Kalydeco

I guess this journey begins a few months ago, when the fda approved the "miracle" CF drug Kalydeco for people ages 6 and above with the R117H mutation, which is one of Lex's mutations.  Kalydeco is the first drug to target the underlying cause of CF.  This medication, in the first group of people with CF who were able to take it, was having amazing effects.  Reversing lung damage, increasing lung function to unheard of numbers, making infections and hospitalizations practically nonexistent, etc. etc.  I found from talking in internet groups with people involved in the trials, that the trials with R117H were not quite as miraculous, but still amazing.  I also found out that they were working on a version, granules, for children ages 2-5.

About a month ago, this granule version was approved by the fda.  I immediately called his team at the CF clinic and asked how we get him started.  They said that this was all very new to them too, and they needed to do their own research, and we would talk about it at his next clinic appointment.

That appointment was Thursday.  It was an incredibly long and draining, but ultimately great appointment.  The doctors, of course, made sure to tell us all the things we already knew about Kalydeco.  Possible side effects, what to expect, and how we would go about getting this $600,000/year medication.  We knew that Lex would have to consume 15-20 grams of fat with each dose for the medicine to work (this involved a lengthy talk with the dietitian due to Lex's eating issues).  We knew to expect a fight from the insurance company, and that Vertex (the company that makes Kalydeco) will provide an advocate to deal with the insurance company for us.  We knew there were some tests that would have to be done to get baseline data and some tests that would have to be performed regularly to monitor for certain possible side effects.

So, the unpleasant part of the appointment was that we had to do some of these tests, which meant painful procedures like blood draws and Lex's most dreaded throat culture.  Of course, it is without any argument that the benefits of Kalydeco will greatly outweigh these things.  His labs all came back good, and his ophthalmology appointment is next week.  Once we have the all clear there, he will be okayed to start taking Kalydeco whenever it gets approved by the insurance.  No idea how long that may take, as Lex is only one of 2 kiddos at Nationwide Children's Cf clinic who is able to take this drug.

The appointment Thursday was eventful in several other ways as well.  Due to his slowly increasing repertoire of foods he will eat (thanks to some ABA strategies we have learned since his Autism diagnosis), he is exactly at his goal of 50th percentile for BMI.  This is fantastic news, as weight gain has been one of our biggest struggles.

We also discussed how we are going to handle pft's (pulmonary function test), as he is getting too big for the "infant" pft machine, yet still a bit young for the whole "blow as hard as you can into the machine" kind (and we suspected this would be a greater challenge due to his Autism as well).  It was decided that since we are going to have to put him under for chest and sinus CTs, we will also do the "infant" pft one last time, but also take him to the "blow as hard as you can" machine to practice and get him used to the equipment.  He was not afraid of the equipment at all (which was a huge surprise because even the harmless pulse oximeter freaks him out a little).  With several favorite doctors, nurses and respiratory therapists watching from the hallway, he tried a few times and then blew the thing away to cheers from his audience!

So, Thursday was a long, tiring, at times extremely unpleasant, but ultimately very positive clinic appointment.  And now we wait for Kalydeco to show up on our doorstep.

Long Time No See

It has been a while since I've written, because I haven't felt like writing about what has been going on.  Here is a brief update about the last few months to catch you up on things. 

Last I wrote was in August before Lex's hospital stay.  He was a complete champ through everything, of course.  But a long hospital stay is very physically and emotionally draining for me and I just didn't have it in me to update the blog.  I apologize to those who care about Lex and were waiting for updates.  His sinus surgery went well and his bronchoscopy looked good and the culture didn't grow anything!  Which was kind of shocking and amazing!  Elmo came for his birthday and the hospital staff also made it pretty special, as did the friends and family who came to visit.

Since then I have been pretty preoccupied with other issues going on with Lex.  Even though it is not CF related, I decided I will talk about it here because I know that people who read this blog care about Lex and want to know what is going on with him.  And because it is just another part of who he is that we can understand better now.  Lex is being diagnosed with Autism.  He will not have his official diagnosis until his next appointment, Dec. 16, but the psychologist has told us what the diagnosis will be.  Lex has always had some quirks and strange ways of communicating and things that make him the wonderful, amazing kid that he is.  Now we have a name for and explanation of why some of his behaviors occur, it's because Lex has Autism.  Specifically "High Functioning Autism Without Cognitive Delays and Without Language Delays" if I remember it all correctly.  Quite a handle.  They don't use the name Asperger's Syndrome anymore,  but that is basically what it is.  So I have been dealing with that both mentally, emotionally, and also physically as I fill out questionnaire after questionnaire, take him to appointments, make phone call after phone call, etc.  I'm getting to be in a pretty good place with it, but it's been a journey.

So this brings me to today's appointment and the reason I was re-inspired to start writing again.  Lex had a super awesome appointment at CF clinic today.  It started out great right from the beginning in the little room where they weigh and measure him etc.  He has always been deathly afraid of being measured.  Whether laying on the baby table measure thingy (which he outgrew several appointments ago) or standing against the wall measure thingy, being measured has always been something that caused a complete melt down for Lex (we now know this is due to his Autism).  Therefore, getting an accurate height, which is vital to getting an accurate BMI, has always been a challenge.  Today he stood straight and still, holding my hands and looking at with fear in his eyes and a brave face as he let the nurse get his measurement not just once, but the three times they like to do to ensure accuracy.  I was so proud of him I almost cried!  He gained 2 pounds in the last 4 weeks, putting his BMI at 47%ile.  This is the closest he has been to the 50% goal since he was 10 months old!  He had a minor freak out for the finger thingy, but did ok, and his oxygen was 100%!!

The new fellow we saw today was named Dr. Smiley!  I kid you not, DR. SMILEY!!  I actually asked him if he was serious and told him that was the best name for any pediatric doctor there could be.  And he lived up to it.  He was adorable, friendly, amazing with Lex, and thorough.  I'm just sad that he is a military doctor so will most likely leave us when he finishes his fellowship.  We discussed stopping one of his medications, Flovent (a daily inhaler that is used for asthma and is not proven to help cf patients that don't have asthma).  This is something I have been wanting to do for almost a year and for one reason or another the timing hasn't been right for the doctors to agree to it.  Today they all wholeheartedly agreed that he doesn't show any signs of asthma, and has had no incidents of wheezing, trouble breathing since he had paraflu, so discontinuing the Flovent is the right thing to do.  We have to watch for any new symptoms to occur to be sure, but we are all pretty confident this is one medication Lex does not need.  So 1 medication of the list is a good thing in my book!

He also got a pop in visit from one of his favorite nurses, Amy.  She was on the pulmonary unit during his admission in August and left him this sweet present on the door of his room after he had had a particularly rough day.

 

He was due for his annual labs, so we had to go get lots of blood drawn, which is never fun, but he is such a trooper and gets over it all pretty quickly.

All in all, his health looks great right now and we don't have to go back to clinic for 8 weeks.  That is the longest he has ever gone between appointments!  So I am taking this one as a major win.  I've been needing one of those lately.

Great Strides and Great News

The Columbus Great Strides walk was yesterday and Team Lex Express had a great turn out.  The weather was nice, just a bit windy, and we really enjoyed a lovely afternoon surrounded by family and friends.  Plus we raised over $5000.  It is hard to explain how full it makes my heart to see Monkey running around, playing, surrounded by all the people who came out to show how much they love and support him.  To everyone who came yesterday, thank you from the bottom of my heart!

                                                              Team Lex Express 2014

 

 Monkey in his special green shirt that identifies him as a cfer.  People with cf can pass dangerous bacteria to each other and are supposed to stay away from each other.

Today I got the most wonderful news since I found out Bug (Monkey's baby brother) didn't have cf.  After waiting anxiously for almost a week, I finally heard from the cf clinic about Monkey's last culture.  It grew absolutely NO Pseudomonas!!  I was so ready to fight for more aggressive treatment that I almost didn't believe what I was hearing.  I asked her 3 times: "none?", "all 3 strands are gone?", "even the mucoid strand didn't grow?"  I think I was floating on a cloud for a while after that phone call.  I wanted to tell everyone I saw, even strangers!

This little battle was just the first of many lung damaging monsters we will have to fight.  It was really scary for me and made everything far too real.  I just wish I could freeze time until that cure comes.  I know it's just around the corner, I just wish it would hurry up and get here.

Busy month

It has been a month since my last post.  Life has been very busy during that month!  My fundraiser was a big success.  We raised over $4000 for the CF Foundation.  I was so happy to see a lot of old friends as well as new friends and family come by to show their support.  It was really nice to reconnect with some old friends I had not seen in a while.  It was a lot of work, but definitely worth the effort, so I will be making it a yearly event.

Monkey just finished his month of Tobi, which more than doubled the time in took to do his treatments each day.  It was all we could do to get him fed, get his treatment done and give him his bath and get him ready for bed each evening.  I think we only got him to bed on time about twice during the last month.  Then, we had to wake him up early each morning so we would have time to get everything done in the morning before we had to leave for school/work.  He was exhausted, we were exhausted, and it felt like his whole little world was treatments.

I am so glad that is over with (for now), but am a nervous wreck about whether or  not we got all the Pseudomonas.  He goes back to clinic for another culture on Tuesday, and I think I will have this sick feeling until the culture results are in.  If this culture still grows Pseudomonas, they will likely admit him for a round of IV antibiotics for about 2 weeks. 

I am also nervous because it will be our first time at the Tue/Thu clinic, with new doctors, and I will likely have to go by myself!  Monkey will have to wear a mask while at clinic, something we have never successfully gotten him to do.

So there are a lot of unknowns right now, and unknowns and change make me very nervous.  Trying to keep my energy focused on positive things, like the Great Strides walk next weekend.  To join or donate to Team Lex Expess, visit my Great Strides homepage here. 

We are forever grateful to all the people who support us and show Monkey how many people care about him!

                                             Pictures from the Lex Express fundraiser
                                        

Treatment

Our first visit to the CF Clinic was an educational visit.  My parents came with us, and we learned about Cystic Fibrosis, and what it would mean  for Monkey and our family.  We found out that Monkey's 2 mutations are fairly uncommon, and the combination of the two was very rare, therefore they did not have a lot to go on as far as what to expect.  We  were very encouraged to discover that Monkey is pancreas sufficient, which means that his pancreas functions normally, unlike most people with CF.  He would not have to take the tens of enzyme pills a day in order to absorb the nutrients in the food he eats that most people with CF have to take.  This was a huge relief.  They do not know for sure that his pancreas will continue to function throughout his life, but they believe that it will.

So, keeping Monkey healthy was going to be mainly about keeping his lungs healthy.  We learned about the different medications he will take and about airway clearance.  They taught us how to do Chest Physiotherapy (CPT).  This is a way of giving percussions, or pounding, on specific spots around his chest, back, and sides to loosen the mucus in his lungs in order for him to be able to cough it out.  This is done with a small rubber percussor.  There are 12 different locations on his body that need to be percussed for 2 minutes each.  This is done 2-4 times a day.  I used to joke that I had to beat my baby everyday per doctor's orders.  In all reality, giving CPT was incredibly difficult and emotionally draining.  Monkey was 4 weeks old when we started giving him these treatments.  He would scream and cry the entire time.  He was so tiny and vulnerable, and it broke my heart to have to continue to pound on him as he screamed.  Every bit of me wanted to pick him up and comfort him , but I knew that to keep him healthy, I had to finish the treatment.

 These are Monkey's percussors.  The small pink one was his first, and when he got a little bigger, we got the cream one.

                                   This is Monkey having his CPT treatment when he was about 4  months old.

 Eventually, when he was 10 months old,  Monkey was big enough to fit into an airway clearance vest, which is attached to a machine and shakes vigorously in order to break up the mucus in his lungs.  This was much easier for everyone than doing the CPT by hand.  He was able to sit upright, and we could read books or play while he was getting his treatment, he was even able to move around a little bit.  This is how he gets his airway clearance treatments still.  When he turned 2, his settings on his machine were changed from 24 minutes to 30 minutes.  It was also set to shake a bit harder.  As he gets older, his settings will continue to change and shake harder to break up as much of that nasty mucus as possible.

      This is Monkey having a vest treatment at 10 months old.  This is one of the first few times he wore the vest.

In addition to the airway clearance, Monkey also takes 2 medications through a nebulizor.  Albuterol is taken before every airway clearance, and is a bronchiodialator, which helps to open things up so he can cough out the mucus easier.  This is a medication common to people with asthma and other respiratory illnesses.  He also takes Pulmozyme once a day.  This is a mucus thinner and is a medication specific to CF.  It helps to keep his mucus from getting overly thick and sticky.    He also takes Flovent through an inhaler twice a day.  This is another medication common for asthma, it is a corticosteroid.

In all, his medications and treatments take a little over an hour a day when he is healthy, and up to 2 and a half hours a day when he has a cold, cough, or any other respiratory illness.  People often tell me they don't know how I do it.  My response is always, I don't know either, but if it were your kid, you'd do it to. 

Diagnosis

The day Monkey was officially diagnosed will always be fresh in my memory.  My sister had come from San Fransisco to meet her new nephew and was there the day of his sweat chloride test.  My mom had come from 3 hours away to be with us for the test.  We didn't know for sure if the test would lead to indescribable relief, more testing, or a diagnoses.  I don't think I could have gotten through that day without their comfort and support.

Monkey had 2 tests done at Cincinnati Children's Hospital that day.  For the sweat chloride test, they first stimulated the sweat glands on his tiny arms electronically.  This caused him some discomfort, and of course made him cry, but was not all that terrible.  They then attached a small sweat collecting gadget (that is probably not the scientific term) to each of his arms, wrapped them tightly in plastic, then bundled him up in heavy blankets and sent us into the waiting room.  We then waited about 30 minutes while the gadgets collected the sweat from his arms.  At the end of the waiting time, they unwrapped him, collected the sweat from the gadgets and sent it off to be tested.  The salt content of his sweat is what would be the final determining factor in whether he would lead a "normal" life, or one filled with medication, daily treatments, doctor's visits, hospital stays, worrying about his weight, worrying every time he coughs, etc., etc.

                             This is a picture of the "gadget"  It is collecting sweat in the tiny coiled tube.

While at the hospital, he also had to have another blood test.  However, this time, instead of a heal prick, they actually tapped his tiny little vein and filled several tubes with his blood.  As I held my tiny baby and tried not to watch the blood flowing out of his arm, I remember thinking, "he's so small, how can they take this much of his blood?"

The tests were finally over and we left the hospital to await results.  It was a fairly cold, rainy September day, but we needed to do something to stay occupied and keep our minds off things, so we wandered around a cute little area near my house visiting a few local shops and stopping for a snack.  We finally went back to my house and waited for the phone call.

When the call came, I was terrified to answer the phone.  All I remember is that I was told that Monkey did definitely have CF, no more tests were needed.  The nurse continued to tell me about next steps, but I was not really comprehending anymore.  My eyes filled with tears, I looked at my mom and mouthed, "he has it".

We cried, we hugged each other, we hugged monkey, and then my mom turned to my sister, the librarian, and said "find the best doctors and all the information you can."

We all pulled it together, put our big girl panties on, and began figuring out what needed to be done to keep Monkey as healthy as possible for as long as possible.  We discovered that the CF Clinic at Cincinnati Children's Hospital was the second best in the country.  We discovered the amazing progress that had been made in managing CF over the past couple decades.  We discovered that the average life expectancy of a person with CF had gone from about 6 years old to 36 (still a scary thought when talking about your child).  We discovered the encouraging advances toward a cure (which I truly believe will come in Monkey's lifetime).  Our dispair slowly turned to hope, and we waited to learn more at our first visit to the CF Cinic a few days later.     

In the beginning

As I type this first entry, my 2 year old sits vibrating in my lap.  He is having his nightly airway clearance treatment, while at the same time taking his nebulized medications.  I contemplate where to begin and realize this is a story that needs to start at the beginning, so I will back things up 2 years and 4 months ago.

After trying to get pregnant for a year and a half, and having three IUI treatments in order to finally become pregnant, I got to hold my sweet little boy on August 23, 2011 after 23 hours of labor.  Like all new parents, I looked at this perfect little thing I created and knew it was all worth it. That very first day, as he lifted his head and looked around the room, I called him my little Monkey, and as the nickname has stuck with him and still suits him perfectly, that is what I'll call him here.

A few days after we brought Monkey home from the hospital I received a phone call.  A nurse told me that several things from his newborn screening had come back elevated.  One was about his thyroid, the other, Cystic Fibrosis.  She explained that it was likely nothing, the sample had been sent to a different city for analysis, and with it being such a hot summer, she was sure the heat had altered the results.  She asked if my husband or I had any family members with Cystic Fibrosis.  When I told her we didn't, she was sure everything would be fine after he was re-tested.  So, believing everything was fine, I took my week old baby to the hospital for more blood work, came home, and continued to live the glorious, sleep deprived, life of a first time new mommy.

The second phone call things started to get scary.  I was told that his thyroid was fine, but Cystic Fibrosis was still coming up as a possible problem.  She said another test would have to be done to know for sure.  This would be a sweat chloride test and couldn't be done until he was 4 weeks old.  She then said that his genetic test showed 2 mutations, and this was not a good sign.

My heart sank.

I didn't even really know what Cystic Fibrosis was, but the idea that something could be wrong with my perfect little Monkey made my blood turn to ice.  It felt like some horrible nightmare that I couldn't wake up from. 

The next few weeks were a haze.  I researched Cystic Fibrosis and prayed to anyone out there who might be listening that it was all a horrible mistake, that my perfect baby would prove to be as healthy as he seemed.  After learning that CF made people's skin salty because they didn't reabsorb the salt from their sweat, I began regularly licking his tiny forehead to see if I could taste any traces of salt.  The weeks leading up to his sweat chloride test were filled with worry and fear.

I will never forget one night shortly before he was 4 weeks old, when there was little on my mind other than the fear of what the sweat chloride test would reveal.  I was up in the middle of the night feeding Monkey and watching tv.  I was watching one of those tattoo shows, Miami Ink, or something similar.  Halfway through the show, it began to tell the story of a man who was getting a memorial tattoo for his son.  His son had had Cystic Fibrosis, and had died at the age of 20.  I clutched my sweet, perfect boy tight to my body and sobbed.  I knew in my gut, that the universe was telling me something.  I held Monkey close, rocked back and forth, and cried quietly for the rest of the night.