Tuesday, May 31, 2011

Home Sweet Home!

We just got home from 4 nice days in Mackinac and Mackinac Island!  We had a great time, and Macy had so much fun; but it is really nice to be home!  I have lots of great pictures and will pick out a few of the best to post!  We ate WAY too much fudge; but the Island's fudge is the best around so it's hard not to pig out!  We were a little worried about the 5 hour drive because we took Bela (our German Shepherd) too!  But she did awesome, and she rode the ferry over to the island for free so that was nice!  Macy also did wonderful on the drive there and home.  She played with her toys in her car seat, took a nap, and just chilled out and looked out the window.  No crying at all!  She is such a happy girl.....I don't know how we got so lucky!  It was so nice that Adam and I's extended families were able to accompany us as well!  Both sets of Macy's Grandparents, Aunts and Uncles, and cousins on both sides were also there; and I think everyone had a lot of fun!  It is nice to get away and forget about our worries for a little while!

Macy has had her feeding tube out for couple weeks now and was doing wonderful.  This trip kinda messed up her eating so I am hoping she will go back to eating decent now that we are home.  She has a couple appointments coming up next week Monday, Wednesday, and Thursday.  I believe they are her hand surgeon, her echo (heart) & kidney ultrasound & kidney appointment, and her 1st officially feeding therapy appointment.  Let's just hope they really got someone, and that they don't cancel on us again.  Also, I am not sure if I mentioned this but the Pediatric Surgeon from Kzoo called and we made an appointment for the end of June for us to meet with them to see if Macy's needs a stomach tube or not.  I am hoping she will continue eating okay and won't need one.  But she kinda yo-yo's back and forth so we will also meet with a Dietitian to see how much she exactly needs to be eating to squeak by for now.

Pictures soon to come in the days to come!  take care everyone! 

Friday, May 27, 2011

Autosomal Recessive Disorders

I know many friends and family are still a little confused on what an "autosomal recessive" disorder is; and how you get it.  I am going to try my best to describe what that is here.  I hope it answers a lot of your questions.

Okay; so as many of you know already; each person inherits 23 pairs of chromosomes.  1 pair from mom, and 1 pair from dad.  These chromosomes make up who we are.  On these chromosomes there are 20,000 plus genes.  The genes determine more specific traits such as what color eyes we have, how tall we are going to be, etc.  As our Geneticist put it: if you were a book; your chromosomes are the pages of the book, and your genes are the words that are written on the pages.  So for example, if there is a gene in your family that gives the trait of blue eyes......the chromosome is responsible for making sure you have eyes and that they work, and the gene is responsible for where your eyes are placed on your head, the shape, how big they are, and if yours are blue or not.  Now what determines this.....dominant and recessive genes.

Each person has dominant and recessive genes that they carry.  For all the specific traits about us.  Male baldness, a hairy back, a bump in your nose.  Those are all traits.  Now back to the blue eye thing.  If both of your parents have blue eyes; you are not guaranteed to have blue eyes.  This where recessive traits come in.  You may have a grandparent with brown eyes, etc.  So even though blue eyes are the dominant trait; brown may be the recessive trait that your mother carries.  Say your father also happens to be blue eyed but carries a brown eye recessive trait too.  This means there is a 25% chance that each child could have brown eyes.  The same is for Macy's disease.   The recessive trait is where her disease lies.  All of her chromosomes are normal (all of her pages in her book are there---there are not any duplications or deletions which is what causes syndromes like Downs Syndrome, etc.) but the words written on one of her pages is not normal.  And it happens to be the one that is responsible for the cluster of proteins that repair DNA in your blood; so it leads to bone marrow failure and cancer.  This is also why some children are born with anomalies.  Since DNA cannot be repaired in the blood; things can go wrong when the embryo is forming.  In Macy's case; her kidneys and thumbs did not form correctly.  She is actually pretty lucky because many kids are much worse off.

To break it down even further; there have been 15 genes identified on that particular chromosome that are responsible for FA (so 15 different words on that page if not correct can cause FA).  Each of those 15 groups are called complementation groups. We need to find out which one is the one responsible for Macy's FA.  Even though each one is Fanconi Anemia; each type or complementation group is prone to different types of cancers and complications, etc. so it is good to know which one she has to better her course of treatment.  FANC-A is the most common, followed by FANC-C and FANC-G and so on.  For example, FANC-D is more prone to breast cancer than the others so this info is good to know because if she has that kind; me being a carrier would also increase my chances of breast cancer.  The more we know; the better we can screen for particular complications.  Now to the part on how she got it.

Our Geneticist said that everyone carries about 8-10 diseases on our recessive genes ( too!).  Think of a disease as merely a mutation on a gene---a word that is not written correctly on a page.  Everyone has them; no one's are perfect and most are not significant enough to affect us unless two of the same are put together.  My husband and I just happen to have the same page with the wrong words, and therefore, carry one of the same diseases.  Fanconi Anemia.  It is very rare, and we are both carriers, and happen to be the one's to find each other and have a baby.  So each one of our children would have a 25% chance of having the disease. The disease will only show up if BOTH parents are carriers.  That is why it has never shown up in either family before.  Even though one of Adam's parents is a carrier, one of mine; one of each of our grandparents, etc.  You won't have the disease itself unless both parents are carriers.  And even then it is a 25% chance with each child.  Macy is our only child and she just happens to be that 25%.  

So, Fanconi Anemia and all other recessive disorders are not something you can "catch" or develops later in life.  Although complications may not show up till later in life for some; it is something you are born with.

We are very lucky we found out when we did.  We were planning on getting pregnant with our 2nd child this month.  Now that we know what we know; we are not willing to take a chance because 25% is high when it comes to the seriousness of this; so we are going to have to find another way to have other children.

I hope this answers some of your questions on her disease.  And I hope everyone has a great weekend!

Tuesday, May 24, 2011

Hematology/Oncology Appointment

We had Macy's first hematology/oncology appt. today.  She got a full blood workup and her numbers look sign of bone marrow failure yet so that is good.  Macy did so great....she cried (of course) when the needle went in but by the time the Dr. came in she was already calm and playing with her toys.  The Dr. said her numbers should look good for a couple of years before we need to start worrying.  I hope that's true.  We scheduled for her first bone marrow aspiration to be done in about 4 months.  This is where they stick a needle into the hip bone and suck out bone marrow to test for signs of cell damage and leukemia.  This will need to be done annually at the least.  

We found out that they will not do a bone marrow transplant until she is in complete bone marrow failure....I was a little un-easy about that.  I know there are many risks with the transplant itself; but to me it makes more sense to do it when she is somewhat healthy still.....not in complete failure.  But oh well...there is nothing we can do about that except make sure we have a donor lined up for her so when the time comes it can be done quickly if needed.  

They are not going to do her HLA type testing for a while because they need at least 10ml of blood; and that is A LOT of blood to take out of a baby so we need to wait a while.  Once it is done we will get the results within a week or two; so we will probably do it whenever we find out what complementation group she is in (6months-1 year from now).

We are canceling the xray she has scheduled of her spine.  There are no concerns at this time; it was just one of those things we were checking so all of her systems were checked.  This was scheduled before we knew she had FA; and she cannot have xrays anymore or CT scans due to her very high susceptibility to many cancers.  I wish we knew this before she had all of her xrays and live xrays done before.

Afterward we went to Red Robin for lunch and Macy was soooo cute in the little highchair at the end of the table.  She LOVED it!  We will need to take her out to eat more often.  She wore such a pretty green dress today with little white polka dots, a white cardigan, and a pink ribbon in her hair!  So cute!

On a side note: She has had her NG tube out for 9 days and she is doing pretty good "dream feeding".  She has started eating 3 and sometimes 4oz. at a time.  This is a big deal since before that she would only eat 2 to 2.5oz. at a time since she got out of the hospital in the beginning of March.  I really hope she continues to do well so we don't need to the put the tube back in.

I am hoping we can go out and enjoy this beautiful day we have.  I am blessed that my husband has such a great and flexible career that he is able to work from home when needed, and come to these appointments with me and Macy!  Macy's upcoming appointments are June 6th with her Hand Surgeon; June 8th with Nephrology (kidney and heart ultrasounds); June 9th with Feeding Therapy; and June 17th her 9 month well-child.

Monday, May 23, 2011

First Hem/Onc Tomorrow

First off we had a pretty good weekend!  Some family from up north came to visit, and it was really nice to see them.  The weather was beautiful and I love taking Macy outside for walks.  I can't wait to de-winterize the boat and get out to the lake with her.  The lake is one of our favorite places and we will definitely be spending a lot time there this spring, summer, and fall.
Currently my favorite picture of Macy....all smiles of course!
Tomorrow is Macy's first hematology/oncology appointment at the children's hospital here.  I know they will be taking blood (I hate her having to get poked all the time), and hopefully they will be able to answer some questions.  I know they will be doing CBC's regularly because once her counts start to go down that is the first sign of bone marrow failure.  I am hoping we will have many years before she has an abnormal CBC.  Most kids are in complete bone marrow failure around the age of 7; so I am not sure what age it usually begins.  If all goes according to plan and is successful; Macy should have her transplant long before this time; then we just have to watch out for all the cancers.  Those with FA are anywhere from 700 to a thousand times at a higher risk of developing many cancers and develop them decades earlier than the general population.    The most common are Leukemia, Head and Neck cancer, GI cancers, and Reproductive organ cancers.

Anwho; we are trying to stay positive and I am doing a lot better at not thinking about it all the time.  We are trying our best to just live our lives to the fullest and take one day at a time.  I will update tomorrow on how her appointment goes.  Lets pray they are able to get a vein the first time they try to take Macy's blood.  Her veins are really hard to get and she usually has to be poked 4 or 5 times....poor thing!
Me & Macy girl....she loves the front carrier!

Friday, May 20, 2011


I know I am breaking my Monday rule, but I can't believe what has happened today.  I am totally frustrated.  It seems like so many things can fall through the cracks in the medical world if you are not on top of it every single second.  So here's what going on: Macy needs to see a Pediatric Surgeon to look into getting a stomach feeding tube put in.  A referral was made and I was awaiting an appointment call.  Meanwhile, she was supposed to get some NG tubes from a medical supply place so we can use those if needed, and she was supposed to see a feeding therapist to work on getting her to eat.  2 weeks ago she had her evaluation for feeding therapy.  I was told she needed to go 2 times a week so we set up all her appointments for the month of May.  Before her 1st appt. (not last Monday but the Monday before) they called to cancel all of her appointments because her therapist went on Maternity Leave early and they said they didn't have anyone to take on her patients yet.  Still no word......that is frustration #1.  

I received a call last night from an automated line saying Macy had an appointment with a Ped. Surgeon Monday.  I had to call today because I never spoke to anyone so I didn't who it was with or where their location was.  Much to my surprise they said they do not participate with our Insurance Company so we would have to pay for her office visit and the surgery out of pocket.......I don't think I canceled the appointment.....frustration #2.

Since her feeding therapy has been canceled until they find someone, and there is no Ped. Surgeon she is going to be seeing any time soon I figured we better check on those NG tubes.  I called the place and surprise surprise....they don't have anything on record of her prescription for the NG tubes..........frustration #3.

UGH!  So I called insurance and they gave me 1 Ped. Surgeon from Kalamazoo out of Bronson that is in network.  I relayed that to Macy's Pedi's office, and since I had insurance on the phone I asked how the pre-authorization was coming for her much needed genetic testing.  They have not even received anything from the genetic's office requesting a pre-auth. yet.......frustration #4.
The genetic counselor that is supposed to be doing it only works Mondays & Wednesdays so I will have to call her Monday and find out what is going on.  So basically we have no feeding therapy, no NG tubes, and no appointment to see a Ped. surgeon to discuss getting a stomach tube.  It is so important that Macy atleast stays hydrated because she has kidney issues.  I am really scared if this is what the future has to hold with Macy's medical care.  I must add though that Macy's Pedi is pretty great.  She really cares about Macy, and is good at staying on top of all of Macy's appointments and referrals, etc.  I just hope that something goes our way soon.

On a good note: Macy's hand surgeon called and we are meeting with him in about a week and a half.  He wants to start talking about when we are doing Macy's hand surgeries.  I am hoping it will be sooner than later.  It is so sad to see how hard she tries to pick things up (especially small things) and it keeps falling out of her hand because she doesn't have a thumb that works.  But on the flip side (weirdly enough) I am going to be kinda sad to see her little "floppy" thumb go.  It is a part of her.....but it is more important to have a fully functioning hand.  I will go more into detail on Macy's hand surgery later.

I hope everyone has a great weekend!  Adam is home from New York now so I am excited to get a full night's sleep tonight!

Monday, May 16, 2011

Happy 8 month Birthday Macy!

Today my sweet little girl is 8 months old!  I can't help but think back at how much has happened in these last 8 months.  I have had the happiest days (when she was born and many times after) and the saddest days (when we found out she had this disease).  What an emotional roller-coaster it has been.  Even with everything that is going on I wouldn't trade Macy for anything in this world.  I love her so much; and just seeing that smiling face everyday makes everything and anything we have to go through worth it. 

I love putting bows in her hair!

The last couple of weeks have definitely put everything in perspective.  All the things that matter in life are family, and that they are healthy.  Everything else is small potatoes compared to that.  And to think before we received this news one of the biggest dilemmas in my life was trying to figure out what new handbag to use.....seems so silly now.  Of course we were dealing with Macy's kidney, thumb, and eating issues but none of them were life threatening.  The Dr.'s kept telling us; "atleast she is healthy", and we agreed.  They were all things we had to work through but could be fixed; but this cannot be fixed.

Anyways, I took Macy's feeding tube out last night.  I was able to dream feed her her normal 4am feeding but she woke up for her 7am feeding so she didn't eat anything.  She did pretty good with her "high chair" session today and happily opened her mouth for an empty spoon, and for a little taste of bananas a few times.  I feel like we are making progress; it will just take some time.  I was also able to syringe feed her 1oz. of formula while she was awake for her 10am feeding.  That would be fine if it didn't take 30 min. to feed her 1oz. bc I have to feed her 1ml at a time.  Not very efficient but atleast it is something for now since she won't drink out of the bottle if she is awake.  She still views her Sippy Cup as positive and so far we just keep a little bit of water in it.  Hopefully she will start drinking out if it soon!  She is also becoming more interested in feeding herself puffs while we are eating meals.  For every one that makes it to her mouth there are about 10 on the floor; but I am glad she is becoming interested in food somewhat.  However, I think Bela (our dog) is sick of banana puffs because last night she would even eat them.

Sunday, May 15, 2011

Trying to Forget

I wish you all could see Macy right now playing as happy as can be in her exersaucer.....not a care in the world.  And that's how it should be for a child.  I have been thinking, and I am going to try to make an effort to only do research, and think about Macy's disease 1 day a week (Monday's).  I don't want to become completely consumed right now which could be easy to do.  I want to be happy (as much as I can be) and just spend time with her laughing and playing.  I also have too many other things to focus on (healthwise) with her right now.  Other things caused by her disease like her kidney issues, planning her thumb surgeries, her eating issues, and of course fighting the insurance company about things they are supposed to cover but don't want to (fun!).  

I will probably update this blog on Monday's and when she has appointments.  The other days I just want to try to forget about it for now.  I won't be able to completely because it is always there now hovering around in my brain; even when I am asleep it is on my mind, but I am still going to try.  I might not always follow my 1 day a week rule but I will still give it a shot.  I will still have good days and bad days but hopefully I can put off my bad days for Monday's.
Here is Macy rolling around on the floor the other night in her Sponge Bob PJ's! She is always so happy even with that uncomfortable feeding tube taped to her face and going down her nose.  FYI:  I am taking her tube out tonight and am going to give her a few days without it to see how she does.

Wednesday, May 11, 2011

Thank you

I just wanted to take a moment to say Thank You to everyone that has offered their prayers and kind words for Macy.  It really means a lot to us.  Many of you have sent me private messages saying you are having your HLA type tested, and/or having you and your families tested to see if they are a match for Macy.  Also many have registered with the National Registry to be added to the donor list.  It is so kind-hearted, and generous that so many are doing this.  I want everyone to know that every kind word and prayer isn't going un-noticed.  We appreciate it so much.   We love Macy more than words can describe, and we know she is loved by so  many others as well.  She is a very special little girl!

Tuesday, May 10, 2011

Pedi Appt.

We went to Macy's Pedi appt. today to discuss the stomach feeding tube.  We were hoping she could get it within the next week.  You would think by now we would know that nothing happens that fast in the medical world.  She will need to see a GI Specialist and a Ped. GI Surgeon to get it approved and it could take 2-4 weeks before we even get in to see them.  Her current NG tube (one that goes through the nose) is not ideal.  They only last a max. of 1 week and it is very stressful and traumatic for Macy and us to have to keep taking those out and putting them in.  Not to mention it makes her oral aversion worse so we are not going to get anywhere with feeding therapy while she has that in.  

Today was the first day I was able to talk to Macy's Pedi about her recent diagnoses.  It was really hard not to just cry the whole time.  It is more difficult to talk about out loud than I thought.  I am sure we will have our good days and bad days.  Days I want to just forget that anything is wrong, and days I will obsess over it.  

Afterward her Pedi appt. we had to go to a medical supply store by the hospital.  I had to find out what size NG tube Macy has so her Pedi can get more.  I had to explain to them how she has bad "silent" reflux that was so painful that she has develop a fear of eating, etc.  The lady commented on how she felt bad for Macy and how people never know what others are going through..............I almost said "you have no idea"....."if this eating issue was the biggest issue we had I would be very happy".  But instead I just smiled, agreed with her, and left.  One day at a time.

Monday, May 9, 2011

5/9/2011 Genetics Appointment

Macy had her Genetics appointment today.  It looks like it is going to take longer than we thought to find out what HLA type she is and what complementation group she is in.  They need to find these things out before they can find a donor match, and before Adam and I can be tested to see if we are a match.  They said this will take 6 months to 1 year.  UGH!  That is a long time to wait and do nothing.  Other than that they didn't really tell us anything we didn't know already.  Macy will have to have regular CBC's to test her blood.  This is how they will know when her bone marrow will start to fail.  She will also have to have yearly bone aspirations done which is very painful.  I am trying to learn as much about her disease as I can.  Once we find out her "type" we can see if she qualifies for any clinical trials in Cincinnati.  Macy has an Oncology/Hematology appt. on May 24th so we should find out more then.

On a side note: We are meeting with her Pediatrician tomorrow to discuss her getting a stomach feeding tube surgically put in.  Her feeding aversion from her reflux is pretty bad.  The pain from the reflux is under control and it is now all behavioral, but her feeding therapist said it is going to take a long time for her to get past the fear of eating.  In the meantime while we are working on that she will need a more permanent feeding tube to give her the nutrition she needs.  It is important she stays hydrated due to her kidney issues.