Author: rileysroad

Advocating for Your Special Needs Child

Rod Paige (the 7th United States Secretary of Education) once said “There is no more powerful advocate than a parent armed with information and options.”

Now, as a special needs parent, I fully understand the truth in this quote.

Yes, every parent must know that part of their job is advocating for their child. It’s common sense, right? We all want what is best for them.

But, prior to January 2020, when I was just your average Mom with normally developing kids, there really wasn’t a need for me to advocate for them. We of course would research the best schools, pediatricians and other options out there but that was every day stuff that parents do.

In the past month alone I have done more advocating for Livvy than ever before.

Getting anything you need or want for your special needs child is a MAJOR task. And don’t expect for companies or vendors you work with to follow up with you. None of them will. It has been our job to do all of the follow up to ensure she is getting everything she needs when she needs it.

For example…

I have had to text our pediatrician requests on 8 separate occasions.

I have had to call a new pump company we are transferring to for Livvy’s GTube supplies 10+ times.

We have had 3 meetings to trial eye gaze devices, with a follow up meeting to come, before we decide on one and then wait weeks to months to receive it.

I have had to speak with our neurologist about medications twice.

I have had to schedule PT, OT and feeding therapy appointments.

I have had to personally email prescriptions and referrals from doctors to vendors because their fax number isn’t working or they gave me the wrong one. Side note: can we please stop using fax machines?!?!

The list goes on. Keeping Livvy as stable as possible is a full-time job. Especially as her disease progresses and her needs (medically and for physical comfort and mobility) change.

To any parents who are new to the special needs run around, know that you are not alone. The frustrating back and forth and hoops to jump through is (unfortunately) normal. It is up to YOU to make sure your child is getting what they need.

Support systems through DDD and the like offer some wonderful assistance but it still requires work on the part of the parent to get the ball rolling when it comes to getting any kind of device or specialized care.

Be your child’s voice. Be their strong arm. Go with your gut. You do know best.

Med Changes and Eye Gazes for Livvy

It has been a while since I posted. Mainly because it has been a busy month for all of us and one of many ups and downs for Livvy.

While Dave and the girls were in Italy, Livvy started having these random bouts of pain that were inexplicable. Nothing looked like it was physically or outwardly hurting her so we assumed it must be internal. After seeing her neurologist and explaining the issue he suggested trying a low dose of Gabapentin. We had tried Gabapentin when she was first diagnosed last year and she had a weird reaction like she didn’t like the way it made her feel. But this time, it worked! Those random bouts of pain went away and we were so grateful!

We also met with a palliative care doctor at Phoenix Children’s Hospital. He agreed with the medication routine she was currently on and we also inquired about THC drops, as we heard they worked well for other MLD kiddos. He said other families he has spoken have said they have changed their childrens’ lives and that it is worth a try so I placed an order at a local shop (Marijuana is now legal recreationally in AZ) and picked up some drops. Those also seemed to do a great job at lowering her anxiety/frustration and feeling better overall.

Next, (while everyone was still in Italy) we ran out of her Amitriptyline (drops that were prescribed to us in Italy because they couldn’t get her usual Nortriptyline). Thinking nothing of it, because doctors assured us these meds are really one in the same we moved her right on to the Nortriptyline. And it did not go well! She started having a similar reaction to it as she first did on Gabapentin. She clearly did not like the way it made her feel. So after consulting the doctor I cut her dose in half. Still didn’t like it. So I cut it in half again. And at that point the dose was so small I wondered if she even needed it. So we weaned her off and she has been doing great without it! MLD kids always have so many meds they take so when we can do away with one it’s amazing!

Next up on the list was getting an eye gaze device. These things are such a game changer! For kids and adults alike who can’t speak, it allows them to look at words and/or pictures on a screen and by a glance of their eye alone they can speak, make choices and express feelings. Getting one in a timely fashion, however, is no easy task but that’s a whole other blog post.

We began this process working with Livvy’s team through the Arizona Early Intervention Program (who children are enrolled with prior to three years of age and then they go into the Long Term Care program through DDD). After she turned 3 in May we had to send in the necessary paperwork to get it referred by our pediatrician and she just had her first two trials of eye gaze devices!

The first one we trialed was EyeTech, which seemed much more extensive in its options but maybe a little more cumbersome to learn and navigate. The rep mentioned one gentleman actually used CAD via this device!

The second we trialed was called PRC which Livvy seemed to be able to use a bit better but the options didn’t seem as extensive.

Tomorrow, we have one more trial with Tobii Dynavox, which is the option many other MLD kids use so we are looking forward to that and then meet with our therapy team next week to make a decision.

I hope this will be a device that Livvy is able to learn and use so that we can again hear what she is thinking or wants (or doesn’t want). Such a miracle! We are so excited!

Livvy’s Wish Came True

Today, thanks to the wonderful souls over at Make A Wish Arizona, Livvy’s wish came true – after only requesting it a few short weeks ago – and she was so happy!

If you saw my previous post, you know it was a swing set for her to enjoy with her sisters. And while parts of it (like the sandbox) still need to be added in, the whole thing is up and was revealed to the girls today – they were ecstatic!

Every time we talked to Livvy about it prior she would get a big grin on her face so I think when she saw it today she was partially in awe; it’s actually here!

And for a girl who normally hates laying down (she will usually just start screaming) she is on Cloud 9 in her magic carpet swing!

To know that she and her sisters will have so many more memories made together with this swing set brings me to tears.

Thank you so so much, Make A Wish Arizona!! ❤🙏🏼

Results from Keira’s 6-Month Post GT Check Up

On May 11th, Dave, his Mom, Eva and Keira returned from a two week trip to Milan, Italy for Keira’s six month check up after the gene therapy she received in October 2020. I stayed home with Livvy since the travel, time changes, etc. would have been too hard on her. And let me tell you those two weeks felt like two months.

While Livvy did seem to regress a bit while they were away, I’m very happy to report that all of Keira’s tests went so well! It’s a bittersweet balance with these two. As one regresses the other progresses. It is truly a miracle that Livvy was able to be Keira’s guardian angel and we got her diagnosis in time to get Keira treated.

Tuckered out after a day of testing on our recent trip to Milan for her 6-month check up.

And what a treatment it was! We will forever be grateful to the team at Ospedale San Raffaele in Milan for their hard work, dedication, compassion and kindness.

Keira went through quite a few tests in the two weeks they were there (see my previous post for a list) and everything is, so far, coming back within normal range!

The doctors said that based on her current development they would put her in the same realm as the children who have had the best results thus far! These children are now 5, 6, 8, and 10 (at the oldest) and are living completely normal lives – walking, talking, playing sports, going to school! Things Livvy will never get a chance to do but because of gene therapy Keira will! I can’t even put into words the relief we felt.

While we are still waiting on one major test – which will show whether her body is still creating antibodies to the ARSA enzyme it now creates (and never used to) – we are so pleased, to say the least, and so hopeful for her continued development.

She is saying two and three-word phrases now, copying everything we say, picking up on things so quickly, walking so much better, and at 16 months old is already showing interest in potty training (which our speech language pathologist was blown away by). It truly warms my heart to know we have years and years ahead of her where she will be doing more and more each day. Yet at the same time breaks my heart to know it was all taken away from Livvy. As always, bittersweet. But every day and every smile with our girls means the world.

For Those Extra Special Moms

To the mom who didn’t get “just a healthy one”:

A healthy baby .
That’s what you want.

Boy or girl? Doesn’t matter.
Just a healthy one.

With ten perfect fingers and ten perfect toes.
A tiny smile and button noes.

A brain that works as mine and yours.
Tests coming back with perfect scores.

A heart that beats strong—the rhythm of drums.
And the in and out breath of healthy lungs.

But then you find out it won’t be so.
An unhealthy child— so much unknown.

A journey full of winding roads.
Ups and downs. Such highs and lows.

A little one fighting for their life—
And you, strong beside them in perfect stride.

Just pushing them forward with all that you are— a mother who hasn’t backed down thus far.

This motherhood it will indeed be hard.
The heartbreak will leave inevitable scars.

Not a motherhood you had ever planned for—
But it won’t be less. It will be more.

More love needed and more to give.
An understanding compassion that is so so big.

More strength than you had ever known.
A faith in God and Him alone.

You’ll learn to hope beyond all reason.
And lay down burdens in every season.

You’ll fight and give up and fight some more.
You won’t be stopped by seemingly closed doors.

You’ll give more than you knew you could.
And though you’ll grow weary you’ll still see the good.

Yes this child— unhealthy as they may be.
This child has allowed you so much to see.

Joy and beauty.
Pain and sorrow.
A gratitude for every single tomorrow.

This child is adored— a gift from above.
A newfound passion full of motherhood love.

So this is to the mother of an unhealthy child.
Who holds up her head, moves forward and smiles.

Your motherhood was not the way that you planned.
But today you love more— and stronger you stand.

I’m not sure who wrote this but it was shared with me by another MLD Mom. And it is so true. To all my other extra special Moms, a very Happy Mother’s Day to you! ❤

Focusing on the Smiles

I don’t like posting about the hard days. They are hard enough as it is. Why rehash it for everyone else?

What I like to see on social media is the GOOD. There is enough bad in the world and on the news every day. And while we have been dealt plenty of bad in life, there are ALWAYS good moments and that is what I like to share. The positivity. The smiles. The laughs. It’s what keeps us all going each day.

In the nearly 48 hours since Dave and the girls have been gone I can’t even tell you the amount of times Livvy has cried. Sometimes it’s pain related or because she has food stuck on the roof of her mouth or because she needs to burp but mainly it was because I needed to get something done so she had to be held or strolled around by someone else. The moment she’s back in my arms? It’s this 👇🏼

Will it be a long two weeks if she only wants to be held by me and cry with everyone else? Yes!

But I have to always remember these moments. The smiles, and the laughs and the fact that we have no idea how much time we have left with this sweet girl. Every day counts. Every moment counts. Every smile counts.

Our 1st Return Trip to Italy

This morning, Dave and his Mom, Tammy, left for Italy with Eva and Keira for her 6-month post gene therapy check up. I’ve been dreading splitting up the family for this trip but it was the only way we could make it work. The trip would have been too hard on Livvy. So off they went. And I cried like a baby.

It will be nice for Livvy and I to have some quality time together but I will definitely miss my other girls (and Dave too). 😊 Thankfully, my Aunt flew out to help me take care of Livvy since it’s nearly impossible for just one person to manage her care.

As for Keira, I’m actually not really worried about her check up. She has been developing normally and is even advanced for her age in some areas.

Her treatment itself was done on our initial trip but they recommend check ups every 6 months that will eventually turn into every year. What they are mainly checking for is a complete lack of ARSA antibodies (and any symptoms of the disease). At her 3-month check up before we left Italy in January she still had some antibodies (her body’s way of fighting the ARSA enzyme that her body never used to create before gene therapy). So they need to ensure those are decreasing or completely gone.

Here is what they have on schedule for the next two weeks:

  • Neurological evaluation
  • PT evaluation
  • Psychological evaluation
  • Blood chemistry samples
  • Abdominal ultrasound
  • Electroencephalogram
  • Echocardiogram
  • Visual and auditory checks
  • MRI
  • Bone marrow aspirate
  • Lumbar puncture
  • Electromyography
  • Endocrinologal visit

It’s a lot. But really there’s only one day with sedation and the rest is spread out throughout the two weeks so they’ll still have time to relax and see a couple friends between those rainy days in Milan.

We’ll continue to keep everyone updated! Send all of your good thoughts and prayers Keira’s way! ❤🙏🏼

Olivia’s Wish

Since getting Olivia’s diagnosis, I have heard other MLD families talk about Make a Wish. I was familiar with the organization from being on the committee for their annual Wish Ball one year, which helps raise vital funds to grant wishes for all of the kiddos. Never once did I think my kiddo would be one of them.

But here we are. So, naturally, I started thinking about what Olivia’s wish would be since she can’t tell me herself. Most of the families seem to do trips somewhere but with how much we have traveled in the past year alone I didn’t think that would be at the top of her wish list. Not to mention I thought it would just make the destination this sad place where we once went for this sad purpose. And would we ever go back there?

So as I brainstormed other options over the last few months, we were also in the midst of looking for a swing set and playhouse for the girls. But how could we make it more accessible for Livvy?

Then it hit me. That could be her wish!Her two most favorite things in the world (aside from Mom and Dad of course) are “playing” with her sisters and being outside to watch the birds and planes go by. So I asked her, do you want a special swing set just for you and your sissies? She got the biggest smile and laughed. That was it!

Dave wasn’t at home when I got this epiphany so I immediately texted him and he loved the idea.

Thankfully, one of my friends and mentors was on the board for Make a Wish of Arizona so I asked if she would be so kind as to make an introduction. She did, and we got a referral from Livvy’s neurologist, and within a week we were meeting with the wish granters to discuss Livvy’s wish.

They asked all about Livvy’s favorite things (sisters and outdoors aside). To which I answered birds (the theme of her upcoming 3rd birthday), dogs, Minnie Mouse, and her fave bands, Maroon 5 and The Beatles.

Within two days Make a Wish had sent her a little bird house with stuffed animal birds that tweet (she and Keira both love it), and a Minnie Mouse with a dog on a leash. She was so excited! While she can’t make them move herself, the Minnie actually walks the dog and talks (which actually scares Keira 😆) and we help her out with the birds.

We are so grateful to have Make a Wish be a part of her life and bring even more smiles to her face. Within the next few weeks her wish of a play set will be granted and we’ll be sure to share pics!

The Interview: School for Livvy

Schooling was not something we considered would be possible for Livvy given all of her limitations. However, our coordinator with the Arizona Early Intervention Program urged us to look into it and apply so that she is in the system whether we decide to move forward or not. I figured how hard could it be to apply her to school?

Well, it has been a process.

After a zoom call with someone from her school district, an in-person evaluation was planned for a month later. Of course this fell the week after her surgery in Utah (that caused the CSF leak she had) so she was not in the best of moods but I had canceled once before and just wanted to get it over with.

Assuming we would be meeting with that same person, we walked into the room and were surprised to see 6 additional people sitting in chairs bordering the room, each spaced 6 feet apart and wearing their face masks. Woah. This truly caught me off guard and left a bad taste in my mouth upon leaving. They grilled us with questions about her abilities (or lack there of), one question after another.

Can she sit upright on her own? No.

Can she crawl or roll? No.

Can she feed herself? No.

Can she point to what she wants? No.

The list goes on and on. It was essentially an ugly reminder for us of everything she has lost from this terrible disease – all just within the past year.

While they understandably needed to get to know her if she would be in a classroom, it was a rough hour. 

Weeks later we had a zoom call with everyone that was at the in-person meeting to determine eligibility together (insert eye roll here).

At this zoom meeting they proceeded to tell us that she has severe delays in each area. Please tell us something we don’t already know, I thought. But that she does in fact meet eligibility for schooling in their special needs program.

“Would you like to know what this looks like?”, they asked? Why not, Dave and I thought. They then proceeded to tell us that if she starts in the fall, it would be a three-hour day beginning at 9am where she would have both time in her stroller and being held by a teacher for more interactive “play” with other students. Snack time would include food brought from home. There would be one teacher and two assistants in the classroom who would all learn her medical needs to care for her properly and keep her comfortable.

Prior to all this, Livvy was in so much pain each day, and so irritable, that we thought there was no way she would be able to attend “school.” But since her last surgery which removed the internal port she has been so much more comfortable, and happy! While it pains me to think that thing caused her unnecessary pain this whole time, now that it’s out and she’s more stable I could potentially see this as being an option for her. Being around her sisters makes her so happy that I think being around other kids would make her just as happy.

So, I asked Livvy if she wanted to go to school with other kids and she smiled the biggest smile and laughed. So that takes care of that! We are now beginning the process to enroll her at the school down the street from our house and come August will see how she is doing and if she is still up for a change of scenery. 😊

Books to Read: Harnessing Grief

I have never met author Maria Kefalas in person. Yet she helped to save our daughter Keira’s life. Within 24 hours of receiving Keira’s diagnosis on June 19, 2020, Maria informed us we had a chance to save her life with gene therapy, connected me with the team of doctors in Italy and sent us a $2,000 check to kick off our fundraising to get there. I will forever be grateful to her and the work she does through CureMLD.com and the Calliope Joy Foundation (named in her daughter’s honor).

That’s why for the first time in well over a year, I took what little spare time I had to (slowly but surely) read a book. Her book, Harnessing Grief: A Mother’s Quest for Meaning and Miracles.

Of course, I could identify with much of what her story entails as one of her daughters also has MLD. But I had no idea how instrumental she and her family truly were in developing so much research, attention and care for those within the MLD community. I cried, I laughed and was even surprised at some of the likenesses between our lives.

It’s nearly impossible to make sense of your life once your child is diagnosed with a terminal illness for which there is no cure. What is the meaning of this? Of life? And why would such a darling, innocent soul be faced with such a death sentence?

“Sometimes I wondered if I was supposed to have Cal in my life to learn a different way of looking at the world, to see the perfection of her divine love, gifts that do not require words and which must be condensed into such a short life…The fact that she [Cal] is so joyful despite this terrible disease was in so small part because Pat and I were her parents, he believed, and we shouldn’t underestimate how much our love saved her.”

I agree completely with Maria and Pat’s assessment to make sense of all this, and feel the same way about our Livvy. She is smiling more in the past week alone than she ever has before. How could so much joy be radiating from a child with her fate? Because despite the pain and suffering she is truly happy; she has us. 

Another hard thing for parents to do when it comes to this disease is consider what terrible fate the future holds for their child and looking back at all they could accomplish just a year, a month, or even a week ago. This disease strips them of their abilities that quickly.

“In the week’s after Cal’s diagnosis I realized how dangerous these visits to the past can be. You can lose yourself in the grief over what’s been lost…The same thing can be said about contemplating the future; you can become immobilized with fear if you dwell too much on the ending of your child’s story. Living with Cal called us to live with no sense of the past and no thought to the future. Even as the disease stole more and more from her, we had to train ourselves to be grateful for what was possible each day.”

For us, it’s Livvy’s smile and her laugh. If we see those even just once a day it’s a win. Looking back at the memories thrown at us via Facebook feels like a punch in the gut. It’s devastatingly sad to think about the future that was stolen from her by this horrible disease.

So how do you take this fear of your child’s future, your future, and turn it into something positive? Cal (short for Calliope) taught Maria just that:

“Cal has taught me that when the worst possible thing happens, you have nothing left to fear…She has taught me that when you have tamed your fear, you harness its power to do extraordinary things. “

And the work Maria and her family have done to help others inflicted with their same pain, and grief, is nothing short of extraordinary.

You can buy Harnessing Grief on Amazon for $19.99. 100% of the proceeds go to the Calliope Joy Foundation in order to help other families like ours. ❤

Maria – we thank you from the bottom of our hearts. You are an angel to the MLD community and we are forever grateful.