CHOP Visit #3

Headed to CHOP with PALS
Our flight home from CHOP with PALS
Will loves strolling through the city!

Leukodystrophy Center of Excellence (LCE) at CHOP

We met with six specialists during our visit to the Leukodystrophy Center of Excellence (LCE). First, we met with Dr. Goldstein, program director of the Metabolic Program. We reviewed Will’s genetics, including his mitochondrial tests and extensively reviewed Justin and my medical family history. Will and I share some mitochondrial similarities (mutations), but it has been decided that these findings are not likely to be causing Will’s symptoms.

Next, we met with Dr. Katz. She is the LCE rehab doctor, and we meet with her every time we visit CHOP for an appointment. We discussed Will’s tone management (dystonia and central hypotonia) as well as his sleep habits, and much more. She is the doctor who would inject Botox into Will’s muscles if we were to have that done at CHOP. For now, we will have Will’s Botox administered locally. We discussed some medicines for Will’s dystonia if the Botox wasn’t as helpful as we hope it will be. We will wait and see…

Dr. Katz works closely with PT and OT, and they usually come in at the end of her time with Will. They are a very enthusiastic bunch and win the kiddo over within moments. What we have noticed is that the entire team is energetic, motivated, and full of ideas. We showed them photographs of what we currently use for seating at home, and they made recommendations for equipment that might be helpful in the future. Will had Botox injected on Friday and the team gave recommendations about PT and OT sessions once he had the treatment. They were adamant about Will receiving intensive therapy twice a week for six weeks, on top of his currently scheduled visit from home health. We were excited to hear that they recommended intensive treatment because we have felt that Will needs more skilled therapy, especially once we get those muscles more relaxed. We also felt dread because it has been surprisingly difficult to find pediatric therapies close to home. We had a brief ‘couple’ moment after these three specialists left the room and Justin looked at me and said, ‘this seems like a lot to take on.’ Maybe it was the day, but I quickly responded, ‘it’s a lot, but if we take one thing at a time and put the pieces in place, it is manageable.’ We need to do this for Will, and I thought, ‘iWill find someone to help me.’

The fifth visit was Dr. Jaffe, a developmental pediatrician. I thought that I had seen it all, but then I was exposed to a developmental pediatrian…these humans are super cool. She is a breath of fresh air, and the little man digs her. She is the one who talks to us about growing, eating, pooping, skin, and everything in between. Everyone wants to see Will in a different place on the growth chart. I have felt that Will’s height and weight, though small, is close to where he would be if he were neurotypical. That said, we will follow her recommendations and try to feed him high-calorie shakes and keep offering him the foods we know are packed full of healthy calories and fats.

Dr. Vanderver, the director of the Leukodystrophy program, examined Will next. We travel to CHOP specifically to see her, but again, the rest of the team is excellent. Initially, I didn’t realize that when you go to CHOP to be seen by Dr. V, you see the whole team. It makes a lot of sense, and I am so grateful for this approach. They treat the whole child and give their opinions as a team. Dr. V reviewed everyone’s notes, she examined Will, and then we talked about where we are: undiagnosed. Her advice is to come back to CHOP for an MRI and another lumbar puncture under the supervision of a neuroradiologist who is an expert in neuro-inflammatory conditions. We will travel to CHOP in a few weeks; Will is planning to see Dr. Banwell for an initial office visit, then the next day have his MRI and LP under sedation. The third day we will be seen by the team again and review the imaging. The other specialists will see Will, and we will follow up on how the recommendations are going in Maine.

Will’s Brain:
My ongoing concern about Will’s condition has always been about the inflammation in his brain. It seems that his symptoms wax and wane and there is no thought to treat this while we sort things out. We have used steroids twice for worsening encephalopathy, but CHOP recommended that we hold off on using steroids a little longer while we do more testing. What keeps me awake is that this inflammatory response is permanently affecting Will’s brain, and these effects seem to be the cause of Will’s global regression. He has lost almost everything at this point: purposeful movement, coordination, typical emotional responses, motor planning, etc. Will he eventually lose the ability to breathe on his own? I want to see someone offer to treat his inflammation, realizing that what is lost may never return. The devil tells me I should have driven him to Boston exactly one year ago when his symptoms began to peak; perhaps we would have gotten ahead of the disastrous effects of the inflammation in his brain. Would they have done the testing we waited months for? Would they have tried a steroid burst or IVIG in the setting of acute encephalopathy? I know these thoughts aren’t productive, but as a grieving mother, they are mine, and profoundly haunting. What’s done is done, and I know that Will’s treatment in Philadelphia is exactly what he needs. Will the next tests give us more information and enough evidence to try medications? We will find out in May.

What’s happening right now?
Will has had Botox and I am looking for someone to do PT and OT with him. He needs to be worked hard (it’s relative) and often by therapists. I can’t drive to Saco, but I’m looking for some help finding a therapist to assist us with Will, working his opposing muscle groups now that Botox has been administered.

We couldn’t do all of this without the support from PALS and their mission angels. The friends and family who care for our kids and pets while we are away gives us peace of mind. We all want to hear that there is some way to help Will get better, but what we have is a plan to give him the best care going forward. With all of the love and support you give us, you are part of Will’s expert team too. #WeWill