Wednesday, March 28, 2012

Tough Decisions

So we are facing a tough decision right now.  First of all, as some may or may not know Macy was born with hip dysplasia.  It is something that is common with FA kids.  When she was 6 weeks old she had to wear a hip brace (palvik harness) for 2 months.  Below is the picture of us getting home after getting it put on...let's just say she wasn't exactly thrilled to have her legs pulled up into a "frog" position for 2 months.  We were allowed to have it off for 1 hour a day to bathe her and that was it.  That 2 months was over Thanksgiving and Christmas as well.  A Palvik harness doesn't exactly make for the most traditional looking Christmas photo op!  But, we were happy it didn't have to be on for longer than 2 months.  Especially since I was busy doing neck stretches daily with her as well.  She also had muscular torticolis on the right side which often goes hand in hand with hip dysplasia.  Anywho, here's the pic.
After she got it off she had an x-ray done when she was 7 months old (2 weeks before her FA diagnosis).  They said her hips looked great.  They were corrected and all was well.  Well...apparently that's not entirely the case.  

She had a 1 year follow up scheduled so I called to see if it was really necessary to keep following up with Ortho since her hips were corrected.  When your child sees 10+ Doctors you want to get rid of as many as you can; but only if their not necessary anymore.  I always joke that once you see a Specailist you can never get rid of them.  They will try seeing you for "follow-up's" for the rest of your life if they can.  Sometimes it's necessary, but sometimes not.  So that was last week I spoke to them and they told me that actually she is missing an ossific nuclei on her right femur.  Basically that is what keeps the end of the bone in the hip socket.  They recommended an annual xray, because they said the end of the femur can flatten and cause hip dislocation.  Her hips can become painful and then could need hip surgery.  UGH!  Why didn't they say anything a year ago?

So the problem is...xray's are dangerous for kids with FA because of the radiation involved.  Macy had numerous xrays before she was diagnosed with FA so doing them annually now makes me cringe.  

I basically conceptualize Macy and children with FA (and everyone else too) as having an "empty cup" when they are born.  When the cup gets full that is when they get cancer.  Those with FA lack the proteins to repair DNA damage from radiation and all other toxins from the environment and everything else; so their cups fill so much faster than a non-FA person.  Non-FA bodies can drain the cup by fixing the damage, hers cannot.  So most (not all) non-FA people if they get cancer it is later in life; 50's, 60's, etc. but those with FA it is single digits, teens, and 20's (if they survive transplant).  So by allowing xrays we are just filling her cup even faster, and that really bothers me.  But on the other hand we need to keep an eye on her hips.  And if an xray is the only way; we are stuck in a difficult place.  I hate making these decisions.

Her hematologist always says we need to weigh the cost vs. benefit.  Which is true; but it is not always easy to tell which one outweighs the other.  Everything is black and white when it comes to FA. 

As we move about life I always have Macy's invisible "cup" in the back of my mind.  Constantly weighing out cost vs. benefit of everything we do.  Going outside in the sun her cup fills a little more; but the benefit of all the fun we have outside outweighs the sun's exposure.  Running to the store for a minute and forgetting to put her chemical-free natural sunscreen on her so I have to use "regular" and her cup fills a little more than if I had remembered.  Getting into an elevator with someone that smells of cigarette smoke instead of waiting for the next because we are late to her appointment...her cup fills a little more.  Letting her live as normal of a life as possible all the while trying to prevent her cup from filling as much as I can.  And trying to do this as "invisibly" as possible so it's natural and not noticeable to Macy.  It's mentally exhausting; but she is totally worth it.  As time goes on I am sure it will become second nature.  And when Macy gets old enough it will be her decision to make.

Macy's appointment with Orthopedics is in the beginning of May.  The specialist she saw before moved to Wisconsin so this will be someone new.  I want to see if an MRI (which does not have radiation) will be able to see what we need to see.  She will need to have an IV and be put under anesthesia for an MRI which means more pokes...but she has to have an annual bone marrow biopsy every year to check for pre-leukemia, etc. which she is put under anesthesia for anyways.  So I want to see if they can just do them at the same time.  If they can see what they need with an MRI; I'm not taking 'no' for an answer.

Macy has an appointment with an Audiologist next week.  Let's hope her hearing comes back good!

Almost vacation time....counting the days.

take care,

Wednesday, March 21, 2012

March Stats

Macy had appointments yesterday and today.  Yesterday was her regular 18 month well child.  She was not a happy camper even though they didn't poke her.  Even with that her Dr. said it was the happiest she ever saw her which made me realize they never get to see Macy happy which she is...98% of the time.  I hope they don't think she is upset like that all the time because that is definitely not her.  Oh well.  So her weight was really hard to get because she had a death grip on my arm and would not let go to be weighed.  She screamed and had a total meltdown when the nurse tried to take her from me so they just let it go.  They were able to weigh her today though and she is about 19.5 lbs. which puts her in the 1st percentile.  Her head 17.75 inches which is about the 14th percentile, and her length 31 inches which is the 30th percentile.  

All in all the appointment went well, and there are no concerns.  Macy is meeting her milestones (even though she started walking a little later it was still in the range of what normal is) and is healthy.  Even though Macy has shown absolutely no indication of any hearing issues; it is common for children with FA to have hearing problems so we arranged to have Macy's hearing checked once per year.  So we will be doing that soon.

Today she had her hematology/oncology appointment which is the important one.  Her bloodwork came back awesome!  Now that we know Macy is FANC-A, her Dr. said her bloodwork should remain stable for atleast a few more years.  That's a nice relief, and who knows; maybe they'll find a cure by then.  Her bloodwork stats are as follows:

WBC (white blood count)  Normal range: 6-18, and Macy was 11.46

ANC (absolute neutrophil count) Normal range: 1.5-6, and Macy was 1.6

Hemoglobin Normal range: 10-14, and Macy was 13.3

MCV (mean corpsucular volume--size of red blood cells) Normal range: 74-90, and Macy was 88.2

Platelets Normal range: 140-400, and Macy was 230

ALT (measures liver enzymes)  Not sure what the normal range is because it was the first time she had it done.  Hers was a 22, and I am assuming it is in the normal range since nothing was said.  

Retic Absolute (baby blood cells)  Not sure what the normal range is but Macy's was a 52 and her Dr. said that was excellent.

So all in all Macy is doing great!  She is loving the warm weather outside and we are excited to leave for vacation in a few weeks.

take care,

Tuesday, March 13, 2012

Bloodwork tomorrow...ugh!

We tried to avoid an additional day of needle poking but there is no way to avoid it.  Tomorrow Macy will go in to have her blood drawn for her gene sequencing.  I really wish we could have piggy-backed it with her appointment next week where she will also be getting blood work.  However, next week she will already be getting it done for hematology/oncology, nephrology, and a research study so there is no way we can add an additional 5cc's for the gene sequencing.  It will be luck that will get us enough blood for what is already scheduled next week so tomorrow is a necessary evil.  

I am most definitely not looking forward to tomorrow. There is a lady and a young man who are AWESOME at drawing Macy's blood (everyone else; not so much which involves numerous stabs, digging with needles, and bruising that lasts almost a month; not to mention lots of screaming on Macy's behalf) so let's hope we get one of them.  I am almost to the point of requesting them when we go.  I am not sure if we can do that, and I don't want to be rude; but it makes a HUGE difference on who draws her blood.  And since she gets it done so often, and has become so anxious about it (almost to the point of a panic attack); I am guessing it will probably be necessary in the future.  Next week for her appointment I asked Adam to take off work and be there, because it is a different lab.  It is in the hematology clinic, and her blood draw did not go well at all last time so I need him there to help me.  

Onto some good news
Macy is still eating great.  We are still giving her the OTC prevacid and it is all going well.  Her reflux is well-controlled, and on top of that she is a walkin fool!  :)  In less than 3 weeks she went from taking her first steps to now walking everywhere.  She can bend down and pick things up, carry things while walking, and even walk over rough terrain.  She loves her new-found freedom, and we love it too!  She looks so cute walking around, and I don't even mind that she is into absolutely everything.  Well, except the dog food.  :) (gross) 

Adam and I 'finally' changed her G tube button for the first time last Saturday and it surprisingly was pretty easy.  To the point where if I needed to I could do it by myself.  Another plus is so far we have gotten through this entire winter without any of us getting sick; including Macy which is the most important.  Sometimes I think when we go out to restaurants people think we're nuts because we have our own placemat for her, and cover that goes over the highchair so she doesn't come in direct contact with it, etc.  But so far it has served us well keeping her away from all those germs.  Despite her FA; she is a very healthy little girl right now.  Next week hopefully all her numbers will be normal and we can relax for a couple more months.

In April/May is probably when we are going to actually start our IVF journey.  There is some pre-testing that is required on the IVF side of things before we actually "start start".  So that will be a good time to do them.  I have gone back and forth on if I wanted to share/blog our IVF experience.  From what I have read and from those I have spoken to it can be a very emotional and difficult journey at times.  I think I will probably end up sharing our experience in the end for a couple reasons: 

1) when we were looking into it it was very difficult to find any "real" experiences online to read about to try to get a feel of what it is like including the challenges people faced or obstacles that stood in the way of having a successful experience (meaning resulting in a live birth).  So if our experience can help someone else decide if it is for them or not then it is a good thing.
2) I think it will be good record keeping for us on our own journey, and 
3) it will probably be cathartic for me especially during the stressful times.

I do have some awesome pictures of Macy but they are not on this computer so I will have to add them later.  Hopefully I will have time sometime this week.  We have been spending so much time outside because it is so nice...and it is suppose to be 80 next week.....wowwweee!  Might have to get the boat out early this year!  

take care,

Wednesday, March 7, 2012

Good Surprise

I just wanted to leave a quick update. I found out today that our insurance company approved our preservice request for Macy's gene sequencing. YES! I was so shocked on the phone because we have always had to do appeals. This was so easy for once and is our last step (besides our carrier testing after). I think I am still in shock they approved it without a fight. But I'll take it! Take care, Jenn

Tuesday, March 6, 2012

March Appt.'s

So a lot has been going on in the past couple weeks.  We found out Macy's is complementation group A. (whew!), and so we are on to getting a pre-authorization approved to insurance for her gene sequencing.  They will deny it, and we will send an appeal hopefully in the next week or two.  Gene sequencing takes a lot less time than the previous testing so that is good.  Then we do Adam and I's carrier testing and that's it.  I am confident we will have everything we need to get started by July.

The biggest news lately is that Macy is full-on walking now.  She took her first steps about 12-14 days ago, and she went from 2-4 steps at a time to now walking around the house no problem.  I have no doubts she will be completely caught up in no time.  Luckily Adam was here when she first started so he saw her first steps, then he was in California for a week for work, and when he got home Thursday night she had progressed so much he couldn't believe it.  She is probably walking 90% of the time now and crawling 10%.  Go Macy!  :)  She is also still eating very well so that is awesome!  She ate part of a grilled cheese sandwich the other day and it was so great to see.  She just doesn't seem very interested in drinking more than 3-4 oz. of liquid a day so we are still supplementing her liquids (Vitamin D milk and water) through her G tube.  Which reminds me, we have to change her button soon, because we keep putting it off.  Never did it in Feb. so we really should change it soon.  Maybe this weekend.  

Macy does have a couple appointments in March.  At her HemOnc appointment she will get all of her labs done, along with her Nephrology labs.  Let's hope all of her numbers are still in the normal range.  Then we'll have 3 more months of breathing a bit easier.  We are participating in another study so she will also need to get blood drawn for that as well.  This study looks at cancer trends in patients and families of patients with an Inherited Bone Marrow Failure disorder.  I figure anything we can do to help further research the better.  Macy also has her 18 month well-child visit this month!  I am interested to see if she will still be in the 2nd percentile for weight or not.  In the next month or so she will finally be big enough I think to be in a forward-facing car seat.  She is around 20 lbs. now.  

We have been getting ready for our trip coming up, and are very excited to get away and relax.  Macy has been getting more and more acquainted with the Princesses and I think Belle is her favorite right now (beauty and the beast).  I can't believe it's been 3.5 years since we've been on certainly feels like it, or longer.  We got lucky and have a non-stop flight there and back so hopefully it won't be too bad (I hate flying). 

Spring is around the corner!  :)

take care,