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!   

Madilyn's Version of Dancing

This video cracks me up.  A couple weeks ago I started to sing this song, I think it is the Utah fight song (don't tell John it isn't BYU), anyway I would sing it and Madilyn would nod her head on que.  Who would of ever thought she would be dancing to Utah's fight song.  Here she goes........................................................................

New trunk Orthosis

    Madilyn received her Trunk Orthosis today, and wore it for the first time.  Just from today, I can already tell it was a good investment.  For those of you who read my blog a couple weeks ago, Madilyn had a SpioSuit, another type of orthosis.  It didn't work all that great, and felt she needed something with more support.  We did our research and decided to get her the Benik Dynamic Trunk Orthosis Vest. 
    The Benik Dynamic Trunk Orthosis Vest is a two piece body vest constructed of 3mm ventilated neoprene and is terry lined for comfort. Vest provides upper trunk support and proprioceptive input.   It comes in many other colors but we decided to go with the hot pink, flashy and bright.  She is suppose to where it all day except night time.  Hopefully it will give her a little more stability and help her not slump over while trying to sit.  We put her against the couch in her orthosis vest, and when she would start to fall, she laughed and laughed.  I sware she was falling on purpose just to be silly! 

Flashback During Pregnancy with Madilyn

     Today I was thinking alot about my pregnancy with Madilyn, and how it was so difficult.  When I went in for my first ultrasound at 13 weeks they saw a cyst on her umbilical cord, and they were very concerned about it.  They really wanted to keep a close eye on it because they weren't sure if it would affect her growth in utero.  At that point they weren't quite sure what kind of cyst it was, and thought possibly it was a sign of down syndrome or trisonomy.  I went in every 4 weeks for ultrasounds to check the blood flow from me to her in utero, and to track her growth.  Towards the end, 32 weeks on I went weekly for stress test to check her activity in utero, and any sign of distress on baby. 
     Madilyn didn't move much during the pregnancy so I was always concerned.  There were many times I thought I had miscarried.  Around  20 weeks we did the maternal Serum Screening which identifies pregnancies at higher-than-average risk of certain serious birth defects, including neural tube defects, like spina bifida, and chromosomal abnormalities like Down syndrome.  The test came back normal, so we didn't do the amniocentesis.  At the beginning of my pregnancy I was also put on baby aspirin, and progesterone.  I had 3 miscarriages prior to Madilyn so these medications were a precaution to try to prevent miscarriage.  Sometimes I wonder if the aspirin or progesterone could of caused some of Madilyn's issues.  I also wonder if the cyst on her umbilical cord caused something in her little body not to develop right.   I do catch myself going back in time when I was pregnant with her and wonder if there were any real clues to what could of been wrong.
   Madilyn to our surprise came 3 weeks early weighing in at 6 pounds.  Along with the doctor, we were expecting her to win a trip to the NICU because of the unknown cause of the cyst, and being early.  The doctor was really anticipating her birth because of the mysteries cyst on her umbilical cord.  To every one's surprise, Madilyn came out kicking and screaming, and looked normal in every way.  The doctor examined the Placenta and sure enough there was a cyst the size of a  golf ball attached where the umbilical cord inserts into the placenta.  Doctor had never seen such a thing, and decided to send it off  for pathology.
    Madilyn didn't nurse all that great at the hospital, but everything else seemed to be fine.  She came home with us 3 days later.   I do catch myself often thinking back to the pregnancy and wonder what it could of been that caused her hypotonia, and development delays.  I realize I may never know, and know it may not of  changed the outcome.  It is kinda ironic cuz I was  one of those woman who watched what I ate, drank, and did during pregnancy.   I always took my prenatal's, and did exactly what the OB told me to do.  Then you have those who don't do any of that, and never have a difficult pregnancy and have healthy babies. 
I guess going back in time doesn't help much other then remembering the good that came from all of it.  I did get a beautiful baby girl, and she is a miracle!  She is a little drop of Heaven and reminds me everday that heavenly father is near! 

RSV Go Away

Madilyn has been really sick the last few days, along with the rest of the family.  Anyway, she officially has her first case of RSV.  The doctor checked her oxygen levels, and they were below normal, and as for her breathing, it didn't sound good.  So she has to use the neubilizer every 4 hours with Albuterol treatments.  Poor girl, she is such a trooper, and I just hate when she isn't feeling well.  She really hates having the neubilizer mask on for 20 minutes at a time, and cries during the treatment.  We have to be super careful cuz for Madilyn it can easly turn into pneomonia.  Hopefully this will help her breathing and we can avoid having her stay overnight at the hospital.  RSV is the pits! 

Preventing RSV

Because RSV can be easily spread by touching infected people or surfaces, frequent hand washing is key in preventing its transmission. Try to wash your hands after having any contact with someone who has cold symptoms. And keep your school-age child with a cold away from younger siblings — particularly infants — until the symptoms pass.

Thank You

    I just wanted to thank all of you for your sweet comments, and prayers.  It is through others and the lord that I have been able to survive this challenge in my life.  Some of you have made comments on the strength I have, but really it comes from the support and love I get from all of you.  We still don't have results yet, but hopefully soon.  Are little family has been sick with some type of cold virus, so I haven't been feeling up to posting much.  Madilyn has a little cold herself, but we try to keep her indoors, and away from other germs.  She has stayed pretty healthy this winter considering the fact that she has low tone.  Her doctors are always surprised how healthy she has been.  Madilyn is a little fighter that is for sure, and she remains my hero.  Thanks again to all of you who have been there for our family and Madilyn!!!

Anticipation Awaits

    As most of you may know, Madilyn had blood work done a couple weeks ago.  Remember the miserable 5 viles of blood by IV, how can we forget?  The results should be back any day now, and boy am I getting restless.  I am very nervous to say the least to know what the results will be.  Are Genetic/Metabolic doctor tested her for a whole gamma of things; couple enzyme deficiencies, lactic acid, and a couple syndromes.  Depending on whether these come back normal or abnormal, will help direct the doctor on what type of testing will be next.  Our doctor is determined to find the answer, and I feel strongly he will find the cause of Madilyn's hypotonia. 
    Even though finding an answer (diagnosis for Madilyn) won't fix anything, it will help give us closer knowing we did all we could to help our little Madie.  Perhaps all testing will come back normal, and we won't find the answer to her low tone.  The doctor's say 50% of the time they never find the cause, and we just have to wait and see what Madilyn decides she can do.  The case maybe Madilyn will be part of the 50% with no cause, and she will eventually catch up with her peers.  Whether that be the case or not, I am truly grateful everyday to have such a special girl in my life.  She lights up the room from a mile away, and you can't help but smile.  I will hopefully be posting soon on results, until then I hope and pray for Madilyn everyday!

WELCOME TO HOLLAND

    I will explain the title of this post in just a moment.  I couldn't sleep tonight, and felt very strongly I needed to post this.  A couple weeks ago I was really having a hard day.  I don't know what it is, but it's as if people can read my mind and know what I need at that time.  Later that day, a woman of my faith I've never met, brought by this letter, called "Welcome to Holland."  I first want to thank her for giving me what I really needed that day.  When I read it for the first time, I cried and cried.  Later I found out this woman has a child with down syndrome, and she was given this letter when she was struggling.  This letter really reminds me everyday how lucky I am to have such an unique human being, Madilyn.  And even though it isn't what I expected, (Italy)  it is Holland, a very special, very lovely place!!!!  So I take my new guide book, and learn all I can about this place!!!  

 Welcome to Holland.

I'm often asked to describe the experience of raising a child with a disability-to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...

When you're going to have a baby, it's lie planning a vacation trip to Italy.  You buy a bunch of guide books and make your wonderful plans.  The coiseum. The michelangelo David, the gondaolas in Venice. You may learn some handy phrases in Italian.  It's all very exciting.

After months of eager anticipation, the day finally arrives.  You pack your bags, and off you go.  Several hours later, the plane lands.  The stewardess comes in and says, "Welcome to Holland".  ??

"Holland?" you say, "what do you mean" Holland"?  I signed up for Italy!  I'm supposed to be in Italy.  All my life I've dreamed of going to Italy"

But there's been a change in the flight plan.  They've landed in Holland and there you must stay.

The important thing is, they haven't taken you to a horrible, disgusting, filthy place, full of famine and disease.  It's just a different place.

So you must go and by a new guide book.  And you must learn a whole new language.  And you will meet a whole new group of people you would never have met.

It's just a different place.  It's slower-paced than Italy, less flashy than Italy.  But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills...Holland has tulips....Holland has Rembrandts.

But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there.  And for the rest of your life, you will say "Yes that's where I was supposed to go.  That's what I had planned".

And the pain of what will never, ever, ever, ever go away....because the loss of that dream is a very significant loss.

But....if you spend your life mourning the fact that you didn't get to Italy, you my never be free to enjoy the very special, the very lovely things about Holland.

Enjoy Holland!

Shriners Appointment

    Are appointment with Shriners was today and it was very interesting to say the least.  Very different setting then typical hospitals.  Very laid back, low key environment which is good I guess.  My husband and I are just use to the fast pace atmosphere and the doctors sending us in and out.  Shriners doctors spend as much time with you as you need and then some.  And not only did we have one doctor in there, but three at the same time. 
     Shriners Hospitals for Children is a hospital dedicated to improving the lives of children by providing pediatric specialty care.  Children up to age 18 with orthopaedic conditions, burns, spinal cord injuries, and cleft lip and palate are eligible for care and receive all services in a family-centered environment.  Shriners Hospital has been a leader in pediatric orthopaedic care since 1922.  In fact, they have the largest full-time staff of pediatric orthopaedic surgeons in the U.S. It is dedicated to providing medical and rehabilitative services to children with congenital anomalies and conditions, problems resulting from orthopaedic injuries and diseases of the neuromusculoskeletal system.
    Madilyn loved the doctors at Shriners, and was very flirty with the male doctors especially.  The Neurologist at Shriners looked at her, and basically went through the same things are previous neuro had gone through.  Madie also saw the orthopedic doctor at Shriners.  They did x-rays of Madilyn's hips and back to rule out scoliosis and hip displasia.  Happy to say she doesn't have either one.  Shriners will follow her orthopedic care if needed and help provide specialized seating equipment.  They also provide physical therapy and occupational therapy, so we plan on going there once a week.  This will be a great place to be in the near future and what a blessing it is to have Madilyn apart of Shriners. Thanks to the great people of Shriners Hospital for the support and care they will 
provide for our daughter and other family's in need!!! 
   Just a couple days ago I was feeling sorry for myself and Madilyn, but today I caught myself being grateful for what I had, and felt bad for those who have it harder.  It was sad to see kids at Shriners with all of these different disabilities, and challenges.  It made me feel 
like I wasn't alone. It was as if I felt a lighter load knowing it could be worse!  I really feel the Lord knows all of our struggles and wants us to know we aren't alone.  I think different people and different situations are there to reminds of that.  It was an eye opening experience today, and hope I can learn a valuable lesson from all this (Gratitude).
If interested in Shriners go to www.shrinershq.org/Hospitals/Main/About

Madilyn's Ophthalmologist Apppointment

     Madilyn had her eye appointment today to confirm she has nystagmus.  For those of you who don't know what that is, it is rapid, repetitive, involuntary movement of the eyes from side to side.  Depending on the cause, these movements may be in both eyes or in just one eye. The term "dancing eyes" has been used to describe nystagmus.
     Are PT first noticed it when Madilyn was around 8 months old.  We were then referred to a Ophthalmologist by our Neuromuscular doctor who also noticed the nystagmus. The eye doctor today confirmed she has it, and may be more noticeable when she is tired.  He then went on to say, he wants to do a more thorough exam under anesthesia to look for a cause.  The eye doctor will also be looking at her previous MRI to see if there is something in the brain causing the nystagmus.  He did reassure us that she does not have Tay sachs disease which is one disease are Genetic doctor mentioned, but was ruled out today by the eye doctor. 
   Nystagmus is usually a benign condition, and not progressive.  There is no cure, but its symptoms can be diminished with spectacles or contact lenses.  The eye doctor thinks her nystagmus is all part of the bigger problem of what is going on with Madilyn. We are scheduled for the anesthesia eye exam in April.  Again another test, another day, and still no definite diagnosis. 

Madilyn in the chair at the eye doctors!

Mastering the hand to hand Transfer

Madilyn has mastered being able to transfer a toy from one hand to the other.  AT 9 months she was unable to grasp a toy let alone transfer it.  This is a huge step for Madie and we are so proud of her.  It's little baby steps like this that give us hope that Madilyn will some day be more mobile then we originally thought.  We are going to prove those doctors wrong Madie, and one day your going to surprise us all!  Good job baby girl!!!!  (14months)

She thinks she is pretty cool.

Super Duper Aunt

Madilyn has some really great Aunts who are always there for her and treat her so good.  One Aunt in particular though has really been there for Madilyn and myself.  She is a nurse so it is always comforting to know I'm in good hands when she is around.  She has been to most of Madilyn's doctor appointments and is not only there for support, but there to listen to what the doctors have to say. Sometimes when we go to appointments, things are a blur because of all the medical termonlogy.  Aunt L is there to listen, comfort, and hug myself and Madilyn if we need it.  She has really helped us get through alot of these difficult appointments, and continues to be a great help!  Thanks Aunt L for all you do!!!!! 

Sleepy Princess

I could watch my beautiful Madilyn sleep all night long.  She looks so peaceful and comfortable in her 10 star luxury bed.  This girl loves her crib and will only fall asleep in her crib.  Love you sleepy princess!

Video clip of Madilyn in Therapy Tire Swing

Madilyn's Tire Swing

We bought this tire swing from a friend that makes and sells them on Ebay.  She has more available on Ebay, if your interested let me know and I will let her know.  Madilyn really likes the swinging motion and it seems to help with her torso strength.  My other two kids seem to enjoy it, so it makes out for a great therapy toy.  Wish I would have had one of these when I was a kid!!!!

Moment at Mcdonalds

       The kids and I went to McDonald's today after Lexi got home from school.  Probably not the best idea to have gone today, because I was already having a "why me" day.  As we walked inside I noticed lots of moms and kids playing around.  Then soon after I caught myself looking at other babies Madilyn's age.  I couldn't help but notice how they were crawling around and standing against the slides.  There was one mom with a baby who looked younger then Madilyn and was standing up against a chair. That is when the "why me" began.
      There was one mom who looked scary and wasn't nice to her kids.  I thought "she doesn't realize how lucky she is, and what makes her so special."  I began to feel upset that my child wasn't able to do the things that their kids were doing.  When I was holding Madie she looked like a rag doll, and I felt moms were starring.  They probably weren't really starring at how floppy she looked or how she couldn't hold her head up well.  They were probably thinking how cute she was.  But it was my insecurities that got the best of me. 
      When I left McDonald's with the kids I thought to myself, I am banding myself from going there again.  But as I drove home, I began to think that it wasn't fair for Madilyn or my other kids.  I can't hide Madie from the world, and I especially shouldn't worry what other's think.  Madilyn doesn't know the difference and doesn't care, so why should I. 
      It isn't that I'm embarrassed of her, it's more of a protection thing.  Feeling the need to keep her from cruel stares and judgemental people.  I love my little Madie with all my heart, and even if she can't do the things that children her age can, I need to stop comparing and realize we are lucky to have such a beautiful gift.  It was just one of those sad moments I'm sure I will experience often, but it's how you deal with them afterward.  I need to focus on making lemonade not on the lemons.  Note to self:  Stay strong, hard times will pass.

Madilyn's SPIO Body Suit

Madilyn's physical Therapist recommended we get a SPIO Suit(Stabilizing Pressure Input Orthosis).  It helps with support and gives her sensory input.  She is suppose to where it 24/7 over her onsies.  She doesn't seem to mind wearing it, but it is very tight so I worry about her feeling too restricted in it.  This is a video of her in the SPIO trying to sit up.  Not to discredit her PT, but I don't think it really works all that great.  Obviously!!!

Meaning of Hypotonia

      So I have had several people ask me what hypotonia means.  This is the best description I could find.  This pretty much sums up Madie's body in a nut shell. 

"Hypotonic infants, therefore, have a typical "floppy" appearance. They rest with their elbows and knees loosely extended, while infants with normal muscle tone tend to have flexed elbows and knees. Head control is usually poor or absent in the floppy infant with the head falling to the side, backward, or forward. Infants with normal tone can be lifted by placing hands under their armpits, but hypotonic infants tend to slip between the hands as their arms rise unresistingly upward. While most children tend to flex their elbows and knees when resting, hypotonic children hang their arms and legs limply by their sides. Infants with this condition often lag behind in reaching the fine and gross motor developmental milestones that enable infants to hold their heads up when placed on the stomach, balance themselves, or get into a sitting position and remain seated without falling over. Hypotonia is also characterized by problems with mobility and posture, lethargy, weak ligaments and joints, and poor reflexes. Since the muscles that support the bone joints are so soft, there is a tendency for hip, jaw, and neck dislocations to occur. Some hypotonic children also have trouble feeding and are unable to suck or chew for long periods. Others may also have problems with speech or exhibit shallow breathing. Hypotonia does not, however, affect intellect."
       Though Madie fits some, but not all of the characteristics of hypotonia, there are days that are very challenging.  The most being the dead weight of lifting around a floppy baby.  Madie's little body is like a 4 month old with a 14 month intellect.  Madie is currently getting physical therapy once a week to help with fine and gross motor skills.  Some days it seems to help, but other times I feel it just makes her more fatigued.  Just the smallest exercise for Madie is like running a marathon.  

     

A quote from a friend

This quote was giving to me by a member of my faith,  I read this every day!
"God gave this child for you to guide, To love, to walk through life beside; A little child so full of charms to fill a pair of loving arms.  God picked you out because he knew how safe his child would be with you!"

A letter from Grandpa and Grandma Holloway

Dear  Madilyn,

Madilyn, you are a Special little Granddaughter and we can feel your sweet spirit through your loving smile. You were willing to come to your family and be a part of all our lives and know you are loved by your Heavenly Father and all of us.  We can't wait to hold you and give you hugs and kisses and tell you how much we love you.  You have amazing parents that have a great capacity to love and care for you. We are glad we are your Grandparents and will always be there for you.

Madie's grandparents are on a mission in Guam.  They left right before Madilyn was born, so they have never met her in person.  They are always concerned and pray for her every day.  They will be coming home soon and can't wait to hold and love on Madie!

Madilyn's New Swim Ring

       We have a friend who's son is low tone and has one of these, so I thought I would order one for Madilyn.  It is kinda strange; it goes around their neck and keeps them floating.  Strange idea, but seems to work.  Oh my gosh she loved it!  She thought she was so cool floating in the water without support.  It was like she was free and able to move around (non-weight bearing in the water). Now I have a solution for the pool.  The best eight dollar purchase I've made. 

Madilyn's Testing day/ The Beginning

     Madilyn had a new appointment with a Doctor at Primary children's who specializes in Genetics and metabolic diseases.  We were there for a couple ours, longer then we expected.  After we saw the doctor he sent us to get her labs drawn.  This is where the nightmare begins.  So 2 pokes and her veins kept moving and so are luck they had to call down the IV team to get a vein and pull five viles of blood out of a vein.  She was so exhausted cuz not only was it nap time but she had been crying so hard, it  tuckered her out.  So after a long hour in the lab we finally were able to go.  If these labs all come back normal I don't know if I can handle putting Madie through another blood draw.  We never thought it would take this long, and this many doctors to figure out what is going on with our little Madie.  The only thing doctors can tell us at this point, is Madie has hypontia (low tone), which is usually a symptom of something greater!   What started out with a general Neurologist then a Neuromuscular doctor, GI doctor, and currently a Genetic/ Metabolic Doctor,  Madilyn still remains a mystery and undiagnosed. 
     This journey all began when our beautiful Madilyn was born, December 11th, 2009.  Healthy 6 pound baby screaming and kicking.  We had a short stay in the hospital, only 3 days and Madilyn came home to greet her brother and sister.  It wasn't tell a couple days passed that I noticed that my milk wasn't coming in very well.  But I figured it was just stress.  I had nursed my other two kids, so figured I had the nursing thing down.  Then it was Madilyn who challenged my plans right up till 5 months when I gave up pumping.  Madilyn just didn't latch on great, and had a hard time getting anything out.  She had a weaker suck which I realized later contributed to me producing less milk.  The supply and demand just wasn't happening.  So two weeks of trying to get her to latch on and suck better soon came to an end.
Her pediatrician said she wasn't gaining weight like she should and I was feeling too frustrated to continue nursing.  So the bottle and pumping began.  
       Pumping and bottles(what a pain)  it's like your nursing but not, then you have to deal with bottles, and cleaning.  5 months of pumping my milk and finally decided it was taking up too much time.  So we continued to watch her weight, but still wasn't gaining very well.   Then around 2 months we took her in for her baby well appointment, and that is when we told the doctor she still couldn't hold her head up, but doctor didn't seem too concerned at the time. Madie continued to stay on the low end 1% for weight and 10% for height.  A lot different then my other 2 kids who were both 90% for weight and height.  So a couple months past (6 month baby well appointment) and still very dev. delayed.  Not pushing up off of tummy, not holding head up, not rolling over, not sitting up,  not crabbing at toys, and very low tone.
       Pediatrician became a little alarmed at this point, so she ordered a MRI and a swallow study, because Madilyn also had chronic rattle and congestion in her throat.  Almost as if she needed to clear her throat.  So the testing began.  MRI normal, swallow study slight aspiration on thin liquids only.   Then at 7 months first neuro exam and first set of blood work.  All normal once again.   Pediatrician still concerned about weight, she suggested a g-tube.  Oh, and madilyn also during this time had been taking previcid for acid reflex, and lactalose for her constipation.  I guess that is typical for a low tone baby.  She then was seen by a GI doctor who said the G-tube would be wise.  They classified her as failure to thrive. 
      We were still very leery of a g-tube and felt we needed to search other avenues.  So without the help of our doctor, we went to a pediatric dietician.  The best thing we have ever done.  We always felt the doctors were jumping the gun with the g-tube, and felt we  needed to try other things first.  She gave us lots of ideas to increase fat and protein in her diet.  And the one thing we had on our side, was Madilyn loved to eat.  It was just she tired quicker then a typical child would when feeding.  Happy to say Madilyn is now a wopping 17 lb 10 oz at 14 months.  We were glad then and still now that we went against the g-tube.
      In the meantime our neuro referred us to a neuromuscular doctor who then performed a nerve test, and muscle biopsy to rule out muscle disease and SMA (Spinal Muscle Atrophy).  Once again all normal.  Doctors were puzzled at this point, cuz she showed all typical signs of SMA, especially the low tone.  So at this point the only thing doctors can tell us is that Madilyn has hypotonia (low tone). Which is usually a symptom of something, not a diagnosis.   This pretty much brings us up to date as to where we are now, finding a diagnosis for Madilyn and getting the care she needs.  She is a mystery in the making.