https://gofund.me/ec844d77, https://www.caringbridge.org/site/8183419c-a51a-11f0-bb11-4f413c8b0edf?utm_source=website_sh

John's Journey, Kansas City, MO (2026)

01/29/2026

Our sweet happy boy tonight 🥰

01/27/2026

The first day we accessed John and started his SubQ IG infusion by ourselves! 🥳

❄️❄️❄️

VPRIV infusion this morning!

❄️❄️❄️

$2 Tuesday!!

✨️ Because we've had some people message and ask about mail for our children, they absolutely love mail! 🫶🏻
Our mailing address is:

Po Box 13057
Edwardsville, KS 66113

✨️ PayPal:

✨️ Venmo: Johns_Journey

✨️ CashApp: $JohnsGaucherJourney

✨️ Https://gofund.me/ec844d77

01/27/2026

We had to reschedule John's cardiology appointment, now going next week. We had to take John to Children's to have Interventional Radiology place a new G/J tube back in. All went well!

01/26/2026

John's G/J tube was pulled out this evening. Definitely not something on our bingo cards for tonight! Unfortunately, unlike the G tube, I cannot replace the G/J by myself at home. All we could do for tonight is a pop a G button in its place, and we'll have to call Interventional Radiology tomorrow to try to get on their schedule.

Thankful that we at least have a temporary option so that John can still get fed in the meantime.

01/20/2026

PT first thing this morning and then VPRIV infusion right after! 💪🏻

We are trying to have some of the hours that our state pays me to care for John, moved to John's infusion nurse. This will require our nurse getting hired on at one of the insurance-approved agencies. We have already started that process. You can pray that this process goes quickly!

I have been using all of our hours up until now strictly because it made financial sense for us. And that has not changed. But we are to the point where I'm desperate for a little help from trained hands. We live in a city where we have no family close by to help. And while we are not planning to live here forever, John is just not stable enough to move back where our family is, and to start over with new doctors and a new children's hospital. We are hoping he will be in the next few years, but that's just not yet. So I need help. I am hoping for our nurse to take between 8 and 10 hours a week, split over 2 days. This extra time will allow me to see my doctor, homeschool our older son without interruption, or even just shower without having to rush through, frozen with fear over every alarm. She could also go with me and the children to appointments at Children's, and this will mean that Philip would not have to take off those days from his job.

I am really thankful that this waiver exists for kids like John so that families like ours can get some much-needed help.

✨️✨️✨️

Happy Tuesday, friends!

Welcome to this week's $2 Tuesday!

✨️✨️✨️

$2 Tuesday is to raise funds for needs not covered by insurance. Most of the time, that means travel expenses and specialty appointment fees out of state every 3 to 6 months. Sometimes that means trying to cover Philip's lost work when he has to take us to John's appointments. (We are required to have two adults who are trained on John to drive anywhere with him. This is because of very severe breathing problems that John has experienced while in the car.) Sometimes that also means when we both lose pay during one of John's frequent hospitalizations.

Right now we are working on paying off our credit from the last trip out to Virginia for specialties. We had to cut the last trip short and not see John's epileptologist in NYC, partially because finances were not stretching that far. However when we go back east in April, we can't push that appointment out again. Our state does not pay me very much to care for John full time, and Philip is unfortunately not able to work more than usually 3 to 4 days per week due to John's appointments, and sometimes less. We can't do this alone. 🫶🏻

✨️ Because we've had some people message and ask about mail for our children, they absolutely love mail! 🫶🏻
Our mailing address is:

Po Box 13057
Edwardsville, KS 66113

✨️ PayPal:

✨️ Venmo: Johns_Journey

✨️ CashApp: $JohnsGaucherJourney

✨️ Https://gofund.me/ec844d77

🦓🧬
💙
🙏
💪🏻
🦓❤️

01/19/2026

John started his new seizure med, Onfi, a couple of days ago, and we are already seeing a decrease in seizures. It will take 4 weeks to work up to John's full dose, so we hope that by the time we are there, John will be completely seizure free.

Please pray for John tonight. He seemed to be in a lot of pain quite suddenly, so we gave him a very small dose of the morphine we have on hand for these times. It did help him to calm down and sleep.

Our doctors disagree amongst themselves about the source of John's pain. A couple of them say that Gaucher should not come with pain and that if John is experiencing pain, we need to find the cause of it. Most of our doctors believe that neuronopathic Gaucher disease does come with pain in the nervous system and in the bones.

I am always searching for a cause of pain when John is experiencing it, but I am always in favor of medicating pain that is more severe. Whether it is disease pain or not, John doesn't deserve to experience such intense pain.

If this round of pain has a treatable cause, please pray that we would find it. In the meantime, we are thankful John is sleeping well tonight.

01/15/2026

As you all know, John received his first Cuvitru IG infusion yesterday. He did experience drowsiness, which is a very common side effect. It hit John a little hard, and he slept for 9 hours after his infusion yesterday morning. We weren't very concerned because we knew it was a potential side effect, and John is monitored 24/7, so we knew that his heart rate and oxygen saturations were doing great. However since this was John's first dose, we were required to report any side effects, so we called John's assigned Cuvitru pharmacist, his pediatrician, and his Immunologist.

And John is feeling wonderful today! This Cuvitru is exactly the boost that his system needed. John is seeming happier and more interactive than he's been in at least a few months! Praying praying praying that this IG continues to be so much benefit to him, and will help keep us out of the hospital.

Today has been busy with lots of messaging with our various specialties, including a telehealth with John's geneticist in DC!

It can be difficult to get all of John's many specialties to communicate with each other well, and that mean it can sometimes be very difficult to get everyone on the same page and make a plan for John.

What we have decided so far: John will continue the high dose methylprednisone infusions for 2 more months (so just 2 more doses), and we will re-assess after the second dose. This is to help treat the ILD (Interstitial Lung Disease). This treatment is not a long-term option. Right now we are looking to get the ILD under control, and then we will discuss maintenance options like colchicine.

John's pulmonary status is by far the most pressing and concerning problem that we're dealing with, and that's been the case since John was just 5 months old and started having those severe central apneic episodes that led to coding on several occasions. Pulmonary is the area where we most covet prayer.

During this last short admission for the extended Video EEG, IR (interventional radiology) was able to squeeze John into their schedule to finally get his G-tube converted to a G/J tube. This was a very quick, no anesthesia procedure. From the time they took John out of his hospital room, to the time that they brought him back to me smiling, was all of 15 minutes. John has been doing great on his J feeds since being home, and now he is eligible to move from a nasal BiPAP mask to a full face BiPAP mask!! I am talking with our pulmonologist and trying to make a plan, but I am anticipating that Pulm will want to admit us for a couple of days, probably to the PICU, to initiate the new mask and make sure that John's CO2 levels remain stable. We are very excited about finally getting to this point, as John's specialist in DC believes that a full face BiPAP will solve many of these pulmonary problems that we have been facing. If Pulm does want to admit us for this, I will probably be asking that we wait a couple of weeks, until respiratory season dies down a little, and the hospital is a little less full.

01/15/2026

Two new U.S. Food and Drug Administration (FDA) approvals have been granted based on real world evidence for the first time ever.

The FDA has approved Cerezyme (imiglucerase) for Gaucher disease type 3 for symptoms that do not affect the central nervous system (CNS) and has also extended Cerezyme's indication to patients of all ages with non-CNS manifestations of both Gaucher types 1 and 3.

This recent approval has removed all age restrictions on the label, meaning patients as early as birth for both Gaucher types 1 and 3 can be administered an on-label FDA approved treatment for Gaucher.

Many thanks to all of you who participate in Gaucher research and help bring new treatments and solutions to our care. You can read more information on this exciting news here: https://www.healio.com/advertorial/2025/adv170_sanofi

01/14/2026

First week of home Cuvitru ImmuneGlobulin (IG) infusions!

These infusions are subcutaneous and will be administered biweekly!

A nurse came to our home today to teach us, and the plan currently is for her to be here for the next infusion as well, to watch me administer, and to answer further questions I may have.

And then Philip and I will choose the best day for us to administer John's IG biweekly ourselves after that!

We are so, so thankful for this medication. We fought insurance for this for 8 months before they approved.

Please be praying that this medication works as well as John's immunologist believes it will! This is supposed to prevent illnesses and hospitalizations SIGNIFICANTLY. We pray it does!!

01/14/2026

When Philip and I became parents, we never envisioned having the conversations that we have had to have since our sweet John was born.

We are constantly being asked to consider whether we want to prioritize quantity of life, or quality of life. It is impossible to look at our baby and make such decisions.

This most recent admission, and devastating private family matters going on at the same time, put some things in perspective for me. We are almost daily required to make decisions for John that will directly affect his life. Some of these decisions have been sickening and unbearable. We live with fear, guilt, regret, and the constant wondering if we are doing enough for John, if there is something else that we and his doctors haven't thought of.

We continue to pray for a miracle, for our sweet John to live a long, happy, healthy life. But if the Lord chooses not to heal him in this life, the reality is that our very difficult lives will become progressively more difficult as this disease progresses.

Something that started to hit deeply this weekend was how fast time passes, and you don't get time back. This weekend we experienced something in our private life that made us realize that sometimes, you have to put up boundaries and just walk away to protect yourself and more importantly protect your children.
It is especially hard when it is family who don't spend the time to know our children and celebrate who they are: absolutely incredible, loving boys!
Or the inability of some to put aside differences and work through problems honestly, in order to have a relationship with our children.
We fear there might be a time, someday in the future, that some of these people will live with guilt and regret for not knowing our children, for not knowing John.

One thing that I know John knows, is how much his mama, daddy, and big brother love him. He knows how treasured he is in our family. He knows that he is perfect as he is, and we would choose him over and over and over again.

We want to acknowledge you all, this community that the Lord has given us. So many of you have spent hours praying for the Lord to spare John, praying for strength for us as we care for him, praying for the decisions that we have to make every day. You all have watched our children grow for almost two years, and helped us celebrate every single milestone, every single challenge that our John has overcome. Not only have you supported us financially, but also with daily encouragement and emotionally as well.

John will turn 2 years old in about 7 weeks. We are praying he gets many more years with us. As we step into this new year filled with new challenges along with the joys and celebrations, we want you all to know how much we love and appreciate you.

01/14/2026

Infusion Day! 💪🏻

✨️✨️✨️

Happy Tuesday, friends!

Welcome to this week's $2 Tuesday!

Let's do this!

✨️ Because we've had some people message and ask about mail for our children, they absolutely love mail! 🫶🏻
Our mailing address is:

Po Box 13057
Edwardsville, KS 66113

☃️❄️✨️ PayPal:

☃️❄️✨️ Venmo: Johns_Journey

☃️❄️✨️ CashApp: $JohnsGaucherJourney

☃️❄️✨️ Https://gofund.me/ec844d77

🦓🧬
💙
🙏
💪🏻
🦓❤️

01/13/2026

Hello all.

John was discharged late this afternoon and we are now home.

The EEG was clear of seizure activity over the course of 24 hours. However we know that John is having seizures. We can see them, as well as neurology, palliative, and some of our nurses.

The plan is to continue Keppra at the current dosing, and add in Onfi while weaning clonazepam. The clonazepam at a high dose was treating the seizures, but at the cost of snowing John and keeping him sedated.

We are constantly having to delicately balance treating John's conditions effectively, with quality of life.

For now, John is home, and we have a plan moving forward.

John's Journey

01/29/2026

01/27/2026

01/27/2026

01/26/2026

01/20/2026

01/19/2026

01/15/2026

01/15/2026

01/14/2026

01/14/2026

01/14/2026

01/13/2026

Address

Website

Alerts

Contact The Practice

Shortcuts

Share

Category