Welcome to our Caring Bridge site. We've created it to keep friends and family updated. We appreciate your support and words of hope and encouragement during this time when it matters most.
On 3/22/12 we finally
received the diagnosis we had been searching for 6 months. Batten Disease
(NCL1), a rare fatal neurological disease that currently has no
cure/treatment.We have watched a VERY happy, smilie & active girl lose
her ability to go up stairs, walk, eat & drink on her own (the list
goes on, but I can't go there now). This disease has robbed her of the simplest
things smiling & giggling. FYI - to those that aren't part of her daily
life. We use the feeding tube for liquids & medicine. It is amazing how
fast you can see the difference when you give her Tylenol thru the tube. She
still eats any concoction that I can puree for her. (Brats, roast, crackers,
veggies, fruits, hot dishes, thin crust pizza.)
http://www.bdsra.org/ http://www.bdsra.org/Changes Late Summer 2011 - No longer crawling up the stairs. Trying but not able to make it
happen. Early December 2011 - Able to feed herself finger
foods at least 50% of items making it in her mouth. Late December
95% of items not making it in her mouth. Week of Diagnosis
(3/22/12) no longer able to hold her cup up. April 2012 -
Mayo Visit April 25th, 2012 - Had her Feeding Tube placed.
Hated doing this but it is way easier to get meds in & not worry about
some things. She was able/willing to eat pureed items at the hospital before
discharge but quit for 2-3 days at home & slowly got back to
normal. Early May 2012 - no longer able to suck thickened
milk out of a cup. Proof of why it was beneficial to have the tube placed
before we absolutely needed it. June 2012 No longer able to
walk but still stands up and tries. July 2012 No longer able
to stand or crawl, but still tries. It looks like she is doing a gymnastic floor
routine to move around the room. Her hands aren't working as much anymore to
grab at items or push buttons. August 2012 No longer able to
self sooth her self to sleep with her pacifier. We are now holding her till she
is asleep & then transferring her to her crib
overnight. Sept 10, 2012 We think the seizure monster is on
the doorsteps. Myoclonic Jerks we believe, granted we all have
them. Sept 14, 2012 EEG Sept 18, 2012 They
didn't see seizures on the EEG, but it still showed the potential. Though since
we were there Friday she now has Myoclonic Jerks that keep her awake. In
Nuero's eyes she is starting to have Myoclonic Seizures and we are starting
meds. Fall 2012 I suspect that we are losing more sight but
her hearing seems heightened. Eating by mouth seems to tire her out and take a
while but we keep doing as much as she allows. Sometimes she is too tired so I
just blend up some concoction. We have received her bed and
stander. Winter 2012 (just barely) but I need to be correct
because her brother kept telling us it wasn't winter. Wheelchair on
12/24/12!!!!!!!!!! January 2013 - All her goodies arrived,
Cape, boots, mittens, Blender, rain cape, lap blanket. Feb
2013- we are slowly losing more head and upper body control. But she continues
to grow, moving into 4T because she is so long (36"). 2/6/13 Got Hi-Lo Activity Chair. April
2013 - Vision update, she is able to tell when it is light or dark, but that is
pretty much it. Stair Lift was installed. May 2013 - She is
not able to control her head at all. We have devised ways to help her keep her
head up in her many pieces of equipment. Sept 11, 2013 weight is 34 lbs 1 oz., moved into 5T clothes,
Nov 6, 2013 weight is now 35 lbs 3 oz **April 9, 2014 weight 34 lbs, height 40.5" ***The weed has officially moved to size 6. Can't get away with 5T anymore since the weather is getting cooler.
12/16/14 Visit to Pain Clinic, weight 47.75 lbs, Height supposedly 40.2" (the nurse wasn't even sure how to measure her). I know she didn't shrink height wise. Weight doesn't seem right either....nurse was a ditz!
9/18/15 weight 39.82 lbs, height 42"
1/19/16 Left Femural & Pelvic Osteotomy (Spica Cast)
12/16/16 Femural Plate removal-
10/10/18 weight 42 lbs
3/21/19 weight 43.8 lbs Spinal Fusion from T2 to Sacrum
5/8/19 weight 45.1 lbs & 124.4 cm
8/31/19 weight 47.17lbs (21.4 kg)
12/16/19 weight 50.49 lbs (22.9 kg)
