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.

Eric

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!

Eric

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.

Eric

Longevity

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 (http://www.rth.org/bbf). 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.

Eric

Oxygen

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!

Eric

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: http://www.taylanbrooks.com/LaPatka/TBP_LaPatka.html. 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: http://picasaweb.google.com/egl2004/Evan#.

Enjoy!

Eric

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 (http://www.ggc.org). Apparently his is a famous Doctor in the Skeletal Dysplasia community. His name is Dr. Jurgen Spranger (http://www.esdn.org). 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!

Eric