Thursday, August 4, 2005 - Today was another mild day for Jacob.  They have been trying to wean him off the heat lamps for the last day or so, but today he just couldn't seem to keep his temperature up, so they had to turn the lamps back on.  They have however, moved him from one side of the NICU to the other side, which signifies that he's more stable & no longer necessary to have him on the 'critical' side.  He did have some alert times today & I got to see his eyes a bit more.  The swelling has gone down tremendously as well, we are thinking he may have had an allergic reaction to the medicine used for the eye exam.

He's up to eating 45 cc's every 3 hours & tolerating it very well.  Since he is still on the nasal canula, they have moved his feeding tube from his nose to his mouth.

During his awake times, I worked with him on sucking the pacifier.  Although I didn't get much response from him, he did grab a hold of it & give it a couple sucks.  I also noticed that he's swallowing pretty good.  All good signs that eating the right way just might be in his future.  We also got some 'scrap' worthy hand & feet prints for his scrapbook.

Now on to something very interesting.  Yesterday while I was reviewing the Dr's notes in Jacob's chart, I came across something that the pediatric neurologist said; he thinks Jacob may have something called "hyperexplexia" (stiff baby syndrome) which is a neonatal version of "stiff-man syndrome".  After reading this, I decided to do a bit of research on my own to see what it actually means.  I was amazed at what I read.  Here are two links that talk in detail about the syndrome:

http://www.sbs5.dircon.co.uk/medtext/hyperex.htm
http://www.medterms.com/script/main/art.asp?articlekey=8297

To me, this fits both Brianna & Jacob almost exactly:

1. exaggerated startle response (Jacob)

2. hypertonia (stiffness) diminishing over the first year of life (Brianna & Jacob)

3. strong brain-stem reflexes (especially head-retraction reflex) (Brianna & Jacob)

4. some cases, epilepsy

5. hiatal hernia (Brianna; no testing done on Jacob yet to determine if this is an issue for him as well)

Other interesting points about the disease:

1. The evolution of the disease is characterized by a delay in reaching motor 'milestones' (for example, walking). 

2. The hypertonia is reduced during the first two years, but abnormal reactions such as involuntary starts remain after the slightest stimulus.

3. hypertonia is linked to a hyperactivity of cortical neurons

4. evolution of the disease is benign when treated

5. There is neither mental nor neurological deficiency.

So today, I tracked down the neonatologist & asked him some questions about it:

1. Why hasn't the pediatric neurologist mentioned this to us?  Why did I have to read it in the report to find out about it?

2. If he is leaning towards this, has he ordered the test for this exact DNA to determine if this is 'the one'?  If not, how come?

The neonatologist was intrigued & appreciated me being so persistent about it.  When I mentioned all the things that I had read & how it matched up with both Brianna & Jacob, he was very interested.  He was going to do some research on his end this evening & get back to me tomorrow morning.

I never heard this terminology with Brianna.  For such a rare disease, it amazes me that the pediatric neurologist has chosen this as the possible answer.  How did it get missed with Brianna?  I find it very fascinating.

There are a couple questions I have that I couldn't seem to find answers for on the internet:

1. What developmental issues do the patients with this disease have?

2. Was there atrophy of the brain?

I hope to have some of these questions answered tomorrow.  Wouldn't it be nice to at least have a diagnosis?

Overall Status: Good Day

Visitors: Pastor Keith Lauwers & Colleen

Friday, August 5, 2005 - First, I think it's important that I give a big thank you to everyone that has either sent us an email, signed the guestbook, visited us, sent us something in the mail/flower delivery,  and/or is reading these updates.  Although I may not respond to each email or guestbook entry, know that your words of encouragement are very much appreciated.  When I'm up at 2-3-4am taking care of business, i.e. feeling like a cow--mooooooo, I always tend to check my email & read the evenings messages in the guestbook.  Nothing makes me happier & more relaxed as I head back to bed, knowing that we truly aren't alone in this & that so many people are praying for our family.  So to our family & friends & the hundreds of you we don't know, THANK YOU.

It was another day in "Vegas"...as a friend of ours called it when he came to visit the other day, referring to all the alarms going off & lights flashing every now & then as the babies need attention for one reason or another.

The nurse informed me that Jacob had a long awake period this morning, and yes, I missed it.  DANG IT!  He was looking around quite a bit & talking back at her as she did her every 3 hour cares on him.  They increased his feedings to 50 cc's today & he's tolerating it very well.  I brought in his fuzzy blanket to keep him warmer, hopefully he can get off those heat lamps for good now!

I spent all afternoon holding him in a lazy chair with my feet propped up; even took a little snooze!  Kind of hard not to when you have a baby bundle warming you up.  Once daddy arrived, we put him back in his bed to change his diaper & check his temperature.  Low & behold he decided to wake up for us!  It was the first time Kevin has seen his eyes open since the moment he was born!  Grandma & Grandpa also came to visit & got to see the lil' guy awake.

I did chat with both the neonatologist & the pediatric neurologist regarding testing for hyperexplexia.  Without going into major details that I can't explain, we are still trying to determine if the test will be beneficial.  The Dr that is in charge of the lab that does the testing in Wisconsin, doesn't believe Jacob's case will give us a positive result.  Apparently there are 2 versions of this disease, 1) sporadic, just all of a sudden appears in families, & 2) hereditary & is common in families.  The sporadic version has been pinpointed to a specific gene in the DNA, the hereditary version has not, so it ends up being a 10% chance of diagnosis.  What's crazy to me is, doesn't hereditary have to start somewhere?  At what point is it considered sporadic vs. hereditary?  In my opinion, my case would be sporadic, as there is no family history whatsoever, but then again, when is it considered hereditary?

The test is $400, which is chump change considering how much the bill is on a daily basis with Jacob being in NICU, so that's not really an issue.  My gut is telling me go with it & I'll have an answer in 7-10 days.  I'll talk more about it with the Dr's this weekend & with Kevin.  By Monday we'll have made a decision.

When Jacob first arrived in NICU, the neurologist felt this is what it may be, however, after he's seen Jacob for a week now, he's not so sure, but has no problem with having us run the test anyways.

He's also going to start him on a 2nd medication, Keppra, on Monday that he's hoping will help control his tremors a little more.  Course it also causes sedation, so we may be back to square one next week with waiting for Jacob to level out & start waking up again...it's such a vicious cycle.

Overall Status: Good Day

Growth Stats:
     Weight: 6 lbs 9 oz

Visitors: Celeste, Brooke & Cindy, Terri, Grandma & Grandpa

Saturday, August 6, 2005 - When I arrived at Jacob's bedside today, Dr Avila was there reading over all the documentation that Dr Jacob provided for the Hyperexplexia test.  He was in awe of what he read.  He thinks we might be on to something & reassured my initial reaction, that yes, we need to have this test done.  Aside from the physical features that match this test, there is something that has come back as abnormal in his blood that also plays a factor with this disease.  Could we really be on to something here?  My only hope is that the test yields a positive result & is the 'sporadic' version vs. the hereditary version.  Dr Avila also interpreted the information as I did, in that it appears that this disease only affects the first 1-2 years of life & the children are normal.  Yes, there may be developmental delays, but they are by far, mentally retarded or anything of that nature.  I can only pray that God will bless us with this & finally provide an answer.

There is another disease that the pediatric neurologist would also like to test at the same time, Coffin-Lowry Syndrome, that he informed us about yesterday.  Dr Avila stated that the difference between the 2 Syndromes is 1) Coffin-Lowry is prone to have seizure activity (more so then Hyperexplexia) and 2) instead of becoming stiff later in life sporadically, the patient becomes floppy.  While I didn't get the chance to read the information about this disease at the hospital, I started doing some research on the internet last night.  From what I can tell, this disease doesn't match up at all in either case, so I'm a bit perplexed.  Maybe the documentation that is at his bedside will help me understand why they feel Jacob fits this profile.

I gave him a 2nd bath today while Amanda was there.  He woke up & not only did he pee all over his bed before his bath, he proceeded to poop all over the towels afterwards...and as I put his fresh diaper on, he decided to finish the job.  However, in case you were wondering, he didn't get me at all.

Amanda is such a proud big sister.  She was very excited to see him again & yes, the first words out of her mouth were "Handsome Boy Mommy"...that's my girl!!

As for Jacob's progress today, he had multiple alert times & tracked voices very well today.  Things are for sure looking up.

Overall Status: Good Day

Visitors: None

Sunday, August 7, 2005 - Kevin & I didn't get to spend too much time at the hospital today, which of course, I feel guilty about.  After church, Amanda's nap, etc. it was 4:30 before we got there.  The nurse reported that he's had a great day!  He's waking up just before feeding time & showing signs that he's hungry.  She caught him moving his hands to his mouth & making some sucking gestures too!  Since his next feeding was at 5:00, I worked with him using the pacifier; it took a little while to get him to open his mouth & once I had it in there, he did chomp on it a few times...nothing spectacular, but at least a start.

They also lowered his oxygen level this morning to .3 liters & he was tolerating the lower dose just fine!  Here's hoping we can get him weaned off of that soon.  Aside from that, he had an uneventful, quiet day.

Tomorrow morning the Dr on duty will be calling the lab to find out if they can run the test for Coffin-Lowry Syndrome at the same time they do the Hyperexplexia test.  If all goes well, we'll meet the 1:00pm deadline tomorrow.

I had to force myself to go to church today, 1) because I was really tired & 2) because I'm still struggling with leaning on God right now.  When I arrived, I found myself trying to avoid people I knew just so I didn't have to face the fact that I wasn't pregnant anymore, let alone hearing the next question "where's the baby?".  After a failed attempt to avoid somebody, I realized I can't hide from those that are trying to reach out.

As we started to worship, the tears began to fall.  "Show me the path.  Give me direction, the doctors wisdom & Jacob the strength to get passed this.  It doesn't matter if he's not perfect, he's just as you made him.  All I ask is that you allow him to stay on earth with us & teach all of us the patience we'll need to care for him." This was my prayer.

A few minutes into worship, one of the singers made her way to the front of the stage & begins to tell a story, a story of her now 28 year old daughter, who is autistic.  She went on to share how much God has changed their lives with the ups & downs of learning how to deal with an autistic child.  One who can't speak, knows very little sign language, and uses body language to communicate most of the time.  As I listened to her tell this story, I sobbed.  I knew then, this is why I'm at church today.  God wanted me there to hear this.

It's amazing how He uses other people to remind us to lean on Him, even when times are rough & we don't understand the why's, God knows what He's doing & He has some good to come out of this, even if we can't see it now.

Overall Status: Great Day!

Visitors: Kathy Beelmann; Grandma & Grandpa

Monday, August 8, 2005 - Jacob had another good day today.  His muscle tone was more relaxed over yesterday.  He was stretching out his legs on his own & didn't give me much resistance when I stretched his arms over his head.  His oxygen levels were very good with no dips & they may drop him down to .2 liters this evening.  His feeds have increased again to 55 cc's every 3 hours.  His umbilical cord is about ready to fall off too!  Dr A. Johnson, the pediatric neurologist, stopped by today to ensure that the lab work was done for the 2 genetic tests, as well as to check in with us to see how we felt Jacob was doing.

After chatting with him a bit, it was decided to increase the Klonopin a bit higher then the original dose.  The goal is to get the myoclonic movements a little more under control, without compromising his breathing ability.  Dr A. Johnson feels that he may be having myoclonic movements in his lip/cheek muscles, which could be prohibiting him from wanting to suck/swallow.

The nurses have begun to nipple feed him with a bottle to see what he does with it.  The first try was during the 2:00 feeding.  Although he was very aware that something was there, he didn't do much with it.  He moved his tongue around, made a very weak suck attempt & some funny faces.  The nurse did consider it as having an interest though, which is very promising.  During this attempt, he was stimulated quite a bit & his lips began to quiver.  I wondered if it may be a seizure, but when we pressed our fingers on his chin, the movements stopped.  Had it been a seizure, you wouldn't have been able to stop it.  This proves the theory of the reason why he may be lacking in the suck/swallow category.

The next several days may appear to be a bit of a setback with the increase in medication.  The hope is that after the medication levels out, he will be back to waking up, have less or no myoclonic jerks & continue to show signs of eating.  Depending on how well he tolerates the increase in medication, he may need to be intubated to get him 'over the hump'.  Time will tell.

Both the Dr & I agreed that it was much better to try out this increase with him in the hospital then at home since he has 24/7 nursing staff.  We also decided we wouldn't try the Keppra at this time & see what the Klonopin does instead.

One thing that I keep forgetting to mention, after reviewing the CT scan & MRI again, the Dr's have concluded that since the amount of brain atrophy is so minor, they are considering it normal.  If you were to look at a perfectly normal person's brain, you might find the same amount of differences.

So far, I'm very pleased with Jacob's progress, and even though there may be a few steps back over the next several days, I have hope that things are looking better.  The doctor told me today, the only thing keeping Jacob in the hospital right now is his lack of eating, & since nobody is wanting to rush to the surgery room to place a G-Tube in his lil' tummy, we'll just need to give him some time to respond & learn how to eat.

Overall Status: Good Day

Visitors: Pam, Melanie, & Sara

Dinner Provided By: The Keffalos Family

Tuesday, August 9, 2005 - The increase in Klonopin appears to be working.  Jacob's jitteriness decreased by late afternoon.  He also had a big alert time from about about 11:00 - 2:00, where I worked with his suck/swallow quite a bit.  I started using my finger so I could get a better feel for what he was doing.  As I depressed his tongue, he would suck!  If I depressed just behind his chin, he would give a good swallow.  So I'm convinced that he has what it takes to do it, he just needs some practice!  While I was working with him, his mouth area was less over-stimulated with no noticeable signs of jitters, big difference over yesterday.

Dr A. Johnson stopped by for another visit about 4:30, after he was very sound asleep.  He was very impressed with the changes in his muscle tone over yesterday.  The original plan was to increase his medication a little bit each day, after seeing him today, he's decided to leave it as is.

Jacob does appear to breathe a lot shallower while in a deep sleep, which requires him to have more oxygen.  Dr A. Johnson said that we may have to make a compromise, see more jitters or have respiratory issues.  We'll see what Jacob does over the next few days on the new dose.

He is feeling more & more confident that we may be getting to the bottom of this.  He does feel that this is a 'recessive' mutation, meaning it took the exact 2 people to cause this.  Like a 1 in a million chance of it happening again.  He said the chances of it happening again to us is likely about 25%.  It was just the right 2 genes at this given time between Kevin & I to cause the syndrome.  Hopefully that made some sense to everything reading this!  He explained it much better then I am!

He did mention that Jacob will most likely come home on a saturation monitor, so that we can keep an eye on his oxygen levels, which means he may come home with oxygen as well, maybe not for us to use all the time, but to at least have it here in case it's needed.

He's also been in contact with a Dr in New York that is very familiar with this disease.  He's trying to find out where he can send a spinal tap for testing.  Apparently, the spinal tap will give a more conclusive result then the blood test.  Not sure how that all works, but that's what I know!  Hopefully he'll get that information soon so it can be sent out & maybe return about the same time the other test does.

It was great to see him awake for such a long period of time.  He cooed a lot & I think even let out some cries when it was around feeding time.  There were a couple of other babies that seemed to cry a lot today & I think he reacted to that too.  It was fun to listen to him!

Well that's all for today, more good news & more 'wait & see'.

Overall Status: Great Day

Growth Stats:
     Weight: 6 lbs 12 oz

Visitors: Colleen, Mary M. & Celeste

Wednesday, August 10, 2005 - I'm so happy to report another mild day in the NICU!  Jacob had his usual alert times around feeding time & is continuing to show signs of sucking/swallowing.  In fact, at his 5:00pm feeding, he ate 3 cc's by bottle!  By the way, for those that are wondering, 1 cc=1 ml; 30 cc's = 1 ounce.  So it's a very small amount but it is for sure a start.  Although most of it was from the bottle dripping in his mouth, he did clamp down on it a few times & he didn't choke on any of it.  I heard good swallows.  I didn't see any Dr's today, so nothing more to report there.

While the occupational therapist was there today, he was alert & relaxed.  He was doing so well that we had to decrease his oxygen & put him on room air for a while!  Yippee!!  Although when he went back to sleep, we had to turn it back on...he just gets too comfy while sleeping.

Jake & I rested in the lazy chair most of the day while visiting with our friends & family that stopped by.  I did browse through some new scrapbook magazines while we hung out & even managed to strike up some conversations with a few NICU staff who are interested in attending Crop for Cancer this year...yahoo!!  Speaking of, if anybody reading this lives near Anchorage & loves to scrapbook, I've got tickets & they go on sale August 15th!  *wink

Well I think that's about it for this entry, let's hope for some more progress tomorrow!

Overall Status: Good Day

Visitors: Heather, Grandma & Grandpa, & Becky

Dinner Provided By: The Cagley's

Continue to Week 3

Web Design By www.kreationstation.net Some Graphics From www.PCCrafter.com
Copyright © 2005 www.kreationstation.net