NIH Trip

Very delayed update about the NIH! It was a wonderful trip at the end of April. We didn't really know what to expect and who all we would be meeting, so we were pleasantly surprised!

Tuesday April 17th:

Flight to DC! Flying with Ava this time around was not any easier than the first time back in December... She needs to move and see and touch everything on a plane. Elijah of course was great! Once we landed, we headed to our rental car and went straight to the NIH campus, where the testing and housing was located. We checked in at the Children's Inn where families stay. The place was AMAZING! It had play rooms (plural), outdoor playground, game rooms, kitchens, exercise room, etc. Ava frequented the play rooms often to get out some energy. Once we put our stuff in our room, we headed right to the clinical center to get checked in so we wouldn't have to do that in the morning. Once we got our wrist bands, we headed back to the Children's Inn where dinner was being served. During the week, the Children's Inn has volunteers come in and cook dinner for the families. Tonight's theme: Greece! After dinner we all turned in for an early bed time after a long day of travel.

Wednesday April 18th:
We got to the clinic bright and early, and started with vitals. After that we began to meet some of the doctors who would be researching Eli. They did a physical exam and listened to me talk for about an hour to learn all about Eli. They knew his paperwork inside and out, but still wanted to just learn as much as possible about him. They were very sweet, informative, and knowledgable! After this he had a series of testing - most of which he has already had done before. He did a muscle ultrasound, GI ultrasound, drew blood, EKG, and then a skin biopsy. Skin biopsy was a new one for him and made me a little nervous, but ultimately sounds like it will be really good for learning about him. They will grow his skin cells and try to learn more about him at the cellular level. If our doctors in Chicago (or if we ever go to Mayo Clinic) need more information about his cells, the NIH can provide cell samples and information. The lead doctor on Eli's case specializes in neuromuscular diseases and neuro-genetics... Both great things for Eli! After the first day of testing, we enjoyed a family run and some time at the park. Another dinner was provided, and it was time for bed again!

Thursday April 19th:

Not as early of a morning and not as busy of a day... Eli only had some skeletal x-rays, an (interesting) eye exam, and an echocardiogram. All of his testing was done at the NIH Clinic Center, which was a 5 minute walk from the Children's Inn. It made it easy for Eric and I to tag team and bring Ava back for naps! Eli did amazing with all of his testing... Usually had a smile on his face, and the echocardiogram even had him cracking up! The eye exam was interesting because he was very tired and started to get cranky... the kid can't see much anyways, so add those elements together with a flustered doctor = interesting. He didn't really cooperate for anything she was trying to do (but most of it was too advanced for him anyways), so we went home for a nap :) Thursday night there was another family dinner - France themed.

Friday April 20th:
We were free to fly back on this day, but we figured if we were flying all the way here... We better take the kids to do some touristy things! So we headed in to DC for the day. We walked "the mall" and saw the White House, Washington Monument, WWII Memorial, and Lincoln Memorial. We ended the day with Georgetown Cupcakes!

Our results from all the testing showed us nothing new... however, it will be helpful to continue consulting with the team of doctors when needed in the future. From conversations with them, they are not diagnosing Eli with anything new. They believe his diagnosis of Limb Girdle Type 2S is accurate, and they are continuing to learn more about his specific gene mutation. Unfortunately they believe his type of MD behaves more like a mitochondrial disorder. Which explains all of the struggles we have been having in the past year that do not relate to a Limb Girdle MD. His brain atrophy, his breathing struggles, loss of vision, his digestive issues, the length of time it takes him to recover from illness, etc. - all of these are much more characteristic of a mitochondrial disorder.

Moving forward, this team of doctors is here for us whenever needed. They can fly us back to DC, do testing at Lutheran General, or just consult with us when we have new symptoms or aren't sure what to do. It was really encouraging to hear over and over again that they are very impressed with what our team of doctors has already done for him (especially with such a rare disease). They were very happy with all the breathing treatments he does every day, the amount of therapies he is getting, and the machines he already has. They said it is very typical that patients first come to the NIH with none of these things in place.


Praises from this trip:

• amazing new team of doctors to get to know Eli and provide us information to best care for him
• learning little pieces of information that explain his puzzle a little better
• hearing that we are doing everything we basically can be doing for him already!!!
• successful trip flying there and back with our 2 crazy kids
• a little time away as a family

Prayers from this trip:

• beginning to understand more of what his diagnosis will mean and coping with what he may continue to struggle with

Jeremiah 17:14 "Heal me, O Lord, and I shall be healed. Save me, and I shall be saved, for you are my praise." 

1 Chronicles 16: 23-31 "Sing to the Lord, all the earth! Tell of his salvation from day to day. Declare his glory among the nations his marvelous works among all the peoples! For great is the Lord, and greatly to be praised and he is to be feared above all gods. For all the gods of the peoples are worthless idols, but the Lord made the heavens. Splendor and majesty are before him; strength and joy are in his place. Ascribe to the Lord, O families of the peoples, ascribe to the Lord glory and strength! Ascribe to the Lord the glory due his name; bring an offering and come before him! Worship the Lord in the splendor of holiness; tremble before him, all the earth yes, the world is established; it shall never be moved. Let the heavens be glad, and let the earth rejoice, and let them say among the nations, “The Lord reigns!”

MRI Results & MD Clinic

We've had a busy 2 months! March 17th our little guy turned 2 years old! Eric and I can't believe we've only been parents for 2 years... It feels like we've been at this for much, much longer. We celebrated our little superhero in the best way we knew how - to throw him a superhero birthday party with family!

Just a week later, I was on Spring Break from school, so I got to spend lots of time with my babies! We took a quick trip to MN to visit Nate & Meg, tried to spend lots of time outside (bundled up - where's Spring?!), and relax a little :)

At the end of my Spring Break, Eli had his 4th brain MRI. It was an early morning, but a pretty quick procedure. He did MUCH better waking up from anesthesia this time. We waited in recovery for about an hour (like normal) for him to wake up, make sure his breathing was OK, and that he tolerated his feed... In the past, he is still pretty cranky for a while, but this time, as soon as I started rolling him out of the hospital he was cooing! Back to his normal self as soon as we got home.

Put your feet up and relax bro!

The next week, we had Eli's MDA Clinic that is run by his neurologist - who specializes in neuro-muscular diseases. His neurologist filled us in on his MRI results, which showed that his brain has stayed the same since September 2017. Good news/ bad news. It is great that his brain has not continued to shrink, but we would obviously like to see some growth. However, these results make sense to us because we haven't seen any significant developmental changes (good or bad) in Eli. From this clinic we were also given some follow-up tests to check up on Eli... 1) We will be doing a swallow study to check the functionality of his swallow. He passed a swallow study on 2/14/17 and he was doing some purees by mouth last Spring; however, a lot has changed since then. He has not had any food by mouth since May 2017, he often seems to forget to swallow, and he sometimes chokes/ coughs on his silva/ mucus. So an updated swallow study will be helpful to see how he is managing all of this. 2) We will also be doing Eli's first ever sleep study. This is something our pulmonologist warned us we would eventually have to do, but said we would probably want to wait as long as possible... Essentially in case the results show us that there is some scary or worrisome breathing while Eli sleeps. He has been doing lots of gasping in his sleep at night, so we just want to make sure he is taking in enough oxygen all night long.

The weekend of 4/7 & 4/8, Eric was out of town for a wedding and Eli had some vomiting, but seemed still happy. We occasionally have vomiting as we are changing and increasing his diet. However on 4/9 after falling asleep, he woke up vomiting and couldn't stop for about 45 minutes and it ended with him having a short seizure. Luckily we didn't end up in the ER and Eli was able to fight the quick stomach bug at home for the week... but we were left with an exhausted little guy and are still trying to work back to his normal feeds (and get back to trying to increase his calories).

We recently got back from our trip to the National Institutes of Health (NIH)... I will try to get another blog update up soon about this trip! We learned a little and made some great connections with doctors.

Praises:
~Brain not shrinking more!
~Trip to NIH
~Great medical team working with Eli

Prayers:
~Favorable swallow study and sleep study results
~Receiving an answer from our insurance about Mayo Clinic - we are still waiting to hear if they will approve us to go there for a second opinion
~Putting some weight on Eli... He has not gained weight in a year, but he has recently started getting a little longer. We want to continue to make sure his nutrition is enough to help him continue to grow and hopefully develop more.

"O Lord, our Lord, how majestic is your name in all the earth! You have set your glory above the heavens. Out of the mouth of babies and infants, you have established strength because of your foes, to still the enemy and the avenger. When I look at your heavens, the work of your fingers, the moon and the stars, which you have set in place, what is man that you are mindful of him, and the son of man that you care for him? Yet you have made him a little lower than the heavenly beings and crowned him with glory and honor. You have given him dominion over the works of your hands; you have put all things under his feet, all sheep and oxen, and also the beasts of the field, the birds of the heavens, and the fish of the sea, whatever passes along the paths of the seas. O Lord, our Lord, how majestic is your name in all the earth!" Psalms 8

Story time at the library

Easter 2018

 MDA Green Day - March 16, 2018

Slow Winter = Busy Spring!

This past Winter has been a slow one for our family, which has been enjoyable! It has been such a huge praise that we have survived this crazy flu season with no trips to the hospital. Eli has recently gotten his first bad cold, which has led to about 3 weeks of coughing and vomiting... but we are finally at the end of that! Yet, even in the slowness, we have been busy doing lots of planning for a busy Spring! Some quick updates and exciting news!

Rhodes School

Insureon

February 28, 2018 was Rare Disease Day! This has become a fun holiday in the Peterman household. This year it was extremely fun to have people celebrating it near and far! I celebrated at my school with another coworker whose daughter has Spina Bifida. Auntie Callie decorated her office and BAKED 100 cookies to share with coworkers and bring awareness! And of course our besties shared some love and support in their Team Eli tees - so cute!!!

Eli in the past 3 weeks has been trialing real food and juices through his g-tube! This has been a goal since last year, but with the instability Eli had in 2017 with reflux and vomiting, food got put on hold. There are food pouches that are made for g-tubes, so after trialing individual foods, he has now been taking small amounts of Real Food Blends that is chicken, rice, orange juice, and carrots! The goal is to get him off of formula eventually, but this will be a slow process. The idea is to get him on a more natural diet for a 2 year old, which could ultimately help with his digestive issues.

Eli attended his first vision-impaired music class and loved it! This was through his vision therapist's organization.

We have some big things coming up for Eli and would appreciate some prayers! First, we will be doing another brain MRI at the end of March. This will be to follow up on his past two and see the size of his brain. Has it continued to shrink, stayed the same, or God-willing even grown?! Second, on 4/4 we will be going back to his Muscular Dystrophy clinic! We have not gone since February 2017, so it will be good to check in with all the clinic doctors again. At the clinic we will meet with his neurologist who will be able to go over all of his brain MRIs in detail. Third, we got a call from the National Institute of Health (NIH) last week!!! After finding out about his brain atrophy in October 2017, our genetic doctors told us about this opportunity and asked if they could send in his paperwork. Essentially they will do research on Eli to find out more about his rare diagnosis, and for us it will be a free second opinion on him. We will be going April 17-20! The whole Peterman crew will be heading to Bethesda, Maryland to meet with Dr. Carsten Bonnemann and Dr. Reghan Foley and run some tests on Eli (most of which he has already done before). Fourth, we have officially sent in paperwork to our insurance to try to get our one and only 2nd opinion at Mayo Clinic in Minnesota. This is a reach as our insurance would probably like us to go somewhere more local like Lurie Children's Hospital in Chicago, but we are shooting for Mayo due to their multidisciplinary team approach. It will be SO helpful to have multiple specialists all working together to find the best plan and treatments for Eli. Prayers appreciated that this application gets approved!

Some more amazing opportunities in the works... nursing support and aquatherapy! Eli has been approved for aquatherapy with our insurance, however, our location has a waitlist. Praying it won't be long! We know Eli will LOVE this therapy. Also, our amazing hospital outpatient care coordinator referred us to a program through the Division of Specialized Care for Children (DSCC). This is the only program so far that we have had a chance to get some nursing help through - most other programs we can't qualify for due to our income and insurance. However, this DSCC program is based on points... And Eli definitely qualifies with his diagnosis, medications, and breathing & digestive issues. So we are in the waiting process of hearing back on our application and finding out how much nursing support we will qualify for! Very exciting news, as we would love to eventually have a night nurse to be able to watch him closer at night.

Praises:
~ Both babies are sleeping better at night!
~ Eli started real food and more natural things for his digestive system.
~ Got invited to come to the NIH!
~ DSCC program!

Prayers:
~ Brain MRI - for growth!
~ Mayo Clinic application to get approved!
~ Real Food Blends to continue going well for Eli and beginning to transition to more RFBs and less formula soon.
~ Acquatherpy and nursing to begin soon!
~ Eli's continued overall growth and development. He has recently grown 1/2" in length!


Colossians 2:6-7 "Therefore, as you received Christ Jesus the Lord, so walk in him, rooted and built up in him and established in the faith, just as you were taught, abounding in thanksgiving."

heading to the park!

LOVED his first time sledding!

their favorite time of day

Valentine's Day <3