My Daughter Was Not Meeting Developmental Milestones

The story begins...My daughter, Jessica was born with spinal muscular atrophy [SMA]. She was a twin and my son did not have SMA. So, I was able to compare developmental milestones by comparing their motor functioning.

Jessie was a floppy baby. She was not able to hold her bottle, sit, roll over, crawl, or stand like her brother, Lane. I feared that something was not right! 

Since the twins were 6 weeks premature, my wife and I waited 3 months before we called the pediatrician. We saw little to no progress, thus, we made the call to the doctor.

He advised us to wait another 3 months and then go to a pediatric neurologist. That is when she was diagnosed with SMA.

What is spinal muscular atrophy?

Spinal muscular atrophy, according to the Muscular Dystrophy Association is a genetic disease affecting the central peripheral nervous system and voluntary muscle movement.¹ 

SMA is caused by a mutation of chromosome 5, the survival neuron [SMN1] which is necessary for normal motoric functioning. Additionally, SMA is caused by each parent being a recessive gene carrier of SMN1.²

How SMA affected my daughter

Jessie had the following features of congenital hypotonia benign or spinal muscular atrophy. She exhibited muscle weakness in her shoulders, hips, back, arms and legs.

Generally, she was a floppy baby. Hence, she was not meeting her childhood developmental milestones when compared to her able-bodied brother.

Other signs and symptoms

Some of Jessie's signs and symptoms were: increased muscle weakness, floppy arms and legs, breathing difficulties, dysphagia [swallowing issues], inadequate breath support for speaking, and scoliosis [curvature of the spine].

As her scoliosis progressed, due to weak core muscles, the curvature of her spine started to impede internal organs, such as the lung, heart, and swallowing dysfunction.

The next steps that we took

Jessie was not meeting the developmental milestones that were being reached by her brother. My daughter was diagnosed by a pediatric neurologist recommended by our pediatrician.

Firstly, he examined Jessie to rule out any delayed development caused by other conditions. Secondly, the pediatric neurologist recommended additional treatments. Thirdly, we immediately began early intervention with physical [PT] and occupational therapy [OT].

He felt that with early intervention, Jessie could possibly slow the progression of her disease, joint mobility, and contractures.

Moreover, therapists worked on providing Jessie with exercises to stabilize the decreased control of her head movement, breathing, floor mobility, rolling, crawling, and sit-to-stand activities.

In addition, Jessie developed scoliosis. Furthermore, as she got older, we took her to a pediatric orthopedist who ordered a personalized customized seating device for her to increase her core, balance, and stability.

The occupational therapist measured her for a custom electric wheelchair. An orthotist fitted her for a plastic body brace to slow the progression of her scoliosis.

Being proative after diagnosis

Accordingly, being proactive is imperative. Similarly, speak to your pediatrician about developmental milestones.

Likewise, early intervention is also important to help your infant physically. Lastly, be alert and aware of your infant. If changes are noted in eating, breathing, physical functioning, don’t wait and promptly call your pediatrician.

I was my daughter's staunchest advocate throughout her life. I was totally involved in her medical, educational, social, and emotional care.

Jessie was mainstreamed at our local school. She was able to graduate from high school, which was on her bucket list.

She was seen by doctors at the leading teaching hospitals that specialized in neuromuscular diseases. My daughter was MY special hero. I miss you, Jessie!