Ashleigh's Fight Against SMA

Ashleigh's Story

Kristen and Brian Jacques were married in June 2006. They had their first child, Brianna, in Novemeber 2007. They had the perfect, fairytale happy life. They planned their next pregnancy to a tee. Everyone was so excited when she found out she was having another girl! Kristen loved being pregnant with both of her children. Her pregnanies were normal. During the last month of her pregnancy with Ashleigh, Kristen felt that she was not moving as much in her womb. She went for a stress test and everything checked out fine.

On August 18, 2011, Ashleigh Michelle was born. She was 7lbs 8oz and 22 inches. She was perfect and so beautiful! She had the cutest little quiet cry. Her apgar was normal and she fed immediately without any problems. Ashleigh was sent home with a perfect bill of health. Her sister Brianna absolutely adored her new sister and smothered her with love! Everything was perfect!

When Ashleigh was about 3 months old, her parents noticed her continued lack of movement in her legs, her upper arms and her weak neck muscles. She did not reach out for toys or move her arms above her head. She smiled often and began to babble. Early Intervention began therapy with Ashleigh to try to improve her weak muscle tone. Ashleigh did not like being placed on her belly at all. We thought she would strentghen her neck muscles and begin to hold her head up and side to side. She always had a big belly with an indent in her chest looking bell shaped and she seemed to always "belly breathe". The nurse at her Peditrician's office did not seem concerned. She went for her Doctor checkups as needed for routine shots and as suggested for her age.

Ashleigh was breast fed for a few months and was then put on formula. She had always spit up a lot after her feedings but when she was about 4 months old, she started having trouble feeding. She would have some difficulty sucking and refused her bottle more often. She was introduced to rice cereal and then some stage 1 baby food. She enjoyed her food but feeding took a long time and she did not always want it. She tried different formula and prune juice to help alleviate some constipation that was often a problem. She was getting enough nutrients and was gaining enough weight so this was not a major concern since her parents were in contact with her pediatrician about the situation.

At about 5 months old, she was having her usually therapy with Early Intervention. She sounded congested and her chest had a rattle sound in it. She was breathing fast and hard. Her mother was concerned that she probably had a cold and took her to the Doctors that day. Her Doctor checked her oxygen saturation (o2 sat) level and it was in the 80's. Normal is 100 and the high 90's are considered good. Ashleigh and her mother were taken by ambulance to Children's Hospital in Boston and her father met them there.   

Ashleigh was admitted and was hospitalized for a total of 3 weeks in the Intensive Care Unit (ICU) and later transferred to the Intermediate Care Program (ICP). She was diagnosed with pneumonia. She had genetic testing to rule out any serious conditions. Spinal Muscular Atrophy (SMA) was one of those that were tested and was the worst case scenerio. It was going to be 3 very long weeks before the genetic testing results were going to be in. Throughout her hospital stay, she was monitored constantly for her o2 sat level, her heart rate, pulse, respirations and blood pressure. She also had a monitor for her PCO3 that measured her carbon dioxide level.

Ashleigh was put on a machine called a BPAP (bilevel positive air pressure) commonly referred to as BiPAP which is actually the machine itself which administers the BPAP. Two levels of pressure are applied, Inspiratory Positive Airway Pressure (IPAP) for inhaling and a lower Expiratory Positive Airway Pressue (EPAP) for easier breathing when exhaling. There are three components to BPAP. The flow generator which provides the airflow, the hose that connects to the generator, and a nasal mask called an interface which connects to Ashleigh's airway. At first she was using BPAP all the time except when she was being suctioned and cough assisted. Slowly she was able to only need BPAP throughout the night since her o2 sat would often decrease while she was sleeping.

Another machine that became part of Ashleigh's everyday life is her cough assist machine. This machine helps to clear secretions from the lungs by helping with her breathing. When she breathes in the machine gives her air to help expand her lungs. When she blows out the machine creates a force that pulls the air out of her lungs. This rapid change in pressure during the different phases of breathing helps make her cough stronger and more effective. This machine is extremely forceful and very unpleasant. Ashleigh does not like this machine at all.

After the use of her cough assist machine Ashleigh gets suctioned both nasally and through her mouth. She get suctioned frequently throughout the day and at night as needed. The suctioning helps remove secretions bought up by the cough assist and is used in between cough assist treatments. She is not able to cough, suck or swallow so her saliva needs to be suctioned about every 15 minutes when she is not on BPAP.

Due to her inability to feed, Ashleigh had a G-Tube surgically placed directly into her stomach. She receives all her nutrients and medications through her feeding tube. 

At the young age of 6 months, her parents received her genetic test results. Three little letters were going to change their lives forever. Ashleigh was diagnosed with Spinal Muscular Atrophy (SMA) Type I. One in 6,000 children are affected by this disease. It is a disease that affects Ashleigh’s muscles leaving her with limited mobility and also creates respiratory issues. As time progresses she will no longer be able to move at all. At this time there is no cure for this disorder. The prognosis is poor, 90% of babies die before the age of 2.

Ashleigh is currently 10 months old. She is on her BPAP machine throught the night and during the day when she naps. She requires frequent suctioning through her nose and mouth throughout the day and as needed at night. Her cough assist machine is used several times a day. She continues to receive all feedings through her G-Tube. She is constantly monitored for her 02 level. When her SAT's decrease she needs immediate rounds of her treatments and sometimes requires oxygen in addition to her BPAP.

She has been in and out of Children's Hospital several times due to Pneumonia and as precautions to prevent and monitor aspirations. She continues to babble and smile. She is overall a very happy baby. She has a staff of visiting nurses, therapists, doctors and interventionists that work closely with her. Her parents are amazing and are the best care givers to their baby daughter. Ashleigh's 4 year old sister has been dealing well with the situation thus far.

Ashleigh and her family want to spread awareness about SMA.                Our  goal is to raise enoguh funds to find a cure for SMA to save baby Ashleigh's life. Please help us in the fight against SMA!

Unfortunately Ashleigh lost her battle with SMA on November 12, 2012. Check back soon for the rest of her story. Thank you.