A Peek Into Bella's Life

The past year and a half has been something that I can barely even begin to explain. It has been sad, terrifying, happy, exciting, confusing, overwhelming and most definitely heartbreaking. I have been contemplating starting this blog for a LONG time and have finally decided that it is time for me to let all of this information that is locked up in my brain, flow freely. This is for our friends, family and the rest of the world to learn about our Bella. Her past, future and present. I want future mothers of children like Bella to learn from my blog. Learn how to cope, learn what to ask doctors and learn how to open up and share their child's story as well. This will be a place for me to cry, a place for me to express our frustrations and excitements, and a place to share :)

Bella's birth story will be for another day. For now, I will start with Bella's struggles and diagnoses.

Bella was born on July 5th, 2011 with SMMCI Syndrome and Pyriform Aperture Stenosis. She has one single large top tooth instead of two (her two top teeth are basically fused together). She has narrowed nasal passages, a low palate, feeding difficulties, weight issues, central sleep apnea, spasticity and hypertonia (increased muscle tone). Bella's recent lumbar puncture showed that she had a deficiency in Pyridoxil 5 Phosphate concentrate which can relate to Epilepsy, but we do not know what this means for Bella yet as we do not believe that she has been having any seizures. It has been recommended by a few specialists to test for PNPO gene.

We do not know much about Bella's current diagnoses, but we do know that she has the midline syndrome (SMMCI) and some sort or muscle issues. We do not think that these two issues are related, and that in-fact she will end up with two "separate" main diagnoses.

SMMCI is an extremely rare diagnosis, and very little is known about it. It is estimated to occur in 1:50,000 live births. Nasal obstructions occur in about 1:8,000 live births, and out of those, about 1/3 are Pyriform Aperture Stenosis. To give you an example of how rare this is, Autism occurs in 1:150 births and Cleft lip/ Palate occurs in 1:600 births.

Bella has been in PT and OT for 7 months now. She is starting developmental therapy tomorrow, and speech therapy later this month.

Bella underwent surgery in December, just shy of 5 months old, to try and repair her nasal obstruction. It has relieved some symptoms, but she is still not where we would like her to be. Daily life is a struggle for the whole family and we are uncertain what Bella's future will look like. We do know that she is LOVED by so many, and that her biggest cheerleader is her big sis, Kallie! This has been a long journey for Bella. She has gone through so many tests and procedures to try and give us, and her doctors some insight into our sweet girl. We know that we are nowhere near the end of unraveling God's gift, but he sure did bless us with an angel :)

Over the next several weeks, be prepared as I am going to pull all of this jumbled information off of my brain and share Bella's birth story as well as her 1st year of life!