Friday, July 10, 2009

Totally Off Topic

Okay, I'm stuck on the picture feature of blogger. It's great. I just got done loading all of our pictures from our recent trip to Colorado. If you ever get a chance to travel near Aspen you need to take the time to hike at the Maroon Bells wilderness area. It's one of the most beautiful places I have ever seen. There are a few trails you can take. Be sure to take the hike to crater lake. It's incredible. This shot was from the lower lake, about 100 yards from the parking lot. Crater lake is up behind us and is just as amazing, if not better. Be sure to talk LOUDLY as you hike. As we were coming back down from the lake we ran into a couple you had just seen a black bear about 30 yards behind them standing on it's back legs. We stumbled upon them about 1 minute after this encounter and the lady was so shaken she could not even talk. Needless to say, this did not give us the warm fuzzies and we gave it a few minutes before continuing to walk down!

Enjoy the pic.

Alrighty, let the rice cereal begin!!!! Feeding Evan is more like a fight in the ring. You have to juke and jive and wait for the right second for his mouth to be open to shove the spoon in . Even then, your lucky if that "wild card" tongue doesn't push it out all over himself. Ever since starting this endeavor I have felt a compulsion to buy a power washer. Is that bad? He's still very happy and a pretty easy going guy. Growing lot's and packing on the pounds.

Monday, June 22, 2009

You CAN'T Resist This!!!!!!!

Okay......okay, I know. I've been TERRIBLE about making posts. It's been 2 MONTHS! Sorry, life get's crazy busy. I wanted to post something just to remind people that I am still keeping this blog active. This is a pretty recent picture. I think it's his best one so far. He smiles like that ALL the time. He's the most content baby I have ever seen. We just took a vacation out to Colorado and he was perfect in the car. No fuss at all. Well, one fuss.....bad gas I think. We ALL fuss about that right? No? You don't? Uh oh......I've said too I'm embarrassed.

Enjoy the picture! I promise to be better about making posts.


Monday, April 6, 2009

CHH - The Facts

If you want to know more details about Cartilage Hair Hypoplasia then you might as well hear it from the experts:

This hospital is the premier center for people with dwarfism. The head orthopedic Doctor there is the Director for the medical advisory board for Little People of America (LPA). If you have watched any shows on dwarfism (mostly on TLC) then you have probably seen the Doctors at this Hospital. Almost all of these shows feature this hospital at some point.


PS - If you want to get really technical then the Doctors that know the most about CHH are in Finland. However, most forms of CHH in Finland are exactly the same so unless you have that exact form you would probably not benefit from seeing them. When I say form I mean, variation. The symptoms from CHH can vary greatly from case to case. I'm not quite sure of anyone really knows why at this point. Possibly different parts of the RMRP gene are mutated?

They Found the Gene!!!

The gene for SRPS (short rib polydactyly syndrome) has been found! This is the lethal diagnosis Erin and I received for Evan. All though we ended up not having this condition it is a very happy day as we are friends with numerous families that have been effected. Knowing the gene will help in numerous ways. However, they think multiple gene's cause SRPS so the hunt continues. Fantastic progress though.

Read more here:


Saturday, April 4, 2009

How Life is Measured

I wish all lethal diagnoses were wrong. I wish medicine could just fix the problem. I wish people did not have to do through such pain and torture. I wish everyone who was ever told the same thing we were told have had their stories end the same way ours did. I know, from speaking to many people, that this is not the case. Many people's stories end how they were told they would. It's sad and unfair and I wish I could change that.

However, there ARE people who have had the exact same experience we did. It's nice to know their journey did not end with such a heartbreaking conclusion. It's also sad that know that these lethal diagnosis are given to people who do not have a lethal situation. The diagnosis is given with such certainty. I'm not against certainty. I'm just against it when it's not warranted. Diagnosis by ultrasound it VERY difficult. It's just hard to get a good snapshot of whats going on. I almost feel that every diagnosis given based solely on viewing ultrasound pictures should be required to come with a disclaimer that there is a fairly decent chance they are wrong.

Here's another example of why I think that disclaimer should be required:


Tuesday, March 31, 2009

Lack of Apology

Do medical schools teach Doctors that apologizing is a sign of weakness? Is it too much to ask such a highly educated person to display a bit of remorse? Are they somehow above this type of behavior? From our experience with Evan I would have to say the answer to this question is yes.

I apologize in my job all the time. If a client is upset, I’m quick to apologize. It’s a simple act. It doesn’t fix or change anything. However, it does make a difference. The kicker here is, my job never involves whether someone lives or dies. NEVER. The issues at hand are much less significant.

Erin and I have yet to receive a single apology from any Doctor we visited. If they would have told us there was a CHANCE Evan’s condition could be non-lethal I would be much less surprised by a lack of apology. This simple acknowledgement would have changed the way we did EVERYTHING. We would not have induced. We would have had a sliver of hope. We may have even appreciated and enjoyed Erin’s pregnancy a little bit. However, we were told with 100% certainty that Evan’s condition was lethal. We had no hope. We had no joy. We did not embrace the pregnancy at all. It was something we had to avoid talking with about strangers in the grocery store. When they would get a big smile on their face and ask the due date, the sex, Erin would quickly answer with one word and move on. When we were leaving one of our many Doctors appointments prior to Evan’s birth we happened to get on an elevator with a young couple taking home their first child. They had the camcorder going and everything. If we had some hope I could have looked at that situation with SOME positivity. However, while we were in that confined space there was awkward tension as we did not look at the child or the parents. We did not say one word. I had to fight back the urge to turn to them and say “I’d be happy for you but my child is going to suffocate to death in my arms minutes after birth”. I wanted to grab the camcorder and smash it into pieces right in front of them. What a horrible reaction to what is probably the happiest day of these peoples life. This is what a diagnosis like the one we received does to you. It kills you. It changes you. I places hatred in your heart. Maybe other people handle things differently. They find strength in their religion perhaps. However, I’m willing to bet, if they are being honest with themselves, they feel exactly the same way I did. It’s just not very socially acceptable to admit it. After what we went through, I could give a damn about what’s socially acceptable. An apology would be very acceptable.

I’m certain that the Doctors are elated that they were wrong….and that Evan is doing well. I know they are happy to hear it and they wish all of their cases would end like this. However, this case almost did not end like this. We induced early with the plan to provide only ‘comfort care’ to Evan while he passed. He was not going to be whisked off to the NICU if he was struggling. We expected him to struggle…..a lot. If he would have had a curable problem he probably still would have passed. We ALMOST induced him 2 months early. However, Evan was breach. When I reflect on the way everything played out I feel like I had been rolling around in a minefield with a blindfold on. When we realized Evan would make it I feel like I was standing on the other side of the minefield and someone just had removed my blindfold. It’s an indescribable feeling.

I’m sure if I tried to pin the Doctors down to liability the blame game would be in full force. I vaguely breached the subject shortly after Evan’s birth and the nurse for our perinatologist/OB mentioned that they did not make the diagnosis, it was Dr. X, the specialist we were working with, that gave us the diagnosis. While this may be true we still saw our perinatologist every week and he agreed we should induce. He was even willing to induce 2 months early, even though Evan was breach. I’d say that’s quite some confidence in the lethal diagnosis. I don’t care who originally gave it. If he had doubts I don’t think he would have been so willing to induce….no matter what. If we tried to pin down our specialist she would mention that she is a research Doctor and was just giving us her opinion. However, we all know the truth. She is the most experienced and EVERYONE was looking to her for the answers and what to do next. I tried to get second opinions. The organizations I reached out to immediately referred me to this same specialist we were already working with. After those efforts I found no reason to question her “opinion”. If we just exercise some common sense it’s easy to see that the responsibility falls squarely on her shoulders. What should we have done differently? Ignore the leading specialist in the field and make our own decisions…based on, our denial? Please. It doesn’t matter that we can’t prove liability in a court of law. We all know the way this played out. A simple statement that she was not SURE it was lethal would have been great. She may have never stated in writing that she was 100% sure Evan’s condition was lethal. However, agreeing that inducing 2 months early (or even earlier), even if Evan was breach, solidly affirms her certainty in her diagnosis. Would you ever forcefully induce a healthy child 2 months early?

After all this. I fail to see how hard it would be to simply apologize to us. We deserve it.


Monday, March 30, 2009

The Emergency Room

All things considered, the root of the problem is daycare. Where else are so many germs spread with such ruthless efficiency? An objective observer could reasonably conclude that the entire purpose for a daycare is to infect children, and consequently their families, with viruses they never would have had the pleasure of experiencing otherwise. It’s AWESOME…..

Emma came home with a bug about 3 to 4 weeks ago. Then, I got it and am on the tail end of a two week sickness. Now, Evan, along with my mother, are starting to act up. How do I know he’s sick, you may ask? It all started at 4 a.m. Saturday morning. Yes, 4 am. LOVE IT! I finished feeding him and was trying to help him stop coughing when he decided to vomit all over me, himself, the rocking Chair, his blanket and the carpet. Oh, did I mention it was 4 am?

He just gets into such coughing fits that he ends up throwing up. It happened again around 8 am. We called the Doctor and they told us to go to the Emergency Room at Children Hospital since they would need to take x-rays of his chest to look for pneumonia, which for now, he does not have. After a 3 hour stay we ended up leaving with a nebulizer and albuteral (spelling???). We did his first breathing treatment in the ER and it really got him coughing…..a lot! He was much worse than before. However, once that subsided he seemed to do better. We now do the treatment every 4-5 hours. It seems to help to some degree although he is still in pretty rough shape. The treatment dilates his bronchial tubes which causes him to cough more to get the junk out. Basically, it’s a “They get worse before they get better” kind of thing.

First thing Monday morning we went to his Pediatrician for a follow up. Evan was still in about the same condition and even threw up for the Doctor and everything. How exciting. He did not have a fever and tested negative for RSV. He was a borderline case for checking into the hospital as we were concerned for his breathing and hydration. We already have oxygen for him at home so if he looks like he’s struggling we can put him on that. Other than that we are just watching him hour by hour and trying to help him keep the pedialite down so we don’t have to go to the hospital for an IV. We have given up on formula for the time being.

Ah, the joys of child rearing. You know those lists of to-do’s you make for the weekend? Yeah, I’m not sure I’ve checked one thing off all year. My life pretty much consists of going to work and trying to hold together the pieces at home. Is it bad when going to work feels like a relief?

I’ll post again when his condition changes. Let’s hope for the best!


Wednesday, March 25, 2009

Cartilage Hair Hypoplasia - Confirmed

I spoke with the geneticist we are working with locally as they got the results back from the genetic testing. It turns out that Evan has 2 different mutations on the RMRP gene. They said that one mutation is similar to others they have seen and one is not similar to what they have documented. We should know more as time goes on as they will most likely want to test us now to see if we each contributed one of the mutations, etc.

Basically, we will need to work with our Hematologist closely to determine if his immune system is compromised at all. It’s looking like it may be a little bit, we just are not sure how much. He has a little bug now so the testing we can do is limited at this time. There is a spectrum of problems and effects that mutations in the RMRP can cause….or not cause. Each case is different and not every child has every problem/effect. Obviously it looks like Evan is not affected by the thin, sparse hair aspect of this condition. Hopefully, the immune system problems will be mild as well. It is common the not give children with CHH live vaccinations. The risk is just too high that they will develop problems as a result of those vaccinations. Chicken pox can pose a great risk as well. We’ll have to keep his daycare and school aware of this issue and keep an eye out for chicken pox in other children.

All things considered, I think things are going pretty well. He’s eating well and sleeping well. He has decent head control and has rolled from his stomach to his back numerous times already. He seems to be breathing well. He is still on oxygen at night at this time. Breathing problems do not seem to be in any of the literature on CHH, which is somewhat comforting.

I’ll post more as I learn more.


Sunday, February 22, 2009


Today Evan is officially one month old. I never thought I would ever say that. I can not put into words how happy it makes me to be able to say that. Prior to his birth it was not something I could even fathom. We were hoping for 15 minutes. Actually, we were simply hoping we would get to see our son alive before he passed. If we made eye contact that would be fabulous.

Now, he's been with us for an entire month. We look into his eye's everyday. We have gotten to know him. His quirks. His personality. We know that he is a much more easygoing baby than our 2 and a half year old, Emma, ever was. He hardly cries....mostly when he is hungry. He doesn't fuss much at all. For the most part he likes his bath. He just lays back and almost goes limp he is so relaxed in the warm water. He LOVES to have his head massaged. Getting the opportunity to get to know these things about Evan is easily the most enjoyable thing I have ever done in my life. You truly do not appreciate things to their full extent until you realize that they can be ripped away from you in seconds. I have learned to slow down and really try to appreciate the small things. Because.....they aren't that small. The small things are really what it's all about.

This week I received a call on my cell phone while at work. It was an out of state number so I quickly answered. On the other end of the line was very sweet lady named Lee who is 70 years young. She was calling because she had seen a post I made online. She was excited to talk to me because she also has CHH (cartilage hair hypoplasia) and it's so rare that she doesn't often get the chance to speak to someone (or in this case, the parent of someone) who also has CHH. Lee said she has the same bowed femurs that Evan has. She has not had many health problems at all and was quick to point out that she has had a very long, fulfilling and happy life. She is married and has numerous children with many grandchildren. She has 4 siblings who are average height. She was the only child affected by her parents propensity to pass this on 25% of the time. We spent about 25 minutes on the phone and I'm sure we'll speak again. We were already talking about seeing eachother at the LPA (Little People of America) conference in 2010. It is being held in Nashville, TN that year.

It was great to speak with Lee for many reasons. One of the main ones was that it speaks volumes to Evans potential longevity. Billy Barty was an actor and also started the Little People of America organization back in 1957. He also had CHH and was 76 years old when he passed away from heart failure. Here is a link to his foundation ( It's great to have real world examples of Evan's potential longevity.

I never thought I'd be writing about longevity and Evan in the same message. It means the world to me to be able to do it and share it here.


Friday, February 20, 2009


Tonight is another first.

Our pulmanologist (spelling???) decided to have Evan use supplemental oxygen while he sleeps. Evan's oxygenation level was below 90% about 5% of the time when he had his sleep test (normal is around 97-98%). That's not too bad. It's also consistent with a premature baby. I think this is something he will grow out of. If not, that's okay too. Tonight is the first time he has used it. It's going well so far.

He has a large machine on the floor next to his crib. It is plugged into the wall and can create oxygen indefinitely. He also has a narrow tank about 4 feet tall in the corner of his room. They said this is in case the power goes out. Geez, they're DEDICATED! What happened to the casual "just to be safe" attitude? What if there's a tornado? Will they send in the military for us? :-)
He also has a small tank in a shoulder strap that we can bring with us if we go out, etc. I don't think we really need that at this point but I guess it's all or nothing when a Doctors tells them to get us "set up" with oxygen.

We'll keep you posted!


Evan's Story - Video Slideshow

The photographer that we worked with through the Now I Lay Me Down to Sleep Foundation put together a comprehensive DVD slide show with commentary and new music. It's fantastic.

Follow this link: It will ask you to run some software. It is completely safe and it loads very quickly. The video is about 11 minutes long and just perfect.

I had problems trying to view this video while using firefox as my Internet browser (and on a Mac). If you have normal Internet Explorer that would probably work much better for you.

Also, I try to keep updated photo's here:



Tuesday, February 17, 2009

Diagnosis Please......

So, I feel like I should be holding a hat on the street corner begging for a diagnosis. It's just odd to be the person (or, the parent of a person) who Doctors can't diagnose. It's definitely weird to be the statistic.

I spoke with our geneticist who mentioned that our specialist at Cedar Sinai, along with one of her colleagues (I quickly googled him and I think he might be the director.....not 100% sure on that though) feel pretty strongly that Evan has Cartilage Hair Hypoplasia (CHH). They spoke with a Doctor from Germany that was visiting the Greenwood Genetic Center in South Carolina ( Apparently his is a famous Doctor in the Skeletal Dysplasia community. His name is Dr. Jurgen Spranger ( Remember my previous post were I commented on putting stickers on a USA map for each state that I have consulted with a Doctor? Well, I guess I need a world map now. Who would have ever guessed that we would need to go International to diagnose my son?!?!?

They know they gene for CHH. It is an autosomal recessive disorder (meaning we would have a 25% chance of this happening every pregnancy). It also means we each inherited this gene from one of our parents, and they from one of theirs, etc. We just were lucky enough to be the two people who both had the mutation and decided to get married and have kids! I read somewhere that the chance of getting CHH is something like 1 in 1,150,000. I guess that is a tricky stat because if you both have the gene the chances are 1 in 4. lol! I bit more likely! The gene is called the RMRP gene and the mutation is found on chromosome 9. I do not know how much the test is at this point but I'm sure it's cheap and covered 100% by insurance.......right? RIGHT?!?!?!? I can't wait for the insurance battles to start. I can use all my free time for that.

Fun Fact: This disorder is more common in the Amish community. Hmmmm, how do I get a hold of Amish people to talk about this condition. I guess I'll have to wait on that.

Another factor that kind of made things click with this diagnosis is that anemia is common. Just yesterday we found out Evan is anemic. One thing this condition can cause is a week immune syndrome. The cases vary greatly so hopefully Evan will not have too much of a problem with that.

We've had two Doctors appointments this week so far and we have another one tomorrow. Erin and Evan also spent last night at the hospital so Evan could have a sleep test done. He screamed the whole time and neither of them got much sleep. That was a tough one. Today he had an MRI to check for fluid build up and some problem at the base of his skull where the spine starts (common with some forms of dwarfism). He got a clean bill of health in both areas so that's GREAT!

More to come!


Wednesday, February 11, 2009

Plain ole Pictures

Here is a link to 4 "no frills" pictures of Evan that clearly display his anatomy.

I took these to attach to e-mails I sent to Doctors. I have now been in contact with Doctors in Los Angeles, Seattle, Columbus, OH, New England, Texas, Madison, WI and South Carolina. Maybe I'll get one of those maps of the USA retiree's put on the back of their campers to display where they have traveled. They put a sticker on the states they have been. I'll put it up in my cube at work and put a sticker in every state I have spoken to a Doctor in!

Here is a link of random family pictures just for the fun of it. Enjoy!


The Tests Start

This past Monday night (2/9) we had our first experience with a nurse coming to our home and hooking wires up to our little hero. I thought to myself, we better get used to this. It's the first experience in having strange and unfamiliar things happen to our child.

It was a simple blood oxygen test. He had a heart rate monitor strapped to his chest and a monitor on his foot. I think there was a total of 4 thin wires coming out of the bottom of his sleep sack. He wore it all night to see how well he was breathing. It gives a percentage. 100% is perfect and most people exchange oxygen close to that. We probably sit between 97% to 99%.

Evan came out with an average of 93 to 94. Not bad! However, the pediatrician was concerned that he spent a total of 24 minutes under 90%. He wore it for a total of 10 hours. At this point, I see that as a win. It could have been MUCH worse. I think a lot of that 24 minutes, possibly all of it, was when he was eating. When I was feeding him at 2am (that's right......what were YOU doing at 2am?!?!?) I was watching the monitor and I saw number in the high 80's, maybe even an 85. It concerned me a little but they said they can have a harder time while eating. Considering the fact that he is still premature I'm not disappointed with the results. Our pediatrician is going to speak with another Doctor to see if they want to do anything (ie: further testing, oxygen at night, etc). We'll let you know when we do!


Monday, February 9, 2009

The Definition of Priceless

Erin and I had a photographer with us for the delivery. She is affiliated with the nation wide organization "Now I Lay Me Down to Sleep" ( They are a network of photographers that volunteer their time to provide parents with fantastic photos of their children's very short life. It's an amazing organization.

Our photographer put together a slideshow for us online. It is set to beautiful music and we are blown away with her work. For us, it's priceless. View it here:, proofing section, scroll down to the password and type in 'lapatka'. Make sure your speakers are on!


Saturday, February 7, 2009

The Doctor's were Wrong!!!!!!!!!!!!!!!!!


Okay, I'm not sure how to convey all of this. If I had to wrap it all up in one word it would be INSANE!

Evan was born on Thursday (1/22/09) at 9:52pm. We expected him to live about 15 minutes and suffocate in our arms. Yes, suffocate. Brutal. If I could do anything to take away other families from having to go through something like that I would. I can't imagine anything worse. It's evil and horrible and I wish I could do something. If anyone out there is going through, has gone through, or is going to go through that feel free to call me, anytime, on my cell phone (402-960-2554). Honestly, just call and scream at me if you need to. I understand and I did the same thing. Call me and just cry until you are so exhausted you need to go to sleep.'s normal and expected and I feel for you. I'm not sure if a male has ever cried as much as I have. I do not feel bad for it nor less manly. It's just being honest with yourself. It's healthy. Do it.

Evan looked much better than I had ever expected. In fact....he looked damn near normal! I did not dwell on it and kept bracing for the worst. He just kept plugging away and eventually we HAD to go to sleep out of sheer exhaustion. I fully expected to wake up at some point in the middle of the night and find him having passed. I was okay with it and was simply enjoying our extended visit with him. I told him (out loud) that if he needed to go I was okay with it and I loved him. I knew we would see him later on after he had passed. We'd just have to wait a little bit. That's fine. I'd wait for eternity.

Friday morning (okay, morning in the hospital and morning anywhere else is different.....the hospital is a time vacuum) rolled around and found Evan screaming for food! What?!?!?!?! He was supposed to be weak and dying. Obviously, something was off. I STILL thought the Doctors were correct and we were just VERY lucky. I mean, leading specialists know what they're talking about......right? ;-) (I had to get my jab in somewhere.) We headed off to get a bajillion.....yeah, a bajillion xrays taken. Childrens hospital is next door to our Hospital so we took a walkway over the street their. I carried Evan in my arms the entire time. We went to the xray room and they told me it could take a while and we can't go in. I told them that's not okay with me. Honestly, I'm not sure the entire military of the USA could have pulled him out of my arms at that point. We then spoke to the lady actually doing the xrays and she said it should take 10-15 minutes.....but we still could not go in. I'm not sure why they had a chair and see through shield in their then. When is a situation more time sensitive then this?!?!?!? I had no choice. I handed Evan over to her and completely lost it. Erin held strong but I couldn't. I just couldn't. I sat outside the room and cried. Just cried. They finished within 10 minutes! We rushed back in to clothe him and hold him. The crying stopped.

We went back to the room and at some point it started to hit us that maybe the Doctors were wrong. The biggest tip was that they started acting differently. The way you would act when you were expecting one thing and got something totally different and had no explanation. Yep, a true WTF from the Doctors. That night (Friday, about 24 hours after Evans birth) a geneticist came in and spent 3.5 hours with us. That ended up with him telling us that he thought Evan had achondroplasia (ie: typical dwarfism.......think "Little People, Big World"). Yep! Our little dude was going to live for a long time and just be little. Talk about cloud nine! Achondroplaisa has since been ruled out from a DNA test. However, he is still doing really well and we are continuing to hunt for a diagnosis. Our specialist in Los Angeles says that he most closely resembles Junes syndrome but it's not a perfect fit. Jeunes syndrome can vary drastically. He could be in for a lifetime of surgeries until he stops growing. They can surgically expand his rib cage but they have to go in every 6 months and adjust for growth. I spoke with a mother from Denver and her 8 year old son with Jeunes has been through 16 surgeries. He's very active and doing well. He carries oxygen with him but still manages to lead a normal life. We are still not sure if Evan's case will lead down this path. If it does, we will be right by his side fighting with him. Nothing will stop me from doing everything possible for him. At this point we are still without a diagnosis and I am actively reaching out to countless individuals in hopes of getting closer to an accurate diagnosis. The bottom line is that we just keep focusing on the next step. One step at a time. He is doing very well now and we'll do everything we can to keep it that way.

There is much more to tell. I will make posts more often now as it seems like the best way to keep numerous people up to date on our situation.

Thanks for checking in!


Monday, January 19, 2009

The Pill Box

This evening I was in the bathroom looking for something and I stopped dead in my tracks when I looked at my pill box/organizer. I take a few prescriptions and every Sunday I cut up pills and fill in my weekly "pill organizer". Yes, I realize that this is something elderly people do. However, I am fortunate enough to start this experience in my late twenties. That means I should be good at it by the time I'm elderly, right? :-)

This past Sunday (yesterday) I filled in my pills. However, it was different this time. I usually only take half of my weekday pills to work with me (I take my medication twice a day). This week, I took half of my weekday pills along with all of Fridays (leaving an entire days slot with no pills in it). We are going into the hospital on Thursday and will be there all day Friday, at the least. The reality just hit me square in the face. I was physically looking at something where it starts with my son being unborn and it ends with him having passed away. All within a short enough time frame to be displayed through a simple pill organizer.

I've never had something so simple hit me in such a profound way.