Friday, December 30, 2011

Kidneys & onto 2012

Macy had her final appointment of 2011 on Wednesday!  I counted on the calendar that we spent 62 days in the hospital/Dr. offices in 2011.  I really hope it is much less in 2012!  

So the appointments she had Wed. were a kidney ultrasound.  She has those every 6 months to make sure her kidney(s) are growing correctly.  She does technically have 2 kidneys, but they are fused together and both on the right side of her body (called a horseshoe kidney).  We then met with Macy's kidney specialist (who is super nice by the way), and she said they are looking great! Her right kidney has always been larger than her "left" kidney; but her left kidney is catching up in growth and they are both pretty much the same size now and are just above the 50th percentile so that is really good news!

Since we were already scheduled to get Macy's blood draw after that appointment for the HLA typing; her Dr. agreed for her nephrology bloodwork to be done in March with her hematology/oncology bloodwork.  And for once we got really lucky with Macy's blood draw. All it took this time was 1 poke, and somehow they hit the perfect spot and her blood flowed really well.  They got the 7cc's they needed easily.  I was SO happy and relieved!  Unless something crazy happens; we have no appointments until March 2012!

December seemed to fly by as tomorrow is New Year's Eve!  We had a wonderful Christmas, and are wishing, hoping, praying for 2012 to be a great year for us.  All we want is a healthy Macy and family; and if all goes according to plan a baby on the way that is FA free and a donor match for Macy.

Here are some pic.'s
Modeling the white headband Christmas Eve morning before putting on her dress

Xmas morning...out of all the toys she received, she only wanted to play with the sailboat that came with her water table

Thank you Angela!  Macy loved everything!

Macy playing with her water table
Even though 2011 has been the hardest year of my life; I can't say it has been the worst.  The worst year would mean involving Macy somehow and those two words "worst" and "Macy" just don't belong in the same sentence.  I guess I can say that the news we received is the worst, and that we've had the most severe stress that I ever could have imagined.  But at the same time anything with Macy involved is the best, brightest, and happiest of my life.  She is everything to us, and we love her more and more each day!  

Here's to a wonderful 2012!  We never know what cures tomorrow may bring!

**oh yeah, and we are 10 days post the elimination of zantac, and so far so good.  Let's hope it continues!

take care,

Tuesday, December 20, 2011

Stats, HLA Typing, and meds

So Macy had her 15 month well child visit yesterday!  It went pretty good.  She only had to get 1 shot (whew!), and has completed all of her vaccinations until she is 4 years old (yes!).  These were her stats:  
Weight: 2.7 percentile 
Head: 5.8 percentile 
length: 28.1 percentile

Believe it or not she is actually improving on her weight.  For a while earlier this year she was below the 1st percentile and has been gradually climbing.  And as you can see she doesn't have a huge head which is very common for kids with FA.  Her weight and head circumference are pretty proportional; but her height has always been up there.  Skinny and tall because she has long legs.

Macy's Pedi agreed to increase Macy's dose of prevacid above what she normally prescribes to see if that would help compensate for not giving her zantac.  We have tried a lot in the past to take her off zantac, but her reflux symptoms always come back with a vengeance.  Today was her first day of the increased dosage and no zantac.  Let's hope this works.  

FYI: For non-FA kids there is nothing wrong with zantac.  But for Macy; she shouldn't be on it because 1) It has alcohol in it which is not good for those with FA, and 2) it suppresses the immune system which is also not good for those with FA so we need to get her off of it.  When she first started it in Feb. we didn't know she had FA.  She was diagnosed in May.  We have unsuccessfully been trying to ween her off it since, but since her reflux always came back really bad we had no choice but to start it again.  Untreated reflux can cause damage to the esophagus; and can lead to esophageal cancer; which Macy is already at a much higher risk for than the general population due to the FA; so with either choice it is a lose/lose situation so lets hope this works.

We have decided to go ahead and schedule our HLA typing.  We are getting our blood drawn next week when Macy has her ultrasound and nephrology appointment so we will be at the hospital anyways.  After this Thursday Adam is off work on holiday vacation until Jan.3rd so we are getting ours done as well.  We are not really counting on either of us being a match for her (there's about a 25% chance), but we of course need to check because it is possible...just not probable.  But atleast there is a chance...anything is possible!  

Also, we need to know my HLA type and Macy's for the PGD.  The reason they need to know mine is because when they take the biopsy of the embryo; you are talking a super teeny tiny single cell they are removing.  Sometimes a cell from the mother can contaminate the sample so if they have my HLA type, they can tell if it's hers or mine just in case contamination has occurred.

I have lots of cute pictures of Macy today:

Chocolate face!

Okay, so I had to add a picture of our dog, Bela.  Can't you tell she has such a hard life!

All smiles before her Dr. appointment
Love those dimples!

This is how Macy wakes up every morning...seriously; I don't think she has ever woke up crying in the morning.  Always so happy to start the day (and see mommy and daddy of course!)

That million dollar smile again!

Playing peek-a-boo with her blanket

Getting ready for Christmas #1

If you can't tell we love the flower headbands

Taking a moment to snuggle with Adam before opening another present

Biting the hand of her new baby doll
Happy Holidays!

Thursday, December 15, 2011

FANC genes

So we went in Monday morning and had Macy's blood drawn.  Luckily we were able to get what we needed for her regular blood draw (1-2cc) and research (needed 5cc and got 4cc).  After tapping out the veins in both of her arms; we decided to call the research lab and see if 4cc's were good enough before we started on her feet.  I am so glad they said they could do 4cc because I was really dreading having to poke Macy more than they already had.  I know I've said this before but her blood flows soooooo slow.  I am honestly surprised they got the extra 4cc.  The Dr.'s office has not called yet with her results, so I will probably call tomorrow during Macy's afternoon nap and find out the numbers I need to know.  Her results from her last blood draw 9/22/11 were as follows:

*WBC (white blood count--needs to be between 6-18, and is what fights off infection) Macy's was 16.95
UPDATE: 12/12/11 Macy's was 9.64

*Hemoglobin (needs to be between 10-14) Macy's was 14.2 which is a little high. 12/12/11 Macy's was 12.6

*Platelets (needs to be between 140,000-400,000, and is what makes your blood clot when you bleed)  Macy's was 253,000.  12/12/11 Macy's was 249,000

*ANC (absolute neutrophil count--needs to be between 1.5-6, and are a specific type of white blood cell that fights infection)  Macy's was 4.97.  12/12/11 Macy's was 1.58...that went down quite a bit and is barely in the normal range

*MCV (mean corpuscle volume--needs to be between 74-90, and measures the average volume of your red blood cells)  Macy's was 94.2 which means her red blood cells are a little larger than they should be.  12/12/11 Macy's was 87.9

**All in all still considered good but since her first draw in May I can definitely see a downward trend.

She also needs an ALT which measures the enzymes in the liver.  I don't have this info. yet, because I am not sure if they included this test before or not.  I will have to talk to her Dr. about it.  Even though a couple of her numbers are a little high she is still considered to be doing very well.  

We are looking forward to celebrating "christmas" this weekend with my family, and the following weekend christmas eve with Adam's side of the family.  We alternate years of whose side we spend "real" christmas with since Adam's family is about 2.5 hours or so away (longer in snowy weather) so we cannot do both in one day.  It's nice for Macy now because she gets 2 christmas's...well 3 kinda because we always stay home for christmas day and do our own as well.  One present we were not expecting was that Adam was rear-ended this morning on his way to work.  Luckily no one was hurt, but is still a big headache to deal with.

No news on Macy's complementation group results yet.  We should hear something in the next 4-6 weeks.  I am on pins and needles.  I really hope she's FANC-A; which is the most common.   Did I ever explain what that means?  I can't remember.  It's kind of long and complicated, but I'll try to do a really short summary.  

Basically, everyone has the FANC genes.  These are what send the signals in the body to repair damage in the blood.  Right now there are 15 known FANC genes.  FANC-A is the biggest.  Everyone gets continuous damage in their blood cells that result in these little breaks in their chromosomes.  This damage comes from many things around us.  Toxins from the food you eat and water you drink, alcohol including products with alcohol in them, smoke, the air, chemicals in toys and your clothes, etc.  and radiation from the sun, microwave, xrays, etc.  There are even toxins, etc. that are produced from your body just from being alive.  

For most people, your body instantly starts repairing these breaks, which prevents you from getting cancer, and having your bone marrow fail.  Children like Macy whom have Fanconi Anemia have a FANC gene that does not work therefore, the signal to repair breaks does not get through.  Instead of their body fixing and neutralizing these toxins/radiation, their body has to find other ways to try to repair itself which is ALOT slower, and not as effective.  So over time, all of this builds in their body and they get cancer very young, and their bone marrow fails.  This usually happens by the age of 10 years old.  This is also why many children with FA have a range of birth defects.  When the embryo is forming certain signals do not always get through because of the FANC gene that does not work.  For example, with Macy the signal for her hand plates to form, and kidneys (which form around the same time-week 4-6) did not get all the way through so she has a horseshoe kidney and her thumbs are under-developed.

So, I guess that wasn't a short summary, but I tried.  But that kind of explains why we have to be careful about Macy being in the sun, being around people that smoke, using any products with alcohol in them, and trying to keep her from getting sick as much as we can, etc.  All of this damages her system and leads her closer and closer to bad things.  We try our best to find a balance between keeping her safe and letting her live a normal life.  It's not always easy knowing what that is, but we do our best and try to take it a day at a time.

Anyways, onto the best part...

Here are some recent pictures of Macy:
Macy loves playing with her fridge phonics

Her favorite thing to do right now is take the letters off the fridge and throw them under the stove...hehehehe

She loves reading her own baby book

Trying out her winter hat

Pretty in a serious look for the camera
I have a bunch of really cute pictures I took of her today where she has her beautiful huge toothy smile.  I haven't downloaded them on my computer yet; but will try soon.

Happy Holidays everyone!


Tuesday, December 6, 2011

T minus 6 days

So we are T minus 6 days to Macy's blood draw....ahhh!  I am starting to feel anxious about it already.  Adam and I are going to be getting our blood drawn as well so they can test it.  Since we are both FA carriers they need to know what specific mutation we both carry.  We need this for the PGD (pre-genetic determination) as well.  Now that Adam will be at the blood draw I am feeling much better about it.  Something about having back-up and not having to try to hold Macy down and calm her alone is a big relief.  Still can't wait till it's over though!

Our IVF consult went well yesterday.  Better than expected actually.  It gave me hope that we can actually pull this off.  The Dr. said given our age and medical history there is about a 60% chance of us getting pregnant per cycle with a 2 embryo transfer. It is a bit higher than usual because we do not have any infertility issues.  The hard part is getting to that point.  Getting enough embryos that meet the requirements to be transferred (FA free and an exact donor match for Macy) is not easy.  Even if we get 20 eggs we will be lucky to have 2 or 3 meet the criteria.  It is just chance.  He said he may be willing to transfer 3 per cycle if we wanted.  Hmmm...that means possible triplets so we need to think about that one.

So these days we are mostly focused on getting all of our testing done that is needed to do this.  I am guessing everything will not be ready until spring.  Genetic testing takes a LONG time.  We are still waiting on Macy's complementation group testing results.  They took her blood sample for that in the middle of August.  We are hoping to hear in January/February those results.  Then they have to sequence that gene depending on those results which takes 1-2 months.  Then test Adam and I's samples to find our carrier mutations, and then do HLA typing on Macy, Adam, and I.  Everything is contingent on the results previous so it takes a while (except the HLA typing).  After we have all that we can start the PGD.  It takes 4-6 weeks for them to "build" the test for our family; then we get the green light to start our meds for the IVF cycle.  Our Dr. said he is going to use the long protocol for me which is 2 months long.  That basically means I will need to start the lovely daily shots in my stomach 2 months before the egg retrieval month.  Fun stuff!  I am not scared of needles but they do bother me a little so giving myself multiple injections daily is going to be interesting.

I am such an impatient person as it is.  So you can only imagine how much all of this is driving me nuts.  Waiting is not a forte of mine.  Or things that are out of my control.  And EVERYTHING related to FA is waiting and out of my control so it is definitely something new I am having to learn to deal with.

Can't believe Christmas is only a couple weeks away.  We have been so busy with everything going on Christmas just seems like a side note right now.  Isn't it crazy how wonderful Christmas is when you are a kid; and when you are an adult the "idea" of Christmas is great; but actual Christmas is okay.  However, it seems like once you have kids the magic of Christmas comes alive a little more just seeing it in their eyes.  I love how excited kids get.  I think that is why Adam and I love Disney so much.  Everyone acts like a kid there.  It is nice to take a break from adulthood for a while (too boring and serious).

take care,


Thursday, December 1, 2011

Blood, Appointments, and Giving!

So we got pretty lucky in November that Macy only had 1 appointment, but that will catch up to us a little bit here in December.  She has a blood draw, a kidney ultrasound, an appointment with her Nephrologist, and her 15 month well-child.  The one I am really not looking forward to is Macy's blood draw coming up.  As she gets older; it gets harder to keep her still and calm.  Last time  (3 months ago) it was sort of a disaster that ended in her blood spraying all over, and a bruise on her arm for about 2 weeks so I am not looking forward to it to say the least.  Not to mention any other appointments she has for atleast a month afterward she'll get hysterical if a Dr. comes near her.

We signed up for the International Fanconi Anemia Registry (IFAR).  They need 5ml of blood as well as her normal blood draw so they need to try to get about 10ml's of blood this next time....good luck with that.   She always flows so slow we have a hard time getting the 3-5ml we usually need so I guess we will see if we get it.  But it is important to get her sample to them so they can maybe start the gene sequencing.  That is our backup plan if Insurance doesn't cover it.  The registry will do it for free since it is for research; but there is no guarantee they will analyze it any time soon as they are on their own research timeline and not ours.

We had a nice Thanksgiving with the family.  Macy had fun playing with her cousins.  She loves other children, and is usually in awe of them whenever she is around them.  Her gross motor skills are coming along too!  She is at the stage where she is comfortably cruising furniture, and can stand solo for a few seconds.  I am very proud of her and the progress she is making!

Christmas is only a few weeks away; I can't believe it.  I do have all of my shopping finished so that takes a lot of anxiety off for a bit.  Thinking about Christmas though reminds me that one of my favorite fundraisers is coming up Dec. 15-17.  Every year for the past 10 years, 105.7 FM has the "Think Outside yourself" radiothon to raise money for the Devos Children's Hospital Foundation here in GR.  When I first heard this fundraiser it had me in tears.  Thinking of all the children and families that spend so much time in the hospital for a variety of reasons.  The stories shared were so sad.  Little did I know back then that we would be one of those families now.  

Devos does so many great things for kids to try to make their stay comfortable whether they are inpatient or outpatient.  I don't think people realize all the little things and supplies they need: from the LED lights on the ceiling in the ultrasound room to keep children's attention while they are getting poked and prodded, the light-up toys they use to distract them while getting needles poked into their little bodies or the crib toys they let us borrow while Macy was in the hospital.  All of these things are possible due to donations; and it is the little things that help tremendously. There are families from all over the state (even out of state) that have children there long-term.  A few gas cards or a meal voucher makes a huge difference.  I remember the first time Macy was hospitalized there.  We were so distraught with everything that was going on.  Having a meal voucher was a big deal.  When she arrived it was by ambulance, and even though it was non-emergency (she was transferred from another hospital and since she had an IV it had to be done via ambulance) I will never forget what it looked like seeing her in her little infant car seat being strapped to a stretcher to be put in the ambulance.  Anyways, I hope they continue to do what they do for kids, because it is a great thing.

Here are some recent Macy pics!

Getting ready for Thanksgiving!

Loves standing up!
The weather is getting colder and colder and I am not looking forward to snow.  It gets hard to get out of bed in the morning when you're nice and toasty under the covers.  Macy has also been super quiet in the mornings.  When she wakes up she doesn't cry or make a peep.  She sits up and plays with a toy or her feet, or her blanket.  Sometimes I will wake up out of a dead sleep and look at the monitor and there she is playing in her crib wide awake and I have no idea how long she was awake for because she is so quiet I don't hear her.  I guess that's a good thing!  Anywho...

Oh yeah, one more thing.  Our first IVF consult appointment is Monday.  I hope it goes well.  

take care,