Genetic Test Results

Happy Thanksgiving!

We hope everyone is enjoying some time with family today, and also enjoying some yummy food. 

We just wanted to give a quick update because we received our genetic test results back on Tuesday (very early!). We have finally gotten an answer; however, it doesn't give us too much clarity. Unfortunately, Eli has been diagnosed with a very rare type of muscular dystrophy (limb-girdle muscular dystrophy - type 2S). 

There is very limited research on this mutated gene and type of muscular dystrophy because it is a fairly new discovery. Our best guess for Eli's future right now is muscle weaknesses, developmental delays, limited growth, and possible chronic seizures.

Thank you for all the prayers and support. We are SO thankful for each of you.

"Give thanks in all circumstances; for this is the will of God in Christ Jesus for you." 1 Thessalonians 5:18

Home!

WE'RE HOME! It's been a long, almost 2 weeks in the hospital so it feels really good to be home. We have a long road ahead getting used to life outside the hospital, but we are beginning to see our normal, feisty, energetic, and talkative boy more and more.

We left the hospital still on seizure medication, and still with a feeding tube. Eli has not regained much of his strength back yet and because of that he is still unable to suck/ swallow. We will be doing a lot of outpatient appointments with OT, PT, and Speech until we can hopefully have Early Intervention services in our home. 

Praises!

• We're home! Enough said :)
• Eli is starting to nonstop wiggle and move again.
• Britta's work being so flexible and accommodating to our needs.

Prayers:

• Life with a feeding tube, getting Eli's strength back, and all his outpatient therapies. Also, tolerating his feeds (not vomiting) and upping his ounce intake... Doctors would like to see him eat more ounces per day.
• Finding a nanny since his new circumstances make it too hard to go back to daycare.
• Remaining seizure free.
• And as always, patience and trust as we wait for genetic results.

Thank you so much for all of your thoughts, prayers, kind words, etc. Your encouragement continues to give us hope and faith!

Psalms 46: 1- 3 "God is our refuge and strength, a very present help in trouble. Therefore we will not fear though the earth gives way, though the mountains be moved into the heart of the sea, though its waters roar and foam, though the mountains tremble at its swelling."

Blogging for Updates!

Family, friends, & prayer warriors,

We have had an eventful 3 months with Elijah, so we are starting a blog to help keep all of the updates in one location for loved ones and friends to follow along with our sweet boy and his journey with Muscular Dystrophy.

At Eli's 5 month pediatric appointment, his unique, very small growth curve began to plateau and was not increasing as the doctors had hoped. This led to a few outpatient gastroenterologist appointments and ultimately to be hospitalized at the end of September for further testing. Eli was poked and prodded all over... We left with very few answers and some concerning test results. Because of all this, it led us to get a full genetic testing sequence done to see if there was an underlying answer to all that is going on with Eli.

Since that hospitalization, Eli has been a happy, giggly, and active little boy. He loves to roll and getting better at tummy time. He actually started to sleep a little better as well! However, he has been fighting a cold since he started day care back in September, and on November 1 he started vomiting and got a high fever. He seemed to be getting better, but then seemed very off and out of it on the night of November 3rd. Thankfully we didn't wait it out too long and called our pediatrician, and then ended up in the ER early morning on November 4th after Elijah had been having some mild seizures. 

Since our admittance in to the ER/ PICU at Lutheran General Hospital last Friday (11/4), Eli has had several EEGs, blood tests, and an MRI & MRS. Doctors have several concerns and Eli has many symptoms that are definitely making the doctors lean towards something going on genetically, which the best guesses right now are a metabolic disorder or muscular dystrophy. Eli has not been a textbook case for either of these, but all of his symptoms could be explained by one of these... So we are just waiting to get the genetic test results back to see if one of those comes up. We are not expecting those results until mid to late December.

Currently: we were moved from the PICU to the regular Peds floor last night - praise God! Eli has been on 3 seizure medications, but today we are going to take one off and try to work with the other two. Since entering the hospital last week, Eli has been on tube feedings only, so we should be meeting with a speech therapist to hopefully begin bottle feeding him again soon.

Praises!

• On to the regular Peds floor, one step closer to discharge
• Eli has been more awake and alert the past few days... We are even starting to get some smiles and giggles again
• Taking off one medication and trying to stick with just 2
• No clinical seizures since Sunday afternoon
• Flexible jobs allowing us to be at the hospital with Eli

Prayer requests: 

• Finding a balance of medication that will control his seizures, but doesn't leave Eli so drugged that he is not his normal self
• The knowledge & expertise of doctors to continue to help us figure out what is going on with Elijah
• Patience in this painful waiting time to get genetic testing results back and figure out what the future looks like for Eli
• Strength & reassurance from our almighty Father that, as always, is in control of the situation

Thank you to everyone who have already been praying, and loving & serving us so well. We are so thankful to be a part of an amazing community and even more thankful that we have HOPE in our gracious, merciful, healing, and loving God. God has a plan in all of this, and we are trying to cling to that. And as our pastor shared with us this morning, Deuteronomy 31:6: “Be strong and courageous. Do not fear or be in dread of them, for it is the LORD your God who goes with you. He will not leave you or forsake you."