Thursday, June 15, 2017

It really is all in our genes.

My firstborn, cherished daughter. 
I dreamt about her and prayed over her and she has always been my greatest dream come true. 
She created in me a new heart, a new mind.  She helped foster in me the fierce, courageous, bold, energetic, lighthearted, intense, funny, protective, strong, capable spirit that has made me into the woman I was created to be.
A mother. 
She gave me the gift of being a mother. 
Nora and I only had 13 months together before her brother was born.  Half of those months were spent alone; just she and I, because her dad was deployed at the time.  Since that time in our lives, though, we haven't had a sacred space of time to carve out for just us.  Like every family, we have just clung together and moved forward.  She had a brother, and then a sister, and then Aunt Rachel and Harper moved in, and people were constantly in our big white house-therapists, nurses, friends. 
Admittedly, I shared life with anyone and everyone...and although that was perfect for a time and I feel incredibly grateful for that season, it is nice to see how life has shifted and we've now moved into a life that is much more quiet, much more private, much more structured and controlled.
Just as Nora likes it. 
My Nora. 
What can I say?
She is gifted and always has been.  She began walking at just 8 months of age, has always been quick as a whip, is beautiful inside and out, has found a sport she loves and is good at, fights with her brother like it's her actual job, loves ALL people and wants to help, accepts change and adapts to it with a heartbreaking and unwavering spirit, has endured the loss of her sister and managed to still receive the gold presidential award (4.0 gpa for the entire year), loves animals, wants to be 15, adores ice cream, snapchat and vacations in Michigan.
Nora is inquisitive and wise beyond her years.  She likes to write out her feelings rather than talk about them but she wants to have all the information that she can have about a situation in order to fully process it. 
Years ago I made a silent promise to myself, for both of the kids, but especially Nora, that I would always be fully honest with them in every circumstance.  I will present them with the facts of a situation in the way that they can handle them at their appropriate ages.  In doing so, I will hopefully create a trust between us that will last forever.  Currently, we talk about more hard things than I believe most parents do with children their age, but I have to remind myself that they have endured more hard things than most other children.  Thankfully the act of comparison has lost it's grip on me because my mothering will never, ever look the same as someone else's. 

Nora is relatively healthy. 
She did realize not long ago that she can shake her eyes like I do.  At first I thought that it was really funny and quite charming that she was so determined to teach herself something that I couldn't control. 

It turns out, I'm not sure that she can either. 
Over the last year Nora started having headaches.  Many a week.  But, so did I as a kid so I chalked it up to that, gave her Tylenol and made her rest. 

Nora also has terrible joint pain.  She complains of her legs or her shoulders hurting probably once a week (if not more).  Growing pains, I thought. 
Tylenol and rest.   

Actually, Nora does a lot of 'resting.'  She's strangely tired for a child her age.  Again, we chalked it up to pre-puberty, her personality, grief, etc.  And it could absolutely still be a combination of all of those things for sure. 

When I tuck Nora into bed at night, her body jerks.  Not just a couple of times like a sleep-start jerk but for as long as I lay with her (sometimes up to an hour) and even throughout her sleep.  Again, I overlooked this because 'some people just jerk in their sleep' was my thinking. 
But her brother doesn't and it turns out...most people actually don't. 


Last week we received the results of the kids' test results for the ATP1a2 disease gene that I carry.
Braden does not have the mutation.
Nora does. 
I know the answers were coming but even was shocking. 
I needed time to process my own thoughts before I decided to tell her. Mostly I don't want her to be afraid, even though it can be kind of scary.  Chris reminded me that although I have had it all along, I carried out a healthy childhood.  I played sports, I went to dances, had boyfriends, had healthy pregnancies, labors and deliveries....
And he's completely right. 

But then... I had two really healthy babies and one really unhealthy one. 
Which is where the sadness FOR Nora creeps in.  I suppose it doesn't change too much for her when it comes to thinking about her future or planning a family.  I mean she already had a very sick sister so her choices may have looked different anyway.  But, when we get Mabel's results, if it shows that she too carried this gene; a gene that was likely paired with specific markers in the blood that contained NCL, I'm not sure if the risk will be worth the benefit of having children for Nora. 
And in my heart I grieve that for her a little.

I am going to insert here, though, that even if I had been this information years ago, I would have still made the choice to have children.  The truth is, Mabel's life was perfect. It was just how it was intended to be.  I don't think that it makes me or any other parent selfish for possibly bringing a sick child into the world.  I suppose it is all about our perspective about what 'sick' really means.  Would I have chosen to have Mabel knowing she was going to suffer the way that she did?  I'm not sure.  But God chose to gift her to me and for that, I am incredibly grateful.  Some of it is out of our control anyway and that, in and of itself, is so freeing. 

I don't ever want Nora to make choices based on the 'what ifs' of life because in total truth, we all have a million what ifs hanging around that we choose to ignore every day.  If we scooped them out of the dust that we've buried them under we would be consumed by utter fear and that is such an unfair and horrible way to live. 

So this week Nora played ball in the 95 degree heat two nights in a row.  Both nights she complained of an awful headache, felt dizzy, looked flush and without even knowing it, I noticed her eyes were shaking.
The second night she sat out at the beginning of the game because she was so nauseous and told me she felt like she may pass out.  She also told me that she felt so weak, her right arm could hardly lift her Gatorade.  When she did feel better, after the 2nd inning, I encouraged her to go in and to play with her team.  She did and I felt proud.  I have information about her body that is vital but I have information about childhood that is too, and I want hers to be as normal as possible. 

When we got home that night, though, I knew I had to tell her the test results and this is why:
First of all, she sat in the office with Dr. Schneider while he talked to me about what ATP1a2 looks like and means.  She understands and is not naïve like her brother still really is.  She knew the results would be coming anytime. 

Although she is going to have normal headaches, growing pains, belly aches, etc, I now feel like we have been given a serious gift for her life.  A gift that most ordinary people do not ever receive.  In a sense we were given this gift of knowledge because her sister was so very sick.  We literally have been handed a roadmap to her health and I won't take that for granted and carry on in ignorance.

The mutation in this gene is responsible for many things that may ail her in life.  And though there isn't a whole lot we can do about that just yet (super rare, no funding, no research, no treatments, no cure...sound familiar?) one day there may be.  I think it's really important that she has at least an idea of what symptoms could mean something and what symptoms could be nothing.  Of what she should look for, expect, be aware of.

So I explained to her exactly what is going on with me and how I've been 'affected.'
And then I explained that I was really very healthy except for my eyes shaking and some headaches until this last year.  And then I explained that her headaches the last few days could easily just be headaches from the heat but that she has to be really good about telling me when she doesn't feel quite right so that I can continue to take really good care of her and watch her closely.  She told me 'that I always took the best care of Mabel so this must just be what I'm meant to do; watch my children closely and take good care of them.'

I want her to be equipped with information so that as she grows she can help inform others of what may be happening with her.  And so that she might be less afraid.  For me, knowledge has always made me feel a little more powerful.  It helps me feel educated and for my personality type this is really critical.
  Nora is very similar to me in that way and she seemed grateful to know.  She asked if I would write everything out for her so she could keep it with her.  She also asked if I would be finding the very best doctors in the country, "since it's so rare and we need help finding answers!"
I just smiled.
She is mine, after all.
So just to recap, the ATP1a2 gene is responsible for the exchange of sodium and potassium through our cells  This affects everything in our bodies.  When there is a disruption or a deregulation of the normal process, this is known to cause symptoms that can mimic MS but has also been linked to seizures, strokes, comas, partial paralysis, autonomic changes, dyspnea (breathing abnormalities), sever mental impairment with epilepsy, diverse neurological impairments of movement, hearing and vision changes. 

This gene is inherited and is dominant.  The kids each had a 50/50% chance of having it.  Nora will have a 50/50% chance of passing it to her own children. 

This disease is extremely rare.  The record of known variants makes up about .006% of the population but our variant has never been seen before, therefore research on it has never been conducted or documented.  Currently I am in contact with researchers all over the world, most recently waiting on a reply email from a lab in the Netherlands.  Our next step moving forward will be to have my mom's blood drawn to confirm whether the mutation was caused from the maternal side of my family or not.  Also, we will soon receive results from Mabel's DNA.  Essentially our family will help write the research for this exact mutation and hopefully help others in the future by showing the varying symptoms and progressions associated with this gene.  Likely we will also prove that several members of a family can have the same mutation but can all present very differently. 

So far research that has been done on other mutations that lie on the same gene indicates that this disease is episodic and not progressive.  This simply means that an individual may have an episode (caused by metabolic stress-a fever, a migraine, extreme heat, sickness, environment, infection, etc) that causes a decline in the body.  Sometimes this is irreversible and has shown to leave people in comas or with permanent neurological deficits.  Sometimes this is simply something that the body can't fully recover from so symptoms are more vague; often leaving patients undiagnosed and frustrated for years. 

So, for now, we don't know much. 
We know there are certain medications that Nora and I should avoid taking.  We know that we should try hard to avoid anything that will cause metabolic stress to our bodies.  We know that if she gets sick or gets a fever that we need to handle it quickly.  We know of some vitamins that others have taken that seem to help them.  We know that a healthy diet is important along with staying hydrated.  Skipping meals is just not an option.  We know that we need plenty of rest; sometimes more than the average person may require. 

And though that seems pretty basic, it's really quite helpful for me as a parent.  I know my own limitations.  I know, looking back, when I pushed them as a kid or even a teenager...and even still as an adult.  I feel like I can gauge Nora's limits a little better because of that and so I'm grateful.

...And I'm sad and still overwhelmed. 
We never really know what the future holds for our children but I've literally given everything up to God at every turn anyway.  So I am not afraid.
Rather, I am thankful for the wealth of knowledge that Mabel's life led me to.  I feel like because of my baby who is no longer here, I am far better equipped to take care of my children who still are. 
And that is a huge and incredible gift that I will NEVER take for granted and that I never want them to either. 

Thank you to all of you who have continually asked about my health, these results, how you can help, and for praying.  There is no real solution and there is no real guarantee that there will be great progress with my health.  It's extremely frustrating and isolating especially because my desire is to be active and healthy with my family.  What I'm learning to do is really embrace the good days and really give into the bad days, helping myself how I can.

For now, the plan is to do the exact same thing with Nora and keep our fingers crossed that she remains healthy. 
Please, if you have questions, don't be afraid to ask.  I'm grateful for such caring and compassion. 
So school ended and we once again started summer with some pretty heavy news that we needed to process.  But we are really enjoying our days together; sleeping in, swimming and softball.  In just a few short weeks we will head to Michigan for our annual family vacation and very soon we will be welcoming baby August (my first nephew!) into our family.  With so many beautiful things surrounding my days it is hard for me to stay focused on all of the hard and heavy stuff that I could  easily let consume me.  Instead, I try hard to remember that 'it just is what it is,' and we must always...just...keep...going...

1 comment:

Unknown said...

Thank you for being so open. Prayers for you, Nora and your family.