Our son John was born in March of 2024. He had a 19 day NICU stay due to contracting bacterial pneumonia. Once home, he thrived for just over 3 months, meeting all of his milestones ahead of time.

About that time, around 3 and a half months of age, we started to notice that things weren't right. John had always been stiff, but it wasn't improving as the NICU neonatologists and our pediatrician thought it would. He had also had a cough from birth which we were told would improve. It hadn't. And then he slowly started having trouble sucking and swallowing to feed from his bottle.

Then one night I put him to bed, and he slept for 16 hours. When I did get him to wake, he was able to drink 3 oz of milk total in the next 24 hours. We sought medical advice and tried different formula, different bottles, different sizes. We tried feeding in different positions, increasing the number of feeds in a day, feeding him at different times and working hard to keep him awake. But he continued to lose weight. He just couldn't eat. John lost 4 and a half pounds in just 3 weeks.

I took him into his 4 month pediatrician appointment, and our doctor was very concerned. John was fitting back into newborn clothes, he had not gained any length at all in 2 months, and he was even stiffer than before. Our pediatrician strongly recommended admitting John to the PICU.

The PICU attending believed John was a healthy baby who was just having feeding issues, but we drew labs for screening anyways. One of those lab results led to a consult with GI, which led to consults with PT, OT, and Speech. We consulted with Cardiology as well. It had become apparent that something was wrong, but we couldn't figure it out. We did ultrasounds, CT scans, and even a sedated MRI, but did not get answers.

Neurology finally came by for a consult, and they diagnosed Hyperekplexia. It fit John's symptoms, and was a very good guess. There is no test for it, but hyperekplexia responds to medication very well. That is the test. John was immediately started on clonazepam, and improved overnight, a day and night difference. That was confirmation enough for neurology, so we accepted this diagnosis. However, the medication wasn't going to work quickly enough to allow John to feed by bottle immediately, so we had an NG tube placed. Genetics also came by to speak with us. They told us that hyperekplexia seemed to be a correct diagnosis, and they didn't believe they would find anything on genetic testing, but that they'd like to cover all the bases just in case. We agreed, and drew labs. That was a 14 day PICU stay.

A couple of weeks later, I took John back into the PICU for observation. He was exhibiting sleep apnea symptoms, and his breathing was very concerning to us. The PICU attending ran a viral panel, which came back positive for rhino virus. He sent us back home after 2 days, saying he wasn't too concerned about the apnic episodes yet, and John was handling the rhino virus pretty well, so he didn't need to stay in the hospital. I was hesitant to leave. Something didn't feel right. But we brought John back home anyways.

We weren't even home for a week before we had to go back into the hospital for an NG tube issue. While there, John's oxygen sats dropped, and they rushed him back for oxygen. He tested positive for another virus, and was admitted back upstairs to the PICU again. While there, Genetics came with our results. Hyperekplexia was an incorrect diagnosis.

John actually has Type 2 Gaucher's Disease.

We were given a prognosis of 2 to 4 years, with treatment. Less without.

But we did not accept. John's life is precious, and worth fighting for.

An incredible Gaucher mom gave me the information for a doctor across the country in Virginia who is willing to treat babies with Gaucher's. Many doctors aren't even willing to try. As soon as we were discharged from the hospital, we made the drive to Virginia to meet this doctor and start enzyme replacement therapy for John. We stayed in Virginia for almost 5 weeks, while John received 4 enzyme infusions.

We are back home in KC, but have to go back to Virginia every 3 months to see John's doctor there. Insurance has approved weekly home infusions between visits to VA. Praise the Lord.

We are raising funds to help with the cost of these trips to Virginia, and to be able to pay our bills while gone, as my husband will lose a week and a half of work each trip. John is also on 2 medications that insurance does not cover, so we have to pay for those out of pocket for those. In addition, John has 10 specialists besides his regular pediatrician, all of whom he has to see regularly, which is a lot of gas money. We are expecting another hospital stay soon when John has his surgery to place a G-tube and a port. That will be expensive as well, as my husband will have to take off work while we are admitted.

We are so grateful for all of the financial help we've received so far that made the initial 5 week trip to VA possible. Thank you all.

We have so much hope for our sweet John's future. Please pray with us that the Lord would see fit to grant complete healing to John.