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 much......now I'm embarrassed.

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

Eric

CHH - The Facts

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

http://www.nemours.org/hospital/de/aidhc/service/skeletal/disorder/hypoplasia.html

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.

Eric

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:

http://newsroom.ucla.edu/portal/ucla/ucla-scientists-identify-gene-86795.aspx

Eric

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:

http://www.howlifeismeasured.blogspot.com/

Eric

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