Smoc1: Hope’s Journey With Ophthalmo Acromelic Syndrome

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Smoc1: Hope’s Journey With Ophthalmo Acromelic Syndrome This page is to chronicle our journey with OAS.

Our prayer is through Hope’s journey we can raise enough awareness to interest the research community to learn more about OAS.

Today was Check Hope’s Heart Day! We got to see our favorite Dr Mouseybits!!Great news! Hope’s heart looks amazing! Her ...
22/01/2025

Today was Check Hope’s Heart Day! We got to see our favorite Dr Mouseybits!!

Great news! Hope’s heart looks amazing! Her heart wall has finally healed enough that Dr Mouseybits is not concerned about her occluder device as she grows. He is confident enough that she doesn’t have to come back for 2 years!!

As always Hope rocked her EKG and Echo. They were able to get great images and readings.

Here’s to being able to check her heart off the worry list!

Here we go! This little princess polar bear is is off to her appointment with every pair of shoes we could find so that ...
19/11/2024

Here we go! This little princess polar bear is is off to her appointment with every pair of shoes we could find so that her new inserts can fit into whatever she wants to wear. IF she will keep them on! IYKYK.

Side note: Hopey has been pretending to be “little polar bear”🐻‍❄️ for several weeks and I’m totally here for it. Pretending is such a huge skill for her!

Description:
Hope stands in front of a colorful mural at the Ronald McDonald House wearing a Belle dress and smiling

We made it to Greenville this afternoon and have settled in at Old McDonald’s House. We have already met some amazing ne...
19/11/2024

We made it to Greenville this afternoon and have settled in at Old McDonald’s House. We have already met some amazing new friends and had a yummy dinner. Now we’re tucked in so we can be ready for our appointment tomorrow!

We had an early start to our day! We are on a plane and headed to Shriners. We are going to pick up Hope’s new shoe inse...
18/11/2024

We had an early start to our day! We are on a plane and headed to Shriners. We are going to pick up Hope’s new shoe inserts. These will help cushion and protect her cute little 4th toes and hopefully prevent or prolong amputation surgery.

Hopey is so excited for a plane ride and a trip to Old McDonald’s House!!

Hope picked up a new specialist and a new diagnosis this week. We met Dr N, a pulmonologist/pediatric sleep doctor. He d...
01/11/2024

Hope picked up a new specialist and a new diagnosis this week.

We met Dr N, a pulmonologist/pediatric sleep doctor. He diagnosed Hope with Non-24 Sleep Disorder or Circadian Rhythm Dysfunction.

Non-24 is fairly common in people who are blind with little to no light perception. Hope’s big sister has this diagnosis as well so it didn’t come as a surprise.

So what is Non-24?
The body runs on an internal clock that actually has a cycle that is longer than 24 hours. When a person who can see enough light wakes up in the morning and sees the sun, their body clock resets to zero and doesn’t continue through that extra time. That reset doesn’t happen for people who can’t see light or enough light. Their bodies travel through that extra time past 24 hours.

What this looks like for Hope is her sleep cycle travels around the clock. Sometimes she is going to sleep at 7 or 8 at night and waking up at 6 or 7 in the morning. Since her brain thinks the day is longer than it actually is that cycle changes and Hope is going to sleep at 5 or 6 in the evening and waking up at 3 or 4 in the morning. It just depends on where her body thinks it is in the sleep wake cycle. There’s no real way to predict it.

So how do we treat it?
This is a little harder. There are no medicines for children with Non-24. So we are going to try a combination of melatonin therapy and light therapy. This will also be combined with a strict routine in the evening and maintaining a consistent sleep environment. For her light therapy, we will be getting a light box with 1000 lumens and Hope will sit in front of that every morning when she eats her breakfast. So that possibly with her tiny bit of light perception, her body will start to recognize that it is morning and reset her sleep cycle.

Hope and Happy had a rough test done today. She had her Video Urodynamic Study (VUDS). The goal was to see if there has ...
24/10/2024

Hope and Happy had a rough test done today. She had her Video Urodynamic Study (VUDS). The goal was to see if there has been any improvement in her bladder function and sensation since her spinal surgery in January.

The news is mostly good. The pressure in her bladder has come down to a safe level. Before surgery the pressure in her bladder was too high and was one of the reasons we decided to go ahead with the detethering.

The doctor and I were also able to see Hope react to her bladder being full and Hope said “don’t p*e don’t p*e”. She kept trying to hold it. The good news there is that she felt it!! Hope barely reacted during this test before her surgery.

The only tough news is that her bladder is extremely overactive.

This test was just one more confirmation that we made the right choice with the spinal surgery.

Princess Hopey and her new pony (Cheese It) had a biiiig day at Shriners today. X-rays, a visit with Dr Hyer, and gettin...
12/10/2024

Princess Hopey and her new pony (Cheese It) had a biiiig day at Shriners today. X-rays, a visit with Dr Hyer, and getting molds and casts made for new orthotics in the Princess Room. All in all it was almost 3 hours of appointments.

The scary surgery we thought Hope was going to need has been put off for a little while. We are going to try fully custom shoe inserts first. If that doesn’t work we will explore custom shoes and go from there.

I’m beyond grateful for Shriners Children's Greenville and all of the resources they have. And the care of everyone we encounter there. I’ve never known a hospital to feel like home like this one.

I’m also extremely thankful for a dear friend who gave her time to come to the appointment with me so I didn’t have to do hard things alone.

01/10/2024

Increased awareness of SMOC1 at the Global Genes Week in Rare in Kansas City last week. We made more great connects to push our research forward.

The appointment today was hard. The details aren’t important. I know that just sparks curiosity even more. Right now we ...
30/07/2024

The appointment today was hard. The details aren’t important. I know that just sparks curiosity even more. Right now we need to make decisions as a family before I’m comfortable sharing precisely what we learned today.

Basically, Hope will be having surgeries in the fairly near future. How soon and how many are not yet determined.

Hope and I will be coming back here in October and that appointment will determine what happens next.

It’s not a life threatening situation. But it is a big decision.

Hope had fun riding in the “vancar” to and from Old McDonald’s house. The rocking horses still bring her so much joy.

We met new friends and spent time with old friends.

Tomorrow we head home.

After a long travel day with a 2 hour weather delay we finally made it to Greenville! We are tucked in at Old McDonald’s...
29/07/2024

After a long travel day with a 2 hour weather delay we finally made it to Greenville! We are tucked in at Old McDonald’s House (Ronald McDonald House) and ready for our Ortho appointment tomorrow!

Huge shoutout to Children's Flight of Hope!! They make it so easy for us to get to our appointments!

Sharing this amazing graphic by my friend Effie Parks for her podcast Once Upon A Gene. So many times people ask what th...
26/07/2024

Sharing this amazing graphic by my friend Effie Parks for her podcast Once Upon A Gene.

So many times people ask what they can do. Especially when Hope is in crisis. And even just in our day to day.

I never know how to answer. I don’t want to be a burden or a bother to anyone. I also don’t want to deny someone the opportunity to bless someone else.

So this list has some really great suggestions that don’t only apply to when we are going through crisis. And they apply to any family like ours.

This Rare Life is hard and we are often very overwhelmed. And I feel isolated because when your child is going through so many things people kind of disappear. I can’t always make or keep plans because if Hope throws up randomly, my whole life gets derailed for the next several days. We can’t plan that.

Families like ours don’t always know how or when you can help, but boy do we appreciate it when you just show up!!

Hope has had quite the ride lately. Our lives have been full of follow up appointments and tests since her last hospital...
25/07/2024

Hope has had quite the ride lately. Our lives have been full of follow up appointments and tests since her last hospital stay.

In big news: Hopey turned 6 and graduated preschool last week!

We still don’t have answers. None of the doctors can give us an answer as to why Hope keeps going into acidosis. Her bloodwork continues to show something is wrong. Her GI doctor and her nephrologist are both running tests.

So far we know something is wrong but no one can tell us what it is.

I’ll be vulnerable a moment. As a mom, this feels impossible. There is something wrong with my daughter. Something that puts her little body and her life at risk every time she vomits. All they can say is that it shouldn’t be happening.

It is happening. And she is displaying symptoms of acidosis every time she vomits.

I feel like I’m screaming into the void and no one is listening.

So we have no answers and I keep fighting.

SIX YEARS OLD!!!Every birthday with Hope is such a blessing! Each one is another year she’s beaten the odds and written ...
16/07/2024

SIX YEARS OLD!!!

Every birthday with Hope is such a blessing!
Each one is another year she’s beaten the odds and written her own story.

This tiny little girl has been through more battles in her six years than most adults experience in a lifetime. She approaches life with joy and abandon. Hope is fearless and does hard things every day.

Hope has come through some hard things this year. She is the strongest most unique little unicorn.

Hopey we love you so so much! Happy Birthday baby girl!!!

Here’s the scoop on our departure yesterday. At prerounds I let the resident know that her iv had said it was occluded o...
25/06/2024

Here’s the scoop on our departure yesterday.

At prerounds I let the resident know that her iv had said it was occluded overnight and Hope said her arm hurt. Her little veins were so tired. The resident immediately put in the order to stop fluids and the nurses did about 5 minutes later.

I was a little frustrated that neither consult we asked for came to see us as that is what I was told was a main reason we stayed overnight.

She spent some time in the playroom before morning rounds. She had already taken a whole boost. The doc told me if she could drink another boost and at least one cup of water we could go home.

In true Hopey fashion she waited until the absolute last minute and then decided to blow us all away. Golly got her to eat some peanut butter on a spoon and finish the rest of her Boost. So we got discharge orders!

We’re keeping her out of school one more day because germs. We did try to return to some of our normal routine with PT this morning since we haven’t moved much that last few days.

Best news is we have our Hopey back!!! She’s happy and singing and pretending to have her own podcast!

I’ll update later with next steps.

24/06/2024

Guess What!!

Sunday Evening UpdateHope took a step backwards today. The morning started out great and she was eating and drinking and...
24/06/2024

Sunday Evening Update

Hope took a step backwards today. The morning started out great and she was eating and drinking and then she started refusing everything again.

The doctors are very concerned about her not maintaining her fluid intake and going back into acidosis.

So they put her back on fluids. 1/2 Maintenance which means it’s not as much or as fast.

I think Hope and I both are pretty disappointed. We don’t know if we’ll go home tomorrow and honestly I’m too worn to speculate.

She also broke out in a very uncomfortable rash all over her belly and chest. Not sure what caused it. So she’s resting now with some Benadryl.

Thanks to Daddy and Golly and Sissa I got the chance to take a long break off the floor for about and hour. It’s the longest I’ve been off the floor since we got here.

I’ll update after rounds in the morning.

Sunday Morning Update We had morning rounds.Good news: Her kidney labs looked amazing. She is standing, walking, jumping...
23/06/2024

Sunday Morning Update

We had morning rounds.

Good news:
Her kidney labs looked amazing. She is standing, walking, jumping and laughing!

Concerns:
She is still not eating and drinking enough. The doctors are most concerned that if she doesn’t start hydrating herself without fluids she will go acidotic again and we’ll be right back where we started.

Plan:
We’ll be here another night. Our doctor wants her to be seen by Nephrology and possibly GI when they come in tomorrow. And she needs to be drinking a lot more before we can leave.

Saturday Evening Update We had some great time with Golly and Sissa! Sissa beat both her parents in an epic game of Brai...
23/06/2024

Saturday Evening Update

We had some great time with Golly and Sissa! Sissa beat both her parents in an epic game of Braille Uno! Golly worked her magic and got Hopey bouncing and dancing a little.

They stopped her fluids this evening. So they are hoping that will encourage her to eat and drink more. She’s eating a little more but still not drinking enough. We’re a little concerned that her kidney is working too hard.

So they will draw more labs in the morning. And we’ll go from there.

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Going Home
Going Home

Guess What!!

Amazing nurses
Amazing nurses

Content Warning: you will hear Hopey screaming in the background. I’m sharing this because nurses! This is from last night when the vascular team came to start a new iv. I have a song I made up for Hope to help her with all of the hard medical things she has to go through. One of the nurses who was helping with her iv last night was our nurse when we were here in January. She remembered our song and before they came in she taught all the nurses the song. And they sang it together to help calm Hope. Nurses are angels.

She’s blind. Why are you teaching her to write? She’s blind and capable. One day she can have a job and a bank account and a home. One day she will need to sign her name. One day she wil be an independent, literate adult. This week Hope wrote her letter H all by herself! We are so proud of her!

BIG NEWS!!

Hope Strutted Her Stuff at Laps for Little Ones this morning. This is the biggest fundraiser of the year for her school, The Little Light House of Central Mississippi!

This girl is so strong! She worked hard in PT today lifting weights! 💪🏼 This helps her worok on gaining a little more range of motion in her elbows and prevent her from losing any range of motion she has now.

This is a big developmental step for Hope! She’s scribbling with a Braille writer! This is similar to a sighted preschooler picking up a crayon and scribbling on a page. This is a big step towards future literacy. Recently Hope has begun to show much more interest in books and feeling Braille.

3 years ago we welcomed Hope into our family!

I will post a longer update when we get to the house. That’s right, we’re going home. It was a rollercoaster of a day and we did get answers. Just an unexpected one.

Hope rocked speech therapy today! A year ago hearing this many words and hearing new words from Hope felt like an impossible dream. Hope is doing well now repeating words she hears and using word combinations she’s heard to express her wants and needs. Hope is starting to spontaneously comment on things which is so huge! I’m so proud of her. Learning to talk has been hard.

Hopie has some great news!!! It looks like she might have had a virus and as a result she was pretty dehydrated. We don’t have a definite answer but I’ll take it.

This is the most awake she’s been all day. I’m hoping that means Hope’s starting to feel a little better. I’m also hoping this doesn’t mean we’re gonna party all night. 😬 Still no answers. I’m hoping we see the doctor early in the morning and get to go home for big sister’s birthday.

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