Advocating Alaina Lynne

Apparently kids thrive on routine, especially PACS1 kids, who knew😆

I’m literally the farthest thing from routine- I mean there are certain things that I do in order but not necessarily specific time of day.

After 3 years and getting daycares routine, Alaina has a plan!

A summer bootcamp routine if you will 🤣

Goals for summer: potty train, bed train and midnight bottle away (she does well with this other than when she has an ear infection or sick).

We’re currently working on ABC, 123s, colors and how to say her name.

Do it not because it’s important and essential, but because you don’t want to mess with their mamas 🙃👊🏼

Last I posted we were having ear issues & I felt so defeated that day.

Fast forward a week later, Lainey is acting like her most self and having an appetite back. Brought to you buy ear drops that “weren’t necessary”. When a mama knows, a mama knows.

A few other updates: Alaina is talking SO MUCH. I can tell you we’ve reached toddlerhood because “no” is every other word 😆
She has been putting words together- I want that, back up, clean up. And my favorite thus far- I love you mommy.

The picture is with her “graduation” gift form her vision therapist through Delta Gamma. Her journey ends with her vision therapist through EI since she’s turning 3. We will add a vision therapist as needed! Unfortunately we won’t know how Lainey’s vision is until she’s able to tell us 🩷

Andddd our sweet girls birthday is May 18th! She’ll be 3 🥹

Alaina had an ENT appointment today because the last few months have been how it all began….ear infection right after the other with no relief from the ear drops or oral antibiotics.

She’s not sleeping
She’s not herself
She’s so cranky

Together we’re exhausted.

And just like I thought, the appointment seemed useless. They said her ears look fine and the tubes will be coming out soon.

I just want her to have relief. I wish she could tell me what hurt and what was going on. I feel defeated as a mother and so many other areas.

This is total number of families registered in their corresponding countries. This is not all of PACS1 families but a good chunk of them!

110 in other countries
80 in the USA

Alaina has been in therapy since she was 5 months old- I took her because we kept getting told how “stiff” she was. Being a new mother I didn’t know any different. What we didn’t know was the other targeted issues that we would find and later overcome as a team! Through perseverance and determination Alaina has overcame so many obstacles and milestones.

The best piece of advice when it comes to therapy is find the therapist that clique with your child! Read that again. There are some therapist that just don’t fit well with your kiddo and that’s okay! We don’t have to like everyone….but when you do find the one that your child just naturally works hard for and has fun doing it. That’s when you know you have found the one AND will have the best outcomes!

I write this because as a new mother at the time I thought we would go to the therapy’s that were closest to us, that was the most accessible and it made sense!! But as time went on, I would see Alaina shutting down and they would constantly have to push her to try but it was just getting us no where. Or I just felt as her mother they weren’t doing the right things. OR they would work on one goal, she would achieve it, then she would be “graduated” and no longer need to go to therapy..

Finally, this past year I called around and got her accepted in amazing therapies in Edwardsville and Alton (in addition to her EI team) and we have the best team hands down right now! We will be sad to be ending our journey with EI come May, but that’s okay. The best is yet to come 🩵

Always trust your gut & find who fits your child!

For some reason it won’t let me upload the video:

Therapy doesn’t have to LOOK like therapy, sometimes it looks like a sunny day & some chalk! ☀️

Alaina caught onto this so fast & loved it!

Stole from another PACS1 mama, and all I have to say is PREACH👏🏼

Not only this specific, but teach your kids not to stare, not to judge & simply BE KIND & love all💕

In the time of searching what Alaina had “wrong with her”, I had to listen to doctor after doctor talk about her “abnormal” physical features. The whole time I’m thinking okay, my daughter won’t look like me, what she hasn’t isn’t mine or Tyler’s or whoever’s it’s all just a scientific finding and it HURT. Do I think she looks abnormal? Nope! I think she’s a beautiful mixture of us both.

Not only was it doctors, two other times broke my heart. Two times a child said to me “why does she look so funny?” Once I held it together, ignored the kid and continued on with my adult conversation. The other was at raging rivers and me and Alaina were having the best mommy daughter day, I held it together for maybe 5 minutes. But I couldn’t pack our stuff fast enough and get Alaina in the stroller before the tears started falling.

Kids make honest mistakes, they have no filter, they’re beautiful in that way. But please, at a young age, teach them not all kids are the same & sometimes words hurt, HARD

This week is tough today Alaina had her autism test & Thursday she has her transition meeting- meaning transitioning from EI to the school system.

1. Her autism test went as expected- inconclusive.

Autism is technically not be diagnosed until age 3 because of misdiagnosis and some children may not show apparent signs. However some undoubtedly show signs very early on and can get a diagnosis.

Development delay can be diagnosed as autism. Alaina would show signs of “autism” such as eye contact, lack of social skills, not showing appropriate emotion, her love for wheels and lights. She makes eye contact, has social skills, shows appropriate emotion and now the toys are not as concerned.

Alaina has global developmental delay and where she is at intellectually is appropriate. So at this time they are unsure if she truly is and will continue to be followed and retested if needed in the future. Before we went today we knew what the answer would be and agreed we don’t want her retested until closer to age 5 when she’s intellectually older and more developed to appropriate age.

2. Alaina is in early intervention, where she gets Occupational Therapy, vision therapy and developmental therapy. Her transition meeting is to bridge the gap between ending EI and starting therapy within the school district after she turns 3 and starts school in August.

We outsource Alaina’s speech and another occupational therapy through Knights of Columbus, and will soon be starting physical therapy twice a month as well. So you see Alaina will never go without therapy and the services she needs. We taken it upon ourselves to find these resources and get her to them.

With that being said, your child special needs or not, DOES NOT have to go to Pre-K. It is great for social skills and all the learning. However we are NOT sending Alaina come August.

We’ve been pressured into her going and have seemed to be guilt tripped in throwing the idea that she’s not going. But I will not feel bad for making a decision that best fits Alaina. Tell me, would you send your child if he/she was intellectually a 2 year old and not able to tell you what happened in their day?

You have to educate yourself and advocate for your kids because no one knows them like YOU do. And at this moment, Alaina’s social skills will come from her friends at daycare and at home. Her therapies will be outsourced. And we will continue her learning here at home 🩷

JOIN US in congratulating Dr. Alicia Guemez-Gamboa on her recently published paper on PACS1 Syndrome in the prestigious journal, Nature Communications. ​​🎉

Entitled "iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity,” the publication provides a first-of-its-kind look at how the PACS1 p.R203W variant impacts normal brain cell development. Guemez-Gamboa's research involved experiments on neuronal cells generated from the skin cells of both PACS1 patients and healthy donors. Her findings deepen our understanding of how PACS1 Syndrome affects brain development and pave the way for potential therapeutic breakthroughs.

Key Findings Include:

1.The R203W variant leads to many of the same deficits reported in autism, potentially contributing to autism spectrum disorder, and intellectual disability, conditions often seen in patients with PACS1 Syndrome.

2.The R203W variant results in the PACS1 protein having new toxic activity rather than inactivating (or producing less of the normal PACS1 protein)

3.This finding above has major implications for therapy development, because it means that shutting down the mutated PACS1 protein will likely help PACS1 patient symptoms

4.Moving forward they will test therapies on their model systems to see if it rescues deficits in PACS1 Syndrome neuronal cells, which is a huge step forward towards developing effective treatments/cures for PACS1 Syndrome.

Read the publication here: https://www.nature.com/articles/s41467-024-44989-7

This cutting-edge work was made possible thanks to the generous support of our donors. Our $150,000 seed funding over three years was pivotal in enabling this research. Dr. Gamboa acknowledged our role, stating, “Huge thank you to the PACS1 Syndrome Research Foundation Research Foundation for their seed funding, which made this research possible. We look forward to our continued collaboration as we push forward, more determined than ever, towards finding treatments and a cure for PACS1 Syndrome.”

A heartfelt thanks to our PACS1 community. YOUR SUPPORT IS MAKING REAL SCIENTIFIC PROGRESS POSSIBLE. The path ahead holds promise, and this research will undoubtedly inform future PACS1 studies, aiding in the identification of potential targets for therapeutic intervention!🌟

This sassafras wanted a dog box out of the choices of dog, dinosaur or monster!

I think it looks like a panda 😆 but she loved it once I was done because it was way to sensory overload for her to help make!

I absolutely love doing all the fun holiday things with her❤️

🌍 Today, we observe PACS1 Syndrome Awareness Day 🌍

Let’s come together to celebrate the remarkable children living with PACS1 Syndrome and the incredible parents and caregivers dedicated to filling their children’s lives with care, joy, and love
💜

PACS1 Syndrome, a rare genetic neurodevelopmental condition, is faced by only a few hundred individuals worldwide. It presents challenges like intellectual disability, developmental delays, speech and language difficulties, seizures, and mobility issues - all of which will require lifelong support. Despite such hurdles, these children are a constant source of inspiration and happiness to everyone around them.

On this Awareness Day, we want to share a hopeful message: PACS1 Syndrome is a SOLVABLE DISEASE, and our progress toward a cure is more promising than ever. Join us in supporting the amazing children and families affected by PACS1 and championing the research that offers the potential for a brighter future for them all.

February 7th- National PACS1 Syndrome Day!

Did you know there is little over 200 cases WORLDWIDE?

PACS1 neurodevelopmental disorder (PACS1-NDD) is characterized by mild-to-severe neurodevelopmental delays. Language skills are more severely affected than motor skills.

Alaina was diagnosed October 22, 2022. One year, 5 months and 4 days after she was born. From the day Alaina was born, she was taken to the NICU 20 minutes after having her by a team from Cardinal Glennon, we heard there is something wrong with her but we don’t know what up until diagnosis date. After various tests of various syndromes, diseases, etc. all came back negative until we had a full exome sequencing test which months later came back PACS1. This is how most PACS1 kids stories are…..knowing the unknown until one test can bring you an answer- the test is $24,000. This is why most people are still undiagnosed because cost of testing & lack of resources.

& new info found form another PACS1 mama- turquoise or blue is the unofficial PACS1 color! So if you don’t have a Alaina PACS1 bowling shirt, wear blue!

Drop a comment if you in your blue or Alaina shirt!

Even better- post a picture, make public & tag Advocating Alaina Lynne to help spread awareness!

Alaina & friends will be celebrating with chocolate chip cookies thanks to Espresso Yourself Bakery!

Hello all!

I’m often posting about my daughter Alaina on my personal Facebook, as I always will, but I thought creating a page specifically for her would be a great way to bring awareness to PACS1!

Follow this page to see updates on Lainey, PACS1 and what our lives look like!