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 with children and asked the provider to start seeing Will. Typically children 3 years and older start this type of speech therapy in a developmental preschool setting. In the meantime, Will needs the 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 speech therapy.  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

Ready for Fall


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!

Written with love,

Will’s mommy

 

CHOP Update: Fall 2018

Waiting in the warm sunshine for our next appointment.

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.

Physical Therapies:
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.

Therapy Pool:
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.

Baxter loved his human kids

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.

No escaping work

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.

Looking forward:
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.

WeWill:
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.

New Skills: New challenges

Gait Training Video

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.

Treadmill walking

iWill4Will

Progress Update: Beginning Baricitinib

We hit the ground running after being in Philadelphia for ten days, but wanted to write a quick update about Will. We have had a few questions about the drug, so I thought I’d include some information in this update.

Will takes Baricitinb twice a day. It’s a pill that partially dissolves in water; it doesn’t dissolve but breaks down into little particulates. We mix the particulates with other medicines Will takes and orally administer by syringe; he isn’t bothered by the taste or texture when we administer the medication in this way.

Within a couple of days, we noticed that Will had little ‘bursts’ of energy shortly after his afternoon dose; he would become more wiggly and vocal. So cool! He has been more engaging, less irritable, and his appetite is much better. To our surprise, he took some sips from my straw the other day, something he hasn’t been able to do until now. We have been offering him water in a sippy cup throughout the day for the past year but are routinely offering him a cup of milk or water because he enjoys the challenge of drinking from a cup so much. Small steps in the right direction.

We will be going back to CHOP 8/21-8/23 for lab work and a clinic visit. More updates to come!

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!

Botox for Will

Brain buzz: The Basal ganglia

The basal ganglia (or basal nuclei) is a group of subcortical nuclei, of varied origin, in the brains of vertebrates including humans, which are situated at the base of the forebrain. Basal ganglia are strongly interconnected with the cerebral cortex, thalamus, and brainstem, as well as several other brain areas.

The “basal ganglia” refers to a group of subcortical nuclei responsible primarily for motor control, as well as other roles such as motor learning, executive functions and behaviors, and emotions. Disruption of the basal ganglia network forms the basis for several movement disorders. We have seen an increased amount of calcification in Will’s basal ganglia since his first MRI at nine months old. For more information about functional neuroanatomy you can find it here: Functional Neuroanatomy of the Basal Ganglia.

Spasticity, dystonia, and chorea:

Spasticity is caused by damage to parts of the brain that send the messages for GABA to be released. The damage may occur anywhere along the pathway, from the brain to the brainstem to the spinal cord. The end result is the same: deficiency of GABA and a relative excess of excitatory impulses. The cause of dystonia is not understood nearly as well as the cause of spasticity. It is thought to be due to damage to the basal ganglia, deep structures in the brain that adjust the amount of movement that occurs when people tell a muscle to move. The cause of athetosis (writhing movements) is probably similar. The dystonias are a group of disorders characterized by excessive involuntary muscle contractions leading to abnormal postures and/or repetitive movements. Chorea (nonrhythmic, jerky, rapid, nonsuppressible involuntary movements) is due to damage to a different region of the basal ganglia, so that output from a structure called the internal globus pallidus is less than normal.

It isn’t clear to me if Will has dystonia or spasticity; he could be experiencing both. We see that his tone inhibits him from being able to tolerate his AFOs and because he can’t use those, isn’t able to stand in his stander. I have not seen athetosis or chorea, but Will’s strong tone inhibits him from being able to weight-bear. We have had pediatric rehab doctors, and neurologists suggest anticholinergic medications, baclofen, and gabapentin. The problem with using these medications on Will is that he has severe central hypotonia. Anticholinergics and medications like gabapentin are sedating; these side effects will worsen Will’s central tone, and he would be at a higher risk for aspirating. Given the risk potential of worsening Will’s central tone, we felt that targeting and treating the overexcited muscles is advantageous. We consulted with a local pediatric neurologist who treats patients with similar symptoms with Botox injections.

BOTOX:

Botulinum toxin (BoNT) is a potent neurotoxin produced by Clostridium botulinum that causes regional muscle weakness through its action as a zinc endopeptidase cleaving specific proteins involved in vesicular fusion. Disruption of these fusion proteins interferes with the release of acetylcholine at the neuromuscular junction, resulting in localized muscle weakness. It is also viewed as the treatment of choice for spasmodic dysphonia (i.e., laryngeal dystonia), limb dystonia, and oromandibular dystonia.

Why use Botox for spasticity?
Botox helps relax the muscles by blocking messages from the brain that tell muscles to contract (tighten). Botox injections can help increase mobility, relieve pain, maximize comfort, facilitate muscle growth and ease caregiving. We are hoping that with the use of Botox, he will be able to tolerate his AFO’s and participate in weight-bearing activities.

How are Botox injections done?
The interventional radiologist uses an ultrasound and muscle stimulator to locate the targeted muscles for injection. Once the muscle is located, a tiny needle is used to inject a small amount of Botox into the muscle. This procedure is repeated for each of the desired muscles. Will’s neurologist will not use ultrasound or an interventional radiologist to target his muscles, his muscles are easy to locate and can be done safely without ultrasound.

We look forward to updating you on Will’s Botox treatment!

 

Clean Up!

Feeding Supplies

We can all agree that this has been a really tough flu season. As an ER nurse I have swabbed multiple patients and not many have been negative. That’s a lot of flu. I am a big fan of bleach, but when it comes to my children’s personal items, I choose to use a more gentle approach.

Breastmilk can leave an oily residue inside bottles and pump parts. Again, I don’t use products like regular dish soap because they are full of chemicals and leave a soapy odor. In our home, we use Dapple for our bottles, toys, pump parts, and plastic wear. The sanitizing wipes are great for that quick clean at the end of the day.

Our son has a rare neurological condition, but he has been the healthiest person in the house. We attribute this to consistent hand washing, keeping those with cold symptoms at a distance, and vaccines. A respiratory illness like the flu can be deadly for a person with severe neurological symptoms like central hypotonia.

Give Dapple a try, they are affordable and if you’re running low, Amazon Prime will have you stocked and ready for business in the next two days.

Update: Winter 2018

Will hasn’t had a follow up with the Leukodystrophy team since October, 2017. We were scheduled to see his team and also a new doctor from metabolic medicine on February 1st, but Will developed a fever and could not be seen at CHOP unless he was fever free for 24-hours.

We have had some test results since October, but none of them have been informative. We still do not have a genetic or other reason for why Will developed this neurological condition. We are scheduled to travel to CHOP the first week of April and will keep our fingers crossed (and our hands washed) that Will is healthy and prepared for travel. While I’m beginning to lose hope for a diagnosis, we are able to reframe and adapt to our life with this special boy by taking one week at a time.

Our community is generous and caring. Without prompting, we have had the most delicious mac n’ cheese, homemade baked beans, chili, guacamole, pot pies, lasagna, salads, brownies, and cakes dropped off over the past four months. We have had family and friends pick up or take kids when we need rides for them. Most importantly, we rely on family to take the older kids when we need time to be husband and wife. We are all stronger because of this unexpected journey, and it’s because we have all the right people who surround us with love and support.
WeWill