least 6 months post-fontan.

We will be heading to Cincinnati in about a month or so to meet with hematology and get another ultrasound of the clot. We will also be discussing the plan for his lovenox shots. Hematology generally will take kids off after 3 months of therapy but Jacob's cardiologist here and his Cardiologist at CHOP want him to be on it longer, most likely until his Fontan. Jacob is very high risk so we need to make sure he doesn't get any more clots prior to his next open heart surgery.

While in Cincy Jake will also get a cardiac echo. I have been a little worried lately because his lips have looked more "Blue". His oxygen levels have also been dipping into the mid 70s some which is not his norm. They always level out around 80 though which is normal for him. I spoke to his cardiologist and Dr. Heydarian said as long as he is leveling out around 80 then we should not worry. If he starts dipping and staying in the lower 70s or below then we may need to push up his Fontan. They want him to be at least 15 kilos for the fontan and right now he is about 12kilos (28lbs.). Right now the plan is to have his Fontan next year or possibly 2014 if he can wait that long. I am praying he can because studies are now showing that HLHS patients are showing signs of liver issues and the Glenn circulation is much better for their liver. CHOP is currently researching this but the hope is that if they wait as long as they can for the Fontan that the patients may not have as many liver issues like they are seeing now. I am kind of nervous for this heart echo because he has been more "Blue" lately so please pray that his heart function looks good. Jake has already had one major surgery this year so I do not even want to think about the Fontan yet.

We are also going to try and participate in the Neuro Cardiac Clinic while we are there. This is where Jacob would spend a day seeing about 6 different specialists who would evaluate him and give us advice on therapy that he should be getting. Hypoplasts are at risk for developmental delays because of the low oxygen levels. We know Jake is significantly delayed in speech so I think it is even more important that he participate. They will see him once a year prior to him going to school to help prepare him and make sure he is getting the most early intervention possible. I love that there are so many great programs for our kids.

I can't believe how fast these boys are growing up. Aidan will be starting Kindergarten in a few weeks! I hope to find a local "Mommy and Me" group for Jake and I to go to while Aidan is in school. I think having him around other kids who are verbal will really help him with speaking. It will also help him socially. Jake is a bit of a bully when it comes to other kids and sharing. Aidan being in school will give me more one on one time to work with Jacob.

Here are some pictures from our trip to Massachusetts. 

Jake and my Uncle John in Jail
(the bathroom aka the dogs room)
Brady fans eating cookies
Jake isn't really sure about this guy lol
Aidan, Jacob and their second cousin Tyler
So blessed
Plymouth Mass.

Mayflower II
The boys and I exploring the Mayflower
The boys and I in Plymouth Mass.
Plymouth Pebble Rock
Nana and Jake
Nana and my boys

Aidan with Uncle John's baby (His Shelby Mustang)

Aidan driving the Shelby

My Family

My Uncle Paul, Aunt Diane, Mom, Uncle John and Nana

Sunday, June 24, 2012

Great Results...

We are back from Philly and excited to announce that overall we got Great News!


We left on Wednesday and headed back to our home away from home (CHOP). We had to be at the hospital at 6:45am on Thursday morning for Jacob's scope. We checked in at the Cardiac Prep and Recovery Unit and they took Jake back to prep him for his Broche. Jake was not a happy camper. He wouldn't let the nurse do anything without crying. We met with his surgeon and cardiac anesthesia and then they gave Jake Versed. For those who don't know much about this drug, it is the ultimate "Happy Medicine" lol. It basically calms them down and also has a bit of a amnesiac effect. Jacob had his head resting on my shoulder and I thought he was falling asleep. All of a sudden he popped up his head and started CRACKING UP. I couldn't help but to laugh at him. The medicine had taken effect. He didn't even mind the nurse checking his temp and other vitals which he usually hates.

The best part about Pre-Op was Jake's oxygen levels were 87 and above almost the whole time! This is great for him.  Before his airway surgery he would usually be between 78 and 83 but never high 80's. I have a pulse ox at home but only check it if I have reason to be concerned. I hadn't checked him since we first got home. I had hoped his oxygen level would go up after surgery but wasn't sure if it would. 78 to 85 is pretty typical for a Hypoplast but 87 is WONDERFUL!

Jake went back for his surgery shortly later. His surgeon Dr. Zur came back up less than an hour later to let us know that everything looked FANTASTIC. It took them longer to place the IV than to do the actual scope. His airway looked so great that he doesn't need another scope for 6 months!!!! That is great because they usually do another in 3 months but she said the airway has healed beautifully and she couldn't be happier. Dr. Zur said she doesn't expect any scar tissue to come at this point and thinks he will continue to do well.

I discussed with her what we should expect with his voice and function of his vocal cords. They are both paralyzed and it would be extremely rare for the function to come back at this point so most likely they will always be paralyzed. That being said he should still be able to talk. His vocal cords are still close together even though there is no movement. They basically opened them up enough to get air through but not too much that way he could still speak (Before it was covered scar tissue and only had a pinhole opening so he couldn't move enough air through). Jake was so vocal the past few days. He isn't saying words but he is making so many sounds. It is like he is babbling all of the time. He is starting to put words together as well. He will clap and say Yay! He will say Yeah and is mimicking us so much more now. It is amazing the progress he has made in the past month since he had his surgery. I am very hopeful and excited to see his progress.

I also talked to her about the strider we have heard since his surgery. She said there was some Laryngomalacia.
Laryngomalacia (literally, "soft larynx") is an unusual condition, in which the soft, immature cartilage of the upper larynx collapses inward during inhalation, causing airway obstruction. 
It was not bad but could cause a little noise when he is active. She said it should go away as he gets older and there is nothing they would do for it right now. His airway looked beautiful and the laryngomalacia was very small.

Dr. Zur said he may be able to stop his Prevacid in about 6 months (after the next scope). I could not have been happier with how everything went. We were brought back to see Jake and he was not the giggly boy we saw go off to the OR. He was PISSED! It took a while to calm him down but he did great and his oxygen and blood pressure looked perfect so we didn't have to stay long and he definitly didn't have to spend the night in the hospital. While waiting to be discharged Dr. Zur asked plastics to come take a look at the black blistered area on Jacob's head. I had asked her if they could since it was not found prior to being discharged after his surgery. I told them about the infiltration that happened with the central line. They looked at it and said it was a pretty big and bad blister but it has already started falling off. He said that it is also being held on by his hair and once the edges curl up more I will have to cut the hair behind it so it will come all the way off. I talked to them about how his hair was falling out. They said that with a blister that bad it is common for the hair in the area that was infiltrated to fall out all at once but it should all grow back. It will probably take at least 6 months before it grows back.

We were discharged from the hospital and made our way back to the hotel. It was kind of interesting because I got in the wrong lane and we ended up in Camden New Jersey lol. After fighting with the GPS on my phone we decided to do it the old fashioned way and my mom found a sign back to the Ben Franklin bridge. A few minutes later we finally were back at our Hotel. Jake was pretty fussy most of the night. He wanted to go home so bad. He kept bringing me his shoes and going to the door and waving bye-bye. It was so sad he didn't understand we had another whole day of testing.


The next day we had to be at the hospital at 7:30am. First we took Jake to have a ultrasound of his clot. He HATED this and screamed pretty much through the entire thing. After the ultrasound we went to hematology to discuss the clot in his jugular. This part was not the best news. Not what I was expecting. The clot hasn't changed at all. The GOOD news is that the clot has not gotten bigger. The bad news is his body has not absorbed any of the clot and at this point it is unlikely that it will. The hematologist said that after a certain point the body doesn't absorb it but turns the clot into a scar. Basically it fills in the jagged edges of the clot. It is the bodies way of "Fixing" what is wrong. It then hardens. The blood needs a way to move around since it can't go through that vein so it builds a bunch of smaller branches around it. She explained it a really great way. The juggular is like a super highway. When the highway is blocked the body created smaller backroads to move blood through. Those backroads are called collaterals.

They want us to go to Cincinnati in 6 weeks to do another ultrasound. If it is not changed at that point it most likely won't ever go away. I was concerned on if it could move and go to his brain and cause a stroke but they said that at this point he is not at risk for that. It is hardening and becoming a part of his body. The body basically looks at it like if it can't make it go away then it will just make it a part of it. So that was a big relief to hear. The shots (Lovenox) is doing it's job because it has been preventing more clots from forming in that area. She said if the next ultrasound shows that it is the same then they recommend going off Lovenox because the body won't be at risk for more clots forming at that point. It will be scarred over completely. Jacob's cardiologist at CHOP said that she wants him on the shots for at least 6 to 12 months. Probably because he will be having another open heart surgery in a year or two (Can you say vomit). Hematology is going to consult with her and see what she wants to do about the shots. He will at least be on them another month or two. Most likely he will continue to be on them longer but I am hoping we may be able to go to once a day instead of twice.


Our last test of the day was the Swallow Study. This was the one that we were really anxious about. Jacob didn't want to drink any of the barrium but they were able to see a few swallows. He did NOT aspirate at all, even with the super thin liquid that is like water consistancy! This is GREAT NEWS! ENT cleared him to eat any foods he wants. That was the biggest thing I had hoped for as far as eating. Just for him to be able to eat meals again and his cookies! So that was wonderful to hear. He is also allowed to start transitioning to thinner liquids. Because she was not able to see him gulp a ton of the liquid she was not comfortable with just giving him a cup and letting him chug at home. It makes sense that we need to transition. We have a good plan. I am going to start mixing his sippy cups to be necter thick. It is about half as thick as the "Honey thick" he was on. I am going to give him one to two of these a day and still use his tube about 2 times a day or to make up for whatever he doesn't drink from the cup. They told me how I can naturally thicken his liquids without buying the expensive thickeners. I can put apple sauce in apple juice, pudding in Chocolate milk etc. Then as long as he does well with the Necter thick then we can go back to thin liquids. I am also controlling his portions of food since he is a crammer (He shoves tons of food in his mouth to the point he can't chew well). I will also be controlling his sips from the sippy cup at first.

When we go for his scope in 6 months I am also going to see speech and if he is no longer using his tube we will discuss getting the g-tube REMOVED! It will probably take a month or two to get him back to his normal eating and transition the liquids but I am so excited we can start moving in that direction. Jake was super excited because he was able to have what he has been asking for all month...


After his appointments we went to the cafeteria and ate so we made sure to get him the biggest cookie we could find since he did so well! He of course started cramming it in his mouth so I had to break it up and give him small pieces.

We didn't want to watch Jake be sad all night at the hotel again so we decided to hit the road. Had the weather been cooler we may have stayed but it was over 100 degrees and there was not much we could do. So around 2pm we were packed and started our 9 hour journey back home. We got home around 11:30pm. It was a very long day but worth it to wake up in our own beds!

I had told Aidan that if Jake did well on his test we were going to throw him a COOKIE PARTY! I am true to my word so tonight I invited my parents, my sister and her kids over. Andy's mom is also in town so she was here to celebrate as well. I made some cookie monster cupcakes because what is a cookie party without the cookie monster! I had to improvise on the eyes because the store didn't have what I needed so i used coconut. I don't think they turned out too bad considering I threw it all together in a few hours. We all sang "Happy eating day to you..." Jake was glowing he was so happy.

It was a great night.

• Airway looks wonderful
• Clot hasn't changed
• Jake can eat solids and start transitioning back to thin liquids
• Follow-up with hematology in 6 weeks at Cincinnati Children's to check clot
• Follow-up with ENT in 6 months for another scope of his airway
• Follow-up with Speech in 6 months to evaluate getting his tube out
• Possibly getting off Prevacid in 6 months
• Unsure of when he will be done with Lovenox
I can't thank everyone enough for all of the prayers that were sent up for our little warrior. We couldn't be happier with all of the results. He is doing so well and I see progress daily with his speech and development. I am so hopeful and could not be more proud of my boys!

Here are some more pictures of our cookie party! 

Monday, June 11, 2012

Just when we get settled... it's time to head back.

I am SOOOO sorry I have not wrote in so long again. I promise I mean to but life happens and I just have been so busy lately that unfortunately the blog has been neglected. I think I take for granted that everyone sees my posts on FB and forget that not everyone is on facebook. So for those of you who have been waiting patiently for an update I apologize. I have been working on some pretty exciting projects and I can't wait to share them with everyone but this post will be long enough with Jake's update so I will do a separate post soon letting everyone know what has been keeping me so busy!

Now for the reason you come here... Jake Update! 

Jake is doing wonderfully! He has made really great progress since we have been home. The biggest change is he is interacting so much more with us. Before we were concerned because he had a blank expression on his face a lot of the time and didn't look if someone came or left. He pretty much could care less what was going on around him. Now he is engaging and waving and interacting with everyone which is so exciting for us. He is also signing appropriately which is so nice. Before he used to sign just to sign but didn't really use it to communicate. It was kind of like baby babble but with signs. Since we have been home he is using it to tell me his needs. His tantrums have pretty much gone away completely (Other than typical 2 year old fussiness). Tonight he even signed "Time Eat" which made me so excited because he put to words together appropriately. That is the next step in his signing. If you think about it like a child who learns to talk. First they babble, then they start using the words appropriately and then they start putting words together to make sentences. Jake is following the same progression just using signs. He is trying so hard to be able to communicate with us more and I am such a proud mama. He makes up his own signs sometimes which I don't always understand but I try to learn from him and eventually figure out what he is trying to tell me. He started signing Banana but he wasn't using the correct sign. I wasn't getting it so he walked me over to the counter and pointed lol. Then I knew that what he was telling me is his sign for banana. He is a pretty smart kid :) He made up a sign on his own for an iPad which is him holding up his hand flat and then using his other hand to look like he is pushing buttons on it.  I know most kids his age are talking a lot by now and he is delayed in speech but I have to say I am amazed by his ability to overcome his disability and find ways (His own way) to communicate with me. He is seriously my hero and I am beyond glowing with pride. 

I was concerned for a while when we got home that his strider was returning. After sending video's to his surgeon at CHOP and working weekly with his speech therapist I am not concerned anymore. CHOP said that there was nothing they heard that was concerning to them and that they agreed with our speech therapist here that Jake was just finding his voice. He likes to hear himself talk. He is starting to try and talk some. Jacob could possibly have Apraxia of Speech. It is commonly seen in children who have a rough start in life. Apraxia is basically when the child can understand what they want to say or what you are saying but they have difficulty communicating it. It is something that can be overcome but we basically have to retrain his brain. This starts at a very basic level where we first tried to get him to open his mouth when we asked. Now we are working on vowel sounds. He has started doing those but still keeps his lips pursed most of the time. 

The other day his speech therapist was here and I was telling him to draw a circle on the chalk board. He drew would then draw a circle (Which by the way is a 3 year old skill) and we would clap and say yay. One time we didn't say yay quick enough and he turned around and in a very deep crisp voice he looked at us and said "YAY!". Our mouths just dropped because the sound was so amazing. It was so crisp and not raspy like he does sometimes. Plus he was SPEAKING, not just making babble. That same day he was signing hat and tried to say it, he said "Haa". He is trying and that makes me so happy. I have always said that even if he never talks we will still be so proud of him and we would teach our whole family to sign for him. But seeing him try to communicate and seeing how happy it makes him really melts my heart. 

Brynn (Jake's speech therapist) and I have talked a lot about the fact that Jake probably could not hear before his surgery. His breathing was so noisy it was probably hard for him to hear anything but his own sound. We had a hearing screen done and they said he could hear loud noises but it was inconsistent with the quieter noises because of his breathing. The hearing specialist also told me that for kids who have to work so hard to breath like Jake did can have their ears pop a lot because of it so that can also affect hearing. So he may not have interacted much before because he couldn't hear us. When I would get frustrated because I would call his name 10 times and he wouldn't turn around, maybe he didn't hear me. Since we have been home he does "Hear" me. I call him and he comes. When I say we are going bye-bye he gets up and goes to the door and follows me to the car instead of running the opposite direction. The other night I told him it was time to get out of the bath and he stood up and held his arms up for me to get him out. This may sound like small stuff to everyone else but for us it is HUGE. To be able to know that Jake understands me and see him progressing so much it just is such a relief for me. I feel like we can connect so much better now. I know we have a long way to go but just in the past month Jake has come so far. 

Physically Jake is back to normal. He is climbing on everything. He is running and playing better than ever. The black spot on his head where the skin died from the infiltration is still there but has started to lift on the edges. I am kind of afraid for it to fall off. I have no idea what it looks like under there. I also noticed the other day that he is starting to lose his hair across the bottom of his head where all of the fluid was. I got upset when I noticed the bald spots. I know it is very minor compared to everything else. It is hard to explain but when you have a child with a life threatening illness you are on edge all of the time. You question everything worrying that even the little things can be big things. I don't dwell on his illness, many days I don't even think about it. But when you notice something your mind starts racing, after everything he has been through how can it not. Then you question is it something, is it nothing, should you call the doctor or just wait and see. So there he is playing in the bathtub and I am staring at the shape of his head worrying. Thinking his head looks big in that area and maybe he still has fluid under his skin and that is why the hair is falling out. Then I started comparing his head shape to Aidan's which is silly since everyone has a different shaped head (Yea, I probably need therapy lol). After a few moments of panic I convinced myself that his head shape is fine and there is no fluid, the hair is falling out because of the infiltration and the damage the fluid must have caused to his hair folicals when it was swollen. I just pray that the hair comes back eventually because Jake has had to deal with so much. Yes this is minor but there are so many things that they add up and I don't want this to be yet another thing for him to have to deal with. 

We finally have gotten settled and now we are planning to head back to Philadelphia. Andy and my mom have to work so Jake and I will be heading to Philly on our own this time. This will be my first time driving there by myself so I am a little nervous about not having anyone to help entertain Jake in the car but we can do it lol. Aidan will have to stay in WV though because he is not allowed to be back in the Cardiac Prep and Recovery Unit and I have to be back there with Jake before and after the scope. My parents and my sister will watch Aidan while Andy is at work. I have to head up on Wednesday. Jake will have his bronche on Thursday. He should be outpatient and be able to go back to the hotel that night. Friday morning we will head back to CHOP and meet with Hematology. They will do a ultrasound of the clot to see if it has shrunk any. Then we will go for a Swallow Study to see if he can start eating by mouth again. He is doing good with the purees but still misses getting to eat like he used to. Please pray everything looks good! 

Provided everything goes as planned we will be coming back on Saturday. Then we will have to go to Cincinnati every 2 months for follow up bronches and ultrasounds of the clot. It is going to be a very long year! I really hope the clot is shrinking but even if it does shrink he has to remain on the lovenox shots for at least 6 months to a year and they are talking about keeping him on it until his Fontan which may even be 2 years away. His poor little arms and legs are so bruised up from the shots. I can't wait until he no longer needs them but it will be a while. I think I took for granted how "Normal" our life had become. Now I feel like we have been thrown back into the pre-glenn phase where he is on more meds and tube feeds. Worrying about him aspirating. I can't tell parents of healthy children enough to never take anything for granted. I wouldn't trade any of it for the world though. Jake is worth all of this and more. He is amazing, my miracle. My hero. 

Please continue to keep my little warrior in your prayers. I promise to give updates on Thursday and let everyone know how he does. 


Aidan and Grandpa planted Aidan his first garden!