Hello and welcome to another Transformation Tuesday! I bet you are wondering why this is a special edition… I will get to that in just a minute. I have to do a brief introduction first.
Did you know that November is Epilepsy awareness month? I have an itty bitty family member with epilepsy. Actually a different form of the disorder specifically called SCN8A. But, I am not going to speak about it…well, not much! Just a little bit at the end. I am going to let my sister Juliann talk about it. Now that I have been blogging for over a year now and I feel like we are becoming friends. You are going to hear more stories from me. More journeys that not only family members have taken, but also my own personal journeys. We are survivors and sometimes, I think I need to be reminded of that. As I way to remember that, I will share those journeys and struggles that I have been down with you. So, a new section called Stories will now be on the header bar. Hopefully you will laugh or cry or be inspired – whatever the case may be.
This first story is actually written by my baby sister. (Even though we are adults, she will always be my baby sister as she is 7 years younger than me & the baby in our family!) Life is not always easy and sometimes we have to endure challenges and face obstacles and make difficult decisions. It is how we overcome those challenges and how we run through those obstacle courses and how we handle making those difficult decisions that give us character and make us stronger and wiser as we age because my baby sister – is wise beyond her years & my years combined. Plus, she handles all the challenges and obstacles and decisions with grace, patience and an eloquence that God did not grant me with. I am so very grateful and thankful to have my baby sister and her beautiful family be part of my life and I want to share them with you today. So, I present to you The Bradish Family. Joshua and Juliann accompanied by my two nieces Amelia and the ever so special Adeline. Here is her story:
(Photo Credit: http://www.facebook.com/shotwithlovebyheather Used with permission and with special Thanks!)
“Why I am risking bringing another special needs child into this world”
We all have choices and decisions when it comes to our family planning, pregnancies, child-rearing. Just because we all do things differently, doesn’t mean any one way is wrong. I know my decision not to consent to an amniocentesis is one that might be criticized, but it’s a decision we made without any religious nor political influence. I’m not representing any group or stance; I’m simply representing my decision as it affected my family.
When I went in for my first OB visit for my third pregnancy, the office quickly learned of my 2-year-old daughter Adeline’s genetic history. I was immediately referred to genetic counseling, and an amniocentesis was scheduled. I was in the throes of first trimester exhaustion while raising two little girls, so by this point my head was spinning. Suddenly my pregnancy became frightening and somewhat worrisome rather than blissful and dreamy the way it ought to be — the way my others were.
Adeline has a mutation in her SCN8A gene, causing epilepsy, hypotonia, ataxia, as well as learning and physical delays. She was diagnosed at 5 months old and against all odds, after two years of intensive therapy, she’s a walking, talking, sassy, almost typical toddler. Her life hasn’t been easy, and it’s taken a lot of work for her to get to the point she is now. She’s not without seizures, but she has a good quality of life. More important than any quantifier or score she receives on assessments is the fact that she’s happy.
Adeline’s struggles have molded me into the person I am today; in comparison to myself before her diagnosis, there are some things I care much more about while others I care about less (or not at all). Her strength has inspired me to push forward in my darkest days and has made me mother differently. She’s 19 months younger than her big sister and best friend, 4-year old Amelia. I truly can’t imagine either of them without the other. They have just always been.
The most common themes among posts on Adeline’s Facebook page are for epilepsy awareness, to motivate and inspire through her trials and triumphs and to express that Adeline (her challenges included) has been one of the greatest blessings of my life. To consent to an amniocentesis for my current pregnancy (which does carry a small risk of miscarriage) seemed contradictory to the messages I try to relay.
My husband and I have both undergone blood tests that are negative for the SCN8A mutation present in Adeline. There’s a chance that one of us has a germline mutation, meaning that a certain proportion of his sperm or my eggs could possess the mutation thereby creating the potential to pass it on to a certain proportion of our children. Prenatal testing by Chorionic Villus Sampling (CVS) or amniocentesis, which each carry their own risks to the fetus, are the only options available to test an existing pregnancy.
I can hear some people now:
“Why would you risk bringing another ill child into this world?”
“Why wouldn’t you have testing done to know so you could terminate your pregnancy?”
“Think about your other children and their needs!”
“Do you honestly think you have anymore time and energy to commit to a second special needs child?”
“Aren’t you being selfish?”
The simple answer:
While those are all valid questions and points, if I had any deep-seeded concern with any of the above, I wouldn’t have gotten pregnant in the first place.
The more complicated but eloquent answer:
My girl is perfectly imperfect. Just like the rest of us. To seek testing and then consider terminating this pregnancy if this child does have the same mutation would be, in my opinion, sending a message to the world that Adeline isn’t perfect. That having a child like her is something to fear. That I wouldn’t have her all over again if given the choice. I can’t support nor condone those ideas.
The fight to show the public that my daughter is amazing, a gift, that she is perfection in my eyes has been a long journey. I’ve expressed that each of us is different in our own ways and because science labels something “abnormal” or “incorrect” or “mutant” doesn’t mean that parents have to.
While I would always hope (doesn’t everyone?) for a “healthy” or “typical” child, if I were to have another child with the same genetic mutation, I would now be equipped to seek therapy, medications, neurologists from birth. I will be able to recognize triggers for seizures and milestones that aren’t being met. I’ve already made the personal and scientific connections needed to give a child with SCN8A the best fighting chance. Who would be more equipped to raise this child than I am?
I would like to be romantic in thinking that even if my child were more medically fragile I would still make the same decision, but truth be told, I don’t know. How can I really know what I’d do if in a situation different than my own? I’m only equipped to handle the situation I find myself in, and I know this is what makes sense to me and what seems best for my family.
There are no guarantees that the same mutation means the same prognosis, but my focus would be the same as the focus I’ve always had for Amelia and Adeline alike: to raise them to have a happy childhood. Isn’t that one thing that unites us all? Isn’t that what we all really want? Every pregnancy comes with risks and every infant delivered has a chance for chromosomal or genetic abnormalities. I don’t consider this pregnancy any different than any other, and enjoying my pregnancy and seeing it through to the birth of the child I’m supposed to have is a risk “gift” I’m willing to take.
I’ve created lives for which I am neither ashamed nor afraid, but forever honored and humbled by the uniqueness and beauty they each gift to this world.
Juliann Bradish, PharmD, is a pharmacist, wife, and mom of two little girls, with baby number three on the way. She spends most of her time feeding little mouths, playing referee to battles of willful children, doing crafts, going on adventures and enjoying the blissful chaos of motherhood. During nap time, she carries out her roles as the site manager for her daughter’s awareness site, “SCN8A-Help Adeline Find Answers,” the creator and administrator for a private SCN8A support group, a moderator for the SCN8A interactive website (scn8a.net), and The SCN8A Advisor to The Cute Syndrome Foundation.
What my sister didn’t say… is how scary life was before the diagnosis. How we spent hours and days and weeks and months crying and praying and not having answers or a diagnosis. What we had was a beautiful infant who one day made a gasping noise that was heard by the babysitter who then checked on her and noticed that she wasn’t breathing right and was blue and woke my sister who was thankfully home from work sick that day they ultimately called 911 resulting in a trip to the emergency room. An infant who subsequently would continue to gasp for air, then stop breathing and turn blue – because at the time nobody knew she was having seizures- which led to an apnea monitor (an alarming device worn on her body that is used to detect when she wasn’t breathing.)
I saw this for myself the day before she was supposed to be Baptized. She had just been released from the hospital on a Saturday morning and was not home for very long – hours? Maybe? My sister weary, so very weary, so we came into town early to help her with the party. Decor, food, cleaning, helping out with the toddler. Whatever she needed. We were there for her. Baby Adeline was napping and suddenly a loud siren was heard. Us, visiting and helping prepare for the next days’ festivities not knowing what that was, we were in a state of confusion…which for me, didn’t last long. I, a former Emergency Room nurse, watched as Josh jumped up from the couch and hopped a baby gate like a gazelle and ran upstairs to his daughter. Quickly, I followed with Juliann knowing that this was Adeline’s apnea alarm. Listless, with what we call acrocyanosis, pale and barely breathing I witnessed a father holding his daughter in his arms. Panicked and fearful – he a physician, yet completely helpless to help his own baby. Somebody, I am not sure who – called 911. My sister? My Mom? Both maybe… Oxygen that was at the house was applied to assist my niece in her breathing. Juliann remained calm. I appreciated that. Downstairs was chaos as family was helping with my other niece Amelia to shield her from seeing what was happening to her baby sister. Also, helping tame 2 barking dogs and many other family members including my own children. I helped with my sister and Adeline. Fortunately, the paramedics are stationed across the street from the entrance to the subdivision and as unfortunate as this is, they have been dispatched to this address for this baby on several occasions now, which fortunately, they arrived quickly.
I am the one to accompany my exhausted sister to the ER via ambulance. We are there for several hours. Specialists are called via phone because the baby was just discharged a few hours ago from this very hospital. No new answers. Just some oxygen, some more monitors and medications. However, this time, as we are going to be discharged, a seizure occurs. Now, we have a witnessed seizure and the baby gets admitted to the hospital and some testing will be done that will eventually lead to the diagnosis that they received.
Here are the pictures from the baptism held in the hospital:
Why am I sharing this part of the story? Because something else needs to be shared this month. Something called SUDEP which is Sudden Unexpected Death in EPilepsy. It is the sudden gasping for air that baby Adeline was having after her seizures that was followed by short shallow breathing that could have quite possibly led to a different outcome for this baby had her babysitter not heard her gasping on the baby monitor those first few times.
We don’t want to think of the “what ifs” we are just thankful everyday for the 911 calls, those first responders, the nurses and Dr’s that took care of her. We are also thankful for her diagnosis. I hope that you spread the word too about Epilepsy and SUDEP and I hope that you can be thankful for the many blessings that you have in your lives – be them big or small.
P.S. So, obviously today’s transformation has nothing to do with furniture… my beautiful sister’s body is transforming each and every day with a growing little baby! Soon, there family of four will be transformed as well to a family of five!
Having 2 daughters of my own, this little one will be my 4th niece & I am EXTREMELY thankful for that because I don’t know what I would do with a boy!
Until Next Time!