We hit the motherload!

WARNING: FOR THOSE OF YOU WHO HAVE YET TO EXPERIENCE THE JOY THAT IS A CHILD, PLEASE PROCEED WITH CAUTION. FOR THOSE OF YOU WHO HAVE, START NODDING YOUR HEAD IN EMPATHY NOW....

On Sunday, Jackson started with a bit of diahrrea. (Sorry, but it is what it is.) So Sunday, Monday, Tuesday and some of Wednesday went like this: Change a diaper, wipe him down, change his clothes and repeat. Interject a bath, a change of sheets, and a load of laundry here and there. Now after switching to a lactose free formula, things seem to have settled down a bit.

Tuesday morning after the first round of changing (his clothes AND mine) I noticed that his button site looked a little "crusty". So I did my due dilligence and cleaned it faithfully with a hydrogen peroxide and water solution. Wednesday morning I noticed that little blisters had appeared around the site. Thursday morning they were still there which warranted a call to the pediatrician. (Poor Dr. M! Sometimes I wonder if she just shakes her head whenever she sees our number on her caller ID...)

Dr. M confirmed what I suspected - it is likely a Staph infection. Boy did we hit the infectious disease lottery this week! First a lovely GI bug then on to a Staph infection. Now that's some Karma. So now we've begun oral and topical antibiotics in an effort to nip this quickly. The only problem is the anitbiotics will likely make the diahrrea worse....lovely. And Dr. M was quick to advise that we've got to keep a close eye on him to make sure the blisters don't get any bigger. If they do we're off to the pediatrician for some fun cultures.

Think happy thoughts people.

MORE!

For the past six months or so, we've been trying like the dickens to teach Jackson some signs. Really basic signs like Mommy, Daddy, eat, more, and sister. It seemed that we weren't making any progress and was getting a little frustrating. Especially since it is clear that Jackson has plenty to say, he just can't quite communicate yet.

Well, this weekend while giving him one of his daily small taste of baby food we got "more"! And this evening it looked like we got an "eat" as well. And he's repeated the "more" sign several times. VERY VERY exciting! MORE!

RE-FOCUS!

This morning, we a very long and arduous appointment with Jack's Genetic Neurologist, Dr. R. Six months ago we had our first visit with Dr. R and his initial impression was that he was unsure if Jackson truly had any neurological issues. During our visit today Dr. R observed Jackson, his behavior, his movements, and his communication skills. And after some discussion Dr. R confirmed what we have suspected for some time now. It is apparent that Jackson does have some neurological problems. The degree to which these problems will affect his development is unknown. And what the diagnosis is of the collective problems is and will probably remain unknown for quite some time.

During our discussion, Dr. R made a really important point. We have to focus our efforts on supporting Jackson, through his therapy sessions, through interactive and repetetive play. We need to put less emphasis on the actual diagnosis or lack thereof. It is not as important from a treatment standpoint to find a name for his issues as it is to help improve Jackson's day to day functions. And while after the appointment Jackson did have another blood draw in order to further analyze his chromosomes, it is highly uncertain and somewhat irrelevant if that testing will shed some light on the core and/or cause of his neurological issues.

So we go on. Day to day, trying our best to work with Jack to help him grow, strengthen and progress.

Those D@#% Tubes!

Really. Those freaking tubes. "They make a remarkable difference", we were told..... Um yeah, not so much.

So this is the second ear infection which has so thoughtfully made its way down into his lungs. He is coughing now during sleep and requiring nebulizer treatments throughout the night. Yeah, what a difference.

The ENT checkup provided us with the following information: his hearing is borderline normal. If he continues to have ear infections (especially ones without obvious drainage) we need to let the ENT know as soon as possible.

Great. In the meanwhile, we wait. What a phenomenal idea, because we haven't tried that before.....

Don't mind me, I'm just ever so slightly tired, and oh so remotely disillusioned.....

Those Darn Tubes!

When Jason picked up the kids from daycare on Thursday, Jackson's teacher commented that he was running a low grade fever and was pretty cranky most of the day. Friday morning his fever spiked, so off to the pediatrician we went.

I explained to Dr. T (Dr. M was on vacation), that I just wanted him to check his ears as a precaution because I knew the fever could just be a viral thing. He peaked in Jack's ears and before I could even finish the sentence he was shaking his head. "Nope, it's not viral." In his right ear the tube was actually clogged. Unbelieveable. So more Omnicef and Ciprodex for Jackson.

I suspect that at his ENT check up tomorrow, the doctor might suggest removing his adenoids in order to help his drainage. In which case, my personal feelings are to just take his tonsils as well. Just clean him out - the less obstructions in his airway the better off he'll be. But hey, I'm not a doctor.....

Shiny new toys....

A couple of weeks ago we got a new MacBook. And while Ainsley has had a lot of fun with the built in camera feature, I suspect Jason's new toy has brought him much much joy. Just like a kid on Christmas morning......his eyes glazed over with glee and amazement.

Signed, sealed, delivered....

Thank Goodness for Dr. M and staff! After what I am sure was less than easy research, it was determined that we could go to another Hopkins lab for Jack's testing - and not pay anything out of pocket. (Insert Halleluiah Chorus here)

So today, on the coldest, windiest day of the month, we trekked downtown to the Hopkins Outpatient center and had Jack's blood drawn. Signed, sealed, delivered.

Now we wait.

tick.............tock............

No really. We wait. Go do something useful already. ; )

I must have been Hitler in another life....

I was once told by a very good friend of mine that I must have been Hitler in another life. That's the only way she could think to explain my less-than-great Karma. And on Friday, the story wasn't much different.

Don't get me wrong. I don't think my life is horrible, or that there aren't others much worse off than me. Through all this, the one thing I have definately learned is that there are always kids who are much more sick than Jack whose parents don't necessarily have the resources to help them.

My dear dear Cousin Rick (bless his heart) is often quoted as saying "I couldn't make this stuff up", and Friday's activity definately falls into that category. I left work early to pick up Jackson and take him to the Hopkins lab for a blood draw so they can run the genetic test for Angelman Syndrome. I had to stop at the pediatrician's office first to pick up the lab form which was no big deal since the lab was in the adjacent building. After saying our "hello"s to the girls at the front desk (who have come to know us well), we picked up the form and off we went. After arriving at the lab, I handed in the form and was immediately asked for the usual documentation. Insurance card, Hopkins orange plate (it's the equivalent of a frequent flyer card). I fumbled around and handed over my cards (never leave home without them). The guy at the front desk then informed me that they don't have a contract with my insurance company. He then suggested that unless I was willing to pay for this very expensive genetic testing out of pocket, that I might want to try going to Labcorp. So I shoved my cards back into my overstuffed bag and started out to the car.

As I was walking down the hallway to the lobby, I thought it might be best to call the Pediatrician's office to make sure I don't need another form. Nothing would be worse than going all the way to Labcorp, only to find out that they won't take the Hopkins form. I plucked my cell phone out of the bag and called (they're on speed dial). Sure enough I would need another form. No problem. I hadn't left the complex yet so I just walk back up there to pick it up.

Once back at the pediatrician's office, one of the other physicians (not our usual Pediatrician) came out to talk to me. Apparently it doesn't seem like, or at least no one could be sure, that Labcorp is actually capable of performing this test. And with that in mind, we might have to fight the insurance company to pay the lab they don't have a contract with. But for now, we were told to just "sit tight", and we would hear from our usual pediatrician on this topic on Monday. Again I thought, no problem. The test takes 2-3 weeks for results anyway, so what's another couple of days?

Except now, I've stewed about it all weekend. The Hurry-Up-and-Wait is about to Hurry-Up-and-Kill-Me. It seems never ending. Day after day, week after week, month after month. It isn't bad enough that the test takes so long for results but now I know it may take longer because now we have to duke it out with the insurance company. And who knows how long that will take?

Any romantic ideas I had (not that I had that many) about the medical industry have been completely obliterated. Nothing happens like it does on ER or Gray's Anatomy. There are few conditions/diseases/syndromes or whatever that can actually be diagnosed with a simple blood test/xray/ultrasound. Most diagnonsis are arrived at by exclusion, meaning that you start at the top of the list and cross off the ones that don't seem to apply to your situation. The problem with this is that it can take years and years to properly diagnose a person. Our Genetic Neurologist once warned me that it may take 10 years for us to put a name to Jackson's condition (assuming there is one). There is no test to tell us that he's absolutely fine and will catch up developmentally. And there's no test to tell us that he won't.

I do however have to say that most of our doctors have been outstanding. I mean really outstanding. Our Pediatrician has us on speed dial. She's given me her home and cell phone numbers and doesn't hesitate to book our appointments for 45 minutes as opposed to the usual 15 minutes allowed for most patients. And she is patient with me, oh so very very patient. Our Genetic Neurologist calls me almost immediately after reading one of my frenetic emails regarding my lastest suspicions. He's actually won an award for Outstanding Compassionate Care. And so far none of them have called me crazy (that I know of).

So until we get more "clues" to help solve the mystery that is Jackson, we just have to "sit tight". Right, bound and gagged. Anyone have some duct tape?

Bittersweet

I started this blog as more or less an outlet. A way to keep people informed who wanted to be informed and provide consistent information regarding Jackson's health. Yesterday one of my co-workers passed the link on to another co-worker who, after reading the postings noted great similarities between Jackson and his nephew who was just diagnosed with Angelman Syndrome.

With this information in mind, I quickly hopped online to check out the details of Angelman Syndrome. When I read the description of symptoms it seemed eerily too familiar. Not able to leave any stone unturned, I winged off an email to Dr. M and our Genetic Neurologist, Dr. R. Shortly afterward, there occurred a flurry of phone calls and much discussion.

During our discussion last night, the neurologist was careful to point a few things out; Firstly it is rare to diagnose a child below the age of three. Secondly, the symptoms he has are also markers for about 500 other neuro-genetic disorders. And thirdly, 10% of patients diagnosed with Angelman syndrome do not have the gap in Chromosome 15 which is what the genetic testing is meant to determine. So in theory, Jackson's results could be negative but he could still end up being diagnosed with Angelman syndrome, although it wouldn't likely happen until he was older.

So today, I am taking Jackson to the Hopkins lab for a blood draw to test for this rare neuro-genetic disorder. The results of which won't be available for several weeks. But by now, we've gotten pretty good at the Hurry-up-and-wait game.

As time goes on, there is more and more evidence that Jackson's developmental delays are not just a result of multiple hospitalizations. The doctors are now more convinced that there is almost definately a neurological disorder/syndrome which would account for his delays. But finding out which disorder/syndrome he has could take years.

So all in all, it is bittersweet. A possible answer to all our questions. And while it is certainly not the answer we were hoping for, we remind ourselves it could always be worse.


To learn more about Angelman Syndrome visit:
http://www.angelman.org/angel/index.php?id=75

http://en.wikipedia.org/wiki/Angelman_syndrome