Are you an Olympic CFer?

I am a really big fan of professional sports. Yes, I know they are overpaid, egotistical, etc. but I have always enjoyed watching.  I mainly watch the popular pro sports football, basketball, and baseball. But every few years I get the chance to see the “other” sports.

I really do not follow the Olympics very much but when I get a chance to watch them I will.  These Olympic athletes are truly more than representing their country. Just think of how many countless hours, days, months, years they have given up of their life to train and compete for an event. To me its just unimaginable of how dedicated these men and women are.

So over the weekend I watched a few of the games. Swimming, gymnastics, and diving were the games I caught. I know this is a hot item today with the women’s gymnastics but how could you not feel bad for USA Jordyn Wieber. Thanks to the new rule the defending world champion will not get to compete in the all around competition.  Only the top two gymnasts  from each team (country) can move on to the all around. There will be 24 gymnasts that move on but there will be one that should have advanced on as I believe she had a top 5 score out of all gymnasts. Enough said the top 24 gymnasts in the world should move on and that’s it!! Forget the idea of two from each team. 

When I think of the Olympics I think of all the dedication, heart, and countless hours of sacrifice these athletes have given up. In many ways I feel this same way about CF.  If we want to be healthy and around on this planet it takes dedication, heart, and countless hours of sacrifice on our part and on our spouse/family as well.  Think about how many treatments you have done, how long you have been connected to that machine that shakes your lungs to no end, how many doctor’s appointments that you attend, how many pills you pop a day, how many inhaled antibiotics you have done, hopefully how often you exercise, the list goes on and on. But what I am getting at is that just like these Olympic athletes we have dedicated an extreme amount of time to keeping ourselves healthy. I am sure that we all go through this where we say I would rather be doing something else instead of being connected to this vest for 20 minutes or going to another doctor’s appointment.  I think this theme occurs in the Olympic athletes mind’s as well but they have one goal and that is to win the GOLD.  In mind at least, my GOLD medal is to be here and around for my family and to see a cure to this disease. The path to my GOLD is through sacrifice and dedication!!!  

So with this………….Are you an Olympic CFer?

My CF Diagnosis

My CF diagnosis is not the typical diagnosis! Most people who are diagnosed with CF are diagnosed at birth or relatively shortly after. For me, my diagnosis took years to discover. When I was a little guy I would get sick often the bronchitis like coughs that would never go away.  I would have nights of coughing endlessly that would prevent me from going to school!! As for my weight, I was always thin and could hardly ever gain any weight.  Hmm this all sounds like the typical CF symptoms.

My parents would take me to doctor appointment after doctor appointment.  The doctors just thought I was sick often and blamed other things like allergies and asthma.  At one of these appointments the doctor told my parents to have me tested for cystic fibrosis. So at an early age I had a sweat test done. Honestly, I am unsure of how old I was when I had my first sweat test.  The results came back from the test and indicated that my sweat test was normal. No elevated salt levels.  The doctor believed they ruled out cystic fibrosis by this test.

As the years went on I still was having these battles of bronchitis, endless coughing, and poor weight gain.  It was in June of 1998, when my allergist said maybe we should have him tested for cystic fibrosis again.  This was really the first time I had ever heard of this disease.  I did not know what to think.  I never thought anything of this because I had no idea what this disease really was or how I would end up with it.  My parents reassured me that I had been tested for CF when I was very young and the test revealed that I did not have CF.  

I had my second sweat test and again the results showed that I in fact did not have elevated salt levels and CF was ruled out.  So we talked about the results with the allergist and my mom mentioned that her cousins did have CF. On my dad’s side of the family no one had ever been tested for CF.

The next step in this process was for me to have my cheek swabbed to gather DNA to have it tested for the CF genes. This test must have been a relatively new test because I was never swabbed as a baby. The cheek swab was sent to the lab and the results came back and revealed that I was positive for CF.  My geneotype is not very common at all.  I have the genes DF508 and 3849+10kb-C-T.  These are the same genes that mom’s cousins have as well.  On a side note I have three brothers they were all tested after my diagnosis and they are carriers of the disease.  They all have the 3849+10kb-C-T gene pretty strange. So just like the textbook says my parents had a 1 in 4 chance of having a child with CF and they did.

I remember the day when my family received this news. Again, I didn’t know what to think. I had no idea what was going to be in my future with having discovered this disease at the age of 13.  After the diagnosis my dad was determined to find a great doctor who was specialized in CF.  Let me tell you he found the best doctor in my book!!! (Thanks dad for all your hard work finding him!!) I still see the same doctor I have been seeing since I was diagnosed.

I had my first appointment with my CF doctor and it was probably the longest doctor appointment I can ever remember. He explained everything to me and my family and made us feel reassured.  I then started medicines and from that day on I have felt much better health wise.  As far as me being thin, we decided to try enzymes. I was almost pancreatic sufficient but the doctor wanted to see if I could gain weight by taking them.  He was right and I started packing on the pounds.

So that is my CF diagnosis it is not the average story in any way but I am glad we finally have an answer as to why I was feeling sick all the time.   

On a side note I have three brothers they were all tested after my diagnosis and they are carriers of the disease.  They all have the 3849+10kb-C-T gene pretty strange. So just like the textbook says my parents had a 1 in 4 chance of having a child with CF and they did.

For those of you who read this and do not have a background on cystic fibrosis please visit http://www.cff.org/

Baby Shower!!!!!

Today, was the baby shower. I guess if I had to summarize the party in one word it would be fabulous!!! It truly was a great way to celebrate the upcoming birth of our baby girl, Alayna. There was a lot of work put into this party to make it a very memorable experience. We could not be more thankful for both of our mothers, my Aunt Bev, cousin Meg, and sister in law Angel.  They really put above and beyond the effort to make this a wonderful occasion.  Thank you again for all your hardwork!!!

There were close to 40 people that attended the party! Tons and tons of food was made and deserts.  We had a family friend who made the best cupcakes I have ever seen.  They could be in a magazine :) You have such a talent Caroline!!

The games were pretty neat as well.  A lot of thought was put into these, thanks Aunt Bev.  They played the guess the waist measurement of the wife, drawing a face on a plate above your head (yea, I dunno how to explain this game but it was funny), a game where you had to match the candy to a saying for new baby girl (again i dunno how to explain this one either), and other thoughtful games.

On to the gifts, I thought it was never going to end!!! Maria and I unwrapped gifts for sometime.  We received a lot of great stuff that will be used in the coming months.  A car seat, high chair, pack n play, books, toys, dolls, and CLOTHES to name a few!!  Let me tell you I think Alayna is going to be one spoiled little girl :)

I think everyone really had a great time and we could not have asked for anyting better!!!!!!!!!

There were two people (myself and sister in law) taking photos and with the combined cameras we took close to 600 photos. Talk about crazy!!! Here are some of them.

These Cupcakes were awesome!!

One of my favorite!!!

The beautiful Maria!!!

The two of us!



I could post a bunch more but I will stop here. We have so many more photos its unbelievable :)

Pregnancy Journey

WARNING I am hoping to not write a book but we have gone through so much to get pregnant.

My wife (Maria) and I have been married for almost 5 years and we thought it was about time to start our family. Throughout our relationship we always said we wanted to have kids and wanted to have a child without CF. Maria and I never thought we would have trouble conceiving as I was fertile and we assumed everything was fine with her. (Side note, I was tested to see if I was fertile around the age of 18. Yes, I am fertile! I am one of the lucky 3% who are fertile....so NO needles for me :)

So before we went on this journey we wanted to have my wife tested to see if she was a CF gene carrier.  Maria is half caucasian and half asian and my CF Dr. believed that she would not be a CF gene carrier because of this genetic makeup. We wanted to be sure that she was not a carrier before we proceeded with our dream. Thanks to Ronnie Sharpe we found the best possible lab for Maria to be tested for carrier status.  She had her blood drawn and sent to Ambry Genetics where they sequenced her for over 1,000 CF genes.  After about a month the blood test revealed that she was in fact a CF gene carrier. The gene that she does carry is very rare and my Dr. had never seen this.  Believe it or not this gene was linked to her asian ancestry. Who would have thought!!!

This news was very shocking to us. We still wanted to have our own biological child and wanted to insure that he/she would not have CF.  In order to do this we would have to use Pre Genetic Implantation Diagnosis with IVF.  PGD is genetically screening an embryo before it is implanted via IVF. The embryo has a single cell removed at Day 3 and sent to Chicago. In order to accomplish this we had to setup a probe at the lab in Chicago. Maria and I had a blood sample sent to the lab as well as her parents cheek swab. From this a probe was created to test the embryos against to rule out which embryos would have full blown CF and which ones would be only CF carriers.  We of course would only implant the CF carriers.

Maria then had another test performed to see if she was fertile. The insurance company required this before we began IVF.  Her test results showed that she had a blocked fallopian tube. Talk about another slap in the face. If there was any good to come out of this is that now the insurance company was going to pay for the IVF and PGD as she was now considered infertile.  A month later she had laparscopic surgery to remove the blocked fallopian tube and half of an ovary.  She also had a small metal clamp placed on her other fallopian tube. You truly are a WARRIOR babe!

Now we are finally ready to begin the IVF process with 1.5 ovaries.  With 1.5 ovaries it could make the IVF and PGD process difficult because we would be needing as many eggs as possible.  The first round of IVF we had 4 embryo's who were carriers of CF :) This is really unbelievable as we have read stories that some people who go through the PGD process are lucky to have 1 embryo to implant. We implanted 2 of these embryos and had the other 2 frozen.  Unfortunately, this round of IVF ended in a chemical pregnancy. This was probably the most stressful thing that we had ever encountered. On the brighter side though this meant my wife was able to get pregnant :)

We waited a month after the first round of IVF to start round 2. Round 2 was a little different as not all the embryo's survived to day 3 in order to have a single cell sent to Chicago.  A total of 3 little embryo's made it to day 3 and of these 3 two of them were CF carriers and the other was full blown CF.  This was amazing news!  The 2 CF carrier embryos were implanted and of the two one of them stuck!!!!! :)

We could not be more excited that our dream was coming true!!!!  We know that we our having a GIRL and we cannot wait to meet her!!! (Due Date October 23)  Dad got to pick out the name so she will be called Alayna Marie :)

When you feel that you have the whole deck of cards stacked against you, you can still beat it.  Our journey is like no other and through this journey it has brought my wife and I even closer!!!

Maria you are my true inspiration everyday :) To go through this you have shown me that anything is possible and to never give up hope! Thank you God for giving me this wonderful person in my life!!!!!

Hello!

I figured it was about time for me to create a blog!!! I have been following other blogs for sometime now so I thought it would be nice to share my story with others.  Eventually, I will blog about my CF diagnosis as it wasn't the most common route to discovering this diesease. Our pregnancy journey was also a journey in its own respect going through IVF and PGD.  I plan to also talk about other topics on this blog so hopefully it will be of some entertainment to people who read this.  So I hope that people stop back and check out these postings in the near future.  Bear with me I am new to this blogging thing :)