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The trick in life isn't getting what you want, it's wanting it after you get it.
Support the NKH International Family Network

In order to continue moving the NKH International Family Network forward, it is important that we raise funds to support our needs. If you or your relatives would like to donate some money - or even a gift card to an office supply store - you are more than welcome.

Perhaps you want to follow Karens example: She and her husband did a big party for Jennifer's 16th Birthday and the invitation read: in lieu of gifts, Jennifer asks that you make a donation to the NKH Family Network.

Checks and money orders can be made payable to:		NKH International Family Network c/o Judy Clifford 481 Canisteo St. Hornell, NY 14843 Please remember: All checks have to be made out to "International NKH Family Network" or Judy Clifford. Donations do NOT have to be in US funds only.

You also can support research on NKH

Read what Prof. Johan Van Hove wrote:

Since arriving in Denver in July 2003, the NKH laboratory has developed the analysis of the genes associated with NKH to be used for diagnosis. In addition to helping patients with the diagnosis, we hope these tests will also become useful in hopefully predicting the severity of the disorder in individual patients. This is essential for future clinical trials of new treatment options. Currently, our laboratory does not have separate funding for more involved testing. However, frequently these tests show that the patient has a new and not yet described genetic change (possible DNA mutation).
We are trying to develop ways in which we can identify what this genetic change means: whether it involves a new disease-causing genetic change or whether it is an innocent variant. Also, we would like to develop a mouse that has the NKH disease. This will give us a first tool to try out new treatment options prior to having to treat children.
We can accept your support for these scientific endeavours through the University of Colorado Foundation.

Checks can be made out to the CU Foundation with the mention 02-21975 Nonketotic hyperglycinemia fund, and sent to our administrative assistant:

Carrie John
UCHSC at Fitzsimons
Department of Pediatrics
Mail Stop 8313 PO Box 6511
Aurora, CO 80045.

Johan Van Hove, MD, PhD and Gunter Scharer, MD

Is anyone "ready " to have a baby?

The trick in life isn't getting what you want, it's wanting it after you get it.

Welcome to a whole new world of everything! I honestly have to say I wasn't prepared for this when @ 15 days of my sons new life my husband & I got , excuse me for lack of a better word , got a fucked up diagnosis & reason why we are in Pediatric Intensive Care Unit, watching our Bundle of Joy fight for his life.
To answer many of the most common questions people have asked me I had a very normal pregnancy vaginal, no complications; 41 weeks , although I really don't have experience in this area, because Tyler is my first kid.

I did almost everything right. From the day I thought about conception, went regularly to the OBGYN & took 2 months of birthing classes ( that did nothing for me) quit smoking/drinking ( for the most part, I did take a couple drags a couple of times & did drink white wine spritzers on rare occasions.) Took the prenatal vitamins, blah blah, swam almost every day, exercised....
So when I delivered my beautiful boy & all was well & what one would expect when thinking that you are going to have a healthy, happy & typically developed child, me & the families we're over-joyed.

That happiness lasted 72 hours, & then a fear like nothing anyone can even try to fathom began smothering us to the point that ~ you know when people are having a panic attack/heart attack~ that was me! Our concern was Tyler not waking up, he was breathing, but not waking up to nurse, we tried everything @ home from, warm/cold water on his tummy & face, loud music, vacuum, food processor, moving him around a lot, nothing was working.
It was intense, from noon to 9PM on Tyler's 3rd day of life~ from the pediatrician who couldn't figure out what was up, to the closest hospital to do some labs & attempt to do a septic work-up, they had him undressed for so long that he needed to be in a warming box, because his body temp was plummeting to around 90 degrees, he was poked several times in effort to get spinal fluid & he barely flinched for that, he was dehydrated, so all these pokes were unsuccessful; then transferring to another hospital via ambulance (the lousy bastards didn't let me ride in because they had my kid in this gigantic warming box w/ a ton of padding , they told me there wasn't any room)w/ an pediatric intensive care unit.
When we got to the hospital the staff there was asking me if I needed to go to the ER! I looked panic stricken~ I wonder why...., we followed the ambulance/ EMT Team & upon getting to the ER entrance the EMT's shouted for us to meet them on the Peds. ICU floor & took off running w/o US! All Cory & I could think about was " What in the hell is going on?" "Please GOD, someone or something help our boy!"

We were told they ran off so fast because Tyler had a couple of episodes in transit of not breathing for a few seconds ( apnea) , we were in the waiting room for a few minutes, when a nurse came in & gave us an update on what was taking place she was very nice, but VERY Vague, I asked if we could see Ty Ty, & she said the Dr. would come & talk to us . I asked when & she said soon, well 30 minutes later The Dr. came in ,Dr. Paulson, he looked as concerned as we were. He told us that Tyler is intubated ( life support) and in some kind of coma.
We went through the whole schpeel of questions, Drugs, Alcohol, abuse, STD'S, Pregnancy history, ....They did all these tests above, a second heel stick, & spinal tap for septic work ups, as well as the usual labs twice in 48 hours.

He was getting EEGs & blood draws everyday for 2 weeks, & weekly spinal taps But the hospital fucked that up to, spoiling samples that the Dr. collected or losing it! I was more than pissed. He was getting Cardiac Ultra Sounds, CT Scans, MRI's, & No diagnosis, but he was getting a lot of meds. which I again got all pissed off about, because he was getting anti-seizure meds. , when he had NO evidence of seizures! They gave him Phenobarbital w/o even telling me until the second dose the next day ( our 2ND day there!)

I so wanted to transfer to UCSF or Oakland Children's Hospital, but I had no ones support, even my own families. I was a mess, drinking coffee ALL the time, reading to Tyler, playing music to him, holding his hand, because that's the only thing the hospital let me do, besides have our own private room w/
bathroom, so I could do my sitz baths, we couldn't hold him for almost 2 weeks, because he was hooked up to so many machines. And between all this craziness, I had to pump breast milk so he could eat that via nasogastric tube.

I went from shock to zombie, just doing what I had to do with in a few days. Not sleeping for 2+ days straight, I never left the room, & told anyone~ Dr.'s included to stay away if they were negative.
This was done not soon enough, but on the same day an total LOSER ( neurologist) came in w/ a Chaplin & Do Not necessitate papers telling me & Cory that we needed to sign them & start making arrangements. I reached my boiling point with this guy, a complete psycho, talking to me about shit he doesn't even know about.
We did not even have a diagnosis & this fucker is talking this shit. We'd not been here a week & had hardly any labs back.

I was calm, but let him know in NO uncertain terms that he will never, I don't care what the hospital policy is, come in this room & even think about looking at my son or me or discussing my sons health EVER, & to leave immediately, that I didn't want to see his face or hear his voice again.
He & the Chaplin left, the neuro. guy never came back, the Chaplin came back the next day to extend apologies for barging into a situation that little was known about, we became friendly after that.

Of course 14 days into our stay, Tyler takes himself off the ventilator, I'll never forget it.
It was 5:30 AM the respiratory tech was coming in to suction or something, I was sitting next to Tyler, & I am going to change his diaper when she's done, well, I see that he is moving & the ventilator tube is also moving, Tyler starts moving his head lightly from side to side, I told the R/T that I think the tube is moving out of his mouth, but she was checking the monitors & the computer "said" that he was still on it, then alarms started going off, but his stats all looked good, so the nurse came in, Cory woke up, I wanted the Dr. to be paged. They got a radiologist to take an x ray to check for placement. Everything on the mechanical end said the tube was still in the right place, but I knew it was out, & my son was going to pull through this.
The Dr. came in ordered another x-ray, to his surprise it read that it was in place, he did an oral exam, & said it's out, take it out. I asked him if we could hold off on the MRI scheduled in a couple of hours, because I didn't want Tyler to have any anesthesia & he gave the okay, & also let us just "see what happens" he said.
Cory & I thought this is our miracle, Tyler had been tugging at the vent tube for a few days prior to the self extubation & the nurses were wrapping his hands with anything to form a mitten type security & giving him Valium to try & keep him from pulling the tube.
Luckily, Tyler is so strong & had his own plans!

The next evening is when we got all the test back & had a diagnosis of NKH/Non Ketotic Hyperglycinemia ( Glycine Encephalopathy)
Dr. Paulson, who is the best thing that hospital has, beside a 12 great R/T & RN.s gave us a 1 page summary on what this diagnosis means.
It was grim, & the stuff on the Internet wasn't any better.
So I went into , I am not gonna read that shit & my husband started doing the initial reading & back ground check.
He found the NKH International Parent Network page; bookmarked it for a rainy day for me, & just tried to I guess "compare"

Well, I wasn't concerned about comparing or the statistical stuff, I was just focused on watching my son, guarding him & making sure we all get out of this hospital.
I didn't want to hear ANY Negative thing. I was dead set on us just getting a miracle, people kept telling me to not get to pumped up.
I think part of me was in shock/denial that this is happening to YOU & pat of me was wanting to prove these assholes wrong;
another part was thinking about the 1st parent that approached us the night we 1st set foot in to the hospital
with kind words & Water. She & her husband had been here 1 week before us for their month old daughter for a routine kidney procedure, but she kept getting infections, they were from out of town ,but told us we were in the best place.

They lost their daughter @ 7 weeks old, & her mother was standing outside our room door when she was waiting for the Dr.'s (ALL the 5 attendings) & a radiologist & most all the nurses to try & figure out why she's now bleeding out of her eyeballs. I went out to the hall to talk to her, While her husband was trying to go in the room,( it was isolation room due to infections of unknown origin so it was very restricted the & the parents had traveled here in a camper parked in the hospital parking lot, that's where they slept.)
She was in such a scary place she couldn't even cry @ 1st, it was like she was having an outer body experience, . At first she appeared nervous/slightly worried, but as we saw more people entering the room & more things being ordered & her husband in an up roar, she lost it, & I just new that it wasn't good.
I was so messed up, I tried to block it out, her husband was asked to leave the room & he left yelling & she crying, They transported their daughter in the early AM hours.I didn't know what to say or do, I was just thinking that I hope this doesn't happen to my kid.

This I didn't even know what their "This" was, however the next morning the room remain empty, the nurses shift change & I couldn't get an answer about our friends.
A few hours later the Chaplin comes by & I ask him if their daughter, Blake made it. He shook his head no, I just lost it.

I'll never forget that feeling.

So, as I was saying I wasn't going to think about loosing my son,

We started him on the recommended metabolic meds .right away that evening & Tyler continued to show strength & improvement from that day forward.

We stayed another 2 weeks, a total of 1 month & the day we left the hospital I felt like I got out of prison or something, & it was more of a parolee feeling.

You know, just checking in for monitoring every 2-3 months for a while.
My main focus was finding the best Dr.'s for Tyler & only having positive people in our life. Anyone who didn't respect how we were taking all this & caring for our son, were asked to take a hike or keep their opinions to themselves.

True to I guess usual form, I wound up offending people because I had my own dreams & feelings that would only see it my way & I found that I was getting wounded to, I expected to have a little more support than I did.

It took us some time , about 6 months total to find a good medical team best suited for us, & we are comfortable right now.

Tyler continues to get physically stronger by the day, & stays healthy besides the G/tube surgery, He is not taking any anti-seizure medication right now, and he can go up to 7 days w/o any seizures.

Tyler's mutation has not been completely identified, & the DNA tests do not show a mutation in my GCS ( Glycine Cleavage System) nor does it show a deletion, however Tyler & I are still further going blood tissue tests & are getting labs sent to Colorado when they request for it.
This is a strange, dark & interesting disorder, I guess much like the ocean, just like that of the BRAIN.
The children w/ NKH are like the awesome creatures of the sea, but the environment of their bodies are unexplored, like much of the ocean.

My mom asked me while I was pregnant if I was ready, are we ever?

That's how I met my son in a , um , nut shelled email. And the 2 months of birthing class didn't help me prepare for that!



Kathryn
_________

Last SX ( Hopefully)

The trick in life isn't getting what you want, it's wanting it after you get it.

So it's the day that Tyler's PEG tube comes out & he goes in this morning for a Mic-Key button by BARD.
Yes, it's a DEHP Free button that we specifically requested. Everyone we know with the Mic-key says it's a lot easier than the PEG, which has been kinked off by a rubber band over the last month due to the tube being under pressure & it exploding open.....I won't get that graphic about the contents that have come out of the tube.
Needless to say, we are told that this will no longer be an issue for Tyler, me or Cory when the button comes in.
Best of all it's not permanent, meaning that if Tyler keeps gaining weight, doesn't show signs of reflux in an upper GI & over all has a good feeding evaluation, we may be able to not use the Mic-key & it does come out, the hole will close up eventually because it's like a piercing.

We are fortunate that this SX was done laproscopiclly by his GI Dr., instead of having the surgeons cut from the outside.

So prays are more than welcome that we can go home later in the day, & that Tyler adjusts well to this new system & that also he remain healthy & strong. : )

Glycine Encephalopathy

The trick in life isn't getting what you want, it's wanting it after you get it।

Well Sept. is almost over & Tyler is doing remarkably well with his peg tube, we will go into the hospital again with in the next month or 2 & have a Mic Key button placed in. Which is going to be a lot better for many things & I won't go into all the messy details on the PEG tube.

Tyler & Cory had a nice, happy & peaceful birthday. Tyler had NO seizures on his birthday & we actually went 6 days w/o : ) He has had some very mild ones only lasting 10 seconds or less, however, we'll go several or 6 days with out & he's been off the last mono therapy AED last week.

We will continue to keep him off those meds & plan to do more Cranio-Sacral therapy which I've paid for a class to learn & kinda try to practice now & we will continue to do acupressure massages, hopefully daily if I find time, micro current therapy ( like a tens machine, but more detailed & programmable to meet individuals needs) we also will keep doing acupuncture @ least once a month, Tyler loves it!
We also have been enjoying moxa/moxi combustion sticks for therapy enabling the GI tract & immune system to function as normally as possible without giving to much western medicine.

I am really liking the journey that has led me to find a balance of Eastern & Western medicine~I am still fine tuning & somewhere in all this we still have to be just parents.

Tyler is an extraordinary human being, who will lead not only those with Non Ketotic Hypergylicemia NKH) / Glycine Encephalopathy http://www.geneclinics.org/profiles/nkh/index.html
or special needs, but everyone who has been involved with all kinds of people to become braver, stronger, beat the odds, humble, happy & everything good.
He makes me want to be a better person, & teaches me to do the right thing even if I am the only one ( besides him) who agrees.
My job is to do what is best for him & anymore I just operate on intuition. He is my life & I will do what I would want care givers to do for me if I were in the same situation.

We have come a long way, but lots more to go...

Right On! Tyler turned 2 on Wednesday & we had a follow up with the GI Dr. & everything looks good :-)
Hopefully we can do some swimming in Great Gram heated pool in Livermore soon.

Tyler had a happy birthday & we plan on a short camping trip again within the next few weeks for a couple of days.

Cory & I are very lucky that our little man is so adaptable! He's getting his appetite back, eating a lot more @ a time & he's drinking from his sippy cups.

Before hospitalizations

This is a picture of Tyler in May right before his first 1 out of three hospitalizations in 2007.
He was healthy, although losing weight & the idiot pediatrician that we had seen since Tyler was born didn't show ANY signs of concern with weight loss.
I am talking about almost 1 pound per month until April when we took Tyler to Stanford for his Metabolic Dr. check up, they had their nutritionist come in & give us suggestions for additional caloric intake.
The G-Tube was not a consideration @ that point. Needless to say, when Tyler was hospitalized in May for non-stop seizures , shallow rapid Repirations; and upon arriving @ the ER no one had a clue why this was happening, we switched pediatricians , & started thinking that a G-tube may be a necessity . We were relieved to know of various options on how to place it, what types of "buttons" there were & most importantly, it is not permanent. He was hospitalized 2 weeks later w/o intubation & no seizures, just shallow rapid respiration. & severe lethargy. Labs drawn showed low kidney function, calcium & potassium. Thia was also the case 2 weeks prior. By the time the Dr.'s ordered his metabolic labs 3 all together all three came back fine. WTF! Of course they would he didn't get meds for 72 hours when they did the labs.
Plasma Amino acids norm, CSF norm, Sodium Benzoate levels norm. carnitine norm.

We suspected @ this time Sodium Benzoate toxicity & I had to fight some of the Dr.'s on why this should have been run the day we were admitted in June, but because I am not a Dr. they all thought I was crazy.

Structure???

Okay, I am a virgin to posting, so everything is scattered around, it's an abstract glimpse of what really goes on in my head. HA! These absolutely darling pictures are in NO particular order.

Well, it's now or never.........

Our son is hitting a mile stone soon, he'll be 2 Years Old in September, just a couple of days after his daddy's birthday.

We are starting fall off with a Gasteric Tube A.K.A PEG TUBE for Tyler, & it will allow him freedom with his adorable face & mommy of having to put a new tube down his throat, literally every few weeks. YEA!!!!!!!!!!!!

Things should be back to normal hopefully in a couple months or less.

We did get to do some swimming @ great grandmas, her pool is a lot cleaner than ours!
Camping in the mountains off of highway 50 for a few days, where we rowed our little boat around Loon Lake, Saw parts of the Short Tuttle meter shower while bats swooped over our heads during the nights & we were also graced with the presence of an immature bald eagle while rowing. Tried to fish a little, but no luck & did some off roading ( 4 wheel drive baby!)
Of course the Kermit dog came with us & served us with excellent security, especially for Tyler :-)

We also checked out the State Fair a couple of times. Tyler even rode a Roller Coaster!!!! WOOO HOOO!!!!

We've been trying as much water & out door activity before this surgery. It's been a blast.
Tyler is so adaptable to N E THING & just about everything.

Got a new Neurologist Dr. Sherr UCSF, seems very good so far. Everyone is usually under some degree of scrutiny, eh?

Til next time chow.