Wednesday, October 15, 2014

Perspective

It seems to me that if you are given the worst case scenario right up front and then are able to come to terms with it, then you can handle whatever may come. That was how it was for me when little Hinjee was first diagnosed with aniridia.  With aniridia the problems are that she lacks an iris in both of her eyes, she has a cataract in one eye, some glaucoma, nystagmus (uncontrolled movement of the eyes) and no developed fovea (responsible for sharp vision).  Initially, before her diagnosis,  I was devastated to think that my little daughter might not be able to see.  Then I realized that it could be so much worse. With aniridia it is the Pax 6 gene chromosome 11p13 that is affected.  It could be just a mutation or it could be a deletion and involve other neighboring genes or chromosomes.  I might have stated this wrong because I still don't completely understand it.  In our case since neither Iron Man nor I have aniridia it is considered sporadic aniridia, which means that it spontaneously started with her, but we still needed to have genetic testing done to find out if  she has WAGR syndrome.

In the weeks that we waited for the genetic testing to be done and results to come in, I read up on
aniridia and WAGR syndrome. There is a wonderful book I ordered that deals specifically with families affected by Aniridia and WAGR Syndrome.

WAGR  stands for W=Wilm's tumors A= Aniridia G= Genitourinary abnormalities R= Retardation (mental) can be mild or severe. I read about children who developed cancerous kidney tumors, had to undergo chemotherapy and even have kidneys removed; the challenges that come from raising a child with a visual impairment from bullying at school to limited mobility to surgeries for glaucoma and cataracts; the less than thoughtful comments made by other people; then later challenges as she seeks for employment, the inability to have children and if she does she has a  50% probability of passing aniridia on to them, and the list goes on.  But I also read inspirational stories of people with aniridia leading very fulfilling lives often in spite of these challenges. 

I came to the realization that I can't do anything about her condition, it will be with her for the rest of her life on earth. What I can do is help her make something wonderful out of the life she has been given and do everything possible to develop and preserve vision she has.  Who knows what technological developments may be available in the future. 

I checked out a great book from the library  

  

I found some very helpful information in it.  One of the very first things I read that gave me a new perspective on the situation was a narrative entitled "Welcome to Holland", written by Emily Perl Kingsley.  She asks the reader to imagine that having a baby is like planning a dream trip to Italy.  You read up on all of the travel brochures, plan out all of the wonderful sights you will vist and things you will see and do.  You take your planned flight to Italy, but when you finally arrive at your destination they announce "Welcome to Holland".  Holland wasn't where you intended to go and all of the plans you made will no longer work for this destination.  The thing is, Holland is a beautiful place also and now you just have to come up with a new itinerary. .  There will still be amazing things to see and do, you just have to change your frame of mind and instead look for the windmills and all of the wonderful things Holland has to offer. 


I was determined to be proactive.  I contacted early intervention in our area.  They are a group of specialists who come in to your home to work with your child to help them reach their developmental milestones.  With Hinjee's diagnosis she automatically qualified for services.  We were put in contact with a vision specialist who comes nearly once a week to work with Hinjee on the development of her vision.  

On a Tuesday, two weeks after the genetic test had been done, I had a message on my phone from the genetic counselor.  She was calling to let me know that she had the results from Hinjee's test and to give her a call back.  It had only been two weeks, we were told it would be closer to six weeks before we would hear anything.  I was a jumbled ball of nerves when I made the call, but I ended up being sent to her voicemail.  I left a message and then waited on pins and needles until she finally called me back with the results. I told myself I would be OK no matter what the results were.  I took a deep breath as she told me that Hinjee did NOT have WAGR syndrome. Her's is an isolated case of aniridia.   I was elated!  No renal ultrasounds every three months.  We will still have challenges with her limited vision, and we won't know how limited that will be until she grows older and can talk to us about what she can see.

A few days after she was diagnosed  I put a status update on facebook which read  Aniridia = My worst nightmare turned reality.  I was so wrong!  The real nightmare would be the inability to remain optimistic in the face of adversity or trials.  I love my beautiful girl, I love everything about her and wouldn't change a thing
!




Wednesday, August 27, 2014

Aniridia

Before yesterday I had never even heard of Aniridia.  It now consumes my life.

Last Friday my sweet little Hinjee had her 2 month Dr. visit.  Everything was going well until Dr. H asked if she was exhibiting a social smile.  I said yes she does smile a lot and it is more than just gas.  She asked if she was making eye contact and responding to my smile.  I thought more about it and realized that she had never really made eye contact with me.  Her eyes still fluttered around quite a bit and more likely she was smiling in response to my talking to her.  She examined her eyes and found that she wasn't tracking and didn't really respond to the light thing-a-majig that was waved in front of her eyes, even with the lights turned out.  She recommended that we see a pediatric ophthalmologist.  She scheduled the appointment for the following Monday afternoon.

I went home concerned.  I discussed things with Iron Man and we did our own flashlight test and concluded that she would be fine.  I would go to the appointment and we would find that all was well.  Monday came and Iron Man decided at the last minute to come with me.  I am so glad he did.  When we got there Dr. R indicated that the fluttering of the eyes is normal up to 3 months.  I breathed a sigh of relief.  Then she looked a little closer with her light and told us that Hinjee has what is called Aniridia.  I had no idea what she just said.  It was like she was speaking a foreign language.  "Ani what?"  I asked.  She repeated it and explained what it meant  An= without  irid= Iris.  Hinjee was born without irises (the colored part) in both of her eyes.

After that it all got fuzzy for me.  I just remember them trying to do an eye exam, which was rather difficult for them.  Hinjee kept popping off the little devices used to keep her eyelids open, she has very strong eyelids for a little girl.  What their initial exam indicated was that Hinjee has a little glaucoma in one eye and a small cataract.  They didn't look much further because they wanted to do an exam under anesthesia and possible surgery depending on the pressure from the glaucoma.  It killed me to even think about her going under anesthesia at only 2 months old.  Surgery was scheduled for Thursday and we left the office with a red folder containing papers which explain the rare genetic disorder we would now learn so much about, instructions for outpatient surgery at Primary Children's Medical center, and a card with numbers to call if we have any questions.  I felt overwhelmed.

What I learned about Aniridia scared me.  It is very rare only about 1 in 50,000-100,000.  So much for local support groups.  It occurs during the 12th to 14th week of pregnancy due to a mutation in the chromosome 11p13 section of the PAX6 gene.  If you have no idea what that means don't feel bad, neither do I.  All I know is that it isn't because of something I ate or didn't eat or actions I did or didn't do during pregnancy.  Aniridia can be isolated or can occur with other symptoms such as kidney tumors, genital abnormalities and or mental retardation.  When I read those words my mind shut down, my heart broke I could not process it or rather refused to.  Not my sweet, beautiful girl.  I couldn't imagine it, nor did I want to.  I felt sick to my stomach.  This is how I feel every morning when I wake up.  I feel like I am waking up to a nightmare, which is now my reality.  Some days I can handle it better than others.

We won't know for awhile which type of Aniridia she has.  I still can't name and explain the different ways Aniridia is inherited so I won't even bother.  We will undergo genetic testing to determine it and then we will have a better understanding how much she will be affected.  We will also know more when the exam is done tonight (they moved it up a day).  Our lives for the next while will pretty much revolve around Dr. visits, visits to specialists, renal ultrasounds (to detect kidney tumors) etc...I hope things get easier and more manageable with time.  I believe that there is a special purpose for her life.  We are trying to remain optimistic and know that this is all part of Heavenly Father's plan for her life.  She was blessed that in her lifetime she would see "amazing things"  and I believe that .  She is the sweetest baby, so happy and good natured.  I think that this will be much harder on me than it will be on her and I so wish I could take her place.  For now I will try to just take it one day at a time and hope and pray for the best.

Monday, June 30, 2014

Family Pictures 2014

This is the last time we will all be together for two whole years.  We hoped little Hinjee would come before her oldest brother left for his mission and luckily she just barely made it.  We decided to do family pictures in our backyard with our new camera.  I love how they turned out.











Sunday, June 29, 2014

She's here at last!

Eleven days past her due date, baby Hinjee has finally graced us with her presence.  Her nickname comes from Thor who had all sorts of things he wanted to call the baby, but our favorite was Hinjee Spinjee.  I have no idea where he came up with it, but so she will be called, in this forum anyway.


I was really hoping not to have to be induced with her.  I figured since Thor came on his own any other babies that followed would follow suit.  At my last appointment however after her due date came and went I was disheartened as I found out I was still only dilated to a 2.  So I scheduled my induction for Friday June 20th.  The hospital called me the night before to tell me that they were very busy and might not get me in until late afternoon.  UGH!  But the next morning they called at 8:30 and informed me that I could head on over.


We arrived at the hospital at 9:30 am.  I was so excited to finally be having this baby, but nervous at the same time.  I'm not a huge fan of pain.  We started the Pitocin around 11 or 11:30 and then we waited.  The contractions started almost immediately, they were pretty mild.  After a few hours the midwife on call came to check me and........nothing...no progress at all.  They kept increasing my Pitocin and said they would be back to break my water around 4pm.  Well a few minutes before 4:00 my water decided to break on its own.  It was then that things started to get really intense.  I lasted 45 minutes of excruciating contractions.  At about 4:45 my nurse came in and I asked her to check me.  To my dismay I was only dilated to a 4.  At that point I demanded an epidural I could take no more.  She called for the anesthesiologist and told me it would be about 15 minutes before he would get there.  When he came into the room, I don't know what it was but, right off the bat I didn't like him.  Iron Man told me later that he seemed really disorganized and like he didn't know what he was doing.  "Um....nurse....did you see where I put that syringe."  He gave me a local anesthetic and then tried to place the catheter. He couldn't do it.  He tried at least four different times and was unable to get it in.  At that point I really felt like she was coming and I needed to push.  My nurse told the anesthesiologist that she needed to check me.  He kept trying to get the epidural in.  Luckily my nurse was persistent and got him to let me lie down.  As soon as I did, they discovered I was complete and called in the squad.  After about 10 minutes (maybe less) of pushing, little Hinjee was born.  Another great delivery!  I feel so blessed that he didn't get the epidural placed. The key was sitting upright.  I think if I would have done it to begin with she would have been born a lot sooner.


Here is our beautiful girl.  Born June 20th at 17:17 pm.  7 pounds 19 inches.  Welcome little one!














Friday, June 13, 2014

4 Days Overdue!

Oh how I wish I were referring to library books! 


My EDD (estimated due date) with Hinjee Spinjee (as Thor so fondly calls her) was Monday June 9th.  I was almost certain she was going to come early.  Sparkle my first was 9 days late, but since she was my first child I pretty much expected she would arrive late.  With Thor, I woke up on the morning of July 19th, his EDD, and started having contractions about 4 minutes apart.  I conveniently had an appointment that day with the midwives and upon examination I was found to be dilated to a 6 and 90% effaced.  I checked into the hospital just after 11 am and when fully dilated pushed for 10 minutes (an excruciating 10 minutes mind you) and he was born at 1:13 pm, no epidural.  It was the most amazing delivery!  So I figured the next one would have to be at least that quick and easy, if not more so.  So I had it all planned out in my head.  She would come either on her due date or a few days before and it would be a breeze.  The day before her due date I was having contractions and everything seemed like it was going according to plan.  Now here I sit, four days after her well thought out and planned arrival date, feeling depressed, worried, and wondering what is wrong with me that I can't deliver this baby on time!


I know these feelings are completely irrational, but I have them and right now it is hard coping with my emotions.   Reading this I feel kind of silly writing about such a trivial thing.  Especially when I know there are so many who have it much worse than I. I should feel nothing but gratitude for my healthy pregnancy and baby soon to be arriving.  I worry though. She was in a posterior position at my last appointment which means she's head down but facing the wrong direction, which complicates matters and can make for a longer pregnancy, and a longer and more difficult labor and delivery.  I have been trying different yoga positions to encourage her to switch to a anterior position, but I can't tell if it's working and now it seems like she is transverse.  I get so frustrated not knowing what is happening in there. I just feel large, miserable, tired and powerless to do anything about this situation.






I am moody and impatient with Sparkle and Thor, who seem to be extra cranky and demanding.  I feel like such a mean mom sometimes.  NO we are NOT going to continuously snack all day, YES you do have to get dressed, and NO staying at home by your two-year-old self is not an option so you can either walk to the car or I WILL carry you kicking and screaming as the case may be.  My flower beds and yard are getting overgrown with weeds, there is so much to do but I don't feel like doing any of it.  I feel like I am on the verge of a major meltdown!  Yet at the same time I feel guilty for feeling this way when I have so much to be grateful for and I  realize how small my problems are compared with the much greater difficulties that others are facing.  I think that Viktor Frankl said it best in Man's Search for Meaning when he explained


           "...a man's suffering is similar to the behavior of gas.  If a certain quantity of gas is pumped
                into an empty chamber, it will fill the chamber completely and evenly, no matter how big
                 the chamber.  Thus suffering completely fills the human soul and conscious mind, no
                 matter whether the suffering is great or little.  Therefore the 'size' of human suffering is
                 absolutely relative." 




This coming from one who had lived through all the horrors of being in concentration camps!  He also comments further that " it also follows that a very trifling thing can cause the greatest of joys"


I should really read that book again.  I need to remember how to find joy in the "trifling" things. Also that "Emotion, which is suffering, ceases to be suffering as soon as we form a clear and precise  picture of it"  What is the purpose of it (whatever you are suffering)?  When you can answer that question,  you can succeed in rising above it.  No matter how large or miserable or tired I may feel I can still choose my own attitude and how I am going to handle it.  I decide what becomes of me mentally and spiritually. How wonderful, the gift of agency!







Thursday, June 5, 2014

Revolutionary Kickstarter project: Liquid level sensor!

Iron Man has a new project on Kickstarter.  I just want to give it a plug here.  The AquaPlumb  is a liquid level sensor that can have so many applications and can be used with many different types of liquids.  Whether you want remote monitoring and replenishing of livestock water tanks, control of aquaponic systems or aquariums, monitoring of flood alarms or even to create an electronic toilet, it's uses are many and varied.  Check it out.

Thanks for looking!


Thursday, February 27, 2014

DIY Booster Seat


So Thor, my youngest (until June) is now 2 1/2 years old.  I have been thinking, for way too long, that it is time to get him out of his high chair.  First, it is so hard to get him in and out of it, especially when he is wearing shoes.  Second, I would love to not hear him yelling "Mommy, I want down" when I am indisposed or at other times for that matter. Third, we finally have a table large enough to accommodate the 7 of us.  And finally he's two and a half!!!!  Seriously, it is about TIME!!  Though in my defense he is little and still mostly fits in it :)

We have Sparkle in a booster seat I got at Wal-Mart and I was tempted to just go get another one.  But it is a tacky green plastic thing that used to have a tray, which we never used, and now there are these gaping holes where the tray used to be which food falls through.  There are so many things I don't like about it, I just couldn't bring myself to buy another one.  So I waited hoping to come up with a better option.

One day while Iron Man and I were on a date at the local Barnes and Noble (yes, we are nerds and like to browse books for fun) I saw this lovely little book entitled "One Yard Wonders" which has many different sewing projects you can make with just one yard of fabric.
 
 I sat down and thumbed through it to see if there was anything interesting.  I came across several projects I liked one of which was a booster seat (p.232)  One great thing about these books (there are several) is  they include patterns for the projects that require them, but most are so simple you don't need one.  That evening I put it on hold at the library and in a few days I had my copy. 

It took me forever to decide I was actually going to attempt to make the booster seat.  In fact I had to renew the book once before I even started.  Sometimes I talk myself out of trying new things, particularly when they require materials I have never worked with before.  This one called for waterproof fabric and 3 pounds of buckwheat hulls.  I had no idea where to even find buckwheat hulls. But with a bit of encouragement from Iron Man (he always believes in trying new things) I ventured.

I found a nice black and white laminated cotton fabric at Hobby Lobby.  I had Sparkle pick it out since it would be her new seat.  I got the foam insert there as well. We ordered a 3 pound bag of buckwheat hulls off of E-bay which was a bit less expensive than Amazon.  (*Update:  I found a website which offers free shipping on buckwheat hulls it is http://ecomamaliving.com/)  The only thing I added to my seat that wasn't included in the book one was a strap so you can fasten it to the chair. For that I got a yard of black nylon webbing at JoAnn's and sewed on Velcro and it was easy to add on, by sewing it into the bottom seams.

  The project went very quickly.  I was mostly done within an hour. I just had to wait for the buckwheat hulls to arrive.  They came today and I finished the project this afternoon.  And here it is!  I love how it turned out.  A yard of this fabric is enough to make two chairs.  So Thor will be getting one also and we can finally say goodbye to that nasty green plastic one.