A Reflection From A Mother
I have had an entire year to think about this day, the anniversary of Getty’s diagnosis.
I remember what we were doing that day before her 4 month check-up at noon. I remember what I was wearing, I remember packing the small diaper bag, I remember the weather outside, I remember everything.
I remember the pediatrician appointment being rather routine. I remember the nice discussion we were having with our doctor about Getty. I can’t stress how routine it was. And in a moment right before we left, the doctor made one more quick check on how Getty was bearing weight on her legs and the entire game changed. She did another test with her reflexes and then another to look into her mouth to see the movement of her tongue, all the while Mark and I just sat back as parents not thinking anything was wrong. Then for some reason I started to look at our doctors facial expression. She started to have this really intense look on her face and then it seemed to turn to concern. In a way I was trying to ignore her because in my mind nothing could be wrong with Getty. We hadn’t noticed anything wrong so how could she find something we were not already privy to.
She finished her exam and sat back down in her chair. She paused and then told us that she was concerned. “I don’t want to tell you what I think it is, because you both will go home and google it. I hope I am totally wrong and you get mad at me later for adding such stress to the situation, but I am going to make an appointment with a neurologist to have Getty seen today.”
As I write this, those emotions just come back in a wave of terrifying proportions. We left the room, Getty snug in her car seat and we made the trip home only to wait for the next appointment. I laid Getty down in our bed and we just snuggled together. I could not restrain myself, I cried and cried and cried. I didn’t know what I was crying about really, just the notion that something wasn’t right was terrifying me. Getty looked like a normal 4 month old child. What on earth could it be? I stopped thinking and concentrated on her sweet little face and I just started talking to her. I started to bargain with her, like she in some way had the power to change the outcome of this situation. I told her that she couldn’t leave me. I begged her not to leave me. Her sweet blue eyes just looked back at me with such comfort. I held her for hours until it was time to go to the next appointment. 4 o’ clock came and we were sitting in another doctor room. The neurologist came in and did similar tests as our pediatrician had done. He sat back in his chair as our pediatrician had done and then he told us what he thought. Before he spoke though I can only imagine what was going on in his head. How do you phrase a sentence like this so a family understands but in the same breath is manageable to digest? He did pause for some time and I remember thinking to myself that he doesn’t think we could handle that maybe Getty won’t be able to walk? “Does he think we are shallow enough to not handle news like that, bring it doc!” I was already getting defensive and I had no idea what he was going to say.
“Getty has Spinal Muscular Atrophy. It is a genetic progressive disease that targets the muscles. I believe she has type I which means it is the most aggressive.” The room was silent. No crying, no screaming, no nothing, we were in complete shock. The only thing that I was able to muster up was, “how long do we have?” His quiet voice responded with, “1-2 years on average.” More staring and more silence continued, all the while Getty was laying on the bed gurgling sweet coos to us.
He offered the same consolation, “I hope I am wrong, and I hope you call me later and yell at me for being so wrong.”
I was never able to make that call because he was right, Getty had SMA and Mark and I had given it to her because we were carriers. We unknowingly gave Getty a terminal disease. We gave Getty a disease that will continue to weaken her body. We gave her a disease that will compromise her swallowing. We gave Getty a disease that will compromise her breathing. We gave Getty a disease that currently has no viable treatment or cure. We did this!
So now what on earth does a family do? How on earth does one digest this kind of news? How on earth do you move on with life?
Well I guess the answer is, you just do and that is what we did. You get through one day, the next might not be so great, but the next day might.
Our lives will never be the same since July 30th, 2010.
I wrote soon after her diagnosis a phrase that I like to reflect on from time to time. “What can I say, life as we know it has changed forever. For better or for worse, we will stand together. I am honored to be mommy to the best little girl in the world. Miss Getty we love you!”
This helps me get through some very difficult days. But that is what we are doing, standing together through good and bad. No day is similar to another, there is no security that tomorrow will be here, so we just live everyday like it is seriously our last. It is although, no longer doom and gloom. In fact I would argue that I have never lived life with such fulfillment as I do now as a mother and as a human being. I would have obviously wanted a different outcome, but now I wonder if that would have been possible without one? I am still searching internally with that answer, perhaps I will never know.
What I know for sure is that the love I have for Getty is a love I never thought I was capable of. She makes my soul whole. She has the ability to comfort with the most gentle coos and touches. She is so thoughtful and such a strong-willed little girl. I am so in awe of her power and zest for life. How can such a little being be so wise and teach her parents such life lessons at such a young age? I thank her every day for choosing me as her mommy. I am so lucky.
I hope for those reading this post take in to account a couple of things. SMA does not care who you are. It doesn’t care if you decorated your nursery with cute bedding and beautiful furniture. It doesn’t care if you had dreams of your child one day following in your footsteps and kicking around the soccer ball. It doesn’t care if you were subconsciously dreaming about future milestones; high school, college, wedding. All it does is take. 1 in 40 are carriers. That is over 10 million people alone in the United Sates. SMA can certainly be anyone’s reality. A simple carrier blood test can give you the knowledge you need to make the best decision possible for your family. It is seriously as simple as a blood test. Most doctors don’t even know what SMA is so you can’t assume they will offer this test to you, you need to ask, even if there is no family history. There usually never is.
Having said that I believe it is a choice to allow SMA to defeat you. I am in constant battle with our SMA monster that lives in our home. He is here and lives among us, but he does NOT define Getty in any way shape or form. Getty is, Getty. She is a robust little lady who loves life. Perhaps it is not the path I would have wanted for Getty, but it is what is, and we fight everyday for her. We believe that there is hope for her life and for other children with SMA. You have to hope. We believe we will see a treatment and/or cure in her lifetime. We believe that SMA will become more mainstream and lose its “orphan disease” title. There is nothing “orphan” about the #1 genetic killer of young children. Whomever designated SMA with that title certainly got their facts wrong and has done a huge disservice to this disease. Orphan, to me, implies insignificant and there is nothing insignificant about SMA.
On the eve of National SMA Awareness Month, I want to thank everyone that has helped spread the word about SMA. Whether you have received a Tell 5! package or you have learned from SMA by reading our blog or other great SMA non-profits and families around the US, I think it would be safe to say that we all thank you.
No family should EVER be given the diagnosis of SMA. No family should be given the dire statistics of 1-2 years of life expectancy. No child should have to have their respiratory compromised due to a degeneration of muscles. We need to keep fighting for awareness and we need to keep fighting for a cure. Getty and her friends deserve nothing less. That is why we fight so hard. I want to see Getty attend high school, I want her to graduate from college, I want her to get married, I want her to have a full life and an extended one full of experiences. Getty deserves that.
Getty said “dada” the other day and Mark and I were over the moon. Will more words follow? We have no idea, but we are so thankful for “dada.”
Just perfect, what awesome powerful words Kate. As I sit in my own little puddle here I am in awe of your strength. (yes, even though you may not feel it) Your voice to the world on your daughter’s behalf is so inspiring to me.
I have one of those 5 packages, I shout about SMA everywhere I go….. no family should have to bear this weight. I wish everyone could understand that SMA could knock on thier door next.
Thank you for this post. We have just recently received a devastating diagnosis (of a similarly “orphaned” disease) for our young daughter as well. Your words give me hope in a time where it is hard to find any.
This was truly a love story! Miss Getty lives in all of us. She has sucked us into her world, and we all feel very honored. You and Mark have learned so much more than most of us parents do, in a lifetime. We continue to keep you all in our prayers, and pray that sometime soon, they will find a cure for SMA.
Ok so I can’t even contain myself right noe. I cried through this whole blog. I want to thank you Kate for these words, I am having a really rough day today for some reason…I have been very emotional. all I want in this world is for Ford to know how much his father and I love him. Today was definately the day that I needed to read this and I believe there is a reason for that. I pray daily that a cure will be found in our children’s lifetime. I also want to see Ford grow up. He pray for healing daily too…Thank you for your powerful words!!
Kate– your amazing words are EXACTLY what I long for people to hear… and not just listen, but to HEAR. Whether it’s Getty fighting SMA or my girls fighting CF, the realities are so similar– we NEED people to become aware and FIGHT for a cure. We are our children’s advocates, our children’s voice, and our children’s hope. You are such an amazing, inspiring advocate, voice, and hope for not just Getty, but for all of us. Lots of love to you, my friend. Keep up the hard work <3
Well done, Kate.
You have such a great way of expressing your feelings! D-day is one of hardest to look back on. Obviously because it’s the day that changed everything! I’m so excited that August is almost here and we all planning SMA awareness events! Together we CAN make a difference. August 6th my family will also be remembering Our Annie Girl. It’s been one whole year since she earned her wings and flew SMA free! My heart breaks every single day, but like you, we fight! We fight everyday for SMA to be eliminated so NO other family has to face this heartbreak! HUGS to you and your family, especially Miss Getty!
Kate, this is a beautiful, beautiful post. Getty is so loved – I can feel with through your words. D-Day changes everything, but you are so right to say that it can’t defeat your family. Hope and love are your best allies, and you have those in spades. I am proud to be in the fight against SMA with you!
Oh Kate, I am so sorry that this day in July has to be forever tarnished. It is a day SMA parents will NEVER forget, but you and Mark are doing amazing things for Miss Getty and the SMA community. Sending comforting thoughts to you and your family.
Thank you for taking the time to write this, wow. I really do not understand why there is not more time taken for genetic counseling and testing. I am a carrier for cystic fibrosis and we had to fight tooth and nail to get my husband tested. How many different mutations are there for SMA? With CF, there are thousands and that was part of the problem, because we wanted him tested with the Ambry test that looks for most of them rather than the common test that just checks for 30 or 40.
Wiley, thank you for your question. The lack of prenatal genetic counseling and awareness is mind-boggling. We will do what we can to change that.
As far as SMA “mutations” there is only ONE. That mutation is either a dysfunctional modification or a full deletion of a single gene called SMN1.
The average person has multiple copies of SMN1. If a person has only ONE working copy of SMN1, then that person is a carrier of SMA. However, being a carrier is typically without symptoms so a carrier does not know his or her carrier status without a genetic test. If a person has ZERO functional copies of SMN1, then that person has SMA.
The lack of the SMN1 gene causes a lack of a specific protein, which causes the motor neurons that carry signals from the brain to the muscles to stop working, This causes muscle weakness.
There is only ONE form of SMA because all SMA cases stem from the same root cause: the lack of any functioning SMN1 genes. However, there are various “types” of SMA based upon the level of strength of the person with SMA. There is a Type 0, 1, 2, 3, and 4, where Type 0 is the most severe and Type 4 is least severe. Each Type, however, as mentioned, has the same genetic root cause and the “types” are just a general measure of strength.
Simply Beautiful my dear friend……….you write what my heart feels………
Any idea of the ballpark cost of this carrier testing?
How does the strength thing with 0-4 work? Is it a fluid scale or are their clear delineations?
If two people are known carriers, do they have techniques to detect which embryos have been given which genes with ivf?
Since it’s one gene, carrier testing will just tell you yes or no, not which severity?
COST: You should check with your health insurance carrier to see if the test is covered. Otherwise, the test runs about $300+, but my understanding is there is an oral swab test in the pipeline that could really bring the cost down. There is an SMA foundation dedicated solely to carrier testing and they have recommended labs at this link: http://www.clairealtmanheinefoundation.org/find_lab.asp
STRENGTH: The strength is determined based upon maximum function attained, as follows:
Type 1: Cannot sit without support
Type 2: Cannot stand
Type 3: Can walk, but that ability is lost over time
Type 4: Can walk without loss of that ability
Type 0: This is an “unofficial” classification or sub-class of Type 1 as the most severe, characterized by prenatal onset with a life expectancy of <6 mos
IVF: Yes, IVF is a technique employed to avoid SMA
GENETIC SEVERITY TESTING: Carrier testing on a parent will give no indication of severity for an SMA child. Genetically testing the child MAY give LIMITED but UNRELIABLE indication of potential severity for that child.
As mentioned, SMA is caused by ZERO working copies of the SMN1 gene. The SMN1 gene is responsible for causing the body to produce a specific protein called Survival Motor Neuron (SMN) Protein. However, there is a secondary gene, called the SMN2 gene, that is also responsible for making a lesser amount of effective SMN Protein.
Generally speaking, the more effective SMN Protein a person has, the more strength a person has, and the less severe the SMA. There is a rough correlation between the number of copies of the SMN2 gene and the severity of SMA. The typical SMA Type 1 person has 2 copies of the SMN2 gene, but not always. The typical Type 2 person has 3 copies of the SMN2 gene, but not always.
Genetic "SMN2 copy number" bears a ROUGH CORRELATION with the various "Types" of SMA, but the SMN2 copy number is an unreliable method of predicting or determining strength and SMA phenotype. The current consensus for determining SMA phenotype is based upon highest function attained. Notably, many neurologists misdiagnose SMA phenotype by looking solely to genetic testing and SMN2 copy number.
Getty has never able to sit up unsupported. Thus, she is Type 1.
Thank you so much for the answers, information and time. I’ve learned more tonight than I ever knew. And I set a tickler to remind me to follow the link Monday and read more. Punnett squares are dancing in my hard now.
I cant help but cry as i read this. its like we are the same person who has lived the same life and the same experiences and felt the same way. your daughter is nothing short of a hero. Getty has saved and changed lives and like i TOLD MARK, SHE IS ABLE TO DO THIS BC SHE HAS SUCH AN AMAZING SUPPORTIVE AND LOVING SUPPORT SYSTEM. Your three are a force and will change the world as we know it. hugs to you on a d-day anniversary. My family loves your family as if we have know you from the first breath we ever took.
Beautiful post! ((((HUGS))))
Touched my heart. As a grandmother of a type 1 child I feel the emotion deep into my very soul.
Thank-you for sharing. Bless you and yours.