September/October 2019

It has been an exciting month.

Will has had more days of irritability and high tone (dystonia) over the past couple of months. Our team at CHOP asked our local neurologist to admit Will and perform two tests to better gauge Will’s autoimmune inflammatory process. The tests confirmed what we felt was the case, high inflammatory markers in Will’s cerebral spinal fluid. The medication (Baricitinib) is being used to dampen these levels, but Will is still having significant inflammation despite us being “maxed out” on Baricitinib. The team at CHOP said we are at the max dose and cannot offer any more help with this, that’s a great feeling, let me tell you. They have recommended that we see the immunology and rheumatology team at CHOP. I know these teams work closely on neuroinflammatory conditions but we can’t get an opinion, thought, or recommendation until Will is seen in their clinic. The next appointment is December 19th.

My question: what do we do until December? Will is receiving great therapies at preschool. He has a rich environment and is exposed to so many wonderful experiences. When your brain is under attack, it cannot thrive in the way it could under typical circumstances.

Our options:
*Do nothing
*Use an anti inflammatory until December

We are going to do something. The risks of long term steroid use are always worth considering. Weighing risks, treating Will, or saying “no” to certain recommendations has been something we have grown accustomed to. Tomorrow he will start the prednisolone and remain on it until someone helps us further. It’s a small dose, less than he has had in the past. Maybe a daily whiff will give him a fighting chance at making connections while we wait for the newest group to join Will’s team.

Did I mention we are traveling to Philadelphia the week before Christmas for 3 days?

Tonight: a sleep study. Baseline sleep studies are important because Will has a neurological problem. This test can pick up a multitude of problems that are better sorted out before they become bigger problems.

WeWill 💗

Bittersweet Reminders

Will: 1 week old/3 years old

I am up early before the household gets busy, the best time of day to drink a cup of coffee uninterrupted. I was on Facebook earlier and saw a reminder post from 3 years ago when Will was only a week old. The reminders are bittersweet, and they are frequent because I celebrated him every day. I still celebrate Will, but the grief of losing the healthy boy to this disabling diagnosis lingers. 

For me, there isn’t a solution to the sadness that rears its head, but there are a few strategies that I have found helpful. Grief isn’t something that passes through like a virus; it’s a little piece of heartache that hangs out in the background that becomes part of who you are moving forward. When it moves toward the front of the stage, and it will, it’s essential to be able to acknowledge it and give the attention it deserves. Some tears will fall, the pain in my chest lessens as the tide moves back out, and I know that grief will always be there because I love him so much. I will always feel sad for what we have lost to this disability. I will always want more for him. I will always let my heart feel the loss because it’s not healthy for me to focus on only the good and ignore my intermittent sadness. I have to be present with these feelings when they arise, attend to them, and then take a step forward. 

People who grieve find their way to move forward. Some people know they need to avoid certain situations that may trigger their feelings of loss. These same people may decline invitations to certain events like baby showers, funerals, or hospitals. It’s hard to imagine how you might change because of grief until you are there. 

Baricitinib: 1 year later

One year ago when we started the drug Baricitinib, Will wasn’t able to hold his head up for more than 3-5 seconds. He was often irritable, couldn’t tolerate being in the car, and struggling to gain weight. He was also having frequent “flares” in his condition. During the flare he would be miserable, have sleepless nights, and startling episodes that terrified him.

Within a few days of beginning the drug, we noticed Will’s appetite improved, he was more alert, and he was tolerating PT and OT much better. We noticed that his trunk control improved and his ability to hold his up his head was gaining over the next few weeks. One day in the evening, we were playing and Will started making stepping motions while I held him above the bed; like he was trying to walk. These improvements have continued and he feels better. He’s happy.

We had a few more episodes of flares: becoming irritable along with months of poor sleeping at night. The doctor increased his Baricitinib dose and that seemed to help. 

Over the past 6 months Will has gotten stronger, he’s trying to reach for things by extending his left arm. Also, the level of focus he displays when attending to a task is reassuring. He can activate a switch if it’s held in front of him. We use the switch for cause and effect exercises to enhance communication.

Over the last 3 months, Will has become more and more aware of his surroundings. He’s moving his body to look behind himself, following people with his eyes as they come into the room, and he’s more engaged than we have seen in 2 years. The latest trick, no crying in the car! Could this be possible? Have we gotten our life back with respect to diving to activities? Amazing!

Our one outstanding problem (besides him being completely disabled) is dystonia. The kid has some very strong tone and it inhibits his ability to stand in his AFOs. We went to see a doctor in Boston to see if he had any fresh ideas. Basically, they want to try more medication. He wanted to use more of the same medication he currently uses (gabapentin). While Boston Children’s Hospital seems like an exciting option, and the neurologist was very nice, it didn’t seem like he was going to put much effort into thinking outside the box. There was no hint of putting some feelers out to the multidisciplinary team to develop an indivialized approach for Will’s problem. He mentioned a referral to the physiatrist who could treat Will with Botox and possibly phenol, and an orthopedic surgeon who will give us some recommendations on what to do about Will’s hips. 

I feel like Will is in the best hands at CHOP, but we can’t afford to get all of his care there. The hotels, commercial flights, and displacement of our other children is taxing. We will likely utilize the orthopedic team at Boston since it’s closer. I have asked our pediatrician to initiate the referrals for the physiatrist and orthopedic surgeon at Boston Children’s Hospital, but we will not see the neurologist there unless there is some major reason to consult with him again.

“So, what’s that drug he’s on?”

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.

Here’s a link to the post I referred to above.

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.

Will’s Diagnosis

Aicardi-Goutières Syndrome

Also known as: Cree Encephalitis, Pseudo-TORCH syndrome, Microcephaly-intracranial Calcification syndrome (MICS)

BACKGROUND

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

CREDITS

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

 

Spring Update 2019

Will with his new wings from the American Airlines pilot

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!

Resting hand splints

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!

PT assessment
Happy Will

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.”

Patient Airlift Services pilot William Alderman’s plane.

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

Keep Moving Forward

I said, “when he feels better, he will…”

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?

iWill
Will you?

iWill4Will

The rest…

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

The Kolbe Fund: On Facebook

“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

6 Month Milestone: Baricitinib

Winter Update: January-February 2019

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!

Will: 2.5 years old

December Update: 2018

Look who’s growing!

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.

Therapies:

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!

Travel:

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.

Blessings:

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.

WeWill