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."
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