Jessa’s Journey: MHS Deficiency Disease

24/07/2025

Ready to start the new school year🥰 Tabetha Choate Lambertson

17/02/2025

Jessa has had a pretty tough week. She ended up needing to go get an IV earlier in the week and that helped some but she’s been struggling on and off for a while now. Please keep her in your prayers. She did have a couple of good days too though! Here are some pictures from Friday when she got to go to the Father Daughter dance with her dad and her sister. She had a great time! Didn’t feel so great on Saturday but had a great day today for the most part. Hoping we are over the hurdle now. Just thought I’d share an update because it’s been a little bit. Most of the time she is doing great! But unfortunately sometimes when we do things that kind of upset her “normal” like the weekend trip we took last weekend to see some family it can trigger a metabolic crisis so we always try to be careful with her yet still allow her to have her normal life. I wish there were a cure for this disease. But I have hope that one day there will be. This is why we share so openly about her. Not a lot is known with rare diseases like this and you’d be surprised at how even the littlest things you document can make a difference in learning more about how to help her and others like her. Sharing, talking about it, researching, those things all help more than you know. And most of all your prayers help. Our God is bigger than the medical system and I know He loves her even more than I do and that’s the biggest comfort we have. Thank you all for caring about Jessa❤️

21/01/2025

I hope you never…

I hope you never have to sit in a hospital and hear a diagnosis for your child.

I hope you never have to hold them down for regular exams and bloodwork,

or watch them be carried off into surgery by a stranger.

I hope you never have to fight for their right to exist,

And live in fear that they won’t.

I hope you never have to beg your child to breathe,

or even imagine what that’s like.

I hope you never know the pain of watching your child’s pain,

the exhaustion of watching their fight,

or the strength that is needed when they are weak.

I hope you never…

but if you do,

I hope you know you that you can,

and that you are capable.

I hope you never have to…

but if you do,

I hope you know that you are not alone.

Written by: Carla Moore from Payton's Path, please go follow that page and show support to Payton❤️

04/09/2024

https://pubmed.ncbi.nlm.nih.gov/39143735/

I was doing some more research about Jessa because of some weird stomach pain she’s having today and I came across this! This article is literally about her. Like she’s the patient they’re talking about. It was written by her two Genetics doctors and her Endocrinologist at Stanford. (Dr. Nihaus, Dr. Lee, and Dr. Cooper)

Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented with a cyclic vomiting phenotype. HMG-CoA synthase deficiency is a rare disorder affecting ketone body synthesis in which affected individuals typically present at a young age with hypoketotic hypogly...

21/06/2024

Jessa turned 10 on Wednesday! She had a great day celebrating. First birthday in a while with no issues from her body and we sure celebrated the heck out of that! Can’t believe our girl is DOUBLE DIGETS now!

23/05/2024

We saw Endocrinology today at Stanford Childrens. Jessa is doing well! Her sugars seem to be mostly the same, lows mainly happening during the night in the early morning hours so we might need to adjust her bedtime snacks and wake her even earlier for breakfast. The doctor said she’s starting to see some of the earlier signs of puberty (😳😭my baby is growing up) and that with that we might see more variations in her sugars so to keep watching them. We are upgrading to the libre 3 CGM finally and we are all really excited about that! She’s right on target for her growth and not a huge change in her glucose readings since our last visit 6 months ago so she said just to follow up in another 6 months and also do our follow-ups with Genetics as needed. She’s due for another visit with that team so we will update after that one too. But I love these appointments where we just check in and there’s not much to report and we can just keep managing her symptoms and avoid a lot of hospital visits. We are certain that her CGM has saved us a lot of hospital trips by helping us to catch and treat her lows early on. What a blessing!

18/04/2024