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.