Saturday, February 25, 2012

Long time, no blog.

It was bound to happen, I knew I'd not keep up with this as well as I should. But, I guess in a sense, that's a blessing because thankfully Colt has had a pretty uneventful couple of months. We followed up with Neurology in January, and his neurologist was EXTREMELY impressed that we haven't seen a seizure since September. His Keppra dose (the only seizure medicine that he's on) is still at a very mild dose, and Dr. Farber kept it there since we don't really have a need to increase at the moment. One thing I have noticed while reading up on other 1p36'ers is that the majority of them take up to 3 seizure meds a day, and still have very little luck keeping them controlled. We are very blessed to not be in this boat. He is, however, going to have to have another MRI done to compare to his first back in August. Because of the characteristical large anterior fontanelle of 1p36 deletion syndrome, his neurologist wants to do a follow up and check up on things. Confession: of all the procedures I've seen this little boy go through, I HATE MRI's the most. The noise scared me and I worried about him being scared the whole time.. To my surprise, he was fast asleep when he came out! So, April 9th is our next MRI date, will be so glad to get that over with!

We also recieved our official "write-up" of Colt from the Geneticist. To mine and Eric's relief, it was clearly stated in the text that we did nothing to cause this, nor was there anything we could have done to prevent it.. Just a genetic fluke. And, it was not a deletion that he got from us.. So no chance of any other children having this. However, we made the decision earlier in our journey with Colt that 2 sweet boys was enough for us.

February 15th, we followed up with Cardiology.. and got an awesome report :) His cardiologist, who I LOVE, pointed out during the Echocardiogram that it is SO hard to even see Colt's primary CHD, Non-Compaction Cardiomyopathy, at a normal speed setting. He literally had to slow the Echo report down for me to even see the lag in function or the many trabeculae that line the bottom of his left ventricle.  His shortening fraction, which we have been advised that if it falls under 27% it is no longer considered normal functioning, was up to 32%.. The highest it has been since his birth. We didn't increase the dosage of any of the three heart medications, again, due to no real need and also a plateau of his weight. We'll be back in 3 months!

Colt has his 2nd hearing test on Monday, essentially set up because he failed his first in the NICU.. But, now knowing of the 1p36, we know that there is a chance of hearing loss. We also are scheduled to see a optometrist to check up on eyesight for the same reason, a chance of different vision problems are associated with this syndrome. However, I think that Colt's eyesight is one of his strong suits.

He rolled over from back to belly for the first time in January! Very proud moment for both me and daddy. Still lacking quite a bit of head control, but he is definitely making huge strides with the help of First Steps.  Unfortunately, right at the peak of his progress, he started the battle of his top front teeth, then pneumonia. We missed 3 weeks of therapy and we took a few steps back. But, he seen both OT and PT today, and they were impressed with how much he was still doing. Our biggest struggle with Colt is that he has his most strength in extension, meaning that instead of bringing his arms and legs into the body, he tends to throw his head, arms, legs outward from his body. Right now, that is where we are focusing our attention and work towards. Once he learns to bring his arms in instead of out, rolling over will come much easier to him.

All in all, things are great with Colt and we couldn't be happier. Sleeping habits are still iffy, he naps more at night and sleep heavier during the day. One of our only concerns right now is health coverage for Colt in the future. No insurance company in this day and age would ever consider taking him. And while, thankfully, right now he qualifies for Medicaid.. We fear that as Eric progresses through his new job and earns better wages, he may lose this coverage. I'm doing my research, because in my eyes there HAS to be something out there to protect children like Colt. Just because you have a special needs child shouldn't mean that you are forced to keep a minimum wage, part itme job just to ensure that your child will have medical coverage. That being said, if an insurance company ever accepted Colt, we would definitely sign him up. But, I do not see that ever happening. We'll keep the mindset that we'll cross that bridge when we get there, but I will still have some sense of direction of where to turn.

Monday, December 26, 2011

No news is good news.

Haven't posted in quite some time, but our philosophy in our house is "no news is good news." Colt had an awesome CHRISTmas, even if he slept through every round of gift giving! Lots of new toys, he loves his activity mat :) But, what made the holiday the best is the fact that we have him here with us. He completes our family, that's for sure!

Since we began therapy, Colt has been doing so much! Although he still hasn't mastered rolling over, he is moving around in every other possible way.  I think that it's just going to take a few more weeks of trying and he'll get where he wants to be!

We see neurology on the 6th, and I am so ready to hear what his doctors have to say. He has been seizure free since September 10 and I think that is a HUGE DEAL! From what I have read from other 1p36 families, seizures are often frequent and hard to control. I thank God daily that we do not have that worry right now. After that appointment, we have cardiology in March. Other 1p36 families that I follow do not mention many heart concerns, so I'm wondering if that aspect of Colt is different from the rest. 

Colt's night/day confusion is still a big issue here at home. He is so wide awake at night, especially the hours of 2-4 a.m. I still haven't been able to figure out how to fix this one, I just hope that one of his doctors can help us with a non-medication solution.

All and all, things are great for us and Mr. Colt right now :)

 Sound asleep!

Matching racoon toboggans!

Sunday, December 18, 2011

Pre-1st Christmas!

Colt has FINALLY kicked this nasty ear/upper respiratory infection. No more fussiness or fevers, thank God!

We had our first round of Christmas with my extended family and Colt did wonderfully. First Christmases are so much fun for parents, but the majority of the time the babies have no idea what's going on. I know it will be a very fun year for Colt's older brother, Andy. He is so excited and tells Colt all the time, "Baby brother, be good. Santa is watching us."

Colt loves to look at our Christmas tree when it is lit up, and thankfully lights do not seem to be a seizure trigger for us. We see our neurologist again on Jan. 6th, I hope we make it til then with no seizure activity. If we do, he will be seizure free since September 10 :)

Since Colt is doing so well, I wanted to take this time to ask for prayer for a special friend's family. A friend from high school's older sister just found out she has myeloblastic leukemia and is at U of L Brown Cancer Center receiving treatment.  Her younger sister is updating daily on the Facebook page,!/pages/She-is-NOT-Alone/218006128274351. Prayers to Natalia for a full recovery and a strong faith throughout her treatment as well as to her very loving, close family.

Wednesday, December 14, 2011

Our little "Hoarse", Colt.

Busy last couple of days for us; appointments, therapies, ER visits.. Never a dull moment, but I swear I wouldn't trade it if I had the chance. 

We met with our urologist and surgeon who will be performing Colt's circumcision. He never had it done while in the NICU due to his health and being on aspirin. But, now, he's stronger and we have been given clearance from cardiology to stop his aspirin for two weeks before the surgery. Some will wonder why in the world I would put him through this, and some like to argue that there is no medical benefit from having this done.. But, I beg to differ so it will be done. We all believe (doctors, us) that Colt is going to do great with the anesthesia and recovery afterwards, so that's all that matters to us :)

He is still surprising his therapists every visit. He is just a smidgen away from rolling over finally. He has good leg strength and knows how to move those muscles. His head and neck are doing their job as well, if he can just figure out his arm/hand placement we will have a mobile little boy! I know he is going to do it soon, we have the BEST therapists to help him and us! They were also a huge help in picking out Christmas gifts for him. As strange as it sounds, we had no idea what to get him. When you have a child who is developmentally delayed, it is SO HARD to pick out what you think he could use/benefit/enjoy.  Thankfully, they have helped us and Santa knows just what to bring him now!

Last Sunday, Colt was extremely fussy. Being the ex-nursing student that I am, I started to do a head to toe assesment to figure out what was bothering him.. and I found the culprits! His bottom two front teeth are well on their way out! However, he still wasn't feeling better and showing other symptoms by late Tuesday night so we headed to the ER. The nurses and doctor confirmed the teething + ear infection + upper respiratory infection :( Right now, he is so hoarse from coughing and crying, he is pitiful. But, with the inhaler and antibiotic, we see a HUGE improvement. The nurse informed me that sometimes when little ones cut teeth, it just aggrivates their entire system; and once one area has infection it is so hard to keep it in just that area since they're so little and everything is so close to each other. Hopefully this is not what will happen with each tooth he cuts, but if so, we'll take care of our little "hoarse" Colt :)

Thursday, December 8, 2011

Late Show with Colt Begley

Well, its after midnight so it's Colt's primetime.  Everynight, he is ready to play and like the Garth Brooks song goes, he doesn't go down till the sun comes up.  Which has put us all on different schedules being that my husband wakes up for work at the same time Colt finally gives it up.  We have tried keeping the environment dark and cool when its sleep time and lighted and warm while awake, but with little improvement. Thankfully, his occupational therapist is going to work with me to help him get back to a normal sleep/wake pattern. Also, I'm very thankful that Roseanne is usually on while we're up :)

Colt started First Steps this week, and those men/women who work as therapists are ANGELS. Saying that they are wonderful with children is an understatement.  While working with his occupational therapist, Colt was grabbing "pegged toys" (they usually link together to make a huge line) and holding onto them for minutes at a time.  To any other parent to a 6 month old, this wouldn't seem like a big deal.. but we are so proud of Colt and all the new things he is learning.  First Steps is a God send for families and children who need them. I'm so glad that Colt has an awesome pediatrician who recognized that Colt would greatly benefit from these therapies.

Tuesday, December 6, 2011

Trying the blog thing out.. Again.

My second attempt at being a blogger, now that life has settled down for us all. My last attempt started with the news that our second son, Colt, was facing some health problems during my pregnancy.  He has had a whirlwind first 6 months of life, complete with close to 10 different diagnoses, with only 1 that has held true. 

During my pregnancy, he was termed "Small for Gestational Age" and I was monitored weekly via sonograph.  Then, with a closer look at his heart, he was thought to have TGA (Transposition of the Great Arteries). A day later and a better look, doctors thought that his ductus arteriosus was closing prematurely, causing his heart to enlarge. With this, we were relieved because doctors informed us that inducing me was the solution and days later he'd be just fine. After birth, Colt perplexed all his doctors and developed PPHN. He was intubated for a little over a week, and was hooked to many different medications. The condition of his heart came back into play, and he was diagnosed with Non-Compaction Cardiomyopathy.

When we finally left the NICU a month after his birth, on 4 medications, we thought that we were leaving with a sweet little boy who needed a little extra attention to his heart.  However, at 2 months, Colt had his first set of seizures.  We were rushed to Kosair Children's Hospital and monitored for close to a week, with no answers when we left and a new medication to his list.  At four months, the seizures returned and we were yet again monitored at Kosair.  This time, his seizures were harder to stop, after many loading doses of his medication Keppra, he was given a dose of a more powerful anti-convulsant, Phenobarbital.  This, in combination of the many seizures he had, knocked him out for over 12 hours.  Very scary moment for us as parents.  Before we left, he had many labs of bloodwork drawn.. And thankfully we found our answer to all his problems. In late October, Colt was formally diagnosed with 1p36 deletion syndrome.  We were so relieved to finally have a straight answer as to why our baby was so sick.  A portion of Colt's first chromosome was missing, or "deleted" and was to blame for his heart condition, his seizures, and his developmental delay.

After finding the true component to Colt's troubles, we were seen by a geneticist who tested our oldest son, Andy to see if he was a carrier for the deletion.  As they predicted, nothing in our family line has anything to do with the abnormality.. Just a weird, medical fluke that happened during development. 

Now, we have a whole list of things to look for, other things that could affect Colt in the future.  So far, he is better than ever :) Although delayed in development as far as rolling over, sitting up, head control, muscle tone.. He is the happiest baby I have ever seen.  He starts phyical and occupational therapy this week and I have heard that this will make all the difference!  He is our little gift from God, given to our family for a distinct reason.  He is going to do great things, we all know that Colt will soar in life!

For more information on 1p36 deletion, please go to