Genetics update

Remember back on January 3 how Manny went to the Geneticist?  Quick summary version - they did a lot of looking at him, asking me a lot of questions and scratching their heads.  From all the paperwork, the MRI and the presumed diagnosis, he shouldn't be cognitively on level. 

But he is. 

While there, they also did several genetic blood tests. 

Today we got the initial results.  It was the Genetic Counselor and not the Geneticist so she couldn't interpret them, just relay them. 

So here is what I have. 

• Long Chain Fatty Acid:  normal test result.  (From what I can find, this was a test primarily to test for adrenoleukodystrophy and that is negative.)
• CK Muscle Enzyme:  Elevated levels.  The normal range is under 204 and his is 1042.  This means there is some type of muscle wasting, distress or disease.  It can point in quite a few directions.  
• Genetics Microarray:  ??  This test is fairly new and it determines if a person has a deletion of genes or a duplication of genes.  He doesn't have either.  So that's great.  But there were notes that showed some abnormalities ... this is the part the counselor wasn't allowed to share due to interpretation. 

I don't see the geneticist again until March 3. 

In the meantime, the Neurologist ordered 2 tests.  Ironically, one is the Long Chain Fatty Acid.  I will call tomorrow and let him know that one was done.  But the second is for a type of leukodystrophy called Krabbe's.  From the symptoms he has, this doesn't fit in my opinion but who knows. 

Once that test gets back, they will likely order a muscle biopsy.  I'm not looking forward to that for him ... but it might be the only way to get a definitive answer. 

So while I wait, I research.  (I'm good at that.)  And I have come across some things that make sense.  They fit into the realm of Congenital Myopathies.  There are several versions and I have come across 2 that make the most sense.  I'm still working to see if those could cause the strange MRI readings.  If so, I'm pretty sure I have figured this out.  If not, I'm back to square one. 

Thankfully I have a brother in law who is a Doctor of Radiology so I might just ask him. 

But the real story?  The baby turned 19 months yesterday.  He is the chattiest baby I've ever met.  He flirts with everyone he sees.  He captures hearts just by sitting there, before he does anything.  He is loving life.  Learning daily.  Making lots of wonderful memories.  He loves to smile.  He deposits joy. 

GI update ... "smarter" than the docs but not smart enough

Friday I called the GI and said that the ER doc called Dr. X and he said Manny needed to be seen that day. I was willing to see any of the docs besides the one we have been dealing with. Ironically, the only doc available was this Doc who has ignored THREE of our emergencies. I have had to figure EVERYTHING out by myself. We'll call him Dr. K.


So I buck up and say I'll take the appointment with Dr. K. Before I left, I wrote out the history of the 3 emergencies that we'd had with the baby. Two of them involved no food being able to go into his gtube (and he can't eat by mouth so this is a true emergency). I wrote out what I had done (including calling the office, etc.) and how it got resolved. (Never did their office call me back ... I got it all done by mother's ingenuity.)

As I sat in the office, I was sweating. I hate confrontation SO much. I decided that we needed Manny treated first, then if it wasn't handled to my satisfaction, I would give him the letter and a copy to the front desk to send to the head doc.

Dr. K came in with a medical student. He asked what was going on and I told him about the bleeding, the pain, the retching, etc. He asked a few questions and decided it was ulceration of his stomach lining. He upped his dosage of Prevacid (acid reflux meds). And he wanted to put him on this ulcer med called Carafate.

I asked him what I should do in the event of another emergency. And he was not understanding that I was saying I couldn't get through to HIM. (I think he's a little blonde.) But he told me to be a squeaky wheel. He told me that the times I described were true emergencies and that I needed to be persistent until I got it fixed. (sigh)

He changed out Manny's gtube to a newer one. The old one was in for 7 months (usually last about 6). It was a little low on fluid so it might have been moving around and causing irritation.

As I got home, I spent the time wrapping my brain around it all. And I realized. DUH. I know what's causing the ulcerations. And I felt so stupid!

Remember how back in July how he got horrible cellulitis and went septic and they gave him a 50/50 chance of surviving? Well ... I thought at the time that he must be allergic to his gtube. So I started putting a little gauze strip under his tube. Problem solved. I even checked it one day and sure enough, when the gauze was gone, a rash immediately showed up. And I put all this in the back of my head a "problem solved".

When this blood happened the other day, I didn't connect the dots. And then it hit me, he's allergic on the INSIDE of his stomach too! Duh. I guess the stomach acids just protect it some so it's not so bad.

Then I remembered back how this has happened 2 times before. The last 2 times there was no fresh blood, it was what I thought was old milk. Brownish milk. But I realized, it was milk with blood clots! And with both of those episodes, he would scream for nights and days (about 3-4) before it would have this gush and then he would have relief.

This has been going on about every 3 months since he got the button. The reason it was fresh blood to go with the old blood was since the button was loose, it moved more and caused more irritation.

I feel horrible!! He's been in pain this whole time. I wrote a group of people with gtubes and one lady says when she had the wrong button, it caused skin breakdown on the skin but the pain inside was WAY WORSE! My poor baby.

So ... tomorrow, I'm going to talk to my pediatrician and see what we can do about this.

As I diapered him today, I noticed a foul smell coming from his gtube site. And he winces if his tube area is touched at all.

So I feel great that I figured this out before the doctors. But I feel stupid that it took me this long.

Precious Little Feet

Manny (like most babies) has the most precious little feet. 

His are extra special though as they are quite unique. 

There's this little way they turn in and almost upside down.  Makes them quite amazing to look at. 

Makes it almost impossible to stand on. 

His ankles are also both getting contractures.  He's a very, very hypotonic baby (floppy, feels like he has no bones almost).  Except  in his ankles.  Those are TIGHT!  In fact, it's so tight the heel touches the back of the calf.  It's not painful for now because he does nothing weight bearing.  But eventually, they get even tighter and become painful. 

This is why we opted to do the serial casting and now the braces. 

Here's photographic history of the stages. 

Precious little feet (before casting)

feet in casts

the cast that fell off

day brace and shoe

night brace

special sock just before the day brace

his first time ever wearing real shoes

Now as a result of all that above, the following two pictures have been made possible.  I was crying.  The physical therapist was misty eyed.  We realized the gravity of the moment, the first time in his life he was standing. 

Now that he has his feet going the right way and the proper equiment ... who knows what is possible!

Getting ready

My boy is standing!

As he stood there, weight suspended, he didn't know what to do with his legs.  It's all new to him.  I don't think he's ever felt his leg muscles in that way before.  So after a couple minutes of the therapist holding his legs in position and bouncing him up and down, he started playing with his knee muscles.  He was making this strange face like, "This feels weird." 

He only did this for about 10 minutes.  But they're hoping that with time and practice, he'll learn to use his leg muscles just like he did his neck and his arms.  With time, he could stand?  Climb stairs? Walk?  Who knows. 

But nothing is impossible with God.  I dare to dream he will dance one day.  Here on Earth and not just in Heaven. 

I have a dream too

Most of you know I live in Florida.  But probably very few know that I was born in Mississippi.  My parents were both born and raised 100 miles from each other in Mississippi.

In 1963 (6 years before I was born), Dr. Martin Luther King, Jr. delivered a famous speech.  Below are just a few lines of it.

I say to you today, my friends, so even though we face the difficulties of today and tomorrow, I still have a dream. It is a dream deeply rooted in the American dream.


I have a dream that one day this nation will rise up and live out the true meaning of its creed: "We hold these truths to be self-evident: that all men are created equal."

I have a dream that one day on the red hills of Georgia the sons of former slaves and the sons of former slave owners will be able to sit down together at the table of brotherhood.

I have a dream that one day even the state of Mississippi, a state sweltering with the heat of injustice, sweltering with the heat of oppression, will be transformed into an oasis of freedom and justice.

I have a dream that my four little children will one day live in a nation where they will not be judged by the color of their skin but by the content of their character.

I have a dream today.

As I heard that today, I was particularly struck by the numerous references to Mississippi.  And yet just under 50 years later, this Mississippi raised girl has the family I have.  Not only do we sit at the table of brotherhood, we sit at the table of "family."  I can have the family I do in part because of men like Dr. King. There were others. 

But today is as good a day as any to stop and see our history and to see we took a fork in the road opportunity.  And as a result, I can have Jacob and Kaley in my family. 

His dream was for his 4 little kids to be judged by character, not skin color.  And here almost 50 years later, I still want the same thing for my 6 little kids.  We have 4 races in our family.  And I think the world is getting better.  But racism still exists. 

And as we enter the world of wheelchairs and facial differences, I find the world can still sometimes be a cruel place.  The prejudices still exist.  For me, I find the ones towards disabilities  more prevalent than the ones of race. 

So as the mother of 6 kids with special needs, I have a dream too.  A dream that all kids would be treated equal.  That their skin color, their "look" and their abilites are not the first thing people notice.  I dream for people to see past the drool, the wheelchair and the cleft lip to their smile, their sunshine, their soul. 

I dream that one day my kids and all those like them across the world will be able to say, "Thank God Almighty I'm free at last."  Free to do my best.  Free to live to my full potential.  Free to go a day without being made fun of.  Free to just be a kid.  For people to see ME and not that I'm different.

Until that day comes, I will do my best to give my kids thick skin and a great sense of humor.  I will arm them with cute comebacks and winning personalities.  I will encourage them to use their words of kindness, even when people are cruel.  And mostly I will teach them how to treat all peoples of the world with dignity and respect. 

I have a dream that I am not alone in this endeavor. 

Jacob's ER trip

You know how the story goes.  Luke (7)  goes to school and gets a germ.  Germ invades body and he gets very ill.  105 plus fever with very stiff neck (couldn't put chin to chest).  Doctor got alarmed and sent us to the ER.  Tests say it's the Flu basically.  A bad one, but not meningitis (which is what they were concerned about).  Medicines.  Better.

Repeat with Kaley (11).  Repeat with Dan (hubby).  Beth says the mantra over and over that she is not allowed to get sick so she ignores the symptoms and keeps going.

Meanwhile, we sent Jacob (12) over to my Mom's house.  Partly because it's not fun in a sick house.  But also so that we could possibly avoid him getting it.  It would be bad on his kidneys.  And he's on a new immunosuppressant med right now so it makes him more vulnerable.

Friday at 8pm, I was thrilled.  Everyone was sleeping.  The baby.  The hubby.  The kids.  I was just about to settle in with a book or bed.  Call from Mom.  Jacob hit 105.2 and it was climbing.  All the things they were doing weren't helping it come down.  She only has aspirin in the house and can't give him that due to Reye's Syndrome possibility.

I called the pediatrician to see if we could avoid the ER but she thought due to the kidney issue, he must go.

The ER was very full.  Triage got him back within about 15 minutes though just due to his very high fever.  Once back there, they took his blood pressure and it was 99/37.  The triage nurse let out a gasp, asked if he was dizzy (Jacob said yes).  He called to the back for the need for a bed NOW.  Got a wheelchair for him and wheeled him back.  We bypassed all the other waiting people.

They took a history, etc.  I gave him Tylenol when I got him there and it took his fever to 103.1 but since he cannot have ibuprofen ... that's all they could do for him medicine wise.  I'd read that with FSGS (kidney condition) that he is not allowed to have it.  Nephrologist emphasized it with me too.

They hung a bag of fluids 1 liter (1000 cc's/ml).  Took many blood tests, etc.  All it showed was Flu A and slight dehydration.  But after the whole liter, there was no improvement in his fever or his condition. Blood pressure was still very low, chills, pain, dizzy, he was basically "out of it".  Their hands were tied.

At one point we were even discussing him being admitted.  At that point he started crying.  They left and I asked what was going on and he said he wanted to get out of there.  He hated the hospital and wanted to go back to my mom's house and sleep.  So I told him the only way we could get out of there is if his fever goes down, he starts to feel better and his blood pressure goes up.  We prayed.  I told him to visualize those things happening.

Within a few minutes, he perked up.  I know, sounds too good to be true.  But it's absolutely the way this happened.  He was still very sick but he took control over his fears and his brain told his body how to act.   His blood pressure was 99/60.  They decided to give him one more liter and let him go home.

So at 12:30 his fluid were gone.  He was able to get his next dose of Tylenol.  (4 hours had passed).  They did one final temp and a final blood pressure just for the record.  But this time it wasn't our regular nurse who'd been great all night.  It was a new person.  Clearly her job was to clear the room.  Period.   Fine with me, we wanted to go home.

Problem?  His blood pressure (laying down still, after 20 ounces to drink by mouth and 2 liters by vein) was 101/33.  No, that's not a type-o.  Right before this measurement, he said he was feeling dizzy again. He started looking really sick again.  The nurse didn't even notice the number.  We pointed it out.  Let's just say she wasn't a nice lady about any of it.

And I was torn.  I want to go home.  She's wanting to send us home.  But is it safe to send him home with that kind of number??  I looked the hallway for our nurse but he was involved in a trauma in the other hallway so not available.

My gut was saying something wasn't right.  This nurse was a ... uh, er ... well, let's just say I cannot use the word that comes to mind.  So in pure disgust, she starts telling me off.  She yells at us how he's fine.  It's just instrumentation (mind you it's the same blood pressure machine all night.)  "And besides, he's been discharged!'  (Translation:  I don't have time for you.)  We insisted on one more blood pressure measurement and she (not happy about it) did it.  But first, she jerked him to a seated position ... 101/41. Works for me.  Close enough.  Let's go home.

He went home to my Mom's house (she can baby him better since he's the only sickie there).  And all he wants to do is sleep anyway.  She also has a blood pressure cuff so we can monitor him there.

I did some quick research and have no clue still why his blood pressure was still so low after all those fluids.  Sure it can drop if you're dehydrated but after all those fluids, it shouldn't still be low.  Guess I'll be calling my pediatrician on Monday to see what she thinks.

His kidney condition is usually associated with High blood pressure.  So very strange.

Today, his blood pressure is actually elevated quite a bit.  So go figure.  But afterall, they forced 2 liters of sodium water down his veins very quickly.  The balancing act is that we're always trying to monitor his sodium levels and his fluid intake as to not stress the kidneys.  We knew we'd have to watch for edema.  Even the ER doc said that this was a delicate balancing act .. to give fluids but not too much.

I took him Tylenol and Tamiflu.  He's still almost 104.1 temp.

Remember the old commercial "Calgon ...take me away!"?  Let's just say I understand.

Oh, and lest you forget, we still have 2 more kids who haven't had this.  aaaaaaaaaaugh!

An unexpected gift

Megan White of Life for Kids (adoption agency) is the one who matched us with Manny.  We have had some pretty "intense" moments together.  (Like she had to sign one of the DNR's for Manny while we had him but before he was legally adopted.)  Recently she asked me to give a 5 minute speech about Manny at a fundraising dinner for them.  Well of course!  I am completely honored. 

In going through and making the powerpoint presentation today, there was a picture I was wanting that she had (I know she had it because I took it on her camera). 

Instead of just sending me that picture, she sent some others as well.  Ones I didn't have! 

Manny came to the hospital just after he turned 8 months old.  He came to live with us on the day he turned 9 months.  So these are from that time period in between.  

What a lovie!  For those of you who have met Manny, you know what a special little guy he is.  Just how he worms his way into your heart and soul.  But for those of you who only know him through pictures and stories, I tell you I can't do him justice.  But I'll keep trying. 

Thanks Megan.  What an unexpected gift!!  

Living a small life

The Parable of the Talents in Matthew 25 has been on my heart a lot lately.


At the risk of sounding like I'm bragging, I think God has given me a lot of talents.  And I dabble in each of them.


I don't think I outright bury all of my talents/giftings.  But I KNOW I am not using them to His full glory.


Now in my defense, I DO have a lot on my plate.  I do have 6 kids, 2 that are "quite ill".  I have a husband and a part time job.  I'm over 40 and notice the definite slow down of how far I can push my body before I must rest.


So I have some pretty good excuses.


And I know I'm doing a lot just to take care of these kids ... the biggest and best ministry that I could ever do in a lifetime.


But ...


I know to the core of my being that I'm not giving it my all.  I Know that there's more impact I should be having.


It reminds me of a line from "You've Got Mail".  Meg Ryan's character Kathleen Kelly is asking the question:

Sometimes I wonder about my life. I lead a small life. Well, not small, but circumscribed. And sometimes I wonder, do I do it because I like it, or because I haven't been brave?

And it hit me.  One day I will meet my Maker.  I don't picture some harsh God just waiting to pounce on me and show me all the ways I screwed up.  


But I do think (Based on Matthew 25) that He will ask what I did with what He gave me.  And quite honestly, if I died today, I think I would be quite embarrassed by the lack of productivity.  


I have a book written and illustrated, just waiting to be taken to the printer.  I have a book sitting in my office just waiting to be sold.  I have a book written waiting to be illustrated.  I have 3 books part way written on my computer.  I have 2 CD's recorded waiting to be mastered and marketed.  I have the innerworkings of the orphanage in China just waiting for funding and the okey-dokey.  I have 15 years plus of experience giving motivational speeches and TONS of ideas just churning in my heart to get out and I haven't made one call or written one email to let anyone know I'm available.  


etc etc etc.  


And like I said ... I have some pretty good excuses (most of them are sleeping right now as I type this).  


The truth is that I lead a pretty small life ... and I feel that I'm not supposed to.  I'm not talking about fame or fortune or glitz and glamour.  I'm talking about impact.


I think God has given me interesting insights on a number of subjects.  He has navigated my journey through some very unique circumstances.  And at the risk of sounding big-headed, I think He's given me stuff I'm supposed to share with people, not keep it to myself.


As I go through life, I'm an observer.  I notice things that many people miss.  I put things together that other people don't realize go together.  I analyze things.  I'm truly present in every moment of every day. I truly EXPERIENCE life - all it's ups and downs.  All of it.  And from all that, I've gleaned things that I think I'm supposed to give back.  And not just to my 6 kids.


So how do I stop living this small life?


Afterall, Jesus Christ came and died for my sins.  But He also died for my testimony.  He bought it with His blood.  My story is not "mine".  It's His.  And it's hit me recently that I'm not doing a very good job of telling His story.  I'm not OK with that.


I don't know the solution to this yet.  But I'm working on it.

Ooodles and Ooodles of fun

Last Wednesday, Manny stopped peeing.  He would scream in pain every time he would try.  Friday afternoon he started peeing again.  But those 48 hours in between were TORTURE for all of us.  Yes I talked to the surgeon, his office, his replacement, his nurse, our home health nurse, our pediatrician, etc.  No one could seem to help us in the meantime.  "Warm compresses and tylenol"  that was the only advice. 

Today we went for his Urology surgery follow up and yippee.  It's all healing nicely.  Going as planned.  In fact he said, "Have a nice life" which was his way of saying we wouldn't be needing any follow up.  Now or in the future.  So that is awesome news. 

Sunday, Luke (7) and Kaley (11) woke up with sore necks.  I can't think of anything physical they did that could cause it but that's the most likely thought.  But Luke was also acting sick.  The family went to the park and he didn't want to run and play, just sit near me.  He didn't want to eat.  Just generally yucky.  By Sunday night, he had a huge fever and the neck was a lot more stiff, headache and photophobia.  (Very dangerous signs I know.)

We decided to put him in our room for the night and just watch him very closely.  Monday morning he was still burning up (104.1 while ON tylenol/motrin alternating).  Pediatrician was sick herself and she said with those symptoms she would send him right on to the ER.  So off to the ER for us. 

Kind of crazy ... they know me there.  Mostly because of Manny.  (He's quite unforgettable.)  I wheeled Manny in his wheelchair and of course everyone thought it was for him.  Manny was thrilled it wasn't!

Luke had chest xray, many blood tests, a strep test and a flu test.  They also gave him more tylenol and more motrin along with iv fluids.  By the time we left it was only 102.1  Results?  Influenza A and Strep.  On top of it, it's horrible allergy season here and he has horrible allergies. 

Meanwhile, we kept Kaley home from school due to her sore neck.  We figured that she would soon follow the same path of Luke to high fever.  But thankfully, it never happened! 

Today, Luke is still running a pretty high fever 102.1 and is generally miserable.  Sleeping a lot.  Hungry but not able to really eat when it comes down to it. 

Mostly I've been afraid that Manny would get this.  Then I remembered he had the flu shot.  HOPEFULLY this will cover him. 

But wouldn't you know it?  Just now he had some tummy symptoms (and I'll leave it at that).  And is running a low grade fever.  (sigh)

So I know you're all jealous of me and my glamorous life!  And the ooodles and ooodles of fun we're having around here.

And just in case you're wondering if this fun might be over ... we have an IEP meeting tomorrow for Kaley.  The fun just NEVER ends around here! :) 

Blessings everyone.

More milestones

What a grand day! (Written 12/23 but somehow didn't get published ... glad I found this today so you could all see it anyway.) 

Kids are out of school.  Weather is perfect.  Why not go to Busch Gardens, Tampa?  We have annual passes so it won't even cost us anything but a few drinks.  (We pack and bring out lunch and snacks.)

 

The kids have gotten big enough to actually enjoy riding the rides.  I sit with Manny and watch them.  (Amazing to watch them grow up!)

But today, we got to put Manny on a ride!  Due to his brace, he was strong enough to sit up, unassisted.  We put him on the train.  (He LOVES trains... says 'Choo Choo' when he sees one.)  Kaley sat beside him, just in case.  And he LOVED it!

That is ... until the ride ended.  He cried.   Real tears.

We got him off, back in line.  Back on train.  Again ... WHEEE!  Train stopped.  CRY.

By the third time, he figured it out and didn't cry when it stopped.

Then it was time for the carousel.  You should have seen his eyes widen as the horse went up and down.  Love, loved it!

Then it was off to the kid section.  I was so excited because there were so many rides he was going to get to do!  Finally!! After all these times of just watching, now he could join in since he is strong enough.

But the ride operators said no.

Why?

Because he wasn't wearing shoes.

Seriously?

Uh ... Shoes don't fit on his feet.  (One of the reasons for the necessary serial casting, in fact, he SHOULD have been in casts but his feet were too swollen last time so they gave him 3 days off). 
I asked if disabled children had the same rules as everyone else?  Yes. 
He doesn't even OWN shoes.  Too bad.

I was disgusted.  Furious, I sat down.  The baby was fine.  He had no clue I was going to try to put him on a ride so he wasn't missing out.  I was livid.  Not at those employees, they were just following company policy.  But angry at the company policy.

I started thinking of all the kids I know who wouldn't be able to ride those rides due to those stupid rules.  I know of a little girl who just had her foot amputated.  She couldn't ride.  Or other kids with club feet.  Etc.

I was drafting the letter in my head to corporate.

Dan (who had been on big kid rides with the older ones) saw my face and came to see what was going on (truthfully, probably checking it wasn't HIM in the doghouse! LOL).  I told him.

A little later, he went to a different ride operator and explained the situation, that I was going to write management, etc.  And he told Dan that there was actually a waiver at Guest Relations we could get for a disabled child.  Well GREAT!  I started feeling better knowing that Busch Gardens, did indeed, have a clue in their heads.  (Those 3 ride operators I talked to need to have some training though as I point blank asked if there was a way a handicapped child could get a waiver and they all said no.)

So ... this guy let Manny ride one more ride.  But Dan jumped on before I could get his back brace on.  And wouldn't you know it?

He rode it without the help of the brace!!!  He didn't need it.  He sat so proudly.  He giggled.  I giggled.   I even caught the ride operator smiling at Manny's cuteness.

Can't believe how many milestones this baby is hitting.  He's amazing.  Our God is HUGE!

It's not lost on me

I'm a realist.  
With optimistic tendencies.
And sometimes those worlds collide.

So while some of you read my blog and think, "I could never do that".  And some of you wonder how the heck we're surviving.  And some ponder how I have enough patience.  Some consider what you would do in my position.

I also know some wonder if I'm actually out of touch with reality.  I know *I* would wonder that if I read my blog.  You see, I only put certain things in here and not other things.  Like I choose to focus on the positive (for the most part).  I choose to be the optimist in the way I present information.

But just so you know I'm actually quite sane ... Here are some things that are not lost on me.

Yesterday, I got a wheelchair for my 18 month old son.  And while I think he's pretty darned cute in it.  I'm thrilled that he's happy to sit in it.  I'm overjoyed that he has better support for our long walks and long doctor visits.

It's also not lost on me that my baby just got a wheelchair.  And just to type that sentence makes me burst into tears.  They flow down my face as I type.  My baby can't walk.  He may never walk.  And I grieve.  I hurt for him.  And yes I keep hoping, keep praying, keep the faith up that he will.  The truth is ... he can't right now.  I see other little boys near his age running, jumping, climbing, riding trikes and he has to sit in his stupid wheelchair and watch.  And the saddest part to me is that he doesn't even know how much he's missing out on.  I know that's also merciful, but it's sad.  We take the other kids to the park and they go down the slide.  Him?  He cheers for them.

Yesterday we also got the MRI back.  And the blog I wrote about it was pointing out the faith and the hope that we have.  I pointed out that God isn't done with Manny's healing and so forth.  But it's not lost on me that right now, the doctors are all saying he has a terminal, end stage disease that could take him out at any minute.  In fact, they're shocked he's still alive and still progressing.  That's a testament to God's love and favor.  But for now, there is still a death sentence pronounced over this little boy.  And that is never far from my mind.

Yesterday, we also had a home health nurse come by.  Her main goal is to see if he is comfortable, getting all he needs, monitor his overall health, pain management, etc.  She is from hospice.  It is NOT lost on me what that means.  You don't get hospice unless they think you're terminal and end stage.  So while this nurse and I have nice little chats about all Manny can do this week he couldn't do last week, it's not lost on me of who she is.  That they still think we need her there.

It's not lost on me that if God doesn't intervene DAILY to keep him alive and thriving, the Story of Manny is short.  And I'm selfish.  I want him here with ME!  I want to be the one to receive his daily, "Hi there" and the special way he pats me and says "Mama".

So realize ... when I type those things of faith and happiness and "look at all the cool things" ... just under the surface, this is all here too.  I just don't talk about it.   But it's not lost on me.

Repeat MRI results and other news

Manny had an MRI back in May 2010 and it was "Scary" as one doc put it.  From that MRI, he was diagnosed with "End Stage Leukodystrophy, unspecified type".  The neurologist set up for him to receive hospice care and told us what the end of his life would look like.  He told us to prepare that we wouldn't have him very long. 

GAP stands for "God Answers Prayers"

Most of this story is written in the blog (starting from that point and going forward). 

But apparently, God works in mysterious ways.  He began to heal Manny.  We have no clue if his actual BRAIN was improving.  But we know that Manny was improving.  He started to move more than just his eyes.  He started moving his head, fingers, hands, toes, wrists, arms, legs, etc.  Little by little, his body was "waking up", from the outside in. 

He learned to hold his head up.  He sat up unassisted.  He started talking.  2-3 word sentences even!  Cognitively, he showed he is "all there".  He is truly present behind those beautiful eyes. 

Every doctor was shocked.  Speechless.  I would tell them we believe in a big God who is still doing miracles today.  They often agreed. 

It was decided (by that original neurologist) that we should do a repeat MRI.  So we did.  As I type this, I don't have the answers yet.   But I will continue this post tomorrow and tell the rest of the story. 


THE RESULTS:

Today I picked up the MRI and Preliminary Report.  The final one is supposed to include a comparison from the first to the second and I had HOPED this would include it too.  But quick story ... the MRI findings are still consistent with a Leukodystrophy, end stage.  So now that means what?  They're going to still have to do some more digging to find out the type, etc.  But it also means that God is going to get glory that even though his MRI shows he should be regressing, he is progressing. 

So while it's not the news we had hoped for, we are in faith this story is far from over. 

IN OTHER NEWS: 

Today was a big day for other reasons as well. 

1)  He got new foot braces.  I'll do a blog soon to show the 3 types of casts/braces he has or had.  He is not a fan and they are leaving bad marks so we have to get them adjusted.  But this is a "step" in the right direction for being able to walk some day.

2)  He got his new wheelchair!  His first ever.  (And I'm hoping he can walk well before the need for another one.  He LOVES it.  Got the look of part stroller, part wheelchair.  We'll have to work on getting it in and out of the van ... (it's heavy) and has no cool accessories yet (Like I'll miss my cup holder and key holder until I find a suitable replacement).  But it's going to be wonderful for his head, neck, trunk support.  And he has a cool tray with it so he can play, write, etc.  A final benefit is that people will stop arguing with me about him needing his stroller/wheelchair.  (Like at Busch Gardens, you have to leave your stroller outside for shows but wheelchairs are allowed in.  Even when he's hooked up to oxygen, a feeding pump, etc, they argue with me.  That will be over.) 

3)  We need prayer for one more thing.  It's related to last week's surgery and he has a complication.  He's having a LOT of pain urinating and therefore he is refusing to void which causes more problems and more pain.  He basically stopped peeing on Wednesday.  I've talked to the Urologist office 3 times and I even went in today.  They saw how full his bladder was on Ultrasound so they cath'ed him.  (Not pleasant either.)  He still has a few more days of healing on the problem.  So in the meantime, the only time he stops screaming is when he is asleep.  So needless to say, we're all exhausted.  We're trying to keep him comfy with pain meds but it's not helping. 

Happy weekend everyone!

1st genetics visit

I know I'm doing things a bit out of order but on Monday we took Manny to the Genetics department at University of South Florida.  We saw the head of the Department.  The Neurologists have been scratching their heads so they figured it was time to get a different way of coming at his diagnosis/prognosis. 

The genetics counselor came in and needed biological family history.  Of which I have basically NONE.  And what I do have is third hand information, given to us via a translator.  It's also given by a very young girl who was very scared (of being deported).  So it's sketchy at best.  So family history is truly not helpful. 

In came in some doctors.  It's a teaching hospital (which I love).  So Dr. Emilio, the guy further along in his medical program is doing the physical exam out loud for the lady doctor who is not as far along in her program.  I had to keep several giggles in as I seemed to know a LOT more about a lot of things than she did.  (Guess that's what 6 kids with special needs will do for you.) 

One really cool thing is that Dr. Emilio is from Guatemala (just like Manny's birthparents).  And so he was able to shed some light on his particular "look".  Several doctors have suggested he be tested for Down Syndrome because of the look of his eyes (even though he doesn't have the rest of the facial features).  And Dr. Emilio said that Manny is Mayan.  That they have these distinct eyes and that he could tell when he walked in that Manny was from a particular region of Guatemala. 

The rest of the exam was pretty unremarkable.  They found a few things that were "abnormal".  All things we've noted before.  Except he commented that his left nipple is further from center than the right.  I'd never noticed that before. 

Eventually they left and consulted with Dr. Ranells (Head of the Department).  They poured over the notes I'd given them, the history I told them, the doctor records we'd faxed them.  Eventually Dr. R. came in with the team.  She was very intrigued.  She did her own physical exam. 

She said she'd already been on the phone with a fellow Geneticist.  They were scratching their heads too. 

Why?  Because due to his MRI, his blood tests, everything ... this baby should be regressing.  He's not.  He should be completely mentally deficient.  He's not.  He should be losing skills (like swallowing, breathing, etc.) but he's not (he's stronger now than ever like he hasn't needed oxygen in MONTHS). 

She asked for clarification about his cognitive skills and I told her my background and my mother's background and that we assessed him at LEAST at 100 (average) IQ.  (We suspect higher.)  I got him to do some of his "tricks".  But the one that caught her attention was how Manny was flirting with the young female doctor.  Never the guy.  Never the older lady.  Always her.  Dr. R. pointed that out and the young doc blushed.  (Pretty cute and funny.) 

She said, "What do his neurologists say about him having normal cognitive ability?"  I told her they use the word Miraculous!  They can't explain it. 

She said that this was a particularly intriguing case.  She's never seen it.  She had some thoughts and ran a few blood tests but she was most interested in the repeat MRI (Thursday we're doing that).  And the muscle biopsy (not scheduled yet). 

"So the good news is that he's progressing and is cognitively on level."  she said.  I added, "Even with that strange MRI you saw."  she says, "Not strange MRI, SCARY MRI." 

And there's the bottom line.  From all the tests, this baby should not be surviving.  And yet he is.  He's thriving.  Thank You Jesus! 

We're so anxious to see MRI part 2.  Thursday morning at 9:30 the test is done.  I'm hoping to have results by Friday morning or it will be a long weekend wondering.  I'm so anxious to see if God healed just the symptoms or healed the brain itself.  Either way it should make for an interesting day.

I don't want to ...

I'm being a whiny baby right now, metaphorically pitching a little hissy fit.  If you were to see me, you'd not notice anything.  It's only internally. 

I'm struggling. 

With what? 

OK ... here goes. 

I don't WANT  to have two kids who have life threatening conditions.  I want God to come along and just snap His finger and Manny and Jacob be completely healed.  Instantly.  And yes, I know He will use this for His glory.  Yes I know He is in charge and that He will do this in His perfect timing.  And yes I trust Him to supply the strength and favor and direction to get through all this too. 

But I am feeling overwhelmed and not sure I'm up for more fight.  (Thus my fit I'm pitching internally.) 

We have been praying DAILY for Jacob's complete healing.  We know God is completely able, willing, etc.  We have seen Him do much bigger than this.  So we are in faith for the miraculous. 

Today I took him to the Nephrologist.  He's worse.  Not a lot worse, but not better and cerainly not completely healed. 

So I sat completly numb as the doctor explained my choices of immunosuppresants for Jacob.  She dutifully went over the side effects and risks and benefits.  I sat nodding like I was with her but I wasn't. 

My heart isn't in this. 

I don't WANT to shove toxic drugs down my 12 year old's throat.  (Ironically, one of the major side effects of these drugs is kidney damage ... uh ... anyone else see the problem with THAT?)  I don't want to have to choose between Toxic Drug 1 or Toxic Drug 2.

I don't WANT to decide what alternative medicines I might consider. 

I don't WANT to do a genetic blood test to see exactly which type this is.  If it's one, she's talking months until dialysis and less than a year to transplant. 

I don't WANT to think about things like dialysis and transplants. 

I don't WANT to wait for the genetic test results and worry if Kaley also has this disease. 

I don't WANT to test his urine weekly to see if it's still 4000 (when it should be under 30). 

I don't WANT to watch my son get weaker and weaker.  Be able to walk only a few steps before he is fatigued.  To be sleepy and exhausted all the time.  To be worried about what is wrong with him. 

I WANT my son healed.  I WANT my son whole.

Our newest addition ... and a bit about Kaley

Most of you reading this blog come to read about Manny.  Today is about his big sister and his newest little friend. 

History ...

11/11/99 a little girl was born.  By March 2000 she lived with us.  We named her Kaley which means "black goddess with powerful energy" or "crowned princess". 

She's always been tiny.  This picture is from near her first birthday. 

And she's always had spunk.

 
On her 5th birthday, we went to the local animal shelter and got her a cat.  It was love at first site.  (Perhaps you've seen some of the pictures of this tolerant cat.  One of the most famous pictures is of him with clothes, sitting up reading a Bible.)  We call her the "animal whisperer" as there is no animal she can't handle or train.  (More about that another time.)  She's tiny!  At age 11, she weighs 53 pounds.  But trust me, she can handle herself.  And she just has a sense about animals.  Quite the gift. 
 
She's been asking for another cat.  We still have the first one, she just wants more.  We finally decided to get her one for her 11th birthday in November.  But we were leaving for a trip so how about when we get back from the trip?  Well, one thing led to another and there were numerous delays.  EVERY time we would be headed to get a cat, something would happen. 
 
She got quite discouraged/frustrated.  One day she even sadly said, "There IS no cat, is there?"  On Wednesday of this week, that was to be the day.  Wouldn't you know it?  Another delay.  (Let's just say it's hard to drive while puking.)  So we set the date for Friday, December 31. 
 
As we drove I told her, we will pray we get the right cat.  In fact, I have the feeling that if we'd gone on any other day, we wouldn't have found the right cat.  Maybe we would have picked a sick one or a mean one or .... etc. 
 
We found her. Her assigned name was "shortee" ... uh ... not the right name for our cat.


Introducing ...  Shadow Purr-ee-fa Ninja Shady Gore (no, not joking)

 She's African American, I mean Black.  Pretty greenish eyes.  Weighs 2.2 pounds.  Was born 11/3 (so close to Kaley's birthday ... she loves that because every other family member has a spring or summer birthdate, including our other cat). 

 She's very, very playful.  Already well adjusted to the new surroundings.  She even likes Jericho.  Him? Not so much. 

 
And guess what?  Guess when she became available for adoption?  That's right.  The morning while we were driving  the shelter.  One day earlier and we would have missed her.  Sure, we would have found another cat, but not her. 
 
Kaley's faith grew. 
 
So all is well in the world with me.