Update: Physical Therapy and Baricitinib

Physical Therapy and Baricitinib

We headed to CHOP this morning to visit a physical therapist and try out a beanbag chair. She had shown us some things to try with Will, so we asked her to demonstrate for us. 

While there we met with one of the techs who casts kids for custom orthotics. We are waiting to hear if insurance will cooperate with them and if so, we will have some important pieces of equipment made for William. He will have some splints for nighttime, and a supportive vest (dragonfly TLSO) to wear during therapies and feeding. We have been hoping to schedule this visit for a while and it seems like it might come together for us. She told us to keep Will swimming and add equine therapy whenever we can.

Tomorrow will be one of our more difficult days. Our day starts at 6:50am. An IV will be placed and Will’s blood will be drawn over the course of the day to see how he is metabolizing the drug. The samples are sent to an outside lab and then once analyzed, we will adjust the medication accordingly.

We haven’t noticed any changes in Will since starting Baricitinib. The goal of the medication is to slow the progression of the illness and allow his brain to further develop. The interferon that Will has in his brain creates a hostile environment and makes him feel lousy. Click the underlined word above to read about JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. Our best description of what Will has is an ‘interferonopathy.’

Interferon: click here

Here we go!

Last year we learned that we could not have access to the experimental drug that was being given to the children in the Compassionate Use Program (now known as ‘expanded access’) at CHOP. We were excluded from the program because Will’s genetic results did not show the syndrome that the trial was intended to treat. It was incredibly painful to see our boy lose his milestone achievements over the course of 3-4 months and not understand why it was happening.

Finally, after looking for a treatable cause and not finding an answer, we have been granted access to the drug. A ‘single patient IND’ was requested and we will begin the drug that should help Will feel better. More specifically, it works by blocking the action of enzymes known as Janus kinases. These enzymes play an important role in the process of inflammation and cellular damage. By blocking the enzymes, baricitinib reduces inflammation. He will still battle the inflammatory condition that affects his brain, but we will be reducing the way his cells respond to this ongoing attack, which should help him feel better.

He will have a full medical exam, including a cardiology consult, EKG, echocardiogram, and lab work. Once the results are available and reviewed by his team, he will be given the drug. We will monitor Will and probably repeat labs once the medication has been initiated and then return to Maine 10 days later.

Learn more about the Compassionate Use Study here!