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.