Will gained access to the drug Baricitinib in July 2018 through an expanded access program offered by Eli Lilly at CHOP. Dr. Vanderver has been Will’s primary neurologist, and he is mainly managed by the Leukodystrophy team at the Children’s Hospital of Philadelphia.
Another parent wrote a great blog post about starting drug treatment for AGS as early as possible. Will’s friend Ellie began the drug treatment within a few months of being diagnosed with AGS, and she has made huge gains. Some of us see small gains, some of us see fewer flares, some of us wonder if our kid is more irritable at times. Overall, we think our kids feel better because of the drug.
Will has changed quite a bit since starting the drug Baricitinib. Most of our friends and family can see that he is thriving. He’s happier, growing, and very much aware of what’s happening around him. In June we will return to Philadelphia for a lot of testing. He will have his one year check that includes research testing, a visit with his cardiologist, and seeing his team of providers.
Thank you for following along. We feel fortunate to have such an amazing group of people caring for our boy.
Also known as: Cree Encephalitis, Pseudo-TORCH syndrome, Microcephaly-intracranial Calcification syndrome (MICS)
Aicardi-Goutières syndrome (AGS) is a genetic brain disease which can be mistaken for the consequences of viral infections affecting a child in the womb. Most children with AGS show signs of the condition in the first few months of life. Features allowing a doctor to make a diagnosis of AGS include:
calcification in the brain
changes in the white nerve tissue of the brain
raised levels of interferon-related proteins (chemicals produced by the body to fight viral infection – but in the case of AGS found in the absence of such infection) in the blood and the cerebrospinal fluid (CSF)
distinctive ‘chilblain-like’ lesions on the hands and feet, which are usually worse in the cold
Last updated July 2018 by Professor Yanick Crow, University of Edinburgh, Edinburgh, UK.
Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.
WHAT ARE THE SYMPTOMS?
In general terms there are two types of presentation in AGS. Some babies, especially those with AGS1 mutations (see ‘What are the causes?’), experience problems at or very soon after birth. Features include feeding difficulties, abnormal neurological signs, low platelets (blood cells involved in clotting), and liver abnormalities. In contrast, other children, develop normally for the first few weeks or months of life. They then experience the sudden onset of a period of intense irritability, cry a lot for hours at a time, sleep poorly, and can develop fevers without infection. During this period there is a loss of skills.
WHAT ARE THE CAUSES?
After a few months the disease process seems to ‘stop’. Many individuals with AGS are still stable in their late teens and early twenties. Typical neurological features of AGS include learning problems, stiffness of the limbs with poor body and head control, dystonia (impairment in muscle tone) of the limbs, and seizures (see entry Epilepsy). Although the neurological problems seen in AGS are often severe, a small number of children, usually those with AGS2 or AGS5-7 mutations, display good communication skills, and a few children can have completely normal intellectual development.
Seven different genes have been identified that, when damaged by a mutation, can cause Aicardi-Goutières syndrome (AGS). Only one gene is involved in any one family.
Will has a provisional diagnosis of AGS because he does not have the genetic markers for any of the known AGS genes. His diagnosis is based on his clinical presentation. He has interferonopathy, and there is at least one other child in the drug program like Will.
HOW IS IT TREATED?
The following treatments may be used for the management of AGS:
management of seizures (which are quite common in more severely affected children) using standard protocols
some children need tube or gastrostomy feeding because of difficulties with feeding secondary to the associated neurological problems
chest physiotherapy and antibiotic treatment may be needed for respiratory complications, which can occur secondary to the associated neurological problems
in some cases, treatments may be considered for chilblains
Surveillance includes the following:
assessment for glaucoma (seen in a small percentage of cases)
monitoring of the spine for the development of scoliosis (which can sometimes occur because of muscle imbalance)
monitoring for signs of insulin-dependent diabetes mellitus (IDDM) and hypothyroidism (these are rare, but treatable, associations seen in a small percentage of patients)
in the case of SAMHD1-related disease, there may be need for monitoring of the blood vessels in the brain with special scans
Our trip to CHOP was brief but busy. A couple of notable things to mention were that Will’s OT and PT had a plan for him when we checked in. The moment we arrived at the clinic, we were able to attend the seating clinic to view some equipment. Not only that, but our OT made Will some resting hand splints for Will to wear when he sleeps or is just hanging around. Without the use of the splints, he will develop some tightness in his hands and wrists, limiting his range of motion and eventually cause him pain. My favorite part was that the OT had read this blog and was familiar with our big family. We are always so impressed by the providers at CHOP. They are efficient and passionate about their patients, and it shows!
Will hasn’t been sleeping well for six months, and it has been trial by error with medications and sleep techniques to try to squeeze in some zzz’s. His neurologist thinks Will is having breakthrough symptoms and decided to increase his nighttime dose of Baricitinib. Last night he only woke twice but slept more hours than he has in months. Winning! I am hoping for more nights like that!
Our air angels made our trip possible again this time by giving us the gift of travel. When the weather was unfavorable for flying on Wednesday, the pilot made a donation for our commercial flight. We flew to Philadelphia and were tucked into our room for the afternoon courtesy of The Kolbe Fund. Our flight home was moved to an earlier time because of weather patterns, and we met another gentle soul who wanted to know all about our family and Will’s condition. We enjoy talking about Will and his journey because when that little boy locks eyes with these strangers, amazing things happen. I believe that without words (our nonverbal child), tells them “thank you” with his soft brown eyes. We feel grateful and blessed by each of these interactions. The pilot from American Airlines gave Will his wings as a souvenir…see, air “angels.”
We will be traveling back to CHOP in June for a 3-day stay. We have begun the process of searching for affordable room rates and manipulating our work schedules. To see how much Will has changed since beginning the medication offered by the program at CHOP makes the rest worth it.
Thank you for supporting us along the journey and following along. We love to share Will’s smile and giggles.
If on social media, check out our facebook page iWill: Our Journey
He feels better. Can you see it? Can he feel better than this? Maybe. Will I continue to ask? Absolutely.
Will is showing us that we are right to advocate for him. We are right to ask for the best care available. It’s up to us to insist that the team doesn’t forget that there is a little boy in Maine who relies on them to feel his best.
Do you advocate for yourself the way I advocate for Will? When’s the last time you asked for what you need: Personally, professionally, spiritually?
I posted an update of sorts, a short blurb about the past three months, but in the background, we have been busy coordinating evaluations for therapies and attempting to obtain important equipment for Will.
When we were handed Will’s terminal illness diagnosis, we were devastated. Throughout his short life, we have wrestled with having to fight for services and equipment we need to care for him. For example, he is too big to fit in a baby bath seat, the type you would buy at Target. He can’t sit on his own, we hold him in the shower to bathe him. Our Early Intervention program (CDS) in Maine has given us a bath seat to borrow until we get one of our own. In November we submitted a request for a bath seat to insurance; we still do not have it (March 2019). CDS has given us other equipment to try so we can start to figure out how to get Will in a standing position. The primary service provider, the Physical Therapist, has been amazing and loves our family very much. She has sat with me as I cried with frustration/worry/grief…all of it. She’s been here since the beginning and I adore her. The rest of it has been hard to navigate.
More fight? Don’t give up. He’s worth it. iWill.
Will was seen by his Maine neurologist in December for a regular follow-up visit; he did not realize that we weren’t plugged into speech or communication therapy. He ordered an evaluation to be done by a local expert who sees children needing augmentative communication. This evaluation would be the beginning of a valuable roadmap that helps navigate the functional world of communication for Will. He is nonverbal. He is expressive with his body, mainly his eyes, and he communicates in his own way. The specialist asked us to forward the referral to the Early Intervention team (CDS) because they will be following Will into the preschool setting (ages 3-5) where his direct therapies will take place. To our surprise, the CDS team denied our request. They said, “Will does not have the building blocks of communication appropriate for this type of evaluation.” This is not true. They insisted we have a meeting to discuss their position on the matter. They disagreed with Will’s doctor and dug their heels in. “Not appropriate,” they said. I rebutted, “if Will is not likely to sit, crawl, walk or feed himself, does he not need PT and OT either?” If we are talking about the building blocks of future function, let’s have that discussion too.
We fought with CDS for the next six weeks over this and decided to schedule Will’s evaluation and pray that insurance covers it. Fast forward several weeks, we attended this evaluation: Will surprised us all. Not only did he catch on to the games he was part of, but he followed along. We were embarrassed that we didn’t pursue this earlier. We learned so much about “being Will’s voice.” Our second visit is this week; there is so much more to learn about communicating with a nonverbal child. We’re ready! This lifestyle is exhausting, but when you’re fighting for your kid, it’s worth the effort. I know government run programs are not perfect. However, the CDS Early Intervention program in Maine should do a better job managing complex needs children. Better yet, let another program take on those complex children. Maine, you can do better.
Unexpected Gifts: Our next visit to CHOP is scheduled for the first week of April. There were rooms available for one of two nights needed for the appointment. The harder news was that the room rates were over $300 per night in the usual locations. We reached out to the social work department that assists families visiting the neurology team at CHOP. With their help we applied for the Kolbe Fund, and they approved our request. They gifted us our stay through their “Hopeful Nights” program. We now have a reservation in Philadelphia for our appointment in April. We are so grateful. All they ask is that we pay it forward by donating to the next family who needs help. More about this fund here: www.thekolbefund.org
“In 2011, our son, Max, received a life-altering diagnosis. With support from family, friends, and strangers, Max had the best medical attention and is now a very healthy boy. In awe of the love and help we received from others, we founded The Kolbe Fund to help other families who must travel for care.” – Kate and Aaron Schnittman, founders of The Kolbe Fund
We traveled to CHOP in December for Will’s follow-up appointment with the research team. We reported that he had been experiencing a long stint of interrupted sleep and more irritability over the past two months. The team decided to change the dosing of his Baricitinib; they thought he was experiencing breakthrough symptoms. We traveled home to Maine and started our new plan. Over the past two months Will has been happier, more vocal (laughing and squealing), and tolerating being in his stander better. He has also put on more weight and is thriving. Amazing what happens when you’re feeling better! CHOP recommended that we have Will’s lab work checked because he is anemic again. A side effect of Baricitinib is anemia. Since Will has an affinity for red meat, we have been serving him plenty of that. We will recheck his levels in the next week.
Our team at CHOP also recommended that we add a pulmonologist to Will’s team. We found a pediatric pulmonologist in Maine that specializes in neuromuscular diseases. We met with this doctor about two weeks ago and are thrilled to have him on our team. Not only is he trained to manage a kiddo like Will but he has trained at Children’s Hospitals where he had a plethora of experience. We are in really good hands! We are headed back to CHOP the first week of April, and while we thought we had avoided a crazy week of events in Philadelphia, there must be something else going on because we are having trouble finding a HOTEL ROOM! Wish us luck!
We are headed to CHOP for the 6-month follow-up visit with the research team in January. It has been six months since we started Baricitinib and we will have PT, OT, and neuropsych tests done to measure changes in Will since starting the medication. Will has made slight progress in his movements, but mostly we notice that he is happier. He still cannot sit, roll over, or accurately reach for toys consistently. He is non-verbal and cannot communicate his needs with us.
We have ramped up the physical therapy sessions and asking for two sessions/week whenever we can get on their schedule. We had a follow-up visit with our neurologist in Maine, and he didn’t realize that we were not doing speech therapy yet. We have tried to find a speech therapist but haven’t been unable to find a practice in Maine that can treat Will. We have heard, ‘we don’t have what we need at this practice to provide therapy.’ Early Intervention therapy (for children under 3 years) in some states provide therapies in the home, but Maine does not. Maine’s Early Intervention program has adopted a “coaching model” but does not provide direct care to children…this has been a huge source of frustration for myself and many other families.
Our neurologist called a practice in Portland that provides augmentative speech therapy evaluations for children and asked the provider to see Will. Typically children 3 years and older start this type of speech (assisted and augmentative) therapy in a developmental preschool setting. In the meantime, Will needs therapy to work on the building blocks of communication. It has been 21 months since we started Early Intervention here in Maine and we are finally getting plugged into a practice that can appropriately evaluate Will’s communication needs. It would be ideal for Will to get some of his intensive therapies at the same place. Ideally, I’d like to find two therapies in the same building (OT and Speech). We may have to drive 45 minutes for combined therapies, I’m waiting to learn more about the practices in Southern Maine.
Will enjoys when we take his hands and explore with him. At a restaurant, he likes when I grab a crayon and color while bringing his hands along for the activity. He cannot grasp an object by himself anymore; the neurological insult robbed motor planning from him. He likes when we fill the dump truck with colorful items and then dump them on the floor. He also likes it when I put a snack in his hand and help him reach his mouth. The delight he exudes when he takes a bite catches us both by surprise. For Christmas, Will is going to get fat crayons and a sketchbook!
He is thriving!
Will is close to losing his Failure to Thrive diagnosis. He lost weight during his 10 months of not feeling well, battling neurological flare-ups, etc. I kept saying, ‘when he feels better, he will eat.’ Well, we are making progress because he feels better. Someone said, ‘what are you going to do if someone reports you to DHHS because you won’t allow them to surgically insert a feeding tube?’ Well, here we are: gaining and thriving!
We haven’t done any traveling other than hospital visits over the past year. I miss my family; it isn’t like me to go long periods without a trip to Pennsylvania. Airline ticket prices are obscene, and it’s prohibitive to fly the kids to see my parents. Worse, is worrying that they have overbooked a flight leaving a family like ours scrambling at an airport. Hopefully, we can make a trip happen next summer, even if we have to drive. Speaking of driving, Will allows me to drive him about 25 minutes without crying now. I can go to the grocery store, drive to Falmouth for appointments, and even pick up the kids at school.
Many of our friends helped during the time when I was mostly homebound with Will. Our friends would bake us treats, bring lasagna and mac n’ cheese, and Will’s favorite food with crackers: guacamole! Our village never ceases to amaze me. Even our mailman goes out of his way to help make life a little easier for us, he always asks ‘How’s Will?’ Will has shown me the value of slowing down and checking in with people, being more present.
Our extended family: Scott, RN
We have been blessed with the most amazing registered nurse. When I work, Will is cared for by Scott. Scott has been a nurse for 33 years. He has been a NICU nurse, a Nurse Director, Associate Director of Pediatric Surgery and Anesthesia, Divisional Director of Nursing Services…worn so many hats. He also works per diem at the state prison in Maine. This guy is a sweet as he is intelligent and after a breaking in period, Will gave into the idea of being cared for by someone other than Justin and I. They have become great buddies. It’s such a relief to know that Will is in good hands and happy while I’m gone for my shifts.
Thank you for following along. We are grateful for the friends and family who embrace our journey with us and continually add support along the way.
Is there a better time of year than fall? Some would say the first snowfall is their favorite; and while there is something romantic about the first snowfall, it just isn’t as renewing as a bright, brisk fall day. I love every season, but fall is my favorite. I love watching the first sign of flurries but am always sad to see the beautiful leaves hidden by a blanket of snow.
After a hot summer, I welcome the relief of humidity and find comfort again during outdoor runs that seemed harder just weeks prior. For me, there is that urge to train more often because snow impedes outdoor running and cycling.
As a mom and a nurse, fall reminds me of the illnesses associated with the upcoming months. RSV, parainfluenza, influenza, croup…it’s coming. I’m starting to see youngsters affected by respiratory illnesses at work. It’s a reminder that we all need to do a better job at preventing the spread of respiratory illnesses by washing hands, covering coughs, staying home when feeling ill, and vaccinating if possible.
Here’s the thing: For our most vulnerable population, less kisses! No kisses to the hands, or face during flu season. Doesn’t that make sense?! It’s so hard to old back a kiss when you’re grandma or grandpa or adoring Aunties. Everyone loves to kiss babies and toddlers. It’s a trap! Keep your precious loved ones safe and kiss them in the spring.
Remember, you’re contagious and spreading some viruses before you realize you have one!
It has been ten weeks since we started Baricitinib and we had another follow-up appointment at CHOP this week. We started the day with lab work, then met with the neurologist to review his labs and discuss how Will has been doing since our last visit.
Since Will started Baricitinib we have noticed the following changes:
*He can hold his head up longer than he could before starting the drug.
*His trunk strength has improved, and he can maintain an upright posture when straddling our legs for longer periods of time.
*He has become more vocal: think tiny dinosaur…he is not babbling yet, maybe someday. The neurologist says that vocalizing is the precursor to babbling. We all wonder what his voice would sound like.
*He is easier to console, less irritable, and generally happier.
*We think he is bringing his hands to his mouth more often, which has been tough because he bites himself.
*He is chewing and swallowing better than he was, with a noticeable decrease in gagging on fluids and medicines.
*He is demonstrating reciprocal movements in his legs when assisted to standing and also on his hands and knees. The neurologists and research team is so excited to see this too.
Our team at CHOP recommended custom orthoses and a TLSO braces to use for therapy sessions. In addition to this, we have tried some medications to address the dystonia in Will’s arms and legs. Botox was given on two different occasions but did not seem to make a difference in Will’s tone. We moved onto baclofen, an oral medication but he did not tolerate it at all. He lost his spark and wasn’t eating meals because he couldn’t hold his head up. We have moved onto gabapentin. Gabapentin, like baclofen, has been a drug we are titrating to get to the desired dose. So far, the gabapentin has not made any difference in Will’s tone.
Sleeping (or lack thereof):
Will hasn’t slept through the night in about six weeks. We are a mess, exhausted. No sleep, no energy for exercise, less patience, etc. It’s ugly. We aren’t sure why he isn’t sleeping, but I know that swimming made a huge difference in Will’s sleep cycles. Six weeks ago when we were regularly crashing our friend’s pool, he was sleeping through the night. Could that be all it is, does he just need to move his body? Good grief! Our deck is near completion, and the hot tub is going to be placed in the next week or two. We need to have an electrician do his thing so we can be up and running.
We couldn’t afford to add the pool this summer and have big dreams about what that might be like for Will and the other kids, but it’s expensive and may take another year or more to save. Glamour Pools has an above ground pool with a sunbathers bench option that would be great for Will’s physical disabilities. To sit him in a chair in a shallow area before moving to the deeper water would be more advantageous. We have the sweetest friends’ who give us the open invitation to their beautiful pools; we are very fortunate to have such amazing support.
Many of our friends know that we lost our beloved dog Baxter to lymphoma. A huge presence is lost in our home. Every day one of my children say, ‘I miss Baxter.’ Hunter sleeps with the blanket we covered him with while he was sick. My children will never forget the love they have for Baxter. I miss walking into the kitchen and seeing him sprawled out on the floor, watching me with his big brown eyes. I also miss seeing Mia on the floor with him. She always took Will to him and played. Will loved his long-haired friend.
Daddy works during our trips to Philadelphia. He isn’t used to being away from his construction work as often as we have been, the stress wears on him but he tries to juggle it all as best as he can. Will offers a smile as we wait for dad to finish his phone call.
Our next trip to CHOP is January 8th. We will be there for two days and then fly home. At this visit, we will have labs drawn, see the doctor, and then have research visits with PT, OT, and neurobehavioral psychologists to track Will’s progress on the medication.
We appreciate the GoFundMe gifts, cards, help with the pets and kids so much. PALS pilots fly us to Philadelphia and that makes such a difference for us; we couldn’t afford to go to PA as often as we do without them. Not only does PALS give us the gift of transportation, but it helps Will stay healthy. The germs Will would encounter by flying commercially would undoubtedly impact his health. The monies received from our fundraising helped us with the hotel fees, meals, and Uber rides while we were in Philadelphia. We used all of the donated money for the trip in July, August, and this week. That’s a lot of money in a short amount of time. Having a child with special medical needs is very costly. I just remembered a nice gesture: the night we arrived in Philadelphia we went to the restaurant in our hotel. Our waiter asked what brought us to the city. When we said we were visiting for a medical appointment at CHOP, he apologized and wished us well. At the end of our meal, he brought us a paper bag and said he wanted to send us on our way with some fresh baked cookies. Things like that make me sad and happy all at the same time. Justin ate all the cookies (ok, maybe all but a bite). I ate the lonely chocolate cupcake.
“When I die, I want to know that I helped all the people I could with the time that I had.” J.P.
Arguably the most beautiful person I have met during my life.
We have seen Will move his legs forward, at times bending his knees at the proper time in the gait sequence. This is progress! He wasn’t able to do this until recently. If you look at the video closely, you can see he needs to be held up and also needs supportive ankle orthotics.
We are headed back to Philadelphia next week and I have asked to meet with our beloved physical therapist. We will have his legs casted and orthotics will be made for him. Also, I’d like to pick her brain about assistive devices that we can use at home to challenge Will (gait trainers or gait trainer/standers). He has shown us some new tricks, let’s see what we can do with some more practice. We are upping the ante on PT…if we need to go to Philadelphia to get what we need to help Will, we will. I’m not taking ‘you won’t be able to get that here’ for an answer again.
Click on the underlined links to see some videos of Will.