Praying for Andrew

03/12/2019

Update: well, 1 of my genetic tests came back this past week. It was definitely a mix of emotions for me as I saw the results. I have a mutation of the SPTLC1 gene located on the chromosome 9q22.31. I know that sounds like gibberish, but this may be the start of some answers we have been searching for for Nathaniel, Andrew, and I. Please continue to pray for guidance for the medical staff as they interpret and study these results and the other tests results that should be completed soon and decide what needs to happen next for the 3 of us.

02/18/2019

It has been quite some time since we have posted any updates on Andrew. Sometimes it's hard to keep up with all of the medical "stuff." Overall, Andrew has been doing better now that we live in a cooler climate. Currently, though, he is battling some sort of respiratory illness.
What we have been dealing with recently is the possibility that Nathaniel and I (Jessica), have a mitochondrial dysfunction as well. Nathaniel and I have been presenting with multi system problems. Fortunately, all 3 of us have the same Dr overseeing our care and treatment. About 3 weeks ago, I had blood drawn and a mouth swab done to submit for further genetic testing. In fact, one of the tests is brand new. We are hoping for some guidance from these results.
We are also encouraged from a mito conference we attended this past weekend. There is a Dr in California who will reevaluate many of the genetic test results we have obtained over the years. With the advancement of technology, there are new ways of evaluating these results and hopefully finding other alternatives for treatment for all 3 of us.
It has been a long and difficult road that we continue to travel, but are encouraged and hopeful for new answers. We appreciate all of your prayers over the years. I will do a better job of updating you as we continue this journey.
With love, Jessica

03/07/2018

02/07/2018

So honored our rider is wearing our hat

02/07/2018

I don't have many photos from the boys on Tuesday, but they both did fantastic

02/07/2018

Andrew looks forward to every Tuesday and horse therapy at Dueker Ranch.

11/18/2017

Tomorrow from noon to 5:00pm at the Diane MacDaniels Park in Star Valley, the Gila County Mounted Posse will be hosting a fundraiser for the Dueker Ranch Therapeutic Horse Center a 501c3 organization. There will be FREE hot dogs, hamburgers and silent auctions. Hope to see everyone there!

09/21/2016

We appreciate all of the support from the Pine-Strawberry Fire Dept. Mitochondrial Disease Awareness Week Day 3.

09/22/2014

Please keep Nathaniel (Andrew's older brother) and his surgeon in your thoughts and prayers at 11:30 am (AZ time) this morning. He will have his fundo and g-tube surgery at that time. He will be off feedings / eating for a few days while the surgeries heal. They will then start using his g-tube slowly working up from clear liquids to the nutren jr.
Thank you so much for your encouragement, prayers and support recently. Please know that we read every one of your comments and greatly appreciate them.
PS - I can't remember if we mentioned it, but thankfully Andrew seems to be doing better.
Love,
Paul and Jessica

07/18/2014

Nathaniel Update (Andrew's older brother) - Thankfully Nathaniel's prescription was approved the first time! Praise God! He will start using it today and hopefully get back to living a somewhat normal life. We are very thankful for having insurance...looks like the retail price would be about $1200!

A number of people have been asking questions about narcolepsy. Not too many are familiar with it...myself included. I've always thought is just meant someone sleeps a lot but didn't know much more than that. It seems that Nathaniel has a pretty severe form of narcolepsy. Here is a link to an excellent summary about childhood narcolepsy for those that are interested in learning more.

http://www.chop.edu/service/sleep-center/about-sleep-disorders/narcolepsy.html

In Nathaniel's situation, he has been experiencing very deep sleeps (and quickly) which makes it very difficult to wake him up. He seems to get into the REM sleep cycle within 8-10 minutes and does not come out of it easily. In most people it takes you 60-90 minutes to get into the REM cycle and you go in/out of it throughout the night. Nathaniel stays in the REM cycle the entire time he is sleeping. He has intense dreams during his sleep, but can't remember anything about them afterwards. As you can imagine this has been very scary for him, since when he wakes up he ends up very confused and disoriented. Many times he will wake up and feel paralyzed where he can't talk or move until someone either touches him or it eventually goes away after a little bit. This is called sleep paralysis.

He has moments where he gets overly excited and somewhat collapses. He usually has enough time to catch himself, but it is similar to the feeling you have when your legs are tired and they just can't hold you up any longer. This is called Cataplexy or a sudden loss of muscle movement/control.

He has also been doing weird things like getting up to go to the bathroom but not remembering it. Sitting up and talking then going right back to sleep and not remembering anything about it. We have all done similar things like this on occasion, but his are tied to narcolepsy. This is called "Automatic Behavior" or performing a task without having conscious control over what you are doing. Sort of like when you drive to work and don't remember how you got there. :-) The problem for Nathaniel is that he can easily go through daily activities, but due to his narcolepsy won't be "present" in the moment (so to speak). Hopefully his medication and adjustments to his sleep cycle will help fix this issue.

There isn't a cure for narcolepsy, but thankfully it is possible to control most of the symptoms with medication and lifestyle adjustments. It's going to be a lifetime adjustment for him and our family. I don't want to get into the details of what that means right now, but we trust God that he will pull us all through this next adventure.

Thank you for your continued prayers and support. We are very fortunate to have you in our lives.

Love,
The Madonias

Sleep Center