The Diagnosis I wasn't Expecting:

Dear Family and Friends,

  Where do I begin?  Some of you may know it has been a real difficult week for our family.  We received Madilyn's MRI results and it wasn't the best of news.  It is so strange all this time we have been anxiously waiting and waiting for a diagnosis for Madilyn, but when you finally hear she has one, you almost wish there wasn't one.  We have been so use to hearing her test were negative, that when you here something is abnormal you can't really process the word.  It is definitely something we were not prepared for!!

   We received the call from her genetic doctor Thursday night (Dec. 8th) at 5:30p.m.  I was home alone with the kids, and Madilyn was crying, Austin was screaming, and Lexi had the T.V blasting.  I was not in any position, or condition to hear what I was about to hear.  "Your daughters MRI is abnormal," what does that mean.  I was so scared to hear what he was going to tell me next, good or bad what did this mean.  He said there were changes that were not seen before when she did the MRI at 6 months.  It showed changes consistant with Mitochondrial Disorder.  This was not a new word for us, for John and I had done a lot of research about this disorder in the past.  We always came across Mitochondrial Disorder on the internet and thought Madilyn fit the mold. The doctor then began to tell me he was 90% sure this was it but needs to look at her muscle biopsy results and order one more blood test to confirm.  This is where I went into a state of shock, and everything he began to tell me, I was not prepared to hear. 

   What does this mean, what his her prognosis,  what can we do to save her, is there a treatment?   The doctor's tone soon changed, a real calm tone. He said that Mitochondrial Disorders do not have a cure.  They are degenerative, and every child with this disorder is affected in many different ways.  Mitochondrial disorder (disease) are a group of disorders caused by dysfunctional mitochondria, the organelles that are the "powerhouses" of the cell. Mitochondria are found in every cell of the human body except red blood cells. Mitochondria convert the energy of food molecules into the ATP that powers most cell functions.  Mitochondrial disorder are often caused by genetics or mutations to the mitochondrial DNA that affect mitochondria function. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function.

   Basically Madilyn's energy source mitochondria (the powerhouse of all are cells), is diseased and not functioning properly.   Mitochondrial disorders may be caused by defects of nuclear DNA or mtDNA.  Mitochondrial DNA deletions generally occur in one family member only, with no significant risk to other family members. Mitochondrial in Madilyn is caused from a gene mutation in her DNA.  This causes her to fatigue quickly, and even the smallest task, like eating uses up all her energy sources. 

   What now?  Our doctor wants to meet with Madilyn's Neuroamuscular doctor to go through the results again of her muscle biopsy, and then we will proceed to do the blood work that basically confirms Mitochondrial disorder.  At this point he is confident she has it.  It was not a good day for any of us. John and I and his family pretty much cried all day and night.  Darrell (father in law) gave John and I a blessing which helped give us a little peace.

    I am really scared what is to come, and I can't even think of the future or I just break down.  I can't even fathem Madilyn not being with us.  I honestly can't believe this is happening and I don't really understand why?  I just hope we don't have to watch Madilyn suffer from this disorder, and pray she won't.  If this is God's plan for her, I hope she will be go in peace. 

   Our life will forever be different, and we will live each and ever day like it is the last.  I want to have the best of time and memories with our little Madilyn, and want to make her as happy as she can be while she is here.  I know if she does leave this life early, she will be going to a better place, a place she can walk, run, talk, and never have to be in pain again.  I have faith that there will be family greeting her with open arms and waiting to hold her in Heaven.  ( oh I wish it was me)  (Please God don't take her).  Am I Strong enough for this, sometimes I wonder?  

   If you try to call I am not really feeling up to talking by phone.  Emails are nice, and prayers.  This is a very difficult time right now for all of us, but I do truly believe Heavenly Father is there and listening.  Please Please Heavenly father give John and I the strength to over come this.  I know this is but a small moment on earth, but I need your comfort and loving arms to helps me survive this. 

Madilyn and Baby Jack

    Madilyn has a new cousin who is a month old.  Madilyn adores this baby, and gets very jealous when you try to take him away from her.  She thinks she is a big girl now that she has a younger cousin.  It is crazy to see how small Madilyn is when she is laying next to a 6 week old. 
    She just lights up when she is with him.  You can't help but wonder if she knew this little guy in heaven.  She really is good with him and loves kissing on him.  It has been bitter sweet having a new little baby cousin already showing strength Madilyn never had.  In fact he holds his head up a lot better then our little Madilyn.  I know it will be a difficult day when her 6 week old cousin starts passing her by.  Sitting up, rolling over, crawling, walking just to name a few.  Though I am grateful for this new miracle in this world I can't help but sit and watch as everyone watches in amazement when he kicks vigorously, and comment how strong he is.  . Here are some cute pics of the two together. 

10 Things I love about a Child with Disabilities

1.  Don't have to worry about their hands and knees getting dirty from crawling
2.  Don't have to worry about them putting things in their mouth they aren't suppose to
3.  Don't have to worry about them having temptations
4.  Don't have to worry about Major tantrums
5.  Don't have to worry about them beating up their siblings
6.  Don't have to worry about them drowning in the tub (Otter chair strapped in)
7.  Don't have to worry about them running off in the shopping mall and getting lost
8.  Don't have to worry about them making messes.
9.  Being able to give them hugs and kisses without them resisting.
10.  And above all Don't have to worry about them growing up too fast.

by Jaime Newman

Wheelchair For Madilyn

    Wow, it has been a very long time since I have blog. With are crazy lives, moving, vacations, weddings, and school starting it seems as though I have had no down time for blogging.  I apoligize to those who only had this to see updates on Madilyn's progress.  Madilyn has been doing great, and is now 20 months.  She still is not able to get around on her own, so that is what brings us to this current stage; A wheelchair (Yikes).
    
     We really felt Madilyn needed something so she could explore her world in other ways other then carrying her from room to room.  Thanks to Shriners once again,  they donated this little wheelchair for her.  It has a little desk that can be attached and also has multiple recline positions for her.  It was a bitter sweat day when we picked up her wheelchair.  Most moms and dads are filled with Joy when they watch there babies walk or crawl for the first time.  But here we were excited to see are little girl sitting up so well in her new wheelchair.  Strange feeling, a feeling I will never forget.


   We have only been using the wheelchair in the house to move her room to room. We haven't brought it outside of the house yet,  I just don't think we are ready mentally.  The stares, the comments, and most of all making Madilyn vulnerable to the outside world of judgements.  I know we will have to come to terms with this new way of being, this way of life, but for now we are just coping the best we know how; baby steps!!


   The pics we took were at Shriners hospital. She was not happy at first because she didn't like the wheelchair doctor so close to her.  As we wheeled her around she actually enjoyed it and loved the mobility.  Bless her little heart she was such a trooper!!!

Taking Life for Granted

     An old friend from high school just recently wrote to me and said, " so many times we take life for Granite."  That is what brings me to this next post, a grateful reminder of not taking life for granite.  Many of us do take the good things in our lives for granted, our mate, our children, our home, the list goes on. Most of us don't stop to think "what would happen if I lost this or that.   We only think of what we have or had, when it is gone or simply diminished.
    I look back now at my life, and realize how much I took it for granite.  Especially with my children, Lexi and Austin.  I remember when they rolled over, crawled, sat up, walked, and talked, but didn't spend much time realizing how wonderful it was.  I took the small stuff as no biggie.  But now that I have a child with special needs, (Madilyn) I have come to be grateful for those little things.  It is important to cherish the small moments of each and every day spent with them.   
     So what should we do, spend our lives feeling grateful? The answer is yes. You can show that you are grateful for what you have by being kind and generous and teaching your children to be the same. Though that sounds simple, people often cannot master this way of thinking. This may arise from the idea that life owes us at least what we are now receiving. Sometimes we feel life owes us more or better than we are receiving. If that's where you are now, or feel that you are reaching that point take a day off and enjoy some "never take anything for granite" time.Take time out to acknowledge
the smaller good things in life; do it alone or grab your kids, your spouse or a good friend and go to the zoo, take a bike ride or a walk to enjoy the beauty of nature. 
“When something does not insist on being noticed, when we aren't grabbed by the collar or struck on the skull by a presence or an event, we take for granted the very things that most deserve our gratitude”
-Cynthia Ozick

Laughter

      I've been thinking a lot about this post, and really feel it is one thing that has helped me survive life, "Laughter."  I've relearned this valuable lesson through Madilyn, and have gained a better understanding of its importance. It is my new found healing agent.
    Madiliyn has just recently found her gut laugh, and boy is it loud. She is starting to laugh more and more at the silliest things.  When she laughs, you can't help but laugh with her.  This has brought me to know the importance of laughter and why we need it in our lives.     
   Back in college I remember attending a talk by a professor who spoke about laughter.  He said, "If you can find laughter in anything you can survive it."  Laughter allows us to step back from an event, deal with it and then move on.  Every laugh you manage, cuts short the miles and hours and days of hardship.  I truly believe it has helped myself and my husband get through challenging times in our marriage.  You cannot be mad at somebody who makes you laugh - it's as simple as that.
   A good laugh brings sunshine into the home, and that is just what Madilyn does.  Thank you everyone who has made me laugh, my kids, my husband, friends, family, parents, TV Shows, church members, and most of all my little Madilyn. 


Poem by Linda Chew called "Laughter"
Laughter they say is the best medicine.  I'd say I have to agree when things get heavy and things get tough putting on a smile is not enough.  You really need to set yourself free, enjoy a good laugh a roaring laugh, hee-hee.  A funny joke may do the trick, holding things in proves to make you sick.  Don't take life too serious, it might just make you delirious.  So take some time and relax.  I've already gathered the facts.  Join some friends.  Laugh your best.  Life will be easier for all the rest!

Madilyn Loves Books

     Madilyn loves reading books with her brother and sister.  It is so funny how much she enjoys reading with them.  I would say it is her new favorite activity to do and loves sitting in her new special tomato chair while reading.  This chair is awesome, and helps her sit upright without slumping over, and floppy head.  Check out AdaptiveMall.com for information about the Special Tomato Chair.  It is very mobile, can be placed on any chair, and inserted into certain strollers. It has a 5 point harness so I don't have to worry about her falling out.  Great investment number 3

Results are Back!

    Today was the day we received the first set of results from Madilyn's Genetic/Metabolic doctor.  They are all normal, except for her Lactic Acid levels which he will retest . Though this is suppose to be good news, it isn't really cuz all it means is more testing.  These first test he ran are more common type things, and now as we get more and more into testing, it gets more expensive and more difficult.  Difficult because now he starts testing for more rare, and disease type disorders. 
    He looked over Madilyn again, and examined her to see if she had any abnormalities which she does not.  He also discussed having another MRI done when she is around 2 1/2 to look more detail at her brain matter to see if there have been any changes.   That being said, mixed emotions are running through my head, and I'm getting more doubtful we will ever find out what is wrong with Madilyn. 
     The doctor then discussed the next battery of test he wanted to run,  which meant more blood work, which equals IV team.   Last time they couldn't get her blood to flow with just a regular poke so they had to call down the IV team.  Of coarse that is what they had to do again today.  This time they had to get 6 viles of blood, 14 ml's and for her weight she can only have 16 ml's taken. She was almost at her max of how much blood they can take from her small body.
       It was horrible, the IV team had to poke her twice cuz the first vein on her left hand collapsed.  She was shaking, screaming, and arching her back.  It was not a pretty sight for any mother to have to see, but I stayed strong and stood by her side.  Daddy and her Aunt L were waiting outside of the room, but kept checking to see if I was ok.  There was a moment I about lost it, when they had to pull out of the vein and start again. 
     Another waiting game which never gets any easier.  Last time I kept calling and calling wondering when the results were going to be back.  I just need to stay patient and calm.  Some of you might wonder when is this all going to end.  My husband did ask the Doctor today when we should call it quits, and he replied, "you want to know, and you should know, and really it is just a waiting game."  So basically not until we know.  My husband and I's answer to that is,  we want to know if there is something we can do to help her, but don't need to know if it is just going to put a name to it. 
    I just want to thank all of you who have left comments, and who have prayed for us and Madilyn.  You are all so very sweet and we appreciate your thoughtfulness.  This isn't an easy road, but feel blessed to have family and friends who are there for us.  Like always we will keep posting and keep updates on Madilyn's progress! 

This was after blood draw, she was so pooped!

A Big Week

    The day is finally near, the blood work results from our Genetic/Metabolic doctor will be here on Tuesday.  Madilyn also will be going to her first PT/OT appointment at Shriners tomorrow, along with her Sleep Study at Primary Children's. As you can see it is a big week for our family and Madilyn. 
     I don't know what I am feeling right now being just 2 days before getting results back from the Genetic doc.  Nervous, scared, anxious, excited, worried, impatient, however you want to put it, these results could change our lives.  The genetic/metabolic doc did say it is possible the blood work will be normal, and that being said, he will test Madilyn for more DNA type conditions and Syndromes which could get pricey.  I really trust Madilyn's Genetic doc and feel he has an amazing medical knowledge.  I truly feel he will find the answer to what might be causing Madilyn's Delays and Hypotonia. 
     I feel strange right now, a numb feeling really.  A peace I guess you could say.  What ever the next step is for us, I've got to keep positive, and have faith.  Those are the things that keep me going on this seemingly long medical path.  Heck if Madilyn can do it, then mommy can.  Please Heavenly Father let it be good news, let it be safe, let it be something my husband and I can handle.

Madilyn Trying to Sit in Bumbo

Madilyn has a bumbo seat and we have never really put her in it because it is too much work for her, and she gets really frustrated.  I thought I would give it another try to see what she would do.  It breaks my heart seeing how difficult it is for her to even sit in the bumbo seat.  She struggles to keep her head up, and it seems to take alot of effort on her part.  Poor thing, just the simplest task are so difficult for her.  She was so pooped after she sat in the bumbo for no more then 5 minutes.  She took a 2 hour nap after this.  I guess I figured out how to tucker her out!