goodentree

a celebration of Nora's life.

Nora was born with a terminal genetic disease called Spinal Muscular Atrophy (SMA).
At 6 years, we had to watch SMA take nearly everything from Nora.  

This site is her legacy, so when she's gone, this will remain to tell her story.

We truly appreciate all your messages and comments. 

The goodentree story

The goodentree story

The background behind the website and our family. How three letters brought our carefully planned lives crashing down.

Learn more

The Nora News blog

The Nora News blog

See Nora's recent adventures and activities with pictures and video. This is our blog, where we speak freely about our fears and the struggle of raising an incredibly smart, yet terminal child.

We are not afraid of words or language, so if you're sensitive about honesty and occasional colorful language, this site is going to be a big bummer for you.

Nora News blog

What is SMA?

What is SMA?

Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common "rare disorder": approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.

SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal, and it is often observed that patients with SMA are unusually bright and sociable. Patients are generally grouped into one of four categories. The determination of the type of SMA is based upon the physical milestones achieved. It is important to note that the course of the disease may be different for each child.

TYPE 1

(what Nora has)


Type I SMA is also called Werdnig-Hoffmann Disease. The diagnosis of children with this type is usually made before 6 months of age, and in the majority of cases the diagnosis is made before 3 months of age. Some mothers even note decreased movement in the final months of their pregnancy.

Usually a child with Type I is never able to lift his or her head or accomplish the normal motor skills expected early on in infancy. They generally have poor head control and may not kick their legs as vigorously as they should or bear weight on their legs. They do not achieve the ability to sit up unsupported. Swallowing and feeding may be difficult and are usually affected at some point, and the child may show some difficulties managing their own secretions. The tongue may show atrophy and rippling movements or fine tremors, also called fasciculations. There is weakness of the intercostal muscles (the muscles between the ribs) that help expand the chest, and the chest is often smaller than usual. The strongest breathing muscle in an SMA patient is the diaphragm. As a result, the patient appears to breath with their stomach muscles. The chest may appear concave (sunken in) due to the diaphragmatic (tummy) breathing. Also due to this type of breathing, the lungs may not fully develop, the cough is very weak, and it may be difficult to take deep enough breaths while sleeping to maintain normal oxygen and carbon dioxide levels.

TYPE 2


The Diagnosis of Type II SMA is almost always made before 2 years of age, with the majority of cases diagnosed by 15 months. Children with this type may sit unsupported when placed in a seated position, although they are often unable to come to a sitting position without assistance. At some point they may be able to stand. This is accomplished with the aid of assistance or bracing and/or a parapodium/standing frame. Swallowing problems are not usually characteristic of Type II, but vary from child to child. Some patients may have difficulty eating enough food by mouth to maintain their weight and grow, and a feeding tube may become necessary. Children with Type II SMA frequently have tongue fasciculations and manifest a fine tremor in the outstretched fingers. Children with Type II also have weak intercostal muscles and are diaphragmatic breathers. They have difficulty coughing and may have difficulty taking deep enough breaths while they sleep to maintain normal oxygen levels and carbon dioxide levels. Scoliosis is almost uniformly present as these children grow, resulting in need for spinal surgery or bracing at some point in their clinical course. Decreased bone density can result in an increased susceptibility to fractures.

TYPE III


The diagnosis of Type III, often referred to as Kugelberg-Welander or Juvenile Spinal Muscular Atrophy, is much more variable in age of onset, and children can present from around a year of age and even as late as adolescence, although diagnosis prior to age 3 years is typical. The patient with Type III can stand alone and walk, but may show difficulty with walking at some point in their clinical course. Early motor milestones are often normal. However, once they begin walking, they may fall more frequently, have difficulty in getting up from sitting on the floor or a bent over position, and may be unable to run. With Type III, a fine tremor can be seen in the outstretched fingers but tongue fasciculations are seldom seen. Feeding or swallowing difficulties in childhood are very uncommon. Type III individuals can sometimes lose the ability to walk later in childhood, adolescence, or even adulthood, often in association with growth spurts or illness.

TYPE IV


In the adult form, symptoms typically begin after age 35. It is rare for Spinal Muscular Atrophy to begin between the ages of 18 and 30. Adult onset SMA is much less common than the other forms. It is defined as onset of weakness after 18 years of age, and most cases reported as type IV have occurred after age 35. It is typically characterized by insidious onset and very slow progression. The bulbar muscles, those muscles used for swallowing and respiratory function, are rarely affected in Type IV.

Patients with SMA typically lose function over time. Loss of function can occur rapidly in the context of a growth spurt or illness, or much more gradually. The explanation for this loss is unclear based on recent research. It has been observed that patients with SMA may often be very stable in terms of their functional abilities for prolonged periods of time, often years, although the almost universal tendency is for continued loss of function as they age.

goodentree Story

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.

Jaime Pregnant
Pregnant bed
Pregnant couch

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.

Nora newborn
Nora Newborn2

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 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...

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.

Nora Diagnosis
Diagnosis Jaime
Diagnosis TJ

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.

Hospital1
Hospital2
Hospital3

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.

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 my 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.

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