Great Strides 2013

This past weekend was the Great Strides walk!  The walk is the biggest fundraiser benefiting cystic fibrosis and is held all across the United States with over 200 walk sites.  I heard at the walk ,the Cystic Fibrosis Foundation (CFF) goal this year across the country was $42 million.  I want to explain that cystic fibrosis gets very little government funding  and one of the reasons behind that is cystic fibrosis is considered an “orphan disease”.   So we rely solely on the generous donations from individuals, small businesses, and corporations to help find a cure.  Today, cystic fibrosis therapy and medication has come a very long way in these last 20 years and we have the CFF to thank for pioneering these advancements.  The CFF has many drugs in its pipeline and there are drugs/therapies that I am benefiting from because of the CFF’s dedication to finding a cure. 

As for the walk, it was one HOTTT day.  The temperature was well over 80 degrees so that meant Alayna was staying home : (  I really wanted Alayna to come on the walk but I knew it was way too hot for her.  I was so excited to have her wear her personalized shirt that Maria made.  Next year, she will be walking right next to her daddy though.  I cannot wait! 

I have been attending this walk site for now well over 10 years and every single year there are more and more people which is AWESOME.  More people equals more money raised.  I can still remember 10 years ago this walk site was raising around $30,000.  Last Sunday, the goal was to raise $123,000.  When we finished the walk, they said the total raised was $121,000.  Woo hoo! 

My team had a great time this year.  We raised a record amount of $1,695. I am so blessed to have a wonderful family and friends who want to see a cure for CF one day. My team included Maria, my mom, my friend Tom, and my friend Jason and his wife Emily and their daughter Katie.  As always, I have a wonderful family including Maria’s side of the family who always supports me on the walk and I cannot thank them all enough for how much money they donate every year.  This year my friend Jason, donated money at Christmas time to the CFF.  Instead of buying gifts they decided to donate money to various charities.  The CFF was on his list and I cannot say enough about your kindness and generosity Jason! Not only are you my friend Jason, you have listened to me talk about CF and you also were there to provide a positive mindset when Maria and I were going through IVF.  I also want others to know that you wanted to actually learn more about CF and checked out a book at a local library on CF.  Not many people I know would actually go to a library and read about their friend’s disease. 

My friend Tom has been going on the Great Strides walk for a few years now and it is always great to have him there.  This year he decided he was going to do something very generous for me and for all of us cysters and fibros.  Unfortunately, Tom’s mother passed away and in the obituary he wanted people to donate to the CFF in lieu of flowers.   This was beyond a gracious gesture as his mother had no ties to the CFF at all.  I was very surprised that people donated close to $200 through this in lieu of flowers.   Uncle Tom (uncle Tom is what we call Tom now in our house) THANK YOU for being a great friend!!!

We all had a great time walking our 10K walk and we even finished in record time, under 2 hours!  I am so blessed to be surrounded by amazing people who care about adding tomorrow’s to my life.  If I did not have such a loving wife, family, and friends my life would truly be incomplete.  As for the Cystic Fibrosis Foundation, I cannot say enough about their drive and dedication to make these two letters CF one day soon stand for CURE FOUND.

 

 

 

 

 

 

 

The Latest Update On Maria's Liver Results

I would like to give everyone an update if anyone is wondering on the status of Maria’s blood tests. If you did not read the last post here it is. 

We received the news of the blood tests early this week.  They were again checking to see if her elevated liver enzymes were tied to any genetic diseases.  Celiac disease, Alpha 1, and lupus to name a few.  The results did come back showing that Maria does NOT have any of these genetic diseases. So some of you may say well that is great news.  In fact, that was my first initial reaction but we still do not have a single answer yet.  Maria’s liver enzymes are triple what they should be for someone of her age and her current health.

So now what? If you recall the doctor wanted to rule some things out and the first step was to rule out those genetic diseases.  Now, the doctor would like to have an MRI performed on her liver.  The MRI will be used to see her liver basically the imaging inside the liver and the surrounding organs.  They will be able to see if there are any growths, tumors, or if there is any possible liver disease.  The MRI will also look at blood flow to the liver and make sure things are not blocked to any organs.  Maria has had an ultrasound performed and the results show nothing wrong with the shape of the liver or any growths.  The MRI will provide a more definitive answer than the ultrasound is what I have read.  

We are still waiting on the radiology department to setup the MRI.  So we sit here and wait.  It is not fun at all not knowing what is going on and that something maybe wrong with the one you love and care about.   I am hoping that Maria fits into that category the doctor has of seeing about 20 patients in his career who just have elevated liver enzymes for no apparent diagnosed reason.  

If there is anything that could be possibly wrong with anything I know that this family will take whatever steps is necessary to return Maria back to full health.  It seems like this road back to 100% health has been very long and even a mystery but I know we will get to the bottom of this.  This family is stronger because of our path we have been on these last few years and nothing will ever bring us down!

So that is the update and I will post again when I have more information.  Your thoughts and prayers are greatly appreciated.   

Alayna 7 Month's Old!

This is a little late Alayna. May 17 you hit the 7 month mark and where has time gone! But life has been very very busy this past week.  We still cannot believe you are another month closer to your first birthday.  You are growing up WAY TO FAST.

You are one long baby Alayna.  At your last checkup you were still in the 90^th percentiles in height.  In fact every time we look at you we cannot believe how long you are.  We are still not sure where you got all this height from because mom and dad are not tall.

 
There is something you really are starting to love and that is BABY FOOD.  In fact, you know what a bib is and when daddy has it in his hand you get all excited because it is time to eat.  You love every single food that comes out of the jar.  I think your favorite now is bananas.  At first, we started to just feed you half the jar and save the rest for another feeding but now you will eat the entire jar. Sometimes you act like you have never eaten anything before. You are our little hungry machine.  
 

The best part of feeding you is your personality.  You get the biggest grin on your face and show those two little white teeth on the bottom.  Sometimes you will let me know when you want more because you get very vocal about asking for more food.  We still have yet to start you on a baby cup but soon we will introduce you to that. Who wants to eat food and not drink anything? 


We are still working on getting you to sit up by yourself on the floor without mommy or daddy behind you.  The problem is you like to put everything in your mouth and you lose your balance easily.  Soon, you will be sitting up we know it. But you love to roll around from your tummy to your back and you repeat it.  In fact, you will even roll across the floor like that with the biggest smile on your face.  As far as you moving, you love to not sit still at all and you will tell us if you are bored.  You will grab anything and everything in your sight and put it straight to your mouth because eventually you will get more than just those two teeth on the bottom.
 

Alayna, you did reach a big milestone this month and that is you said your first word.  Mommy was telling me that you said mum but I didn’t hear it so I thought she was playing a joke on me. I read you one of your favorite books called “Where is Mommy?” and half way through the book you said mum.  In fact you repeated it another time. So I admit your first word is mum and not dada!! I am so glad that your first word is mum as your mommy is beyond your favorite person.  Now, when you get sad or mad you will scream out mum and it is so adorable.  I guess I wouldn’t want it any other way when it comes to your first word. 
 

As I write this post Alayna, you are sitting with your daddy watching me do my evening airway treatment.  You seem to have understood why I put you in your chair and you sit and look at daddy for a good 20 minutes now.  It is funny because I think you have picked up on something that daddy does when he is doing his treatment and that is coughing.  I cough at least every 5 minutes when I am vesting and you get this look on your face like daddy are you ok? I give you a big smile and you will smile back letting you know I am just fine. But you now will cough randomly during the day and get a big smile on your face! I guess you picked up on something daddy coughs and then he smiles so you do the same thing now. 
 

Well things you dislike that is pretty hard to find very many because you are such a happy baby.  Right now you have your moments to let us know when you are not happy. You like to play with toys now so you will let us know when you get bored.  So we take you out of your chair or go play in your room. Your favorite toy is your lady bug that has blocks on it! You will get fussy if we do not feed you fast enough as well.  I am coming to a blank right now and that is all I can think of on the things you dislike.
 

I cannot believe next month you will be 8 months old! I bet you will be crawling soon and that means it will be non stop movement for you Alayna.  As always mommy and daddy love you!

Doctor Appointments - Liver Doctor & CF Clinic

If you read my last blog post you would have read that this week was a busy week.  Maria had her appointment Tuesday for her liver doctor.  She went to the liver dr (gastroenteroligst) to see why her liver enzymes have been elevated since this past December.  Then on Wednesday it was my turn to head up to CF clinic for the lovely long appointment and drive. 

Here is how Maria's appointment went.  Overall, it was a good dr visit.  We met with the dr and he was very nice and explained everything very well.  The course of action and some reasons and things to rule out as to why Maria's liver enzymes have been so elevated.  In fact, they are 3 times what they should be.  I asked if it could have anything to do with not eating enough and breastfeeding or a rapid loss of weight.  He said no there is no relationship there.  So he went over a few things with us and said he wanted her to have a blood test to check for a couple genetic diseases.  They were celiac disease, alpha 1, and lupus.  Maria did have about 10 blood tests run since December but he wanted to test fully for these disease to rule them out.  Once the blood results come back then she will have an MRI of her liver if the blood results do not show any diseases.  Then if the MRI looks good he may recommend a liver biopsy to check for what is called "fatty liver".  But Maria does not fit into the "fatty liver" diagnosis as she is not overweight, no diabetes, and does not have high blood pressure.  If nothing is revealed from any of these tests she may be in this doctor's category of about 20 patients he has seen that have unexplained elevated liver enzymes.  As you know from our past few years we could definitely fit into that 20 patient list because all the rare things happen to this family!!! The doctor did reassure us that he did not think it was anything serious at this time which is really good.  So we left the office feeling I would say overall pretty good.  We of course shared our story about our fertility process, labor experience, and our handicapped dog, and my CF. Both the doctor and nurse said we have a lot on our plate.  Well, welcome to our life we take the challenges and conquer them. That is how life is meant to be lived!

But here is something interesting that Maria and I were talking about today.  Remember that clip that was on Maria's fallopian tube? She had it placed there to prevent a future birth as she is a CF carrier if you are new to this blog.  The only way we would conceive is through IVF and PGD, again for any new readers.  Well during our labor experience that clip was not on the fallopian tube anymore in fact the OBGYN had said it was next to the tube attached to veins.  But as we all know you can google anything and read stories.  Maria googled about these clips and them floating around in your body if they become detached and read that someone had their clip attach to their lung!!! So we forgot to mention this at the appointment but could it be a possibility that the clip is attached to her liver?  That we do not know.  I would say most likely no but its worth to question this.  Maybe if she does have the MRI it could reveal if the clip is attached to her liver.  More to follow on this when Maria talks to the doctor next week. 

Here is the summary of my CF appointment.  As always these are very long days because I work till about 2 pm on clinic days and then head home to pick up either Maria/my mom or both of them for my 4 pm appointment. Then we make the hour drive to clinic.  We got home at 7 pm so it was a VERY LONG day!

I love how I have Maria/my mom or both of them  to go with to my appointments as it keeps the anxiety level low for me.  The appointment was going to be a long one because as I said I am participating in a research study.  To summarize the research study its dealing with my PFT and approximately 10 questionnaires about my health and mental status. They are looking to see if there is any correlation between mental status and how you feel when it comes to PFTs.  The research study adds on a good 30 mins to the appointment and I have to do a PFT every time I am at clinic now.  There will be times when I only do PFTs every other appointment.  In fact today, I found why this is and I never knew the answer.  I guess its required that I do one at least once every 3 months. Now it makes sense because I usually go to clinic every 2 months but the time between my last visit and today was 3 months.

As always I try to mentally prepare myself for clinic and I usually over think the appointment because they have usually been really really good appointments.  Today, I had another really good appointment.  The doctor said that these lungs of mine sounded very clear which he says every time.  I was able to cough up some nice mucus for him.  In fact, I was worried that I wasn't going to be able cough anything up as my cough was not very productive today.  I always want to have mucus they can test in the lab to make sure I am not culturing any new bacteria. 

As I mentioned, my cough was not very productive and I actually talked to the doctor about adding hypertonic saline (hts) in the evening.  Right now my evening vest treatment is not very productive as I do not cough much mucus up at all and I think I can add some hts to help increase the effectiveness of my evening treatment. I have tried adding the hts 7% in the evening but all that does is make me cough like crazy during my sleep.  So I asked about hts 3% as I have read that this is not as potent and is more tolerable than 7%.  I love using hts 7% in the morning but I want to move that mucus out in the evening.  The doctor said it was fine to try the 3% hts and I will be getting a perscirption for that soon. 

Now on to the PFT test to see how my lung function has been.  I have to say I made an error in my February CF clinic post about my FEV 1. It was really at 67 and not the 70 that I had blogged. I asked the respiratory tech before we started what my last FEV1 was and she said 67.  I thought it was 70 but anyway she looked at my chart and I have been at a baseline of FEV1 of anywhere from 65-74 these past 2 years.  I guess I am pretty consistent which is good. The respiratory tech was really nice and she coached me which I love.  I love when a woman is screaming and shouting at me who doesn't!!! Haha! But I honestly still like to be told take a deep breath in and blast it out etc etc.  For my first attempt I blew a 72 which I was pretty pleased with since three months ago my FEV1 was at 67.  Second attempt I blew a 71 and for the third attempt I blew a 72.  So today I got credit for a FEV1 of 72 and a FVC of 96.  I felt pretty good with those results since they went up by 5 points or almost a 10% change from 67.

So what have I been doing differently these past 3 monts.  Well I honestly have to say I think my PFT has went up because of my compliance to my airway treatments. I have also been doing my morning treatment a little longer than usual.  I am now going on a nice long streak of NOT missing a single airway treatment for almost 4 months now! Woo hoo!!!  But as I always say a PFT is just a number and WE focus way to much on this in the CF community.  Yes, its good to know how are lung function is but it is still only one piece of the CF clinic puzzle. 

I made sure to ask a few more questions before I left.  I always ask what was in my last culture.  Doctor told me that staph and acromobacter is living in my lungs.  That "A" word bacteria has been in there for a while but seems to not impact me.  The biggest thing is that I have been PA free for well over a year now.  I believe that the "A" bacteria has taken over and is more potent than PA.  So I hope the PA stays away forever!!!!! 

Another question that I did ask about was Kalydeco and my gene.  As I have blogged about recently, there is a study in Denver that is looking at splicing mutations and various other genes and the impact of Kalydeco.  My doctor really had no idea about the study or if my gene is even considerde a splicing mutation.  I have 3849+10kb CT mutation and according to Vertex that is a splicing defect gene.  But he did mention that our clinic is studying Kalydeco on heteros who have at least one copy of DF508 and other mutations.  He did check with the research team to see if I could participate but my gene combo is not on the list BUMMER!!!  But I know in my heart and on Facebook that Kalydeco will work for me.  It is working for my exact gene combo its only a matter of time before it will be approved for more genes. 

Now, to summarize both these dr appointments.  Maria's appointment went pretty good. The doctor was very nice and answered all the questions we had and the biggest thing is he has a plan of action.  We are just waiting on the blood results before we move to more testing.  The MRI and liver biopsy could be down the road.  We will see but I am glad we found a doctor who is compassionate and caring.  My CF clinic went well.  PFTs are up from FEV1 67 to 72.  The lungs sounded good and I will most likely give 3% hts a try in the evening soon.  So that is a wrap!!!

I'm Still Here!

I guess it looks like I went MIA for a little while.  My/our life has been really really busy this last 1.5 weeks. But I still do not know where the days or weeks ever go anymore.  Just imagine I AM NOT COMPLAINING but I have a lot on my plate.  I work full time which has been very hectic lately., I come home to an amazing family and I want to spend every second with them because when I am gone at work I miss both my girls A BUNCH.  I try to do as much as I can when I do get home (laundry, clean, dishes, empty dishwasher, fold clothes, the list goes on). And yes I do have Cystic Fibrosis so I make sure to get my 2 sets of airway treatments in even if it is past midnight.  So here is a bullet list of what has been going on or what will be going this week.  This week is very busy in our household.

• WE celebrated Mother's Day Sunday! When you go through a fertility journey like we have, celbrating Mother's Day is liking celbrating the Super Bowl or a Birthday.  WE have grown to learn that through our fertility process that life is truly so beyond precious.  WE honestly did not know if we were going to be able to have a child.  Alayna has made many dreams come true in our life.  I just want to say that my wife is my best friend, my soul mate, the woman of my dreams, and is also the MOTHER to our daughter.  No one can ever take that title from you Maria! 

• As I mentioned above this week is really busy.  Here is why..........Tuesday, Maria has a doctor appt. with the liver doctor to go over why her liver enzymes are still elevated.  WE need to get some answers and a plan of attack on why they could be elevated.  WE have heard elevated liver enzymes maybe because of a fatty liver and other things.  I am just praying that we get some answers on this soon. 

• I have CF clinic on Wednesday and I will be participating in that research study I mentioned I was in last clinic visit.  Basically, its a bunch of questionaires and I have to do a PFT.  Sometimes I will not do PFTs but I am every time I go to clinic because of the study.  They want to see if things have changed and some of the questions that I answered could tell them why. If that makes any sense.  As we know in the CF community the PFT is a love hate relationship.  But I have been feeling pretty good lately.  I will be asking about starting HTS 3% in the evening as I only do 7% HTS in the morning.  I plan to update the blog by at least Thursday night on the results of Maria's and my dr appt.  

• Alayna will hit the 7 month mark on Friday so expect a post on Friday.  She has said her first word and she will repeat it through the day now. 

• This sunday is the Great Strides walk for my team.  I am looking forward to making our team donation and seeing how much money was raised.  I have been doing the walk for well over 10 years now and the total that is raised at this walk is amazing.  I will hopefully update the blog by Sunday or Monday. 

• I still plan to write the Kalydeco Part 2 blog soon.  I just don't know when.  My "free" time now a days is when I am vesting.  In fact, I am writing this as I am being shaken to death. 

• Since May is CF awareness month I am going to write about how I opened up about my CF in the workplace and elsewhere.

So looks like a busy week and hopefully some posts will come out of all this.  I hope everyone who is reading this is doing well and remember to spread some CF awareness this month as May is our month!!

A Month Full Of Thankfulness & Gratefulness - April

Every month, I will be challenging myself to create a post of what I am thankful and grateful for in life. This will allow me to reflect on all the POSITIVE that is happening in my life. As we all know you get nowhere when you focus on the negatives in life.

• I have moments in my life where I step back and think about how lucky I am to have what I have in my life. Here is why…………… I have a loving wife who would do anything for me and for our family.  There is nothing in life like knowing you have that person in life who is your biggest cheerleader in everything you do. LOVE YOU Maria!!  WE have a miracle daughter and when I think back upon our pregnancy journey I wouldn’t change it for second.  I know Maria I would have loved for you to not have gone through every thing that you have in these past 2 years but I think it has made us stronger in every single way!  Not only has it made us a stronger couple, it has also given so many other people hope in creating their own family.  I am so thankful I decided to share this journey with all of you.  I have found a new passion in my life that I never knew existed by going through our pregnancy journey.  Infertility, is a true nightmare in fact a living nightmare.  For anyone who is struggling with this process WE can understand as we were in that boat.  But I would like to say NEVER GIVE UP on your dream of a family. 

• This bullet is for you mom and dad.  I am so thankful for having some of the most loving parents I could ever ask for.  I have come to find out recently that some individuals in my community may not have had that opportunity when it comes to the CF lifestyle that I have had and it truly is not fair! Thank you for always standing there by my side in dealing with my CF. I still remember that day and the first year that I was diagnosed with CF. It was shocking to you both but you never put it on the backburner at all. You accepted that your son had an illness and you both were determined to make my health a priority.  Dad, I can remember how determined you were to find the best doctor when I was first diagnosed. Dad, I can never thank you enough for finding me the best doctor out there and the doctor who understands me like he is part of our family.  Do you remember this dad….When we didn’t have the Vest you thought that I should wear a vibrating back massager on my chest to break up the mucus?  I can remember you calling the Homedics makers and writing them letters to see if this was being done in the CF world.  Maybe you should have been a researcher!  Mom thanks for always going to the CF appointments with me. You always till this day make it a priority to come with me to clinic even at this age when I can go alone.  (Yes, I have an entourage when I go to CF clinic….usually Maria and my mom both go. What a great support system you all are!).  Most of all mom and dad you never ever told me that I could not accomplish my dreams.  I am so thankful to have an AWESOME support system when it comes to my CF! I can never thank you enough!

 

• Alayna celebrated her 6 month birthday in the month of April.  She is continuing to grow and change in front of our eyes.  I want to press the pause button sometimes just to slow things down.  Time is going by so fast.  Before we know it she will be walking across the floor and eating dinner at the table with us.  Here is Alayna's 6 month post.

• I was very pleased to find that Kalydeco the magical pill may benefit me specifically my gene mutation.  It has yet to be approved for any other mutation except G551D but it looks vey promising that Kalydeco will benefit a few other residual function mutations.  I am in that boat and I will be following the research study to see what comes out of this.  I cannot wait to hear what the results are in September. Here is the Kalydeco link.  I will continue with part 2 soon!!

• I am thankful that my fibro Jeremy and his wife Monica have had two healthy twin boys in April. They went through IVF just as Maria and I did and I am so happy everything worked out for them.  The twin boys are beyond adorable and I love seeing pictures of them.  Even though I do not know Jeremy or Monica on a personal level I know these two boys were born into one AWEOME family.  Congrats to the both of you! If you would like to read about Jeremy and Monica's experience take a visit to their blog and you can see all the pictures of their adorable twin boys.

 

• I have found in life that there really are a good amount of people who care about me from immediate family, to my aunts uncles, in laws, friends, the list goes on.  But I was really taken away when a good friend of mine whose mom passed away recently.  He asked me for the address of Cystic Fibrosis Foundation and where checks should be made payable as he wants to put this in her obituary. He wanted to put this in the obituary in lieu of flowers.  His mom has no connection to the CF Foundation what so ever!  I am so thankful that I have people in my life who care so much about me and want to see a cure for me and everyone else! Thanks for your friendship Tom!!
   

• Well winter is officially over and I made it through winter with no colds and no flu! Woo hoo to that! I am honestly shocked by this because I work in an environment where everyone sits very close and people were sick numerous times.  I guess these CF vitamins helped keep those bugs away.   But I am knocking on wood (my brain) as I say this because I do not want any sickness.  

 

•  I am thankful that the weather is finally getting warmer.  This will make me get my butt outside more to take walks with the family.  I need more exercise in my life. 

• As a lot of us know May is CF awareness month.  During this month I plan to write a blog about how I spread some awareness about CF lately.  I am thankful that there is a month dedicated to CF but the thing is it is up to us to spread the word!!

 

• April has been another month of 100% compliance for me, Woo hoo!!! Since starting this monthly thankfulness back in February I have not missed a single airway treatment.  I have had 3 full months of tracked airway clearance and I have been 100% compliant!  This even includes doing airway treatments at 2 am.  Nothing like falling asleep and waking up and hearing Maria say you didn’t do your vest.  Do I need anymore motivation when the woman that loves me more than anything tells me to get my butt out of bed at 2 am to do my vest? If she is telling to get out of bed and take care of myself I better do it! 

Just like last month, this list is really long and could continue but I will end it here.  So with all that said........What are you thankful for today?