A compilation of blog posts from the summer of 2011.
The first is the blog of her birth and the remaining are blog posts leading up to her diagnosis of SMA Type 2.
Ella Sabine Casten
Her Birth
She'll melt every heart she meets...
Ella Sabine Casten, born on June 10, 2010.
Ella's sister and brother, Ava and Henry, were c-sections. According to our doctor, our third baby was to be c-section as well. We might've had a chance at a VBAC (Vaginal Birth After Cesarian) with Henry, but a VBAC2 (Vaginal Birth After 2 Cesarians) with this one was not going to happen~~ according to our doctor.
Lindsay signed up for pre-natal yoga. She had always desired to give birth naturally but accepted what had been told to her; as did I. Life went on. During yoga, Lindsay learned that a VBAC2 was possible and that she was a prime candidate for it. We talked. There was about 3+ months left in the pregnancy. We researched. We talked some more--to each other, family members, friends and strangers. We decided to go for it. We almost changed doctors to do so, but our doctor ended up supporting us (at least two of the four in the practice did). We hired a doula, Carrie. We prepared. We took a class taught by Carrie; The Bradley Method~we prayed, we practiced, we held on tight.
Lindsay went into labor on June 10th in the wee hours of the morning.
We spent as much time at home knowing that going to the hospital too early might make it too easy to get medications, which in turn, increased the likelihood of ending up in a c-section.
During the first few hours of labor, Lindsay was getting things ready to go to the hospital. Her mother came over and gathered Ava and Henry. Lindsay, Ella and Daddy were on their own.
We called Carrie and she was on her way. In the meantime, Lindsay began to really feel the pains of labor. we decided to go for a walk. Up to this point we had established a comfortable position for Lindsay as she leaned on me with each contraction. The leanings were becoming more frequent and the contractions more intense.
We walked around the block. lindsay made her last phone call to her friend and put her phone away. Ella was serious now; serious about getting out into the world. She needed her mommy and daddy to focus on this.
Carrie arrived and the three of us (really the four of us) worked into the late morning, taking the waves of contractions as they came. Holding on to each other and encouraging Lindsay.
The time came to go to the hospital. The drive there was surreal. Lindsay leaned on a pillow the entire ride with her eyes closed and her mind in concentration. She was working with her contractions; not against them.
The orderly offered her a wheelchair but Lindsay knew she had to keep moving. It took some time to reach the birthing room. We settled in and made some more phone calls.
Lindsay's sister arrived and wanted to stay for the birth. We welcomed her to be a part of this miracle.
Lindsay's contractions were very close and intense. She worked hard and knew she had to forego any medication.
The doctor wanted to "break her water". Lindsay said "no" simply because she knew that would cause more pain and then she would cave in to the medication...she didn't want the spiral effect to happen.
Since Ella was VBAC2, they required an internal monitor on her (a small monitor screwed into the baby's head) to make that if Lindsay's uterus ruptured they would be able to get that baby out.
At one point they couldn't get a reading on Ella; this made everyone quite nervous. The doctor came in and insisted on breaking the water. When he went to do so he found that Lindsay was 10cm dilated. He ordered her to push.
Lindsay pushed for 1.5 hours. Ella Sabine was born at 5:15 pm. weighing 7 lbs. 15 oz and 23 inches long.
She was born without any medications for Lindsay, she was born...brought into this world through the strength and love of her parents. Our 3rd child. Her middle name is her late grandmother's (from the Casten side) name.
We spent as much time at home knowing that going to the hospital too early might make it too easy to get medications, which in turn, increased the likelihood of ending up in a c-section.
During the first few hours of labor, Lindsay was getting things ready to go to the hospital. Her mother came over and gathered Ava and Henry. Lindsay, Ella and Daddy were on their own.
We called Carrie and she was on her way. In the meantime, Lindsay began to really feel the pains of labor. we decided to go for a walk. Up to this point we had established a comfortable position for Lindsay as she leaned on me with each contraction. The leanings were becoming more frequent and the contractions more intense.
We walked around the block. lindsay made her last phone call to her friend and put her phone away. Ella was serious now; serious about getting out into the world. She needed her mommy and daddy to focus on this.
Carrie arrived and the three of us (really the four of us) worked into the late morning, taking the waves of contractions as they came. Holding on to each other and encouraging Lindsay.
The time came to go to the hospital. The drive there was surreal. Lindsay leaned on a pillow the entire ride with her eyes closed and her mind in concentration. She was working with her contractions; not against them.
The orderly offered her a wheelchair but Lindsay knew she had to keep moving. It took some time to reach the birthing room. We settled in and made some more phone calls.
Lindsay's sister arrived and wanted to stay for the birth. We welcomed her to be a part of this miracle.
Lindsay's contractions were very close and intense. She worked hard and knew she had to forego any medication.
The doctor wanted to "break her water". Lindsay said "no" simply because she knew that would cause more pain and then she would cave in to the medication...she didn't want the spiral effect to happen.
Since Ella was VBAC2, they required an internal monitor on her (a small monitor screwed into the baby's head) to make that if Lindsay's uterus ruptured they would be able to get that baby out.
At one point they couldn't get a reading on Ella; this made everyone quite nervous. The doctor came in and insisted on breaking the water. When he went to do so he found that Lindsay was 10cm dilated. He ordered her to push.
Lindsay pushed for 1.5 hours. Ella Sabine was born at 5:15 pm. weighing 7 lbs. 15 oz and 23 inches long.
She was born without any medications for Lindsay, she was born...brought into this world through the strength and love of her parents. Our 3rd child. Her middle name is her late grandmother's (from the Casten side) name.
Ella is the sweetest girl you'll ever meet. She has a tiny voice that gently pierces your heart and lets the floodgates of love open wide. She'll rest her head on your shoulder to show her love for you and she'll place her face to yours to receive a kiss. She'll laugh when you turn her upside down and tickle her soft neck, and flap her arms in utter excitement over being alive.
Ella, from the moment of labor, has shown Lindsay and I the miracle of birth as God intended it to be~~all natural. She came to us on her terms, on her agenda, when she was ready.
God's intention. What might that be?
Right after Ella was born, the hospital's pediatrician did the routine check-up with Ella. She reported to us that she suspected Down's Syndrome.
Huh?
We had Ella tested by a geneticist--the longest two weeks of our lives. All the while we were taking care of her we would try to see what the pediatrician saw; sometimes we saw "it", sometimes we didn't.
Test results...negative. No Down's Syndrome~~at least not according to the cells that were tested. You see...they can't test all of them, there's too many. So they sample random cells and hope they get it right. They advised us to watch her as she grows and if there are any delays or anything that does not seem right, to go get it checked out.
Ok...we'll do.
We did.
There was something. Something that did not seem right.
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Ten Months Old
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Ten Months Old
Ella has yet to crawl. In fact, she has yet to use her legs in any functional way. She cannot bear any weight, cannot purposefully move them to help her move.
We have seen regression. She was, at one point, able to stand holding on to something for 30+ seconds...not any more.
Her hands shake. Tremble and tremor is more like it. Think of Parkinson's Disease and you'll get what I mean. We see the shaking increase in frequency and duration, as well as in severity.
Ella is in physical therapy. Her current diagnosis is hypotonia of the legs, so the PT is working on strengthening them. Not too much going on there.
We have her one-year appt. next week. We will get a CT Scan and/or MRI.
We have to know what God has intended for our little "Squishy" (a nickname we gave her right from the start before we knew anything--she was just such a 'squishy' little baby!)
As I write this she sleeps. Each time I put her down for a nap I cover her legs with a blanket her Grandma Gibson made. It lies on her legs, wrapped around them with the love it was made with, and when I return to get her from her mid-day slumber, the folds in the blanket are as they were when I left.
Lindsay and I talk. We research. We pray.
Ella loves to dance. She'll shake her upper body, shoulders moving forward and head bobbing to the rhythm she hears. She smiles, she laughs, she plays. She cries, she whines, she drops her head in frustration. She is all she is right now...a lovable, gorgeous, pretty girl.
God's intention.
We know that Ella will fulfill all that she and God have intended for her life.
We are here for her.
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Ella's Embrace
6.15.11
Ella and I took a walk today. I held her close to my body and as she embraced me she let the wind blow on her face, squeals of delight came from her each time mother nature whisked past her.
She laughed and made silly faces at me. She reached for objects far out of her reach. She looked around at her world, at our world.
She yawned three-fourths of the way through our walk.
I repositioned her into the cradle position and the brightness of the sun forced her eyes shut. They were tightly closed for a few feet then I saw them relax. Her body molded perfectly with mine as my gait lulled her to sleep. Wrapped in my hold, she slept with not a care in the world.
Her parents, on the other hand, have a lot on their minds.
Ella saw her pediatrician today; Dr. Murphy. We love Dr. Murphy. She is kind, honest, straight-forward, sensible and a damn good doctor. She loves our children...we know that simply by the way she interacts with them. Whenever we've had a concern with one of our kids, Dr. Murphy was right on it. She always errs on the side of caution; just the way we like it. She has done wonderfully by us.
Ella's visit with Dr. Murphy showed a different side of our beloved pediatrician. She talked with Lindsay as usual, listened with genuine ears as usual, and loved Ella upon seeing her as usual. The difference came when she examined our baby girl.
Doctor Murphy put her incredible bedside manner gently aside and took Ella as her focus. A focus that Lindsay hadn't seen until now. Dr. Murphy let the training and experience she has as a top-notch doctor take her through the examination. She gently lifted Ella, looked at her hands, tried to have her bear weight on her little legs. She thought to herself; she reasoned with all she knew about baby development. The examination took on a life of its own as Dr. Murphy and Ella did the delicate dance that a patient and doctor might do. She was searching. Searching for a clue. Searching to be able to tell Lindsay something that would ease her mind and subdue her urge to cry.
The examination ended as quickly as it started and Dr. Murphy once again adopted the bedside manner we are accostomed to. Her training had served her well and her expereince even better.
She knows something is not quite right with Ella Sabine. She knows that it could be one of a thousand problems. She knows it could be something as "simple" as a developmental delay that will require intense physical therapy or something as "complicated" as a tumor that would require brain surgery. The possibilities are open.
With grace and understanding, Dr. Murphy has placed us on the path that we need to travel. Ella will have an MRI next Thursday and then an appointment with a pediatric neurologist the very next day. The medical team we are now working with wants no delay.
Lindsay and I continue to talk. The conversations have taken on a different tone. A reality that was not quite evident is now present. There is something not quite right. We look to the future, both immediate and long-term, and know that whatever we are called to do we will do it together. We will do whatever it takes to allow Ella to be the very person she intends to be, that God intends her to be.
There's a different atmosphere in the Casten household. An atmosphere of unity coupled with the apprehension of the unknown. Lindsay feels it, I feel it, Ava knows of it (she has invented the "Handy Dandy Machine" in her drawings that is designed to help Ella crawl and walk), Henry reacts to it (he is more loving now than ever before), and Ella embraces it.
Ella embraces it.
She laughs and makes funny faces, she reaches for her world. She dances her dance and plays games with her tongue. She hugs the people around her and she delights in what the world has shown her thus far.
This will be a long week. We will try to keep busy. We will continue to talk, to feel, to hug and cry. We will laugh and play, we will sit and reflect. We will thank God for all of His gifts.
We will, as Ella has done, embrace life as we walk the path before us.
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What Would Ella Say?
6.24.11
She waited for over an hour.
She played with books in the waiting room and ate her snack.
She watched another child put a puzzle together.
She smiled at a boy watching a movie.
When in the examination room she watched herself in the mirror. She laughed at her reflection.
She played "pass the baby" with mommy & daddy.
She tossed her head back in hopes of being tickled on the neck (her hopes became reality).
She drank her water, ate her snack, and waited.
We waited.
The pediatric neurologist entered the room. It was almost as if I expected him to know everything we had gone through up to this point. I was ready for some kind of an answer.
He only knew us through paperwork and an MRI he just read moments before. The MRI of Ella's brain.
Ella greeted him with her look that says, "Whozzhatt?"
The doctor shook our hands and the process began. We answered questions. Questions we had thought were going to be asked and questions that were unique.
We spoke for our "Squishy".
We tossed out our thoughts and the doctor received them. We went back and forth exchanging ideas and information. Ella chimed in as a one-year-old might, with little noises and inflections.
We were told that the MRI was normal. Ella's brain was healthy. I stroked her head when we were told that good news.
We were told in so many words that her inability to walk at this point in her life was not due to a developmental delay. This was surmised by the simple fact that she had been developing "normally" for the first 5 months of her life. At that point, however, her physical development stagnated.
With that news, both Lindsay and I drew a blank look. If this was not a brain thing and it wasn't a developmental delay, then what in the world is going on?
Something I think Ella would have said herself.
The doctor explained many things to us. In the end it comes down to the process that he was trained in; the scientific process. In medicine, when diagnosing, one must eliminate all other possibilities to get at what is really happening. So the process has begun.
Ella's process starts with three tests. These are designed to pinpoint where, exactly, the problem lies.
Is it with the muscles?
Is it with the nerves?
Is it with the enzymes?
Three tests must be performed.
A simple blood test can help the doctor identify nerve function.
A more invasive test called "nerve velocity" can tell the doctor more about the muscle.
A longer test (in terms of getting results) called a metabolic work-up will tell us if there is an enzyme problem (enzymes assist chemical reactions that produce specific outcomes--if the enzyme is "bad" the outcome does not occur, ie: muscle movement).
The doctor examined Ella. He held her up high with one hand under her belly to test for muscle tone. Her arms spread and her legs hung. He had her on her back and rolled her legs around, he squeezed her legs. He checked her spine, her fontanel, her reflexes.
Her reflexes. The bottoms of her feet reacted well to the test. The doctor was, however, hard-pressed to produce a "knee-jerk" reflex. Three times on each leg he tried, twice with his finger and once with the "hammer". His brow furrowed a bit at this lack of reflex. He tucked this info in the back of his mind, a mental note if you will.
So we test and we wait.
We wait some more to find out what is going on with our "Squishy".
He lifted Ella up and held her in his arms. They looked at each other. He smiled and she babbled.
I wonder what Ella would have said?
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Ella's Road Narrows
7.6.11
Ella helped celebrate her sister's birthday on July 5th. She watched with wide eyes as Ava opened her gifts, she travelled merrily to the pool with us finding immense pleasure in the water as we took her further out than she's ever been. She napped without making a peep (as usual), played on the deck with Ava and Henry, ate a hearty dinner and smiled as we sang 'Happy Birthday' to Ava. She filled her mouth (and face) with cake. During quiet time, she sat with her brother and sister, watching TV and enjoying family quiet time. She played in the tub with her siblings and found her way to slumber soon after.
All in all a good day for our little "Squishy".
We received a call from Ella's pediatrician and then from her neurologist this day.
Her blood work has been completed and evaluated. There was thankfully only one poke Ella had to endure to gather enough blood for several tests.
The pediatricians office called first. They told Lindsay that about half of the tests came back normal and the other half were not normal. They told her further that they are going to fax the results to the neurologist since many of these tests are quite specific and they are not trained to interpret the results as the ordering neurologist is. They did, however, give us the readings and Lindsay jotted down the notes.
We talked briefly about the results. We decided to give it a rest and go on with our plans to take the kids to the pool to celebrate Ava's BD. We would resume "talks" when the kids napped.
After the pool, we paged the neurologist and he quickly returned our call. He reviewed the results with us over the phone. The blood work did show some abnormal levels of several markers...he said the levels were just slightly above the normal range and they would not be considered a reason for her hypotonia. In other words, a metabolic origin of the hypotonia has basically been ruled out. Her enzymes are not playing a significant role in her lack of muscle tone in her thighs/hips.
Our initial reaction upon hearing news that the markers were basically normal was one of..."oh good"... but then the reality of that news hits us. If it's not a chemical problem, then it must be a physical problem. Something having to do with the muscles themselves or possibly the nerves. Or both? It's like the good news is supposed to provide an end...but as we are finding out, it only narrows the road of possibilities. We're used to getting results from doctors and then having a plan of action to "correct" things...not the case here. We keep on keeping on. We tell each other that we will figure this out...we tell Ella the same.
Ruling out the enzyme factor does rule out several more scary disorders. We have eliminated central nervous system disorders and now metabolic disorders. We are left with muscle and/or nerve disorders.
Her EMG is scheduled for July 18.
Her neurologist has planted the seed of further tests if we continue to rule things out without finding the origins of the hypotonia; specifically genetic testing and a muscle biopsy.
We must wait for the EMG to show us what it reveals first...from there we will have a more clear view of the next steps.
They say hypotonia can be caused by any one of thousands of disorders. Many people with hypotonia never get diagnosed or properly diagnosed.
The road we travel with Ella is one that is traversed one moment at a time. It narrows as we go and we huddle closer together.
The moments of this day for Ella were spent really enjoying herself on her sister's birthday.
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The Tables Have Turned
7.7.11
I've worked as a teacher for 10 years now. I have worked directly with children and their families for 18 years.
Long time.
In those years I have spent countless hours in meetings about children. Whenever there is a concern about a child we (in the childcare and education industry) sit down and discuss the concerns.
I have sat with supervisors, other teachers, social workers, psychologists, physical and occupational therapists, parents, advocates, nurses, children, siblings of children, caregivers, extended family members, friends of families, and more in my 18 years working with kids.
I have given my opinion about behaviors or progress toward a goal. I have raised questions about what might be best implemented to serve a child in the best way possible. I've listened to parents summon help from me and the system in which they find themselves. I have read reports, filled out forms, made and taken phone calls, e-mails and letters. I've spoken with kids about their life, their dreams and their perspective about what is happening to them and around them. I've helped kids and parents obtain an IEP (Individualized Education Plan) when their child needed it to reach their potential. I've sat in meetings listening to professionals and parents talk about a child.
The meetings in which they talk about the child. When I sit in these meetings I often am called upon first to give my impressions, being the classroom teacher. From there, the rest of the team gives their impressions, including the parent(s). I get an opportunity to see the parents as they talk about their child who needs help.
I often wondered what must be going through their minds, sitting in this room with a host of professionals discussing their child. What must it be like for them at home? How much have they been through that brings them to this moment and how much more will come for them? How do they do it?
The tables have turned.
Today Lindsay and I sat and talked with a professional about Ella. We talked with Jen, a "Service Coordinator" from Child & Family Connections, an early intervention organization.
Jen was very nice. She was personable and we enjoyed her company. She will be our personal coordinator for early intervention services for Ella.
She took us through the first step in the process. I was now that parent. I was the parent with the child who needed help. What was I thinking? What was I feeling? What brought me to this moment?
I thought that this is scary, but I felt loved.
I felt loved by my wife--because as we were answering the questions about Ella and our family, as we were filling Jen in about what has happened up to this point in time, both Lindsay and I connected on a level that I don't think we've connected before...a different kind of connection than we've had since we met.
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Peeking Around Corners
7.16.11
The shot above is from our family room. It's a little space between the bookshelf and the couch, right under a window. The vent is on the floor right next to the couch. Summer offers cool air through the vent and winter furnishes warmth through the same grated opening. This spot is one of Ella's favorite spots. She can happily be there with a pillow or two, surrounded by her books, and safe from the quick moving feet of her brother, sister, and beloved dog.
The fast moving feet. We watch Ella as she watches others. She reaches to them as they run by her. She looks on at playground play as children whiz by her; as they climb, jump, and crawl. She is 13 months old now and her natural desire to move is strong, persistent, and cannot be ignored.
We bring her to the playground equipment. She takes to it. She touches it, "eats" it, and places her body on it. We guide her down the slide and she laughs with delight. We place her in Ava's lap as the two of them go down the slide...she feels the air rush through her thin hair. We place her gently in the wood chips and she digs her hands in, feeling the sensation every kid should feel---the playground "floor".
Her brother and sister come to her in the midst of their play, and slow down to capture a moment with her...she grins in satisfaction that they are thinking about her as they play.
We sit in a family circle on "her rug" on the deck and have the blocks out. We build towers and the kids take turns knocking them down. We bring the fun to her, for she has such a hard time bringing herself to the fun.
The picture above shows Ella peeking around the corner of our couch, retreating from her safe spot amongst her books. It's a fitting picture as we prepare to take Ella to The University of Chicago hospital on Monday (July18) to have her EMG (electromyograph) performed. A test that will determine the muscle and nerve function of her thighs. A test that very well could help provide some answers and prepare the way for a diagnosis; to let us know what we can do to help our one-year old.
A test that will help our family to turn the corner of the road we travel with our little "Squishy"...the corner that we are all peeking around together.
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She Plays On
7.19.11
Lindsay and I spent the day with Ella. We laughed with her, played with her, cried with her and rested with her.
Her EMG test was difficult to say the least. She didn't thrash, she didn't resist. She let us know in no uncertain terms that she was in pain...she let us soothe her, hold her and comfort her. We wanted to take it all away from her.
The pediatric neurologist was as gentle as anyone performing this kind of test on a one-year-old could be. He was compassionate, caring and efficient.
When the testing was completed he talked with us. He told us that the EMG was abnormal in that Ella's motor neurons were not functioning properly. A small percentage of her muscle cells were actually receiving the nerve signal. It is called 'denervation' (loss of nerve supply). He explained that this was chronic in Ella.
He told us that her condition would not improve...chances are they will get worse. Not good.
We're devastated for our little "Squishy".
The neurologist said there is a high probability that she has the progressive neuromuscular disease called Spinal Muscular Atrophy (SMA) Type 2. Thus far, Ella has shown all the symptoms of this progressive disease..the EMG further lends support...which is what we were hoping against all along.
The next test being pursued is a genetic test specifically looking for SMA. Her blood will be drawn next week, sent to the Mayo Clinic, and 3-6 weeks later we will know if Ella indeed has SMA.
We wait. Wait. And wait some more. Our minds race with scenarios, what-ifs, confusion, anger, despair, love, and hope. Our stomachs turn and our world seems out of sorts.
If she does have SMA, we will have to prepare ourselves and our children to face what we have to face...together for as long as she has.
If not, we keep looking.
We are numb right now.
We talk. We cry. We play with our kids. We reach out to our friends and family. We sit. We are quiet. We wonder. We sigh. We allow emotions to come and go. We look to find what it means to be the parents of our children...to be the children of our parents. We watch as Ella continues to play.
She babbles. She cries. She plays with us. She reaches out. She sits. She is quiet. She wonders. She sighs. She allows her emotions to come and go. She looks to us to be her parents...she delights in being our child.
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Charge It
7.26.11
She likes to touch.
We call it her "charging" time.
She methodically places her index and middle finger of her right hand in her mouth and with the index finger of her left hand, seeks (with purpose) a skin surface. As depicted in the picture above she rests her finger delicately on the desired skin and her body comes to rest, relieving all anxieties and frustrations. She "charges".
She'll "charge" on Mommy & Daddy, friends and family, even Sasa our dog. Often, if there isn't another living creature nearby, she will find a place on her own neck to place her finger, gaining an internal charge, as it were. It's sweet, endearing and part of who Ella is.
Ella visited the hospital this morning to get her blood drawn so it could be sent to The Mayo Clinic to have chromosome #5 tested for SMA. The news of positive or negative results will come forth in 3-6 weeks.
She was as brave during this blood draw as I had ever seen her before. Once she realized that she was going to get poked, her lip quivered and she fought back the tears, the cry. The nurse found a vein quickly and within one second had the needle in and drawing blood. Ella didn't have enough time to react right away but they came--the tears. She held fast and I held her tight. Not 15 seconds later, while the needle was still doing its work, she stopped her crying. She watched the medical tool do what it was designed to do; her brow furrowed a bit. She looked at me as she sat on my lap, turning her head to catch my eye. She didn't exactly smile but I knew she felt ok about this.
The nurse expertly withdrew the needle and seamlessly covered the puncture with gauze and a self-sticking bandage. Ella was naturally curious of these and pulled on them. We thanked the nurse and found our way to the hospital cafe to rid ourselves of the past moment and look forward to the coming day.
Our pediatrician has put in referrals to our medical group to assemble a team of doctors for Ella at the University of Chicago Medical Center. We were impressed by the pediatric neurologist that performed her EMG there last week and are seeking him to be our primary neurologist. From there, we have the flexibility to choose the remaining team members; including a pulmonologist, occupational therapist, orthopedics, and physical therapist~among others as deemed necessary.
We are also in the process of developing a 2.5 year plan with Family Connections, a service that coordinates in-home therapy and support in concert with Early Intervention for kids 0-3 years of age. We will be meeting in early August with those (PT, OT, Dev. T) who have evaluated (and will evaluate) Ella.
In the meantime we work with all three of our kids. We work on loving one another, forgiving one another, playing with one another, helping one another. We go about our daily lives and do our best with what we have.
As Ella has often showed us throughout her days, we must also stop and re-charge with one another...
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Spinal Muscular Atrophy (SMA) Type 2
8.12.11
8.12.11
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| Ella Sabine Casten (14 months old) |
Ella has Spinal Muscular Atrophy (SMA) Type 2.
The diagnosis was confirmed on August 12, 2011.
Her motor neurons are dying and will continue to die.
For Ella, her SMN1 gene (located on chromosome #5) is not producing a protein called Survival of Motor Neuron (SMN). This protein is responsible for keeping the motor neurons alive. She produces some (through copies of the SMN1 gene that mother nature has so brilliantly provided), but her copies are not sufficient to do the job as well as the original would have. Her physical growth and the demands placed upon her muscles will far outweigh what she can produce.
As increased nerve denervation (loss of nerve supply) occurs, she will grow weaker over time and her muscles will atrophy from non-use. This rare genetic disease is in the same family of diseases as ALS (Lou Gehrig's Disease); only it is not as aggressive.
Currently her legs and trunk are the most severely affected. Other muscles in her body will be affected over time. This is a progressive, degenerative disease. Currently there is no cure. Prognosis is unknown and varies widely for children diagnosed with SMA type 2.
What do we do now?
One thing we do know: Her respiratory system must remain healthy and strong; this is vital to her survival. Keeping her intercostal (rib) muscles strong to cough hard enough to expel any congestion is the key to preventing infection from setting in.
Our minds are filled with what we are to do. And those things will happen. The family education, the orthotics, the doctor appointments, the adaptive equipment, the modifications to home, car, life, the insurance, the medical bills, the support groups, and so much more. Those things will happen.
I guess the question that really needs to be asked and answered is not "what will we do?" but rather, "What will we BE?"
It is in the "being" that we will produce the highest quality of life for our family.
It is in the "being" that we will find out who we truly are.
It is in the "being" that we will find the strength to do the things we need to do.
Our choices seem endless. There are so many ways to "be" in relation to all of this. The spectrum of emotions can be overwhelming at times; the expression of these emotions equally so.
There is one choice, however, that really exists....
...it is the only choice we really have...
...it is to love her.
Ella is going to need much in her lifetime. She is going to need a lot of help to find her way to the path of greatest independence. She is going to need much in order to survive as long as she can.
What she'll need above all and what we can offer her in abundance is love.
We can do that...
