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
Sunday, February 22, 2009
Friday, February 20, 2009
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
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
Follow this link: http://www.taylanbrooks.com/
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
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 (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
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
Wednesday, February 11, 2009
Plain ole Pictures
Here is a link to 4 "no frills" pictures of Evan that clearly display his anatomy.
http://picasaweb.google.com/egl2004/Evan#
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!
http://picasaweb.google.com/egl2004
Eric
http://picasaweb.google.com/egl2004/Evan#
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!
http://picasaweb.google.com/egl2004
Eric
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!
Eric
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!
Eric
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" (http://www.nowilaymedowntosleep.org). 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:
www.taylanbrooks.com, proofing section, scroll down to the password and type in 'lapatka'. Make sure your speakers are on!
Eric
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:
www.taylanbrooks.com, proofing section, scroll down to the password and type in 'lapatka'. Make sure your speakers are on!
Eric
Saturday, February 7, 2009
The Doctor's were Wrong!!!!!!!!!!!!!!!!!
WOW!
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. Really........it'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!
Eric
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. Really........it'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!
Eric
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