Early Intervention MEF2C Timeline/Experience

Parents: Audra & Philip Kimmet (William- b2017: frameshift mutation)

Initial Journey leading to Dx

3-4mo: Was not using hands, and eyes seemed to cross more than most babies by this age. Saw 1st ophthalmologist who passively dismissed anything being wrong.

6-8mo: Was not sitting independently.

8-10mo: Was not crawling, and still falling over when sitting. This is when our general pediatrician referred us to “Help Me Grow”, a state funded early intervention aid for children and parents when children are not meeting milestones. This group would inevitably become the MOST helpful aspect of understand what was going on with Will.

10mo: Started daycare and became very ill multiple times. Febrile seizures occurred 3x in 72hrs during a virus which placed us in neurology for an overnight. This is when we received an MRI, got a spinal tap (viral meningitis caution), and were referred for an EEG. We were also referred to the genetics dept at this time.

12mo: Genetics dept confirmed microarray was normal (no major deletions or duplications) but recommended a full behavioral panel analysis (we were told it would be a 50/50 that insurance covers this b/c to some it’s considered exploratory). This is also when we saw our 2nd ophthalmologist who diagnosed Will with farsightedness, stigmatism, and cross eyed (esotropia intermittent). Will received glasses, a patch for a short period and he would later have 2 successful surgeries on the esotropia.

15mo: Will and my husband and I received word that our insurance would cover the additional genetic testing and all 3 of us were tested. Results would take 3-6 months. Around this time, we were also referred to a DDBP (division of developmental and behavioral pediatrics). This pediatrician advocated for additional therapies and diagnoses. They would later prescribe clonidine for our sleep aid as well (something the general ped cannot do). Will began crawling around this time.

18mo: Received the MEF2C Dx, which initiated a slew of additional potential DX’s we needed to investigate and therapies. Started intense PT/OT/speech therapy at Cincinnati Children’s Perlman center. Group therapy rotations, 2 hrs per day, 2x per week for ~6 months. Crucial to Will’s early intervention, and our parental learning, but incredibly difficult to manage with 2 working parents and a newborn (Will’s younger sister was born when he was 14mo, and she would become the best OT/PT/speech a parent could find they both inevitably learned to walk within the same 2 months).

2yo: Will was beginning to take steps, but his full ‘walking’ potential would take 6 months to really walk with a purpose. We would later find out that CVI was a major contributor to this, Will was not able to process transitions (IE: carpet to hardwood), even at 6yo he sometimes bends over and crawls over transitions and then gets back up again. 2nd ophthalmologist did not agree that Will had CVI, but we knew at this time from speaking with other MEF2C parents that this was probably based on his symptoms. Another MEF2C parent referred us to a Cincinnati Childrens Ophthalmologist, who confirmed Will had CVI (“textbook case”). This Dx also attributed to getting Will a ‘talker’ ipad communication device at school with a keyguard and CVI friendly symbols which immensely aided his communication. We also learned tips like putting tape on the edge of stairs, and Will learned to go up/down steps within 2 months of application. This was also around the time he was diagnosed with Autism. The Autism Dx unlocked SO MANY beneficial insurance covered codes related to behavioral treatments which we received in our home which helped with muscle memory (lots of repetition) and play therapy (using Will’s fav objects to learn).

3yo: Transitioned from HMG to an SSA within Hamilton County DDS who helped us fill out the paperwork for an OH Medicaid waiver. Notes on this process are below. We needed to pull Will from Daycare around this time, because his health became a major concern. Will was having seizures with every fever he acquired. We also learned that there is no such thing as public provided daycare. All daycares are privately owned and therefore abide by their own rules. Extra monitoring for eating, naps needed after 18mo (because he doesn’t sleep well at night), assistance moving to different activities (rather than rocking in a corner all day), all at the mercy of the daycare . . . and they can, and did, say ‘no’. We decided to hire a nanny around this time, who would stay at home with our 2 children, soon to be 3. We had 3 children under 3 at one point in time. Knock on wood, Will never had another seizure once he was removed from daycare. He transitioned to preschool during Covid, and then Kindergarten in the public school district after, and his body learned to combat fevers without seizures. He is now in the public school district (one of the best in OH for special needs kiddos; our private schools do not have the resources will needs to grow) and he is on a very complicated but robust IEP (which incorporates OT/PT/Speech/mobility and a 1:1 para).

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.

Dec 2019 (Will was 2.5) I really pushed my HMG specialist to put us on the Medicaid waiting list. She did, I was told it would be months just to speak to someone. Hindsight 2020, I think that we just needed to wait until he turned 3 (May 2020) bc when that happened, I got a call 1 month later stating that I was officially put on the Medicaid call waiting list. So ~April/May, someone from Hamilton County DDS told us someone from JFS (jobs and family services) would be making an appointment to talk to us. They did, and in July they got our 'story'. This is where I, in so many words, said that Will's safety and well-being was on the line if we did not get assistance. Got a few tips from people to leave out how much you need it for medical reasons bc technically Medicaid sees that as an insurance thing, although everyone knows having Medicaid as a secondary for medical is like #1 reason for most . . just dont harp on it. We basically said Will could not be managed by 'private' daycare, and my husband or I would need to quit our job to care for him outside of preschool hours or pay an expensive nanny. (Not the whole truth but at this point we need to get some sort of aid). During that interview, I also asked for an SSA (something my HMG specialist told me to request . . . it's basically like a HMG person to help you navigate the system). Once I requested the SSA, one called me the next week. She got my story again and finished up the Medicaid waiver paperwork. I never realized there was a difference bw Medicaid and a waiver, but by qualifying for the waiver, we ended up getting both. ALWAYS ask for timing and 'next steps', or you wont even know who to call back to check in on things during this process. We were told when you 'graduate' from HMG at 3, you really must 'reapply' with DDS who will then pass you to JFS for that SSA, but you must request one. The waiver process was ‘revamped’ around the time of our request. In the old system you heard of ppl sitting on the waiting list for 5-10 years. With the new system, there is a different categorization. There are 4 types of categories you will be put in 1) you're going to die if you dont get immediate assistance 2) you have a need but can 'last' for up to 12 months 3) you have a disability but you dont need aid and 4) you dont have a need, no aid will be provided. We were put in bucket 2- so we expected it to be up to 1 yr (this is what ppl refer to with the old 'waiting list' horror stories of being on a list for 5+ years). Our 'wait' was less than 1 month, and we were extremely lucky.

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. We would no longer pay for anything medical for Will, not even a copay. It became even more convenient bc he was still helping the family contribute to our deductibles. Diapers would now be covered as well, as our insurance did not cover these before the waiver. Some providers will only accept Medicaid if it’s through a 3rd party (CareSource is one of many). In addition, our nanny agreed to get qualified to be an independent respite provider (so we didnt have to pick a new one) but this would basically cover our cost of nanny. We did have to logistically figure out our other 2 kiddos bc if shes getting paid by waiver money, shes not allowed to be taking care of other children. So we ended up working out a scenario to overcome this concern. Our SSA has continued to be amazing for all of the little questions. 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. The amount that Will is allotted yearly is incredibly ‘hush hush’, but we’ve never been turned down on hour requests for the nanny, or any home ‘modifications’. We have been told there’s a cap, we just have no idea what it is (it’s at least 35k considering we know what the nanny gets paid hourly). The nanny has gone on vacation with us twice now to help with Will when we travel, and this has never been turned down either (we pay for her travel and accommodations privately, but her hours with Will for the days are covered). The SSA comes to the house 1-2x/yr for an ‘audit’ and to check in on goals with our provider/nanny, but that’s about it.

Therapy 101

I will not undermine anyone in this section, however I will start by saying I had no idea what OT was until Will was enrolled, so I’ll take a brief step back to explain our experience with each therapy. 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

- www.usmef2cfoundation.org

- www.simonssearchlight.org