Johnny

MMA, Mut 0 – Our Trip to the NIH

Our NIH Visit, by John and Lourdes (Johnny, 6 Yrs. Old, MMA mut0)

This is an account of the week we spent at NIH, participating in the clinical study for MMA Research. We encourage all parents of children with MMA to consider taking part in this study. All expenses for this clinical study are covered, including the travel to/from, lodging, food, and all of the testing.

Day 1 – Monday – As we drove into the NIH campus, we were in awe. It was like a small city. After we were cleared at the security check point, we proceeded to the Children’s Inn.

The Children’s Inn – after checking in, we received a tour of the facility. What a place! They have multiple game rooms: pool tables, toddler play rooms, rooms with internet access and computer games, arts and crafts rooms, and TV’s everywhere. They have multiple large kitchen areas, a place to store medical supplies, dry food and refrigerated food, and private rooms with 2 double beds, a TV, and bathroom. They even allow free long distance calls at designated areas outside of your room. The staff is made up of full time employees and some volunteers. Everyone is extremely nice. There is local transportation to all sorts of places – food stores, shops, movies, dinner. Overall, it has the feel of a ski lodge, especially with snow on the ground J

Day 1 – Monday Night – We really just hung out and enjoyed the Inn. Johnny was happy to be there – we prepped him for the visit so he wouldn’t be anxious.

Day 2 – Tuesday Morning – We could walk across the street or hop on the bus and ride across to the Clinical Center. The bus was sitting there waiting, so we accepted a lift over.

The new Clinical Center was complete as of 2004. It is a beautiful place. It has a Starbucks in the seven story lobby and all of the appointments are close by. We heard that what the pentagon is to defense the Clinical Center is to U.S. medicine. Very Impressive! See www.cc.nih.gov for a virtual tour of the center and the Children’s Inn. We checked into admissions and then proceeded to the clinic floor and our room. The hospital rooms are semiprivate. Each bed has a plasma TV on this huge arm that allows kids to position anywhere. The plasma TV is also a computer, with internet and DVD/ video game capabilities. We brought our game cube and portable DVD player, so Johnny was plenty occupied. There’s also a nice playroom on the floor, with a lot of cool toys, books, and PlayStation2+games to play. They have therapy dogs, social workers, counselors, and plenty of friendly parents, children and staff. The Clinical Center is not an acute care, but a research hospital so it was really very quiet with only a few people on the patient floor.

Near the admissions area, there is a larger playroom with a sand table, tons of toys, and even guinea pigs. Since they offer to baby sit, we were able to talk to the doctors without Johnny tugging at us.

After checking in to the clinic floor, and getting acclimatized with our surroundings, we proceeded to the get the IV placed. It takes place on the ultrasound suite, since they offer an ultrasound guided IV. Johnny did well and did not need the ultrasound placement. A little lidocaine and the IV was in. He made all of the nurses cheer “Hip, Hip, Hooray”, three times, because he was very brave and didn’t cry. It was pretty funny.

The rest of the day was pretty light – one blood draw from the IV, some blood pressure checks, and just playtime for Johnny as we were interviewed by the doctors for a complete history. Your child and one parent stays at the clinic for the first night, and the other parent can return to the Inn.

Day 3 – Wednesday Morning – At 5 a.m., they come in and do what’s called a Metabolic Cart – it measures the amount of oxygen intake and the amount of CO2 exhaled. It’s pretty cool. If you are lucky, and we were, the little ones never even wake up. It’s also referred to as a resting energy expenditure test to check the efficiency of his metabolism.

The rest of day 3 is pretty busy, but not crazy. We started with a morning blood draw from the IV, a two hour dental visit and then lunch. After lunch, we had an ultrasound of the abdomen to check his kidneys, pancreas and gall bladder. We snuck in a Hand xray (Optional) to measure bone density, and then pictures of the child and family. We rounded out the after noon with a meeting with the genetic counselors. Johnny was able to play in between visits, watch TV, play some video games, and cruise around in clinic in one of those toddler/child cruiser cars. Johnny and I would ride the elevator to the top floor, and stop in the chapel to say a few prayers for those in need. We took the portable DVD everywhere, just in case. It really helped when getting the abdominal ultrasound.

On Wednesday night, we were all allowed to go back and sleep at the Inn, but it is possible that, depending on the reliability of the test results, your child may need to stay at the clinic for another night. His levels were consistent and his IV became dysfunctional (from being so active) so rather than reinsert a new one, Dr. Venditti let us go provided we continued with the urine collection for round 2 of the creat clearance test. Happy to be back where the action is, Johnny did some crafts and played more games. We ordered delivery from a local restaurant – Bethesda and the Washington area has plenty of good ethnic and American food establishments. We choose a Mediterranean place and really enjoyed it.

Day 4 – Thursday morning – bus ride back across the street to the Inn. We had a quick visit by the genetic fellows and staff – some 13 people came in the room for about 10 minutes, and then off to a meeting with the Developmental specialists. Johnny was great – he told Mom and Dad to wait outside while he tried to answer all of the questions. Afterwards, we had a meeting with the Nutritionists, and then an appointment with Neurology, which was held right in our room. We squeezed in a Dexa scan (optional) and added a visit with rehab and an OT evaluation to the schedule.

Day 5 – Friday morning – We had a long visit with the rehab doc, and received pattybobs (shoe inserts) and pencil grips, and books to help him learn to write from OT. I was surprised they provided a service like this but since families make the effort to come to the center, they explained there is an unspoken “social contract” whereby they spend lots of time with us in return for our bringing Johnny for testing.

The clinic stay concluded in the afternoon with a wrap up session with the whole team. It was very thorough. We reviewed the test results and discussed next steps and a variety of other topics of interest to both parents and doctors.

A bit more about the Children’s Inn
They had really large kitchens, very clean, fully equipped, and brand new. A basket of baked goodies was set out every day for guests, ample refrigerator space and your own locked pantry cabinet. They had other fridge space; one just for meds and another for specimen collections. Next was a neat library with a kid’s section and plenty of recent magazines for us parents, a business center with internet computers and copy machine available all hours, a teen center with a pool table, a kid internet room, and lots of cozy places with TV’s too. There’s a free laundry room, also. Almost like a school art room, their crafts room had lots of art supplies, all free. As through out, the room was always open. I went in to the arts room during wee hours to grab some sparkly ribbon to tie around a dollar from the tooth fairy for Johnny. He lost a tooth that first night! We also had a mail box. We were only there a week, but received little gifts in our box every day from volunteers.

What John and I especially loved about the Inn and the Clinical Center is that everyone is screened before they come to make sure they aren’t sick. They explained to us that bone marrow transplant patients and medically fragile patients stay there so infection control is very important. As Johnny played in the various play areas we felt so much better knowing that.
Since the Inn is across the street, we felt comfortable walking back to the room as one of us stayed with Johnny. We’d go back to shower, reheat our take out for lunch, make calls. Grab something for Johnny. Not anything like a hospital stay far from home (and a hot shower).

The Clinic Visit and some results
We were blessed with incredibly good interviews with genetics, nutrition, and Dr. Venditti. We learned so much as we had the luxury of asking many questions. There was no hurry, and they were all there, all ears, to listen to our concerns. After Dr. Venditti’s explanations though I so wished I had taken biochem in college! Nonetheless, it helped that we sent him Johnny’s previous labs so we could point out values of concern. We learned about things to work on with Johnny so he can succeed in school and gain strength where he is weak. Johnny gets OT/PT but it’s way too light to be effective as it turns out. We also explored why Johnny spills ketones, even though his diet has given him a BMI of 95%. The labs taken during our stay were ready and we received copies of all tests. Really nice to get real time results! With great care, we went through each finding.

For the first time, Dr. Venditti, and neurology, felt Johnny did suffer some neurological damage (at birth?). We will follow up on that finding with an MRI to be done at the NIH next year. His creat clearance was low normal, but needs to be watched over time. We also learned his pancreas and gall bladder were not quite normal, but otherwise ok. We discovered too that a few micronutrients in his diet exceed tolerable limits, yet we were giving him supplements on those. It reminded me that what made sense to do last year, doesn’t apply now so we’ll follow up on that.

Our biggest fear going to the NIH was that we’d discover some not so good news, especially about the kidneys. Or, that we would be stuck in an unpleasant hospital stay which, as you know, carries significant emotional baggage for us. As it turned out, the kidneys looked fine despite his very high levels of MMA. The place was very different to a hospital stay, more like a mini vacation. Johnny did not want to leave. The NIH visit gave us a wonderful in depth and coherent picture of Johnny. This type of assessment of your child doesn’t happen in the traditional doctor visit format. Really, no where else will you get such a meticulous discussion about the “what” but also “why”. In all, we spoke for many hours about Johnny’s results and about the research.
​
It is abundantly clear that Dr. Venditti shares a very special bond with these kids. We enjoyed our last with Dr. Venditti as we posed for pictures and spent time chatting. Johnny is really strong, a good wrestler which tickled Dr. Venditti since he was a champion wrestling in high school. It goes without saying that he is very special to us. He has committed his career to helping us find hope. He is truly our hero in the toughest struggle of our lives.