Madison's story begins with her birthday, March 29, 2001, it was a Thursday morning when the nurses and doctors began to prep for her arrival (a planned c~section…mom has a bicornuate uterus ~ didelphic and was having problems with blood pressure). Of course, we didn't know she was a "her" until her actual moment of delivery at 12:26pm. What a beautiful sight…WE HAD A BABY GIRL!! My excitement can't even be expressed through words...I was speechless which doesn't happen often! Her daddy in Heaven!

She was a peanut at 37 1/2 weeks gestation, 5lb. 10 oz. And only 18 inches long, but she was perfectly healthy. She was able to nurse after some training and was going to the bathroom just fine. She had a full head of dark brown hair and the most beautiful skin for a baby!! We were released 3 days later. NO CONCERNS!!  The drive home was wonderful...Scott and I were thrilled...we even stopped at Babies R Us to get some cute preemie clothes...the only thing that fit her for the first 3 months.

Madison was the best baby, much like her older brother Chris. She slept through the night from about 6 weeks old, took 2 naps a day each about 3 hours, never fusses, was happy watching the world pass her by!! I am content in knowing she is happy, she has this great personality and smiles a lot…even started giggling (a little delayed and only at her brother). She was a quiet baby and didn't coo very often…but I hear EVERY BABY IS DIFFERENT so I just went on raising my precious angel!  < On a side note: I'm happy to say that Madison at 6 years old isn't quiet anymore!!!!!>

I guess my concerns about Madison began at about 8 weeks (I kept them to myself), I would wonder why she wasn't lifting her head well. She had very little head control; my son at her age was just about rolling. At 16 weeks, Madison still was not rolling and could only lift her head enough to turn it side to side. At her well check up (July 01) I mentioned my concerns to her pediatrician. Her doctor examined her carefully and said let's "WAIT AND SEE"; we'll see how she's doing at her 6-month appointment.

In the meantime life goes on…BUT…now I noticed every baby and would compare them feverishly! Why is that baby rolling? Mine's not! I guess my gut feeling was really telling me that SOMETHING WAS WRONG…but I didn't want to believe it…I figured if I just ignored it…IT WOULD GO AWAY…RESOLVE ITSELF!

The next two months went very slowly and by the time her 6 month appointment drew near our HMO had changed…WE HAD TO CHOOSE A NEW DOCTOR!!

I took Madison to her first check up (October 2001) and this time things were completely different. This doctor examined her and said she needs to see a neurologist…MY HEART BROKE!

He believed that she could have Cerebral Palsy and began questioning her birth, my pregnancy, her habits, etc. I could barely speak. Thankfully, I didn't come to this appointment alone; my mother in law came with me. I COULDN'T SPEAK, LET ALONE DRIVE HOME…I CRIED THE WHOLE WAY!

Upon our arrival home I began to make phone calls…the office had given me names of a few pediatric neurologists…I HAD TO MAKE HER AN APPOINTMENT. The appointment I got was January 2002…HOW COULD WE WAIT THAT LONG KNOWING THAT SOMETHING IS WRONG WITH OUR DAUGHTER? I called her doctor and he agreed that waiting 3 months was too long for Madison…he got her an appointment at Children's Hospital of Philadelphia…2 DAYS LATER!

I think this was the LONGEST 2 DAYS OF MY LIFE…I cried each night. The reality of Madison's problems seemed to hit me in the middle of the night, of course I was only dreaming up all the things that could be wrong…LEARNED EVERYTHING ABOUT CEREBRAL PAUSYin those 2 DAYS! The Internet was now my best friend…it just wasn't for shopping at GAP or selling on EBAY…it was for research and support!

Finally, we met with her Neurologist at CHOP, a nice young doctor. He examined her from head to toe…"she is severely HYPOTONIC! WHAT? HYPOTONIA, she has HYPOTONIA!" He wouldn't, couldn't answer a paranoid mother's questions…WILL SHE EVER SIT, WILL SHE EVER WALK, WILL SHE TALK? He could only say we have to "WAIT AND SEE". The doctor scheduled Madison for many, many tests, ordered her to have PT, and told me to call EARLY INTERVENTION!

THUS, our nightmare began…needless to say I cried the whole way home from the hospital. Couldn't wait to get on the computer. HYPOTONIA (low muscle tone)…I read everything there was about HYPOTONIA…joined support groups…met other families…I felt like I was DROWNING and this was my only means of RESUSITATION! Hypotonia became my life…I felt like I caused this for Madison somehow…though I know that's not true. I kept wondering why no one had ever mentioned her low muscle tone before? Why at 6 1/2 months was I just finding out about this? My husband insisted that she'll be fine JUST DELAYED…boy was I wishing for that!! On some level I still pray for this today...reality is... that it isn't happening, not now at 6 years old or ever.

Hypotonia in short means low muscle tone. I have been taught to understand that there is a large spectrum of muscle tone, not to be confused with strength (a mistake I made in the beginning) and each person falls into the spectrum somewhere. Individuals with "normal" tone have differences…my tone may be lower than yours but yet still in a "normal" range. Madison's tone is very low ~ below what is considered "normal". Encouraging news is that you can have low tone (which can't be changed) but increase the muscles' strength. We are working through therapy to increase Madison's muscular strength. <Presently at 6 years old all signs of Madison's hypotonia are gone.  Her balance and coordination problems are because of the cerebellum atrophy.  She would be strong enough to walk independently if she had the balance.>

Over the next few months Madison started with therapies…Physical therapy both privately and through Early Intervention. Her neurologist ordered many different tests. I thought waiting 2 days was long…how about 5 weeks for certain test results and nearly 6 months for others. Most of Madison's testing came back normal in the beginning. Hypotonia is normally a symptom of a disease or syndrome however, we were relieved thinking that this was benign and something she would eventually outgrow…"she'll catch up by the time she is three!" Of course, this was our hope for a very long time …each child with hypotonia is different and they meet their milestones very differently.

The beginning of November 2001 saw us back to the neurologist for the various results of the MRI and blood work. Madison was also able to see a muscle specialist who told us that her reflexes were good which meant she probably didn't have a muscular dystrophy.

A new symptom dyspraxia was added to her laundry list of ailments. So knowing me by now you realized that…I CRIED ALL THE WAY HOME…feeling sorry for Madison, my family, MYSELF! The relief I felt after looking up dyspraxia on the computer…UNCOORDINATION. I know Madison is uncoordinated…I see, live and breathe it everyday! I WANT TO KNOW WHAT IS CAUSING IT AND HER DELAYS! Why the doctor can't just use layman's terms is beyond me but they can sure make you crazy with terminology…

So basically, in December (2001), I have a 9 month old…she can't roll, can't sit, can't crawl, doesn't babble much and barely has head control…AM I SCARED…OH YEAH!! Everything…I envisioned about raising our baby girl…is TOTALLY DIFFERENT…as other baby girls are pulling themselves up, cruising and wearing PARTY DRESSES…my daughter struggles to keep her head up for more than a few minutes at a time.

Now to gain persepective I realize...my dreams are different, yes…my expectations are changing, but Madison has brought so much love and appreciation into this family that a day doesn't go by that I'm not grateful we have her…and while sometimes those differences hurt...sometimes a lot...SHE IS PERFECT IN MY EYES (and his)! 

Moving along with Maddie's story…more doctors, more tests…everything negative…then BOOM!! THE PHONE CALL!! It's winter, February (2002~Madison is 11 months old), and we get a call that we've been preparing for since last October. "Hello, Madison's labs came in and they are abnormal…possible MITOCHONDRIAL / METABOLIC DISORDER." WHAT? I've read about them…other kids have them…but our Madison?? Couldn't be! I thought we'd be prepared for a phone call like this but truth is YOU NEVER ARE. 

Madison had some repeat testing showed the same…evidence of a MITO / METABOLIC disease. Doctor called it an "Inborn Error of Metabolism". Some of these disorders and diseases compromise the quality and longevity of life.  We are hoping that in Madison's case it is a minor strain that we will be able to control to some extent and avoid any permanent damage.  Our neurologist doesn't know? Her pediatrician can only offer me support…everyone is stumped. Madison doesn't really fit the profile…this would explain why she vomits so easily. But she isn't fitting neatly into a specific disease.

 She'll see Dr. DeVivo at Presbyterian Medical Center who we have a consult with in November 2002.  She is having more testing…stimulation studies, as soon as insurance approves them. It is obviously not a cut and dry diagnosis, metabolic and mitochondrial disorders are a relatively YOUNG field of study. 

Madison and Christopher were recently seen by a Geneticist. We didn't like to hear what she had to say about our children.  She was able to point out many more dysmorphic features and basically believes...Madison will have some degree of mental retardation associated with a syndrome. 

Christopher was diagnosed with a mild case of Ehler's Danlos Syndrome with no relationship to Madison's problems.

We're doing things on our own that may or may not help her while we're waiting for a proper diagnosis…we began mixing her foods with soy protein…said to be very good for muscles. Madison is "failure to thrive" so we supplement her diet with the Pediasure, Neutren JR and Carnation Instant Breakfast to boost her calorie intake…she has a gagging / vomiting condition which makes certain table foods impossible but giving the supplemental bottles really allows her to get a good amount of food…her problem isn't really with the amount she eats (she eats a lot) but her body isn't using her foods properly so she's not gaining weight (she's teetered between 16 & 17 lbs. for nearly 5 months now). I also mix high fat things with her baby food to boost them up. I try to add Oatmeal to everything for texture stimulation…she won't eat mixed textures…a sensory issue. Both children are now on Flaxseed Oil. 

She continues with lots of therapy…PT twice a week, OT twice a week, Speech therapy once a week (gearing toward oral motor practice for now), and cognitive therapy. We also work with her everyday…now that its summer we spend a lot of time working in the pool and river. Madison loves the water.

For now...while we are waiting for a dx...therapy is what helps...so this is the focus.

The "GOOD NEWS" (yes there is good news) is that Madison is still moving forward…she is still progressing "Maddie's Time"…slowly and not so steadily but she is meeting her milestones. She rolled over 2 days before her first birthday, she began to commando crawl (almost 15 months) 2 days before my son's birthday (8), at almost 16 months she can tripod sit for about 60 seconds with help, and she can tolerate more textures in her mouth…FINALLY, SOME REAL FOOD! Madison has been molded for DAFO's (Dynamic ~ ankle foot orthosis) for her legs...

We also got Madison a  special chair to help with sitting...we paid out of pocket...we bought the cheapist one...but it works fine.  Two awesome pieces of equipment (see physical therapy page).  The DAFOs have really helped her increase her weight bearing and the sitter (from ABILITATIONS) is so versatile that the therapist wants one for his rehab.

Her FUTURE…I don't know…will she eventually sit…will she ever crawl normal…will she stand…will she walk…will she ever call me MOMMY…will she ever eat like a normal child…will she go to kindergarten…will she have a boyfriend…will she go to the prom…get married…make me a grandma? I DON'T KNOW…and trust me…I've spent COUNTLESS hours focussed on those very same questions…I've even spent hours in the middle of the night figuring how to make our home WHEELCHAIR ASSESSIBLE…I'm learning that focussing on the WHAT IFS aren't helping her.

INSTEAD…I'm trying to focus on what I do know. I do know that, I, as her parent am doing everything I can for her…providing her with an array of therapies professional and within our home. I no longer blame myself for her delays, I know that whatever happens to my daughter I have given her the best chance, I know that I, WE, are loving her more and more each day, I know that she loves us and tells us each day with those beautiful smiles and hilarious giggles! I do know and cherish everything she has brought to our lives…understanding, appreciation, devotion, and a new education. I do know that life before Maddie was… in one word…

INCOMPLETE!