My wife and I had been married for three years when we decided to start a family.
To prepare for this life-altering event, we moved across the country to find jobs that were stable and a city we felt was safe to raise a child. Once the decision was made to begin trying, we got pregnant almost immediately. Like all expectant parents, the next nine months were exciting; we decorated our nursery, bought cute baby clothes and toys, read every baby book Amazon had, and worried about being good parents.
It was a wish come true when we learned the baby was a girl since that's what Jaime and I both wanted. We decided to name her "Nora" because we both liked the name and "Madison" was just too common at the time (Nora's middle name is Madison, though, because that's where Jaime and I met - Madison, Wisconsin). Nora was an extremely active baby "in utero." She would get hiccups almost daily and kick and punch the daylights out of Jaime's belly. As the birth date crept closer we began dreaming about who she would look like or what it would be like the day she graduated or got married. These daydreams became a frequent welcome distraction as the excitement grew.
The day our daughter arrived was simply amazing.
This was our first child, so the thrill of Jaime's water breaking and the subsequent heart-pounding rush to the hospital was surreal. "Was this really happening?" "Are we about to be parents?" Our daughter came out around 1:40 am and we named her "Nora." Nora kicked and screamed and did everything a normal newborn does. She was so beautiful and we were parents now.
In the following days, Nora passed all of the newborn screening tests with flying colors. We were even able to take her home early. While there was a considerable amount of re-adjusting, we had almost instantly fallen in love with being parents. Things began to change around Nora’s two month checkup. Nora’s pediatrician noticed that the muscle tone in her legs was underdeveloped. Not having any other children, we were not keen to these developmental delays. Without alarm, we were simply instructed to continue a daily tummy time routine and told that “all children develop at their own pace.” Following that visit, we practiced tummy time constantly. We peddled and exercised her legs constantly, determined to get our daughter back on track as quickly as possible. After four weeks, there was no improvement; in fact, there was less movement.
We knew then that there was something seriously wrong with our perfect baby.
We began to study everything we could about infants being weak and came across a condition called hypotonia. We re-doubled our exercise efforts and vowed we would get whatever this is fixed. Around that time we had a play-date with friends whose child was two weeks younger than Nora. We watched in horror as the children laid side-by-side, and we realized Nora had stopped moving her legs. We knew then that there was something seriously wrong with our perfect baby. Nora was now 4 months old when we returned to the pediatrician’s office. They finally took us seriously. They now suspected Cerebral Palsy and referred us to a neurologist at the local children's hospital. I remember crying on the drive home thinking this was the worst moment in my life - I had no idea what was coming...
He moved to her elbows and also got nothing - Nora had lost her reflexes.
At the neurologist's office, scared out of our minds,the doctor pulled out his reflex hammer tapped her left knee... nothing happened. He tapped the right and again, nothing. He moved to her elbows and also got nothing - Nora had lost her reflexes.
We needed a sedated MRI to confirm Cerebral Palsy and, witnessing Nora's breathing, the anesthesiologist didn't feel comfortable sedating her. He called for the neurologist and relayed his concerns. I overheard them in the hallway, saying "I'm fairly certain she has SMA (Spinal Muscular Atrophy)." After we confronted the neurologist, we changed plans and took some of Nora's blood to send off to confirm SMA. We had done some reading about SMA weeks before but discounted it because the symptoms didn't seem to match exactly. We knew it was a permanent disease for which there is no cure or treatment. We expected Nora to be handicapped her whole life, possibly bound to a wheelchair. What we didn't expect was that her life would be cut short.
We had to wait three agonizing weeks for the SMA test results. It was around 5pm on a Friday when the results came in, and they told us Nora was going to die. We had received the horrific diagnosis of SMA Type I. A Type-1 child in SMA terms is considered the most severe and is terminal. Life expectancy was around two years.
We had to put a feeding tube in her belly so she could eat
We began to spend every possible minute with Nora. Our primary goal was — and is — to make sure she is happy and comfortable all the time. We have slowly come to accept the fact that Nora will never walk, never sit, may never talk, and will most likely die within 5 years. SMA is a degenerative disease, meaning that the longer she lives the weaker she will become. This became evident when, at 6 months old, Nora began choking on her feedings. We were informed that she had begun to lose her ability to swallow. We had to put a feeding tube in her belly so she could eat. The worse part was, because she choked, she got food into her lungs and developed an infection which caused pneumonia. We came close to losing her and she was hospitalized.
Because every muscle in her body is weak, she struggles to breath. She is not strong enough to cough, so we must cough for her with a machine. She also needs a machine called a BiPAP which helps push air into her lungs while she sleeps. As the disease progresses, she may have to be on this BiPAP full time. We have to carry a suction machine with us at all times because Nora, who no longer swallows, chokes on her saliva, so we suction her mouth frequently.
Now, Nora has tens of thousands of dollars worth of medical equipment in her nursery. Now, her room resembles a hospital room. And if this wasn't enough heartache, the hospital bills and medical bills keep coming in, so we are always fighting with insurance claims and medical equipment providers for the care Nora now requires. Out of sheer desperation, Nora was enrolled in a clinical drug trial to test a medication that may only slow the muscle deterioration. The primary side effect of liver failure was the least of our worries. The drug did not provide any benefit though. The FDA has yet to approve stem cell therapy in the United States, so currently, there are no treatments for SMA. We had considered taking her overseas for stem cells in hope of extending her life, even if just for a few years. But, Nora's weakness and dependency on her equipment makes us unable to fly on a commercial airline.
Nora will lose her battle with SMA.
Even if they somehow developed an SMA cure tomorrow, Nora's window of opportunity has already closed. Any cure that would be developed would be to prevent the disease, not to reverse the condition. Nora will lose her battle with SMA. We can do nothing to stop it, only continue to work to delay it. It has become our mission to spread the word about SMA and share Nora's life. We also believe it is our responsibility to increase awareness of SMA among those families planning to have children someday.