Comparing Developmental Milestones of Twins
My late wife Zelda was pregnant in 1974! This was our first pregnancy! Zelda was under the care of her obstetrician.
She visited her doctor for all appointments. Everything was normal.
Hence, on Valentine’s Day, her water broke. With excitement and anxiety, we rushed to the hospital. Like Jackie Gleason said, “AND A--WAY WE GO-O-O-O-!!”
Overjoyed with the news of twins
Zelda needed a Caesarian Section. We were surprised when the doctors told us that they heard two heartbeats. Twins!
“There was no more room in the womb”, I joked. At six weeks prematurely, she delivered our children.
As a matter of fact, Jessie and Lane were born one minute apart! Overjoyed! [So was the layette salesman, who happily doubled the pending order!!]
Comparing developmental achievements of twins
Fast forward ahead 3 months, we saw that Jessie was not meeting Lane’s developmental achievements. To be specific, she was a very "floppy baby” [hypotonia].
Additionally, She couldn’t turn over by herself. Moreover, she was unable to lift her head or hold her bottle by herself.
However, Lane was developing normally. Therefore, I was charting my own control study as to what was typical vs. non-typical development between my children.
We then mentioned these concerns to her pediatrician. He stated, that since they were preemies, Jessie should probably catch up to Lane at 6 months old. Hence, we impatiently waited.
A misdiagnosis for our daughter
As recommended, we took Jessie to a pediatric neurologist, at a premiere New York City hospital, who unfortunately misdiagnosed her.
This doctor based his findings on placing a cloth on her face. Jessie did not remove the cloth. On that 'scientific test,' he told us that our daughter was severely mentally and intellectually handicapped.
This pediatric neurologist incorrectly stated that that was why she couldn’t meet those milestones. Furthermore, he told us to put her into a pediatric nursing home and get along with our lives.
Thankfully, how wrong he was! We started on our long journey of caring for Jessie and trying to find the reason she was so "floppy."
A correct diagnosis of SMA
We needed a second opinion at another hospital. The doctors there said she had a neuromuscular disease. The doctors directed us to the Neuromuscular Disease Center at the NYU Medical Center.
Finally, Jessie received a correct diagnosis of Congenital Hypotonia Benign and Spinal Muscular Atrophy [SMA]. The pediatric neurologist told us about early intervention therapy.
Beginning physical and occupational therapy
This consisted of physical and occupational therapy, twice weekly. It continued for many months at NYU with excellent care.
Subsequently, Jessie received physical and occupational therapy at home. Jessie was then able, for a brief time, to take steps with the aid of braces!
To summarize, Jessie was always treated just like all the other children. In fact, she went to a regular school. She excelled in school.
There was a reason that we were Jessie's parents
Overall, I felt it was like the Higher Powers that be, chose us to be Jessie’s parents. Consequently, we felt He judged us to be the best family to take care of her needs. [Which we felt was true.]
As noted previously, I compared the developmental milestones between our children to normative data. This gave me a snapshot picture of what was typical vs. non-typical behaviors.
By speaking to our pediatrician about what we saw developmentally, he asked us to make an appointment with a neuro-specialist for further testing.
Missing our daughter
Lastly, many years later, on Jessie's bucket list, was that she wanted to graduate high school. She met her goal and received her diploma.
Sadly, a week later, at 17 years old she passed away. She is sorely missed.
SMA research has come a very long way since 1974. With advances in testing, medical and drug intervention, people are living longer productive lives.
Have you, or someone you know been diagnosed with SMA?