FAQ: Batten Disease

First of all, thank you SO much for all the emails, messages and comments regarding your questions for this post! Hope you'll walk away with a better understanding of Mabel!

Q:  Why did the Dr's think to test for Batten Disease.  I've never even heard of it before!

A:  Although Mabel's symptoms presented early, the key features of NCL/Batten disease are: Seizures, worsening blindness, and mental deterioration.  Also, atrophy (shrinking or wasting away) of the brain.  Our geneticist tested for Battens along with a dozen other rare diseases.  This just happened to be positive and clinically she had every.single.symptom.

Q: Is Mabel more fragile then other children her age? I always worry when I pick up newborns let alone a child who is in constant pain and having seizures.

A:  This is a good question!

I know it probably seems like Mabel is more fragile than other children and in a sense, I suppose she is.  However, because she has such low muscle tone, there is literally no way you could hurt her while holding her.  She may jerk while you do but she is pretty good about showing you how she wants to be held or if she is getting tired and wants to be put down.  She doesn't feel 'pain' per se, just irritability from being held or touched for too long or by too many people. 

Q:  I have seen you mention that Mabel gets 'overstimulated.'  Can you explain this?

A:  Imagine if you couldn't see well, couldn't hear well, couldn't sit up on your own or help yourself, and couldn't tell anyone that those things were bothering you.  Now imagine being taken into a place (busy restaurant, church, etc) where there are a million lights, a trillion noises and no way to know what was happening. 

That's how Mabel feels times 1000000.

If the TV is on in our house, the kids are yelling, the dog is barking and she hasn't been held for awhile she loses it.  She literally shuts down. She becomes lethargic, shuts down her vision and absolutely won't do anything.  I can almost always tell when this is happening and try to avoid the shut down altogether when I can.

Q:  Why does Mabel's tongue hang out?

A:  Our geneticist still believes it's a 'storage' issue.  That would mean that something were being stored in her tongue (proteins, fats, etc) that would cause it to be large or swell.  Another opinion has been that maybe it's her lack of muscle tone.  She is so weak that it's just easier for it to hang out. Granted, we don't really have a solid answer as to why.  I remember growing up and seeing disabled people whose tongues hung out just the same.  I literally remember thinking that they were just 'retarded' and not knowing that there was probably a deeper reason or cause for why those physical things happen.  That is why I'm hoping to educate people so that Mabel isn't just labeled 'retarded.'

  

Keep in mind, mental retardation is almost always a symptom of something greater.  

By definition, retardation means the act of delaying.  It is not offensive to me personally because I think we are all just ignorant in our use and knowledge of the word in situations like ours.  One of the first thing that Dr. S pointed out was that Mabel had brain atrophy, a large tongue and severe 'mental retardation.'  

Q:  I've been curious about how much vision and hearing she actually has. And maybe you guys arent even completely sure about that? It seems like in pictures, she's often smiling or responding to a face or voice (external stimulation)

A:  Mabel still has some vision.  We aren't sure how much, as there is no truly accurate test to tell us.  Going by her last ERG (retinal test) she has essentially no 'dim light' vision.  So in the dark or on gloomy days we see our girl basically operating blind.  Also, when she is overstimulated or overly tired, she loses her vision.  Some days she doesn't look at me at all. Generally, she does seem to find us or look in our general direction but for photos we have to work pretty hard to get her to look AND smile.  We do this by extreme high inflections in our voices and some crazy sounds.  

As far as her hearing, the first thing we ever questioned, we believe it is perfectly fine.  She laughs at the kids when they scream, she hears Heidi bark and she LOVES music.  

For many months, hearing loss was listed as one of her symptoms because she failed all of her early tests.  But it was when she finally passed a sedated hearing test and we took it off of her symptom list that Dr. S ruled out diseases with hearing loss and narrowed in our options of possible diseases.  3 months later, we had a diagnosis!

Q:  What does a day in your home consist of as far as Mabel's care?

A:  Holding her!  

No but truly, she needs to be held alot.  Walked, rocked, swung.  She likes the pressure of being held tightly on our shoulder and she likes the movement that we can provide her that she doesn't get otherwise.  Other 2 year olds are running, rolling, walking, sitting, standing--all within 30 seconds.  She is missing that so we give her as much input as we can.

We wake up and have a bottle or tube feed, do medicine, and then see what kind of day we're going to have.  For the most part, her care is still pretty simple. She is little enough that when we do have to hold and move her it's still easy enough to do on our own.  There is typically a lot of crying in our home and most days I'm just counting down the minutes to bed time because her body will finally rest after hours of jerking and moving.  

Q:  As an ECE teacher who works with preschoolers with a variety of disabilities, I'm wondering if you plan to enroll Mabel in Pre-K when she turns three or if you will continue to work with therapists in your home. We do not live in the same school district, but I can tell you it would be a blessing and honor to work with her!

A: She'll be staying home.  Right now we are working with the PT and OT every other week because Mabel isn't tolerating therapy like she once was.  According to Mabel's type of NCL and the progression of the disease, she will lose skills rather than gain them.  Physically, we have most of the equipment here at home that we will need to hopefully keep her body from doing things we don't want it to do (spine curving, hips realigning, etc.) but we hope to still meet with the therapists like we do now just not through the Early Intervention program.  We will have to go to them. Her vision services will be more difficult to figure out but when the time comes we will look into it further.  

We want to provide the best care that we can while keeping her with us.  I kept Nora and Braden home to learn and believe I can do that with Mabel as well.  I also want them to have all the time with her that they can.

Q:  I feel like this may be overstepping but I have wondered so I'm going to ask.  I have read that Batten Disease is 'terminal' but what does that mean for Mabel? Have they given you a prognosis?

A:  There's just no way to tell.  I have read of families whose child have lived to be 28 months old and families whose children live to be 10 or 11 years old.  

Technically the prognosis is that Mabel will live to be around the age of 5 years old.

Q:  When did you first realize something was going on, what were the symptoms and what would your advice be to another mom who sees something similar in her child? 

A:  I knew that what was going on with Mabel was more than just a delay when there became a handful of symptoms.  For instance, failing her newborn hearing test wouldn't have been a big deal if she was sucking ok.  But then when she was taking far too long to eat because she couldn't suck so she wasn't gaining weight AND she wasn't hearing AND she was so lethargic AND we noticed she couldn't see us AND she missed her milestones AND she was seizing...

red flags were obviously raised.  

But even before that, I feel like I just knew.  Sure, when she was born she looked different and some kids do have different personalities from the gate but I KNOW my kids and this felt so foreign and so different immediately.  My instincts were screaming all along.  If you're a mama who feels like something more is happening with your child, you are probably not crazy.  And it's ok to look like you are in order to get to the bottom of it.  It's ok to get a second, third and fourth opinion.  

Do what you need to do in order to feel at peace with yourself and your child. Many doctors will not believe you and many doctors may not even know what your child truly has but that doesn't mean that you shouldn't learn all you can and then do all you can!

Oh and Mabel's symptoms were:
Hearing loss

Vision loss

Seizure disorder

Failure to thrive

Hypotonia (low muscle tone)

Developmental Delay

No normal baby reflexes

Does not feel pain

Small head and slight atrophy.

 

Q:  How are Nora and Braden?  How much do they truly know about what's happening with their sister?

A:  The redheads are great!  Really, really good.  

Every day there is some discussion about Mabel, whether intentional or not.  Braden seems to be more hyper-focused on death, although we have never told them that Mabel will die.  His heart is just very sensitive and I think that he feels deeply.  Nora is very wise and smart when it comes to Mabel and I don't think she needs to ask. She tells me how happy it makes her to think about Mabel being able to walk in Heaven some day since she can't do it here.  They are both very mature; far beyond their years.

I have talked with them gently about Heaven.  We approach it with excitement because as believers it is absolutely the greatest reward!  I explain how Stevie's sister, Stef is in Heaven with God now and how some day he will be too. We ease into the talks with alot of honesty.

I have finally explained that there is a name for why Mabel has 'fireworks' and why she can't see.  I told them that she has "Batten Disease" and Nora practiced saying it for an entire day.  Without knowing, they just know...far more than I wish they had to.

Q:  Sometimes I don't know what to do or say but I want to help.  How can I help your family?

A:  Sometimes doing or saying anything is better than doing or saying nothing.  

Practically speaking, you can help any family going through something like this by praying. 

 You can also offer to bring meals, sit with any of the kids while their mom showers, ask questions, hold Mabel, send an encouraging text, or offer to fold laundry.

It has been really hard for me to accept help but I am getting better at it.  I cannot do everything I once could do and am learning that slowly.  I have a great friend who brings dinner once a week for our family and I can't explain the security that has brought to me, knowing that it's handled for that day.  I have friends who text just to let me know they are praying and that they haven't forgotten what my life looks like inside these walls.  It is a great thing to want to be involved in some way for a family like ours so I encourage you to do so--

Find a family in need and help them, even just by praying!!!

Q:  What is your favorite thing to do with Mabel?  

A:  Kitchen dancing.  Hands down.

Q:  I think about you so often and wonder how you're handling things.  You're so strong, I just dont know how you do it all.

A:  Thank you for thinking of me.  It all looks strong from the outside but when you're doing it, you're just doing it.  I don't have a choice.  Mabel has to be cared for, the kids have to be schooled, the laundry has to be done, my husband needs to be kissed, life has to be lived.  

I'm doing ok. Actually most days I feel better than I have in a long time.  I am tired often and my back aches from holding Mabel on my shoulder but over all, things are really good.  

She is beautiful and she says "mmmm," wanting me all the time so I can't complain.  We have a pretty special thing, her and I.

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Thanks for asking these amazing questions and for wanting to be part of our lives!!!  Keep them coming and I'll do another post like this soon.  

Happy Sunday♥