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: