Many parents have contacted me about MMA, but are hesitant to coordinate a visit or contact the researchers at the NIH. I wanted to let you know some things that have been helpful for me and to encourage you to please participate in the NIH research study for your child (* if your child’s health allows). The first most helpful thing I learned is that if your child is under 2 and not able to participate in this study your doctor can contact one of the MMA researchers in the MMA study and the MMA researchers could respond via email to your doctor to make sure your child is being appropriately managed. There is a standard protocol that your child should receive upon diagnosis and it’s not buffet style where certain meds are left out. Because your child has an inborn error of metabolism the way they process their food is incomplete, The medical foods they receive are supposed to help your child receive the nutrition your child needs to complete the energy cycle.

I would like everyone to consider the following when planning a visit to the NIH 1) Getting on their schedule takes time 2) coordinating the records release of the care providers for your child is never easy 3) they can cover some domestic travel costs and you can stay at the Children’s Inn which makes your visit more affordable 4)  Remember that the visit will help you better understand what your child is dealing with and manage their needs but this visit will not fix your child’s MMA (at least not yet).  

1.  We like to get our researchers buy-in before we consider making any larger changes, as they see more MMA kids than anyone else that I know of. I emailed Susan Ferry (susan.ferry@nih.gov) to ask that we be added to their schedule.  Our son has dialogic CP with a movement disorder and the NIH has movement disorder clinic which has a 2 year wait. There was a cancellation, so Susan was able to schedule a visit with to co-inside with the Movement Disorder Clinic.

The movement disorder clinic needed a sedated MRI which means that Leo needed to be put under and intubated because it’s safer for them to manage his breathing. Dr Oleg {Shchelochkov, M.D.} came to our appointments so make sure Leo was sedated correctly. We thought that they were worried about our ability to keep appointments, but the researchers accompany everyone in the MMA appointments we were told. 

The MRI showed the damage was not as significant as they thought, and that Leo was making progress.  We talked about meds and devices that could be implanted but it was determined that slow and steady progress was better than changing what is working. Again, I was hoping for a magic solution but what is ahead is more therapy and more appointment and more hard work for Leo to gain back the skills he lost prior to crisis at 16 months.

1. Our records arrived during our visit and throughout during the movement clinic. I wanted a compare contrast which doesn’t always correlate so the imagery history. I started to request the transfer of our information early March for Mid May- and absolutely nothing transferred on the first try. I used the providers forms and the NIH forms it didn’t matter it took at least 3 tries. It is best to talk to a real person in the records dept and have them confirm they received your information and will transfer the information by a specific date.
   
   
2. The entire trip felt like a college NIH orientation. You have housing and a schedule and it’s a full day.  They do cover some domestic travel costs and there is no cost to stay at the Children’s Inn.  The NIH is a secure government facility so they background check you before you can stay at the Children’s Inn. They check your ID, your vehicle, your belonging before you can be allowed on site.
   
   
3. We are participating in a research study and your child is rare and important. Nobody has all the answers. The study helps everybody better understand MMA and how it manifests in your child. Leo asked me, why am I here? Are they going to fix me? Which is a difficult question that I tried to make the doctors answer because I didn’t have a good answer myself. I told him about how we have to make sure he eats low protein foods so he doesn’t get sick and the doctors wanted to make sure he was doing ok. After that, I would just tell him why we were at each appointment, like they want to look at your heart to make sure it’s doing its job.  Our kids aren’t broken, they metabolize food differently. Your child is already their own person and was going to be their own person with or without MMA. Each time, we go to the NIH we are glad we went. We are so relieved to see doctors who understand Leo’s condition and are not afraid of it. We try to let our kids be kids and having a sister has really helped. She already accepts that he does things differently or gets a daily injection because for her it has always been this way.