Week Six Lucas Gene Therapy

4/18/21 Sunday - Practiced Soccer in a nearby parking lot!

4/19/21 Monday - Remote Video Capture

Worked on filming some of the skills I need to film as part of the study. I have an app that they supplied me with that I’m required to stay on top of. The first round of videos was due this week. I filmed his eye movement, sitting, standing, walking, communicating and extra skills.

4/20/21 Tuesday 

We visited the river walk and saw two snakes, about 20 turtles, butterflies, a few geese, ducks and 4 deer all during that single walk! 

Hard to see since I am zoomed in, but tons of cute turtles

4/21/21 Wednesday - Blood Work

Went to St. Peter's for blood work today. We were there for four hours because the first time they took the blood, most of it clotted right away, so most of it wasn't a good sample. Then we tried again with a finger stick to get the rest of the blood we needed. I was glad that was the only thing we needed to do at the hospital this week!

4/23/2021 Friday - Parking Lot

This afternoon we went over to a nearby church parking lot to draw with chalk. Lucas was much more interested in just exploring the environment. He collected rocks, sticks, bark pieces, pulled weeds, put the chalk in and out of the stroller and just walked around. We literally stayed there for an hour and 40 minutes and he was as happy as can be! It was wild! (I was a bit bored, but realized that it is super calming to do nothing but stare at sticks and rocks for hours)

New skill: While we were there we walked over to a line of trees and I said “Tree” and then he said “Tree!” (Tee) something kind of like tree. 

4/24/2021 Saturday - Lake Papaianni

Nice quiet day again - went to a lake this afternoon that wasn’t too far away. It had a nice walking path and we saw a boy scout catch a fish! It was very exciting. :)  The New Jersey Transit train went running nearby multiple times while we were there. 

I am enthralled with how into rocks, sticks and little things Lucas is. He stares intently at the ground, scanning until he finds something he likes, picks it up, holds it in his little fist for a while, continues collecting until both hands are full, until he finds the next shiny rock, bright leaf or acorn and the process starts all over again. 

New Word: Lovie (Yuvie - something like that) Stick - tried to say stick today :) Has also been working on saying Laya (yaya or something)

4/25/2021 Sunday

Lucas took two good naps today because he stayed up later than usual last night. He's staying up a little later again tonight because of the extra nap, so we’ll see what happens. :) 

During Lucas’ nap I watched a nice video on the Church of Jesus Christ YouTube channel that inspired me to write a new song - so I worked on that for a little while today. Very fun for me. 

New Skills: Lucas tried a new word today: Duck. He also successfully stepped down from the sidewalk curb. He was practicing that skill today.

It was nice to have an uneventful week! Only one more week before we get to go home!!! I think Lucas has adapted to living here and just thinks we live in a hotel room now. ha ha

Life Summary and Natural History of the course of GM1 Gangliosidosis

The following summary may be helpful for people who are looking at what a natural history of GM1 looks like. I wish I had something like this when my boys were diagnosed. I searched for hours and hours to figure out what the course of the disease looked like, but never found much specific information. I've put together this condensed 15 minute version of his life video and the summary of skills and losses below.  This is a glimpse of his life from the perspective of GM1 for educational purposes. He is, of course, much more than his diagnosis and we believe his spirit lives on and he will someday be resurrected along with the rest of us! :) 

Eli Leishman Born March 2009

2009 - 0 - 12 months 

• Normal Birth

• healthy baby - Very chubby, 

• Failed first hearing test, but then passed one year later (found out he had a slightly lowered hearing ability in one ear). 

• 3 months on Babble, giggle, laugh

• hold and play with baby toys - 4 months and on

• Learned to sit (6 months), crawl (6 months)

• walk (11 months) 

• 9 months says “da da, ba ba and Ma. 

• 10 months Plays peek a boo. Shaking his head no and sometimes nodding. 

• 11 months - blows his own nose, signs all done and says mama and dada - says “bah” for ball. 

Problems: 

None

2010 - Age 1 

• 13 months - How to open the screen door to the backyard by himself. 

• 15 months - walking faster and well, but does seem to fall easily. Trying to jump, but not lifting feet off the ground. Listening better and staying out of the cupboards more and playing in his special kitchen cupboard. Listens and understands a lot. Understands simple commands.

• 18 months - throws balls all the time. Says more words. Pretends to talkin the phone. Loves to eat and asks for food all the time. Carries things, closes doors, gets into cupboards and toilet and toilet paper!

• Also learned to Feed himself, drink from sippy cup, walk faster, play pretend with sister, dance, push himself around on tricycle/little cars/trucks (never learned to pedal, just scoot using his feet), push baby stroller, bang his hands on the piano and sing high notes, babble, 

• word approximations for words like Dog, Mama, Dadda, Bath, baby, Go, more, all done, out, Ball, Basketball etc.  

Problems: 

• Seems to fall over a lot. 

• Most other children have more words, clearer words, as they reached age 2. 

• He understands simple directions, but 2-step directions or more were a little more difficult for him to follow. 

2011 - Age 2 

• Can almost run (a bit slower than other kids his age)

• Jumps with one foot getting off the floor.

• Climbs a lot onto things like stools and countertops, tables

• Can point to photos of real objects to choose activities or what food he wanted

• stack blocks, put a basketball into the hoop at his level, throw balls

• very curious and would pull everything off of the counters within reach

• Can jump both feet off the ground. Would jump off of things like the top of the bed’s headboard onto the bed

• says words like “Laugh, vroom, Laya (his sister) All Done (Ah Dah), Book (Bah), Bread (Beh), Dada, Drink/Dog (Dah), Hat (Hah and touch head), More (Mah and touch mouth), Moo (Mmmm), Mama, Please (Puh), Stuck (Tuh), Walk (Wah and grab stroller bc wanted to go), Yes (Dah), Could sometimes say two words together and babble more

• Loves water, not scared at all. 

• Sings songs. 

• Picky eater. 

• Can’t sit for long. 

• Loves to help me put clothes in the dryer. 

Problems: 

• His eyes began to cross - strabismus

• messier eater than other children his age (could use a spoon and fork, but pretty messy with it)

• short attention span

• had to wear an eye patch over his right eye for months. 

• Falls down a lot and scrapes his face or sometimes cuts himself especially with the eye problem. 

• Balance Issues - Had a hard time balancing in a floaty on the pool (would still manage to fall over and get his face in the water when other kids could sit in the floaty just fine). 

• Worried about his speech development, hasn’t made much progress in the last 6 months. 

• He climbs fine, but then falls off of everything. Stuffs his face with food. 

Surgery: 

• Eye surgery on Left eye to correct strabismus. 

2012 - Age 3 What he learned: 

• Could do simple puzzles and blocks with some assistance. 

• Points at things and babble sentences of what he wanted. (not understandable mostly) 

• Feeds himself finger food. Drinks from sippy cup. Uses a spoon, with a bit of a mess. 

• Wear glasses and leave them on (mostly). 

• Rocks a baby (toy baby doll), 

• Put his picture or name up on the board at preschool, 

• sit in a little chair (instead of the rug) during rug time at preschool to help him stay engaged, 

• play socially with friends, siblings and others, silly personality, 

• climb the steps and slide down our backyard slide, 

• walk up stairs holding on to the wall and climb down stairs on his stomach (feet first) or slide down the stairs on his bottom, 

• paint and color a bit at school or home (for short periods and with assistance). 

• PT says balance & coordination like an 18 month old. 

• OT says he was difficult to score him due to his other issues (cognitive and vision). But overall he is somewhere from 18 months to 2 years in skills. 

• He could stack a few blocks. It is good that he has begun taking off his socks shoes and shirt with help. A good goal would be to play with toys one at a time so he can learn to focus more. 

• Words: Truck (Tuck) Listening better and understanding more. Will sit to listen to a simple story, becoming more obedient for diaper changes. First one to hear when Daddy comes home and yells “Dah” as soon as the garage door opens. Loves treats and squeals in delight when we mention them. 

Problems: 

• Seemed to have less awareness of danger than other kids his age - would just walk straight into a pool or put himself in precarious situations - eye problems contributed and just fearlessness or lack of understanding. 

• Kyphosis of the lower spine - was prescribed a back brace and wore that long, hard brace for many months. 

• Poor balance and even worse with the back brace (still wearing that) - so began to put a bike helmet on him for protection from falls. Bad cut on lip from fall and got stitches. 

• Has some bad falls. 

• Fighting his glasses so started doing eye drops in the stronger eye to strengthen the weaker eye, but then began to keep them on much better. 

Surgery & Procedures:

• Eye Surgery - Another eye surgery on both eyes

• MRI shows delayed or immature myelination (white matter in the brain). Do therapy and follow up. 

• Inconsistent hearing when testing his left ear, right ear seems good.

• Chiropractor saw Eli did an xray and said he has issues with pelvis and neck. Did an x-ray of neck and found some twisted bones so scheduled some adjustments. 

2013 - Age 4

• Knew where to sit on the school bus

• follow the routine at preschool (with assistance), 

• loved to play on the playground at school (crawl through tunnels etc), 

• can climb on the couch still but not climbing higher like he used to, 

• allowed Laya to dress him up (play dress ups) with just a little irritation during the process, 

• continued to select what food/activities he wants by choosing between photos in a little photo book. 

• Went potty in the toilet a few times. 

• Note from preschool teacher: People who know him from last year are amazed at how he sits at circle by himself now, participates in centers, and transitions between activities.

Problems:

• More falling and balance problems 

• further genetic testing with no definitive results

•  seemed to slow down cognitively (slower response times, more staring),

•  loved music toys - anything that played music, 

• Speech Therapist reported him being unable to focus on the testing pictures. Need larger or real photos to capture his attention. 

• Eye doctor says he has no depth perception 

• Preschool called home multiple times to report injuries from falls at school. 

Surgery & Procedures: 

• eye surgery on his right eye again to correct strabismus. After surgery eyes looked a lot better, but after follow ups recommended to still do eye patching. 

2014 - Age 5 

• Began to wear a protective helmet for falls

• Began to sit in a booster seat with a seatbelt at the table, 

• SItting in a stroller more when out and about since walking was difficult, 

• began to use a walker for stability

• Could bounce on the trampoline on his knees

• Could sit cross legged and play with toys

• Could scoot across the entire room on his knees

• could walk with his walker or by pushing a stroller. 

• Determined to continue to try to walk and get up each time he fell, 

• He can still say some word approximations like when he wants to eat or when the bus is coming, he'll say “Buh” for bus. 

• Understands when I say it’s time for a nap, to eat, go outside or get in the car, but has a harder time following other commands. 

• Uses walker at school in kindergarten to walk all over, but sometimes falls with it. 

Surgery & Procedures: 

• Diagnosed with GM1 Gangliosidosis Type 2, 

• Latest MRI showed no change in Myelin of the brain since he was two and flattened shape of the vertebrae in his spine. 

Struggles: 

• No more jumping, 

• Could not walk well anymore, falls frequently. 

• Didn’t have the coordination to feed himself food anymore. 

• Can’t wave hello, say bye bye, nod for yes, Doesn’t say all the words he used to, 

• doesn’t play pretend anymore (like pretending to talk on the phone) 

• can’t kick a ball anymore 

• can’t use a spoon/fork anymore, 

• Fine motor hasn’t improved, can get things with his entire hand, but not fingers. 

2015 - Age 6

• Weight 39 lbs in September. 

• Could pull himself up to stand if he had something to hold on to. 

• Got a wheelchair, 

• Began to wear a patch again on his right eye for a few months, needed more torso support when seated in a chair, 

• Could still play with toys on his knees and scoot around, 

• Went to Florida for Make a Wish Trip, 

• loved to stand and bounce and jump while holding onto someone’s hands, 

• Sometimes repeats “Bu Bu” for bus. Says “Pa pa” when eating pizza. 

• Can crawl ok, but not well or far. 

• He can use the walker if there are open spaces and no obstacles, getting difficult in the house. 

• Loves wiggling and bouncing. 

•  Loves music. 

Struggles: 

• Working on getting a bath chair since he is falling over in there. 

• Eyes are opening and shutting oddly (fast and repeatedly) when he is tired. 

• Coughing, crying and whining a lot at dinner bc he is having a hard time with the food. Changed the caloric density of formula in September to be more dense to help with spitting up and choking. 

• He pulls people’s hair and bites, (might happen on a daily basis, when he gets the urge) but not maliciously.

• No more walking on his own

• Continuing to fall and injure himself (cut his eyebrow for instance) even though he wasn’t walking. 

• Trouble eating by mouth and lost a bunch of weight in one month leading up to his G-tube surgery. 

• Spitting up more frequently throughout the day. 

• Beginning to have swallowing issues, thickening his water all the time. 

• Spitting up usually every day. 

• Falling with the walker so getting a gait trainer. Received the gait trainer in June. 

Surgery & Procedures: 

• G-Tube surgery for feeding tube

2016 - Age 7 

• Still eating some foods by mouth - Feeding specialist recommends moist foods that have consistent texture like refried beans, mashed potatoes, yogurt and can have foods that dissolve quickly like puffs or pieces of soft crackers. When he has a couple signs of struggle, stop that feeding for that time. He eats very small amounts. 

• Stopped wearing a back brace a while ago - Physiatrist said the back brace will not help his condition since it is a bony problem that plastic can’t fix. It is better to do more standing, stretching and positioning in the chair, as well as figure out a standing position that is better for arching back. His spine is very curved, but shouldn’t be in pain. 

Struggles

• Slowed growing (stunted maybe), same weight as he was at age 4-5 and not much taller. 

• Got sick multiple times at the end of the year, fevers, colds/congestions, sinus infections multiple times, half his face swollen from infection of salivary glands (probably from not swallowing food effectively). 

• February to August had seizures every day - multiple times per day, the tonic/clonic type (focal seizure disorder), ranging from 5-13 seconds long. The seizures started out as what seemed like muscle spasms after our trip to NIH which was long and exhausting. 

• Eye appointment saw significantly far sighted, strabismus, light damage to retina, optic nerve looks fine. Best to keep glasses on for the next few years. 

• 
  

2017 - Age 8

• Can look at people’s faces, but not focusing well. Likes to look at lights, like Christmas lights.The retina in his eyes are still functioning and seeing somewhat, has a bit of corneal clouding. 

• Got a stander half way through the year and is able to tolerate that for up to an hour. 

Challenges:

• A few very bad choking episodes lasting an hour and longer, coughing up blood. After that, gave him only water for a few days and then gradually increased to 300ml and started choking again at that volume so stayed there. 

• Kyphosis spot in his lower back has been red and sore lately, adjusting his wheelchair to accommodate. 

• The nutritionist recommends 1300ml of water every 24 hours and 1000 cals per day, we struggle to get that much into him without severe agitation, spitting up and choking. (this is all via the G-Tube)

• Beginning to have cold extremities - blue toenails, getting wool socks. 

• Stopped going to school at the end of 2017 (December) because of scary choking problems happening at school and he was sleeping through the morning.

•  Doesn’t eat anything by mouth anymore. Digestion seems slower than before. A few bad choking episodes this year. One terrible one in September in which his faced turned white and the problems lasted a good hour.  

• As of September, he has lost his ability to get up on his knees on the floor.  

• Had some trouble breathing at school, gave breathing treatment. 

• July - started giving prune juice regularly to help BMs. 

• Grinding his teeth a lot. 

• Been very tired in the morning and falling asleep in his wheelchair. 

• Having choking episodes all throughout the year, often one or more per day. 

• Drooling a lot. 

2018 - Age 9 

• Laughed and smiled when we talked to Grandparents on Facetime. 

• Usually has ok bowel movements

• Began wearing fully supportive ankle braces to help with feet pointing and stiffening and to protect them.  

Struggles

• with formula is getting about 750 calories per day, weighs about 37 lbs or so. Meds - Keppra, Prevacid, Metamucil/miralax, cuvposa for drooling, anti-gas, acetaminophen, lorazepam for anxiety/dyspnea, albuterol sulfate via nebulizer. Fussy a lot. He has sores on his right hip and ankle. 

• Agitation and hyperventilating, super fast heartbeat, in his bed, during evening times, sometimes.

• Is startled very easily with noise at times. 

• Has infection and fever. 

• Grinds his teeth a lot. 

• Sleeping is getting really off. Thought the Cuvposa (to help with drool) was drying him out too much and making choking worse, so stopped giving it.

• Having wheezing problems from time to time. 

• Some very terrible choking episodes again this year. 

2019 - Age 10 

• On Keppra (for seizures), Anti Gas for digestive discomfort, Prevacid for Reflux (for all the spitting up), Miralax and metamucil for regular bowel movements, Diazepam for severe agitation. Coughing and choking has been minimal lately. Gets approximately 550 ml formula for the day and 700ml of water via feeding tube each day. 

• Has about 4-5 wet diapers per day, had some concerns about delays in wet diapers, but after doing enemas it seemed to resolve. 

• Took the kids to a jumping place and Eli had a blast. He smiled and laughed a lot! 

• Massaged his jaw and he stopped grinding his teeth one day. 

Struggles

• Has chewing and swallowing difficulties daily for at least a few hours a day. 

• Develops sores from rubbing, usually on his feet off and on. 

• Has regular agitation on a daily basis, often in the afternoon/evening lasting 3-6 hours, due to digestive or neurologic, not always sure. 

• Sleeping during the day usually 8am to 1pm or later. Sleeps at night usually from 11pm to 8am. But often not sleeping well and waking frequently. 

• Struggles with bowel movements off and on, give enemas to temporarily resolve. 

• Continue to adjust his formula, have water fasting days as needed to help him tolerate being fed through the feeding tube. 

• Doesn’t use eyes to focus anymore. 

• Sores on his ankles from rubbing and fussing with his feet. A few times, seizure-like activity, after none for a few years. 

• Tried hospital bed to keep him upright at night, but struggling to keep him safe in it, so he can’t hurt himself when he is agitated. He was getting stuck in the bars. 

• We stop giving him formula periodically so his body can catch up. 

• Switched to letting him sleep in a large lazy boy chair, with us monitoring him at night to make sure he doesn’t fall out. Struggles a lot sleeping flat in a crib. 

• Some fevers, lots of struggling at night, sweating, agitated. 

• Working hard sometimes on Bowel Movements. Experimented with running his feeding at nights off and on to go at a slower pace. Tried anything we could to help him. 

• Arching his back a ton and seems uncomfortable. 

2020 - Age 11 on March 31 and Died on May 5th, 2020

• In the weeks leading up to Eli’s death, one of us stayed by his side constantly (Brad or I)

• Eli died at 11 years old and one month from lack of nutrition and dehydration. 

• One significant moment - Eli laughed (haaaa) and smiled as Brad placed him in my arms to snuggle. 

• One of us had been taking turns (since December) sleeping nearby Eli to monitor and help him at night. Had baby Lucas in room so took turns sleeping in living room near him. From March to May, we brought the Lazy Boy Chair into our bedroom for him to sleep in so we could sleep in our bed as we listened for any problems from him.

• Off and on Eli has had some good days/nights - sometimes he would laugh, seem to feel calm/comfortable or sleepy. 

Struggles

•  March 2 Eli is very thin and needs constant monitoring, not doing too amazing.

• March 5 Brad said he hadn't slept all night as he monitored Eli, he knew how terrible Eli's night was. Usually he's asleep so he doesn't see how things are for Eli all night. But Eli was tossing and turning all night and was basically awake all night long.

• March 7 Eli seemed pretty comfortable this last 24 hours. He seemed to sleep pretty well, although I think he was awake some, but I'm not sure since I was exhausted last night. He is sleeping peacefully right now.

• March 18 Eli was awake probably half the night, with swallowing and breathing difficulties.

• April 9 - Eli smiles on occasion still. Bowels are moving ok, breathing ok. Lots of swallowing and reflux issues. Likes to cuddle in his chair. He is a joy. Seems to be in pain often, face seems tight and furrowed brow. 

• April 24 - Foaming at the mouth all day. Only tolerating 200ml of formula for the entire day 

• April 26 -  Severe agitation, fever, elevated heart rate, gave morphine 

• April 30 - Eli isn’t sleeping or resting really at all and not breathing deeply.