Wednesday, April 13, 2011

Lanie's Story

On July 14, 2007, I was blessed with a beautiful baby girl. She weighed 7lbs 1 oz. I had a complication-free pregnancy and delivery. Her newborn screening was normal and I took my sweet girl home after a couple days in the hospital.  Lanie experienced reflux after her very first feeding.  We made an appointment with the pediatrician to discuss my feeding concerns. Besides her reflux, the doctor could tell that Lanie was not developing properly. She appeared "floppy" and was not reaching her milestones, like holding her head up. The doctor described Lanie as being hypotonic. Hypotonia is a condition that affects her muscle tone. Hypotonia is a state of low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.
The doctor ordered a cat scan and MRI of her brain. The tests were normal. We repeated her newborn screening, which also came back normal.

Hypotonia is a condition and not a diagnosis alone. It can be linked to many disorders and diseases. To rule those diseases and disorders out , Lanie has undergone years of testing. She had neurological, metabolic, and genetic testing done, all of which came back normal.   Waiting around for test results has been so hard and stressful. I am so relieved that all of her tests came back normal. However, it leaves me wondering what the future will hold for her. Will she walk? Will she talk? It leaves me with so many questions.  I don't know why she was born this way.  I have two other children  that don't have any health problems. Regardless, my duty is to be Lanie's advocate. I will never give up on her! I am optimistic that she will continue to make progress. 

Lanie was recently diagnosed with Autism due to her repetitive behaviors. She is nonverbal and does not make good eye contact.  We recently stared using the PECS system to help her communicate.  For example, she can make a choice by choosing between two pictures.

Cerebral Palsy
Lanie was recently diagnosed with Cerebral Palsy in July of 2014. She has a mixture of Hypotonia and Hypertonia. She has a lot of  spasticity in muscles, which makes her legs very stiff.   Furthermore, she has contractures of the knee which causes her legs to be bent. To help reduce the spasticity, Lanie receives botox injections in her hamstrings. In the summer of May 2014, she also received full serial casting, which she wore for 6 weeks to help straighten her legs. However, the procedure was unsuccessful.

How Do These Conditions Affect Lanie?
Lanie's symptoms affect her in many aspects.  She has a global developmental delay. It affects her motor skills and her speech.  Also she has feeding and sensory issues.  She is farsighted  and flat-footed. She has glasses (but will not leave them on) and full leg braces. She can take steps, using her gait trainer,  and can stand for short periods. She continues to make progress slowly. She can not walk independently yet. We are working very hard to get her walking! However, she can get around the house.  She is able to crawl and walk on her knees. 
Hypotonia affects her speech as well. She babbles and says "mama".  We are working on her speech. She knows a few signs, like book and more. 

Furthermore,  Lanie is currently enrolled at Lifescape, which is a school that offers specialized instruction. While she is at school, she receives all her therapies (physical therapy, speech therapy, occupational therapy, aquatic therapy, and standing therapy) and has a nurse to administer her medicine and feedings.   She is a busy but happy girl! :)

It has been awhile since I posted. However, I am happy to write that after years and years of testing, we are finally getting closer to the cause of Lanie's disorder. :) With advances in genetic testing, researchers were able to pinpoint the cause of her disorder. Geneticists found a mutation on Lanie's X Chromosome, specifically on the gene which is called gene DDX3X. Not only did researchers find this mutation on my daughter's gene, but they found it on the genes of 12 other girls that were tested at the same lab. All of the girls with this mutation have very similar characteristics.  Furthermore, this genetic disorder in not inherited from parents. It occurs sporadically and happens during conception. Lanie's doctors are optimistic that this disorder will have a name within one year. It is also their belief that this disorder might be more common.  Most likely it will be named after the gene. However, I feel like I am getting closer to obtaining closure. I believe this is god's will. He blessed with me with such a beautiful and unique daughter. :)

I created a page in hopes to connect with parents who have children with this same disorder. Please feel free to check it out. :)

Although her progress is slow,   I am optimistic that she will continue to improve and make progress.
 Lanie's condition affects her feeding.  She does not tolerate many textures and has a strong gag reflex. Due to poor weight gain and feeding issues, she  had a G-tube placed to help her obtain the proper nutrition. Also she had a fundoplication to stop her reflux.

Lanie at the hospital for a g-tube and fundoplication. MARCH 2011.  

Lanie in her new gait trainer. (September 2014)

About Lanie
Despite the many obstacles that Lanie faces, she has such a positive attitude. She tolerates therapy really well. She is such a strong girl!! Lanie is my inspiration!!!She is angelic and loves to cuddle. 
She has the sweetest smile and the best giggle!

She absolutely loves music! She loves to play with toys that light up and play music. Also she loves to watch "Dora" and "Yo Gabba Gabba''.