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!

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


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.


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.

The Little Big Family

Last night we were talking about marriage, relationships, and the challenges of raising kids in a technology-heavy time. While I could trail off and carry on about our feelings concerning children who have unfettered access to the internet and gaming world, I want to write about my favorite topic: Us!

Last night we were talking about our relationship and marriage. We discussed how Will’s special needs add an unexpected challenge for us. Without pause, I said, ‘well, we met, fell in love immediately, merged our families, and married within nine months. Not one moment of that felt like hard work.’ When we met, we knew that being together was the only way we were going to live the rest of our days. We wanted to be married. We wanted a ‘together baby.’ We promised one another that nothing would stand in our way. Well, we attained all of our goals and feel incredibly grateful to be together. We have our blended family, dogs, and our together baby. We didn’t expect the stress that comes with managing a challenging disability, but we can get through it together. Stress and fatigue can bring out the ugly bear in us. However, we have ‘Us.’ We have the union of two families and a beautiful ‘together boy’ who was meant for us.

This is Us: The Little Big Family with one important message:
We are exactly where we are meant to be. Justin and Melissa will take on every challenge that comes along. I may not be able to convince Justin to stay away from soda forever, but I know when he opens his eyes in the morning, the most important people are his family. He also wants whoopie pies, and his feet rubbed. Anyway, Happy Valentine’s Day from The Litte Big Family to yours.

The Unseen Bureaucratic Challenge: Obtaining resources for your special needs child

DHHS Office

July 7th, 2017
Will’s 1st birthday we were driving home from a Gastroenterologist’s office after a nutrition consult. Will’s neurological condition had worsened over the course of eight weeks, and we were afraid that he would decompensate further and not eat enough to thrive. As we were driving home, Will’s neurologist called and asked to be placed on speakerphone so my husband and I could both hear what he had to say. In the next few moments, we learned that Will had been given a diagnosis of Leukodystrophy and they presumed he had Aicardi-Goutieres Syndrome (AGS) based on findings in his Cerebral Spinal Fluid (an extraordinarily high neopterin level). Neopterin is a biomarker that is present in the setting of immune system activation. Along with high neopterin levels in his CSF, they reviewed his MRI again, which was read as normal two months prior. After reviewing his MRI again, the neuroradiologist concluded that Will had mineralization in the white matter of his brain. With the high Neopterin levels and calcifications in his basal ganglia, a clinical diagnosis of AGS seemed most appropriate.  It felt especially cruel to get such difficult news on Will’s 1st birthday. Some have said, ‘once you know, you’ll feel better.’ I didn’t feel better. In fact, I doubted the diagnosis. AGS is a genetic syndrome, and the genetic changes are found on one of seven genes. I remember thinking, ‘How can this be? He is our love baby.’ I still feel this way.

A week later we met Will’s neurologist to discuss the diagnosis. I remember not talking about the diagnosis because it took my breath away. A genetic test was pending, and we were told that AGS was an autosomal recessive syndrome passed onto Will from my husband and I. I asked, ‘what happens when Will’s genetic test does not show the gene changes associated with AGS?’ The doctor looked at me sympathetically and softly said, ‘I think we will, but if for some reason we don’t see the genetic markers for AGS, we will look for mimics of AGS.’ We asked, ‘what would you do if this was your child?’ He replied, ‘I would take him to the experts, and in this case, they are in Philadelphia at CHOP.’ Our neurologist had reached out to an expert at CHOP who runs the Leukodystrophy clinic and had information about their program, specifically the compassionate use program at CHOP. There is currently a compassionate use trial for AGS kids at CHOP and they have seen clinical improvements with the drug they have been using. To be included in the trial, there is a list of criteria each patient needs to meet. There has to be genetic confirmation of AGS to be included in the study. As awful as we felt, we envisioned a hand reaching to us from Philadelphia. We thought, ‘this won’t cure him, but it could help him in some ways.’ A week later the genetic test results came back, and his Whole Exome Sequence (WES) was normal. No sign of AGS, and a denial from CHOPs compassionate use trial head researcher.

Fast forward to September (two months after Will’s provisional diagnosis of AGS), and we were meeting the Leukodystrophy team at Clinic Day in Philadelphia. We met with a renowned pediatric neurologist, Dr. Vanderver, and her team. We had consultations with a developmental pediatrician, nutritionist, physical and occupational therapists, and a rehabilitation doctor. The therapists recommended many pieces of adaptive equipment. Some things I had heard of, some I had not. Over the next three months, we were managing flares in Will’s condition; he was hospitalized, traveled back to CHOP for follow up care, and focused on Will’s nutrition. Will was growing longer, and I began feeling like we would need options for safe seating (supportive chairs, adaptive feeding chairs, adaptive strollers, a stander, etc.). We also lost our childcare because Will became too much to care for in a traditional daycare setting. Will wants to be carried and cuddled while he is awake. His favorite place is snuggled against our chest, heart-to-heart. My husband and I rearranged our work schedules, and with the support of our colleagues, we have managed to piece things together week-to-week. I have been working most weekends and one day a week, and my husband works two full-time jobs around my schedule. We also have five children and manage their interests simultaneously. Children have been getting rides from family and friends, waiting patiently for their turns, and learning that there are some things that we just cannot do. Everyone is adapting.

We are fortunate to have good insurance. Our insurance company is billing the in-network rate for our specialists in Philadelphia because there isn’t anyone in Maine who specializes in Leukodystrophy. One of the things I did not realize is that even though we have great insurance, there will be equipment and resources that are not covered. In Maine, people who do not have insurance or have disabilities can apply for MaineCare. Without MaineCare, it isn’t possible to access many of the services you rely on when faced with a complex medical condition; specifically in-home services. As we wrestled with the reality of our child being disabled, we didn’t realize that we should be applying for MaineCare (as soon as possible). It had been ten months since we first saw our neurologist, we were already behind the eight ball. We were adapting to our new life and were completely overwhelmed with grief and shock. I was (am still) looking for a treatable cause. I was slowly adapting to his new physical and cognitive limitations; not at all ready to accept this was the fate of our boy, completely disabled.

Late September 2017:
Applying for MaineCare
What a cumbersome process. We have a family friend who is familiar with the forms, and she assisted us step-by-step. We faxed hundreds of pages to DHHS so they could review our application and financial documents. They often misplaced things that were sent and faxed to their office. More than once we called them, or they called us looking for additional information. This went on over the course of several weeks. Two months later the phone call from DHHS came: ‘Hi, this is Michelle, I want to let you know that we have deemed William completely disabled as of August 1st, 2016.’ That wasn’t something I could repeat without feeling constriction in my throat and chest that made it too difficult to speak. We should be excited at this point, we have moved through the MaineCare process. It feels awful. I’m not excited; I feel immense pain. At this point, MaineCare has been denied because we both work and do not meet the financial requirements for approval. Once denied access to MaineCare, families can apply for Katie Beckett, another way to access resources through MaineCare.

January 2017:
The next step, applying for Katie Beckett
To get this benefit we needed to complete a Goold Assessment at DHHS. The State of Maine requires both a financial and functional assessment to determine an individual’s eligibility for most In-Home Services. The Goold assessment helps individuals and families understand what services are available to them through MaineCare.

If a parent or guardian works and has insurance, they are not eligible for MaineCare assistance. However, all of the services provided by the many mental health agencies are only available to those whose children receive the MaineCare benefit. Some families have gone years without help or services because they didn’t know they existed or they didn’t know there was a way for the child to become eligible. There is an answer, and many families can qualify for services paid by MaineCare through the Katie Beckett Option. The Katie Beckett Option is a MaineCare option for children with serious health conditions. It is one of the many ways a child can get MaineCare. Katie Beckett has a monthly premium, just like our primary insurance. This secondary insurance will cover co-pays and hopefully, pick up where our insurance leaves off. We had our Goold Assessment at DHHS January 3rd, and the nurse conducting the assessment said we would hear from our contact within DHHS about our premium within a week or two. We heard nothing from DHHS despite calling and leaving messages twice a week for almost four weeks. At this point, we have several thousand dollars paid to medical doctors and hospitals and have been denied equipment and nursing services for our sweet boy. We have been anxious to welcome home nursing care into Will’s life because, with the right caregiver, my husband and I can leave him in loving arms and go to work.

To get coverage through the MaineCare Katie Beckett option:
•You must fill out a MaineCare application;
•Your child must be 18 or younger; and
•Your child must meet financial and medical rules.
YOU must also have the stamina of a Pronghorn Antelope because the ball will be dropped so many times during the process.


  • I assumed that anyone who has a significant medical disability would encounter the initial steps of acquiring these services with the aid of their primary care provider. That was incorrect.
  • I assumed that Child Development Services (CDS) would interject and get the MaineCare Labrinth started with our family; that was also incorrect. What I learned is that the average person has no idea where to begin with this process.

The reality of the situation is that some people have to seek out case management services on their own. Or,  someone recommends applying for MaineCare and they go home and search the internet. Some people post a general question on Facebook to a private group; something along the lines of, ‘What is MaineCare and how do I get it? Or this, ‘I’m told I need MaineCare but none of the doctors have mentioned it.’ Someone may even mention that they should obtain a case manager. How do you do that??

People who are involved or work with individuals in mental health or other medical services recommend case management services to the patients, and it’s up to the patient to agree with receiving this help. There are people who have submitted their application (DHHS has 45 days to make their determination of approval/denial), and they hear nothing from DHHS about their decision. I have heard stories about people who didn’t realize that if DHHS doesn’t make their determination on time, that they automatically receive temporary benefits until a decision is made. There are some people who didn’t realize they had received temporary coverage because they got lost in the system. It’s only when a case manager keeps track of ‘the clock’ that people get their coverage faster because DHHS is hounded by the case manager to complete their file.

Where things get lost in the land of DHHS:
DHHS Office of Family Independence (OFI) receives the application and has two days to process it into their system and then sends it forward to the medical review team to determine disability. Once the DHHS OFI confirms receipt of the application, the 45-day clock begins. The Medical Review Team (MRT) sends medical requests to all providers involved in the individuals care. Once they have the file completed, they send it to an independent medical reviewer (medical doctor or psychiatrist) to determine disability. Once the MRT receives the determination from the reviewer, they immediately acknowledge it in the system and send the determination back to DHHS OFI. I have learned that the two systems (MRT and DHHS OFI) do not interact and that is where the biggest GAP is. There have been instances where the MRT has approved the individual for disability, but DHHS has sent out a denial letter; completely erroneous and leaving people desperate for care and resources in limbo.

February 2nd, 2018
Where we are in the process: almost 5 months after getting started with our MaineCare application.
We talked with DHHS yesterday, and our point person gave us information about our premium for Katie Beckett. She is ‘pushing the information through the system’ and we should receive our paperwork so we can begin paying our premiums and using the benefit as secondary insurance. To get reimbursed for out-of-pocket expenses and the insurance co-pays we have already paid, we need to contact every provider and have them submit Will’s MaineCare information to their billing department; they would get reimbursed from MaineCare once the bills are processed. Once they are reimbursed, the providers would then reimburse us. We would need to hire someone for this process alone; I can barely keep groceries in the house; let alone find time to shuffle all this paperwork. Going forward, we will have the Katie Beckett benefit, and this will help us with future co-pays and out-of-pocket expenses.

Don’t complain if you can’t recommend a solution:

When given a disabling diagnosis it would be helpful for the primary provider to immediately connect families and patients with a case manager who can begin the process of applying for benefits. In my opinion, this should be done at the initial encounter because we are doing patients a disservice by letting this fall by the wayside. It’s not enough to have follow-up appointments with specialists and not have this piece in place. Specialists are charging between $350-$600 per visit; some thought should go into the social, emotional, and medical wellbeing of patients and their families. Assigned case managers should be following up with patients while the approval process is underway. Even with my effort and the effort of our family friend, it was an overextended process that went on for months on end.

We can and should do better for our families in crisis.


Adaptive Equipment: AFOs and Standers

AFOs from Maine Orthotics

Will has dystonia affecting his extremities. Because of his strong, involuntary tone, he needs ankle-foot orthotics (AFOs) to hold his feet in a flat position (dorsiflexion), so he can bear weight on flat feet. When standing, or held upright, he points his toes downward (plantar flexion) and cannot stand. Will’s condition will prevent him from walking and standing on his own, so we need to adapt to his limitations and support him into those positions.

In order for Will to stand in his ‘stander,’ he needs to wear his AFOs. Will needs to stand at least twice a day for 20 or more minutes each time (our current goal), so his bones and muscles develop normally. Check out these cute shoes from Old Navy! I love a good deal, and these were only $7.99! Winning!

After Will has his AFOs on, he is able to use a stander. There are prone standers and supine standers. We are trialing these standers so we can assess which type of stander will be best for Will. To obtain durable medical equipment (DME) you need a letter written by a therapist demonstrating the medical need for the piece of equipment you are requesting. A physician has to sign the letter written by the therapist, then it is sent to the insurance company for review.  If the insurance company approves our request, the medical supply company will order the piece of equipment from their vendor. Once ordered, the equipment is delivered to the medical supply company (this takes a few weeks) and they use the patient’s measurements to set up the equipment. It can take 3-6 months to go through this process.

Prone Stander
Supine Stander


Feed My Baby

Mom and Will: December 2017

I have four children and two stepchildren. As a mom, I chose to breastfeed my infants into toddlerhood. I was able to stay home with my first batch of kiddos until they entered elementary school. Child-led weaning worked well for us; it’s when the toddler replaces nursing sessions with meals over a period of time. We ended our nursing experience around the time they turned fifteen months old. At fifteen months, they were only nursing once a day, so it was an easy transition for both of us. The fourth child started off very much the same way, breastfeeding from the start. The difference with Will is that I returned to work when he turned three months old. I had never pumped and stored milk; my other children were breast to sippy cup kids. I was a little worried about banking enough milk for days when I had to work. Additionally, I worried about the stress of pumping while at work and feared that my supply would dwindle. I began storing milk as early as three weeks and had a hearty frozen supply by the time I went back to working twelve-hour shifts.

The ER nurses are fortunate to use the ED provider call room.

Houston, we have a problem:
When Will’s neurological symptoms became more obvious at nine months old, he also became a noisy eater. I didn’t know what all the noise meant until about three months later when an Early Intervention Speech Language Pathologist (SLP) was at the house for a consultation. She asked, ‘does he always sound like that?’ I told her that I thought maybe changing his bottle nipple from a number one to a two changed something, producing the audible noise. She replied, ‘no, that is a disorganized suck.’ All of a sudden a light bulb went on. Will has a disorganized suck because of his worsening neurological condition. He has central hypotonia and cannot hold himself upright, hold his head up long periods of time, and has stopped babbling. Friends, who are physicians would ask me, ‘how are feedings going?’ It still hadn’t registered until I connected the disorganized suck with his other symptoms. What else does this mean? He is also at risk for aspiration.

The suckling action of an infant produces prolactin, which leads to milk production; more suckling leads to more prolactin, which in turn leads to more lactation. This is a positive feedback system: the product (milk) produces more suckling and more hormone. Breastfeeding is all about supply and demand. The baby suckles, or the mom uses a breast pump, and essentially an email is sent to the brain that signals the whole thing continue: Make more milk! The disorganized suck Will had acquired led to him receiving less milk, which in turn made me produce less (decreased supply). The other thing we didn’t anticipate was that his hunger cues changed and it became harder to know when he was hungry. He wouldn’t fuss or pull at me; he would just sink into me and act tired. His weight plateaued. He became a Failure to Thrive (FTT) kid because he wasn’t gaining weight.

Feed the boy:
We began offering my stored supply of milk to satisfy his hunger. Within a few months we had used most of my stored milk despite my effort of pumping while I was at work. I would pump approximately ten ounces of milk during my 14 hours away from the house, and he was drinking twenty or more ounces in my absence. I panicked.

What does a mom do when she feels like her milk isn’t enough? She offers other types of nutrition. Well, Mr. Will would not have it, any of it. PediaSure, powders, ready-made formulas…none of it. I consumed pro-lactation supplements, teas, brownies, cookies, and pumped my ass off. I’d increase my supply by an ounce or two, but that wasn’t enough. The stress of trying to unravel the neurological mystery was not helping matters. From the time he was seven and a half months old, I stayed awake into the early hours of the morning researching Will’s symptoms. My father told me when my stepmother was diagnosed with cancer, ‘when something like this threatens to take something precious from you, you learn everything about it. You become an expert; you become their advocate.’ That is exactly what I did. The more I learned, the more I worried. However, the more I learned, the better my questions became, the stronger I felt holding conversations with what became Will’s team.

Our special boy’s neurological symptoms were worsening:
As Will’s symptoms continued to worsen, we asked our medical team about his weight and nutrition. We went to see a pediatric gastroenterologist, and he recommended a g-tube for supplemental nutrition. He didn’t think it was something we needed to do right away but thought that we could give Will extra breastmilk overnight to boost his calories. My brain began to turn; the nurse in me thought long and hard about this g-tube business. The purpose of this invasive surgery is to give nutrition to people who cannot consume enough calories by mouth or not eat/drink safely. If the purpose of this was to give Will an extra twelve ounces overnight (that was what the GI doctor had recommended), could we not exhaust other noninvasive ways to support Will? I offered him lobster, ice cream, rotisserie chicken, avocado, and anything else we could think of giving him during the day. His weight improved incrementally, he also grew longer; he was growing. Then, he ended up being prescribed prednisone for encephalopathy, and his appetite increased more. He was eating most of what we offered him. We decided to cancel our surgical appointment and see how Will did with nutrition for a month. We traveled to Philadephia’s Children’s Hospital (CHOP) and met with the Leukodystrophy team. They agreed that we should wait on having the surgical procedure and try to adjust his nutrition before going under the knife. We felt relieved that our feelings were validated by the doctors at CHOP. So, for now…no g-tube.

Mother’s Groups on Social Media: The AAA for whatever you need.

Advice on sleep, feeding, vitamins, infant swings, car seat questions, emotional support, the mom groups have the answers. Within moments, these women will rally and come to your aide. In this case, it was breastmilk. I had about a week of milk left in my freezer. My hair was standing on end. I need to find a way to feed my baby. I turned to a private group of Facebook and posted my statement: The stress of caring for my fourteen-month-old baby who suffers from a severe neurological condition has reduced my breastmilk supply and storage; I have a week of milk left in my freezer. I posted this statement to Maine New Mamas Facebook Group and Human Milk for Human Babies. What happened after my plea for help was nothing short of amazing.

Our 1st delivery from our MilkLord

Within four hours of posting my plea for help, I had a mom reach out to me and ask where I lived. She had frozen milk on hand and was willing to bring it to my door. I couldn’t believe it. I was thinking, ‘that’s it?’ Within seven hours I had two weeks of milk delivered to my door. Not only did she deliver milk, but she also gave me peace of mind because I was learning that there was help available. This mom became my personal MilkLord. Within moments of meeting her, I learned she was a close friend of a mom I know, so immediately I felt comfortable receiving the milk. Her personal milk quest inspired her to help other women. She has a toddler son and received breastmilk from twenty different sources for her boy! She was so moved by this gift that she committed to helping other women get the milk they needed for their babies. For her child, she received milk from as far as Massachusetts and was part of the milk train that made it possible for milk to be delivered to a child in Camden, Maine. In my opinion, she is undoubtedly the MilkLord for most of New England. Within the next four weeks, I had four other mothers contact me about the stored milk they were willing to share. They delivered to my door. I explained that Will’s condition made it difficult for him to travel in the car and it was some crazy phenomenon we didn’t understand, but horrible to witness.

The gratitude I felt as my baby drank this milk was something I can’t explain with words. What I learned was when mommy needs to feed her baby, the village delivers…And delivers. This bag (pictured below) was brought to me while I was at work in the ED this weekend. My friend’s sister is exploding with extra milk and happily sent some to us. I think this bag weighed about 50 pounds. Incredible.

Women use donated milk for a variety of reasons:

  • Mom is receiving chemotherapy or taking other medicines contraindicated in nursing.
  • Mom’s milk supply is low, or she has stopped producing.
  • Mom has adopted a baby and wanted him or her to receive breastmilk.

Some babies will consume only donated milk; others a mixture of mom’s milk and donor milk; a mix of donor milk and formula; or a mix of all three – mom’s milk, donor milk and formula. There is no one ‘right’ way to feed your baby. Some mom’s donate milk because their loved one refuses to drink the leftover supply. In some cases, women donate milk after they miscarry as a way to process their loss and embrace something positive that came along with their loss.

Obviously, I am a fan of Milk Sharing. But, understand that Milk Sharing may not be the right option for every mother who is in need of an alternative way of feeding her child. I support you in whatever your choices are regarding breastfeeding, donated milk, or formula. Fed is best. The Academy of Pediatrics recommends milk screening to ensure safe milk. Breastmilk is a bodily fluid and can contain trace amounts of medication and also bloodborne pathogens. If not stored properly, the milk can also grow bacteria and if left too long in storage, lose its nutritional properties.

Photography by: Danielle M. Peterson