We are headed to CHOP for the 6-month follow-up visit with the research team in January. It has been six months since we started Baricitinib and we will have PT, OT, and neuropsych tests done to measure changes in Will since starting the medication. Will has made slight progress in his movements, but mostly we notice that he is happier. He still cannot sit, roll over, or accurately reach for toys consistently. He is non-verbal and cannot communicate his needs with us.
We have ramped up the physical therapy sessions and asking for two sessions/week whenever we can get on their schedule. We had a follow-up visit with our neurologist in Maine, and he didn’t realize that we were not doing speech therapy yet. We have tried to find a speech therapist but haven’t been unable to find a practice in Maine that can treat Will. We have heard, ‘we don’t have what we need at this practice to provide therapy.’ Early Intervention therapy (for children under 3 years) in some states provide therapies in the home, but Maine does not. Maine’s Early Intervention program has adopted a “coaching model” but does not provide direct care to children…this has been a huge source of frustration for myself and many other families.
Our neurologist called a practice in Portland that provides augmentative speech therapy evaluations for children and asked the provider to see Will. Typically children 3 years and older start this type of speech (assisted and augmentative) therapy in a developmental preschool setting. In the meantime, Will needs therapy to work on the building blocks of communication. It has been 21 months since we started Early Intervention here in Maine and we are finally getting plugged into a practice that can appropriately evaluate Will’s communication needs. It would be ideal for Will to get some of his intensive therapies at the same place. Ideally, I’d like to find two therapies in the same building (OT and Speech). We may have to drive 45 minutes for combined therapies, I’m waiting to learn more about the practices in Southern Maine.
Will enjoys when we take his hands and explore with him. At a restaurant, he likes when I grab a crayon and color while bringing his hands along for the activity. He cannot grasp an object by himself anymore; the neurological insult robbed motor planning from him. He likes when we fill the dump truck with colorful items and then dump them on the floor. He also likes it when I put a snack in his hand and help him reach his mouth. The delight he exudes when he takes a bite catches us both by surprise. For Christmas, Will is going to get fat crayons and a sketchbook!
He is thriving!
Will is close to losing his Failure to Thrive diagnosis. He lost weight during his 10 months of not feeling well, battling neurological flare-ups, etc. I kept saying, ‘when he feels better, he will eat.’ Well, we are making progress because he feels better. Someone said, ‘what are you going to do if someone reports you to DHHS because you won’t allow them to surgically insert a feeding tube?’ Well, here we are: gaining and thriving!
We haven’t done any traveling other than hospital visits over the past year. I miss my family; it isn’t like me to go long periods without a trip to Pennsylvania. Airline ticket prices are obscene, and it’s prohibitive to fly the kids to see my parents. Worse, is worrying that they have overbooked a flight leaving a family like ours scrambling at an airport. Hopefully, we can make a trip happen next summer, even if we have to drive. Speaking of driving, Will allows me to drive him about 25 minutes without crying now. I can go to the grocery store, drive to Falmouth for appointments, and even pick up the kids at school.
Many of our friends helped during the time when I was mostly homebound with Will. Our friends would bake us treats, bring lasagna and mac n’ cheese, and Will’s favorite food with crackers: guacamole! Our village never ceases to amaze me. Even our mailman goes out of his way to help make life a little easier for us, he always asks ‘How’s Will?’ Will has shown me the value of slowing down and checking in with people, being more present.
Our extended family: Scott, RN
We have been blessed with the most amazing registered nurse. When I work, Will is cared for by Scott. Scott has been a nurse for 33 years. He has been a NICU nurse, a Nurse Director, Associate Director of Pediatric Surgery and Anesthesia, Divisional Director of Nursing Services…worn so many hats. He also works per diem at the state prison in Maine. This guy is a sweet as he is intelligent and after a breaking in period, Will gave into the idea of being cared for by someone other than Justin and I. They have become great buddies. It’s such a relief to know that Will is in good hands and happy while I’m gone for my shifts.
Thank you for following along. We are grateful for the friends and family who embrace our journey with us and continually add support along the way.
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.
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.