MEF2C Journey
Parents: Audra & Philip Kimmet (William- b2017: frameshift mutation)
Milestones Missed and Early Intervention
Milestones Missed Early Intervention
Not using hands to grasp, eyes seemed to cross more than most babies Ophthalmologist- farsightedness, stigmatism, and cross eyed (esotropia intermittent). Glasses, a patch for a short period and he would later have 2 successful surgeries on the esotropia.
Not sitting independently, not crawling, not walking, not babbling/talking Referred to “Help Me Grow”- state funded early intervention program 0-3 yo children; at 2yo started OT, PT, Speech, later would receive ipad talker for communication
Daycare=illness, which initiated febrile seizures Referred to a DDBP, genetics dept. and neurology for an EEG. Some prescribed seizure meds, and other have initiated keto diets
More vision concerns (depth perception, transitions, unstableness) Ophthalmologist- CVI Dx
Behavioral concerns, biting hands, sleeping issues Autism Dx- ABA therapy, clonidine prescribed as sleeping aid
Ohio Medicaid Waiver process:
At 3yo Will transitioned from HMG to an SSA within Hamilton County JFS who helped us fill out the paperwork for an OH Medicaid waiver. SSA helped fill out Medicaid Waiver paperwork.
Info requested during the application process:
- SSI denial letter (we made too much money for Will to qualify for SSI, but we had to prove it for Medicaid). I ended up calling SSI, told them we knew we would be denied but just needed the denial letter for Medicaid, they sent that to be 2 days later, this was faster than applying and waiting to be denied. We received a lot of mixed feedback on this from social media and physicians. It was finally made clear during this process, that SSI is income based, a Medicaid waiver considers Will an individual person and does NOT take into account parents’ income.
- W2s, paystubs, adjusted gross, etc.
- Drivers licenses- copies
- Insurance cards- copies
With our approval letter came a card to use as our secondary insurance from there on out. And we signed up for Caresource bc it’s the main provider for most of the ABA therapies we had Will in. There is a part of this budget that can also be directed toward home improvements, so we were able to get a special gate (that I wasn’t able to find off market, for a particular part of the house), and recently had them install alarms/sensors on a few main doors since he has become quite the eloper.
Therapy 101
During early intervention intense therapy at Perlman Center (2-3yo) we were receiving OT/PT/Speech 2x per week. Once we exited that program we did one of the 3 therapies a season, keeping it fresh and trying not to burn him out. Once preschool started, he got each of these at school, so we dedicated less time outside of school unless there was a particular goal we really wanted to focus on. In school it is a strict rule that they will only focus on things needing assistance in school. This can become frustrating for things like self -feeding. During pre-school (half day) Will only has a snack, and bc he didn’t eat a meal in school, they refused to add it to his goals. So, we would save things like this for outside private therapy to focus on.
PT (Physical Therapy): During PT we focus on Will gross motor skills. For most of his sessions this concentrated around crawling, climbing, walking, getting in/out of chairs, walking up/down curbs, muscle memory, muscle strength building, and finding motivations to use it all.
OT (Occupational Therapy): This was new for us. This is more fine motor skills and furthermore, brain to body processing. Lots of muscle memory here too, especially to combat the frequent stimming. Holding objects for longer than 10sec, self-feeding (who knew loading a fork, bringing to mouth, and putting fork back down was ~9 steps to master), using pinchers, pointer finger segregation (for ipad selections), drawing, putting objects in/out, etc.
Speech: This was honestly more a therapy for us than Will. We learned a lot about communication devices, software, CVI friendly symbols/colors, how to stimulate different areas of the mouth muscles (Z-vibe), techniques like O-W-L Observe/Watch/Listen. We learned when asking Will to do a simple command, it needed to be 3 words or less, and needed to be repeated at least 3x, slowly, for him to fully process. Salient language use, scanning environment . . ASL (he has a few signs), he says 1-3 words, lots of sounds, and will always be a multimodal communication kid.
ABA (Applied Behavioral Analysis): This is a controversial one, but when conducted appropriately can help enable great progress. At one point in time, we debated if full time school or full time ABA was best for Will bc he got so much more out of ABA during the ages he was in it, and in Ohio, you can’t do part time school. ABA is typically used to help people with autism and other developmental disorders learn behaviors that help them live safer and more fulfilling lives. ABA focuses on teaching necessary skills and stopping dangerous behaviors rather than preventing harmless self-stimulatory behavior (stims). Here are some beneficial techniques we personally got out of ABA:
- Increasing social abilities like completing tasks- this looks like Will focusing on coloring for more than 5 min without moving around
- Communicating- ASL and ipad enforcement vs temper tantrums when he’s not doing a preferred activity
- Learning new skills- Will can pick out the letters of his name, but by no means did he learn these letters like most preschoolers . . we started with matching . . match this “W” to the “W” you see on the page . . and maybe the “W”s are also the same color to help
- Implementing maintenance behaviors like self-control and self-regulation/ Reducing negative behaviors like self-harm- Will went through a period when he was biting his hands/fingers, to the point that they became dry and started cracking/bleeding. Positive redirection helped him stop doing this. Other autistic children may bang their heads against the wall or find other self-destructive behaviors, ABA really helps redirect these behaviors.
- Teaching them to transfer learned behaviors to new environments- Will learned to scan his environment better with sequencing books. Page 1) a duck on a white background . . “Will point to the duck” Page 2.) a duck in a bathroom with a tub . . “Will point to the duck”. Page 3.) a duck in a bathroom with 3 other toys and a yellow towel laying on the ground by the duck . . “Will point to the duck” . . . Will can find and point to the duck, until it’s lost among other things like it on page 3. With a flashlight we then scanned the page left to right to help him find the duck. This technique has allowed Will to literally scan the environment he walks around in daily. There was a point in time that if we put all of his toys around him in a circle, he would not know how to get out. Now he can navigate. We can still put up a clothesline at the family lake and Will won’t know how to go over or under it.
- Modifying the learning environment to challenge them in certain scenarios- This was simply putting a toy in front of the chair Will needs to get in to eat his lunch, and have him figure out how to get around the toy.
Likes/Dislikes/Motivations:
Will loves anything with lights, sounds, music, books (flipping the pages), food, drink (we switch up what kind of cups he gets to keep him on his toes), water activities, going for long walks, walking up and down stairs repeatedly, bouncing (trampolines are a favorite). He does not do well in large venues when clapping occurs . . clapping by an audience can really set him off into full tears. We’ve tried normalizing him to this with just mom and dad clapping for him if he does something great. . . and he likes that, but add in more than 2 ppl clapping and it’s over.
Random Notes:
- Keep a binder of all medical records (paper or digitally)
- Understand insurance, deductibles/out of pocket max, etc (as healthy adults with no children yet, this was a whole new world to us)
- Create a 1 pager of all medical info (parents, contact info, medications, allergies, medical history, immunizations, contact info for all physicians, insurance info). This became immensely helpful when discussing Will’s uniqueness with new physicians, caregivers, daycare, nanny, etc.
- Help Me Grow: We were assigned a specialist that met with Will 1x per week. Initially this was at home with us, and then they went to Will’s daycare and met him there 1x per week. They were helpful in providing simple developmental advice as well as references for therapies, doctors, etc. Once Will aged out of HMG (only for children 0-3yo) they were crucial in connecting us with an SSA who would later help us qualify for an OH Medicaid waiver.
- When Will was having seizures we looked into medications and diets to help. We agreed with the Neurologist, who wanted to prescribe him a daily medication, that we would not start taking that medication unless Will had seizures UNRELATED to fevers. This never happened, although we picked up that med, we never needed to start it. Separately we’ve heard keto diets have reduced seizures in other MEF2C kiddos. We never needed to take this to the extreme, but we have certainly tried to keep him on a more protein, less carb diet in case this becomes an issue in the future. Will loves ALL food, so this isn’t difficult to follow.
Resources:
- Genetics Dept.- Initially our Cincinnati Children’s genetics dept was the most useful giving us the actual Dx, how to digest the medical jargon (what the heck is a mutation vs deletion and how do they phenotypically present differently), what to expect, cure vs treatment, a couple quick referrals and recos, along with the MEF2C trifold, AND the global FB page for parents and medical
- Facebook support pages: MEF2C (MHS) parent support & chat group (largest global group of parents only and in the “files” section there are numerous docs on MEF2C and medical journals, along with personal stories, and a log of those with MEF2C globally), MEF2C Medical Personnel and Families, MEF2C US Family Meetings Clinical Assessments & Regional Advocacy Efforts