Welcome to our Caring Bridge website. We are using it to keep family and friends updated in one place on Presley’s medical condition.
At Presley’s two month check-up, the pediatrician made note in her chart that she showed signs of Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Around that time, Lacy noticed that Presley wasn’t reaching for things, make big movements as well as her right arm was resting to her side in a turned in manner. Rather than letting all of these factors be revisited at another well check visit months later, Lacy insisted that Presley be seen again by the pediatrician to make a further determination of her muscle growth. It was then that they were referred to a pediatric neurologist.
In preparation for her upcoming neurology appointment, Lacy and Bill took Presley to Children’s in Omaha for an MRI on April 27th. It was then discovered that there was a small, but self-healing, subdural hematoma. They were admitted and monitored for a day. The hospital released them that weekend and told them to still go to their appointment with the neurologist.
On May 1st, Dr. McAllister ordered genetic testing to be done. On May 5th, Lacy and Bill were given the diagnosis of Spinal Muscular Atrophy, Stage 1.
What is Spinal Muscular Atrophy (SMA):
[SMA type 1 is the most common type of SMA and is also a severe form of the disease. Infants with SMA type 1 experience severe weakness before 6 months of age and never sit independently. Muscle weakness, lack of motor development and poor muscle tone are the major clinical manifestations of SMA type I. Infants with the gravest prognosis have problems sucking or swallowing. Some show abdominal breathing in the first few months of life. Muscle weakness occurs on both sides of the body and the ocular muscles are not affected. A twitching of the tongue is often seen. Intelligence is normal. Most affected children die before two years of age but survival may be dependent on the degree of respiratory function.]
https://rarediseases.org/rare-diseases/spinal-muscular-atrophy/ While this news was devastating to hear, there was hope. With the possibility of this disease looming over their heads, family and friends did personal research into the disease. The findings were nothing short of amazing. JUST THIS YEAR, the FDA approved a drug that has been quoted as being “a life changer.” Yes, LIFE!
What Sprinraza is:
[Spinraza (nusinersen), the first drug approved to treat children and adults with spinal muscular atrophy (SMA), a rare and often fatal genetic disease affecting muscle strength and movement. Spinraza is an injection administered into the fluid surrounding the spinal cord]
https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm534611.htm How Sprinraza will help:
[SPINRAZA is an antisense oligonucleotide (ASO) that is designed to treat SMA caused by mutations or deletions in the SMN1 gene located in chromosome 5q that leads to SMN protein deficiency. SPINRAZA alters the splicing of SMN2 pre-mRNA in order to increase production of full-length SMN protein.8 ASOs are short synthetic strings of nucleotides designed to selectively bind to target RNA and regulate gene expression. Through use of this technology, SPINRAZA has the potential to increase the amount of full-length SMN protein in individuals with SMA.]
http://media.biogen.com/press-release/neurodegenerative-diseases/biogens-spinraza-nusinersen-receives-positive-chmp-opinion- Presley’s neurological team will have the ability to begin administering this life changing drug in mid-June, however, because this is a time sensitive situation, they would like her to begin treatment as soon as possible to prevent the deterioration from happening. The team has identified the Children’s Mercy Hospital in Kansas City as the facility that will begin the process.
Details have yet to be determined, as the family will travel to Kansas City on May 15th to complete the initial assessments with the neuro team in KC. From there, more information will be known.
In the meantime, friends and family want to know; “what can I do to help?” We are in the very early stages of planning a fundraising event as Spinraza is known as the ‘most expensive drug on the market.’
Another post will follow addressing “what can I do to help?”
Lacy, Bill and Presley truly appreciate your love, support and prayers.
http://www.curesma.org 
