111) Dear Doctor: a parent to parent letter to my child's doctor

Dear Doctor,
Mother's Day was celebrated just last weekend and in honor of Mother's Day, I would like to write a letter on behalf of the parents who are fighting for the lives of their chronically ill children.  As a mother to a boy who suffers from chronic conditions resulting from a craniopharyngioma, I understand all too well the hardships that face the families who deal with the devastating effects of life-threatening and life-changing illnesses.

Our story of desperation to find help for my son's untreated hypothalamic obesity and hyperphagia is documented in detail in this blog and led to our successful experimentation with oxytocin and a publication of a case report in the JCEM https://www.ncbi.nlm.nih.gov/pubmed/29220529. On the topic of oxytocin's effects on appetite reduction, energy metabolism, weight loss, lipolysis, etc., there exist a good number of basic science (animal model) research, some preclinical studies, but insufficient drug trial studies as of yet. There have been some clinical studies in the PWS population and currently, there are a couple of ongoing oxytocin and obesity studies now (for children at CHOP https://clinicaltrials.gov/ct2/show/NCT02849743 and for adults at Mass General https://clinicaltrials.gov/ct2/show/NCT03043053). We eagerly await the results with baited breath and hope that the results they find will provide more help to sufferers. Please see post #8 in this blog for a selected and non-exhaustive list of some pertinent published papers.

Since I have begun this oxytocin experimentation and blog, I believe that it has given others hope for a condition whose treatment options are poor to nonexistent. Many parents and patients have told me that they have asked for a prescription from their endocrinologists but have been turned down. Most endocrinologists cite "lack of research" but many appear not to know about the important role of this missing hormone.  It's no wonder there is ignorance among endocrinologists since it is not replaced as a standard of care for hypopituitarism and not even mentioned in the Endocrine Society's Clinical Practice Guideline for Hormone Replacement in Adults. https://academic.oup.com/jcem/article/101/11/3888/2764912.  I find it both perplexing and maddening that untreated symptoms (obesity/hyperphagia, social impairment, among others) which correspond almost perfectly with the functioning role of a missing hormone (oxytocin), are totally overlooked by clinical endocrinology in the care for craniopharyngioma patients and others with hypothalamic obesity and hyperphagia.

Although my words are shared here in this blog, I know that other families are also crying out for help and feeling largely unheard.  The families I know who have asked their doctors for help often feel that no help is offered because, well, evidence-based treatment options are not readily available for this condition. When they receive the "no" to their request for an experimental agent like oxytocin, they are told that "there is insufficient research" or "we don't yet know about the safety or long term effects."  I understand the need for more research and I understand the needs for precaution; my sense is that most physicians do not understand that patients and their families are living RIGHT NOW without safety and without health.  To be asked to wait into the future for safe, effective and tested treatment is akin to telling the starving peasants, "let them eat cake."

I ask you, as a physician and a parent, to consider some of the real HO and hyperphagia cases (due to craniopharyngioma). The four cases below contain actual details of real cases but the identifying information (gender, age) has been changed.

Imagine that this was your own child:

1.  You lock up all of your food for fear your child will eat continuously due to his hyperphagia. Even small kitchen appliances are locked up (such as can openers) lest he find food left out. One day, a can of beans is accidentally left out.  Your child finds the can of beans, attempts to open it by smashing the top against the sharp corner of the kitchen counter, pierces a hole in the top, pries the rest of the can open with his bare hands, and cuts his hands deep enough in the process to require stitches.  Every last bean was eaten before his cut hand was discovered.  When you ask him why he hurt himself so badly over it, he says simply, "because I was hungry, mommy." You ask him to promise you that he will never do it again.  He looks down and shakes his head but cannot make the promise.

2. You lock up all of your food for fear your child will eat continuously due to her hyperphagia.  Your child is obese and gaining weight steadily despite a very stringent and healthy diet. One night, she successfully picks open the lock on the freezer and you wake up to find her gnawing on a frozen and raw chicken breast.  You are also required to lock up garbage to be mindful of the food waste that is thrown away for fear that it will also attract your hungry child.

3. Your young teenager has suffered for most of his life with hyperphagia and obesity and is finally taken out of public school because his school continues to fail in keeping him safe from food.  Too many parties at school, tossed food in the garbage cans, and unwatched lunches belonging to other children, are strategically and stealthily snuck by your child.  He has stolen money from you and has stolen food from stores. You are required to quit your job so that you can stay home to home school your child.  The loss of income and the stress on your family is felt by all members of the family.  Your marriage and mental health suffer. Your teen reports that he is suicidal over the loss of a normal life.

4. Your child suffers from rapid weight gain but does not have an excessive appetite. Still, no matter how strict her diet, she cannot lose weight. She has become so obese that she cannot find clothes that fit her properly.  Her obesity has caused her to have difficulties walking.  She comes home from school crying every day because children are cruel.  She eats lunch alone in the bathroom to avoid their tormenting stares. She is bright but her grades are suffering because she has become increasingly avoidant and often refuses to go to school. She tells you that she cannot face the children at school because she is "fat and ugly."  Your child is only 10 years old and you are terrified of how much worse it will be when she becomes an adolescent.

What would you do if your child experienced what I described above?  If nothing exists now to treat hyperphagia, would you wait for medical science to find the effective treatments and for FDA approval? Or would you hasten medical science and consider alternative treatments, even if novel or experimental?

Most parents I know who are living through these gut wrenching situations are willing to do anything to save their children from the hellish circumstances that accompany HO and hyperphagia.  I know that scientific inquiry takes time and that it is important to investigate the efficacy and safety of drug treatments.  I don't expect a physician to apply treatment to a patient without knowing the safety, side effect, and therapeutic efficacy profiles of the drug.  I only ask that when sitting with your patients and their families, please be sensitive when refusing a novel treatment because "there's insufficient research to ascertain safety and efficacy" when your patient's currently lived experience is already the farthest thing from safe or effective. Out of respect to the families, please consider what you would do if it were your child suffering before you dismiss their request for a novel intervention such as oxytocin. If you are not conversant on the existing research, please read it and consider the pros and cons on prescribing versus withholding treatment.

Thank you.

110) Finding balance in our circus act of life

Ordinary life sometimes feels like a circus act.  Trying to manage all the complications of complete hormone loss DEFINITELY feels like a circus act! In our case, when I realized that some of the therapeutic effects of chronic oxytocin treatment wear off over time, I started to experiment (again) with finding an optimal dosing schedule. We have done a 10-day washout, then added OT back on a daily dose (and saw weight loss again), then went to intermittent every 3-day dosing (which stabilized weight for a while), then returned to daily dosing again (because he started regaining weight again).  This experience feels like the act where the circus artist is trying to keep his balance in roller skates while standing on a board that is rolling back on forth on a cylinder... can we find a way to keep oxytocin's therapeutic effects (stable weight) without causing drug tolerance? So far, his weight is wobbling up and down and is staying in the same weight range (give or take 0.5 to 1 kg) in the last two months. He looks healthy to me and it’s certainly possible that weight gain and resultant higher BMI in the last 6 months (to 24.8, the 90th% at 6 feet tall and 183 pounds or 183 cm and 83 kg) now can partly be attributed to his broadening shoulders and more muscle mass- see for yourself:

To make things more complex (and you know those circus artists always keep adding more complicated things to their acts), we decided to test his ability to handle himself with increased food freedom by rewarding him monetarily for his honesty.  First, a little background: even though the oxytocin/naltrexone has been helpful in decreasing his hyperphagia (intense appetite drive) which has permitted us to unlock our kitchen and stop policing him in the home, we still had episodic reports from school that Sasha continued to sneak sweets.  My case report references this as “hedonic food seeking continued in the absence of homeostatic hunger” or something to that effect. The incidents were largely opportunistic; there are often treats in the classroom and Sasha's lower carb lifestyle (dating back to before we ever started oxytocin) has dictated (in his IEP) that he is restricted from indulging in the cookies, cakes, and candies that are often sold or available at school. No fair! I can only imagine how hard this has been for him and it’s no wonder he has resorted to sneaking or grabbing these foods when he felt he had a chance to take them. These food restrictions harken back to the pre-oxytocin days when he was stealing food left and right. "No fair" is certainly true but more important than fairness, we felt that restricting him from sweets was possibly causing him to feel deprived, and causing him feel the need to steal them. Given that we do not want him to continue these behaviors or have to always keep him under scrutiny around sweets or even worse, never give him a chance to become independent, we knew we had to do something.  Ultimately, if Sasha is ever to be come an independent adult in the real world, he will need to learn how to handle himself around all types of food.

At 15 and with only a little more than three years to go before graduating from high school, we decided that we could no longer afford to protect him from sugar.  We decided that it was preferable for him to be "fat and free" rather than "thin and in(carcerated)" and that he absolutely needs to stop sneaking or taking foods that do not belong to him, period.

In case you are wondering about his food; his eating habits at home continue to be about the same as it's been in the last few years.  We keep to a relatively low-ish carb food plan: we eat mostly unprocessed whole foods (high fiber vegetables, meat, eggs, dairy, nuts and seeds, legumes, whole fruit and eat a modest/low amount of whole grains like whole wheat bread, oats or corn).  The main thing we do not keep in the house is processed snack foods or anything with added sugar (with some exceptions like a birthday cake or ice cream for a special occasion).

With the roller skate-wearing-balancing-on-a-board-balancing-on-a-rolling-cylinder act, now we introduce some juggling balls... we have designed a new plan and have given Sasha a goal with a reward.  The goal is to steer totally clear of touching or taking anything (usually high carb foods).  The reward for not stealing food (or trying to cover up or lie about it) is to earn $1 per day for each day of honesty.  The punishment for stealing (and lying about it) is a fine of  $10.  The punishment for merely stealing (but admitting it right away when confronted, no lying) is $5.  There is no statute of limitations so if we receive a report even weeks later, he will still be fined- the fines comes from his savings so each day is a fresh start and he still can earn that dollar if he keeps himself honest.  Also, we have let him know that even suspicious behavior (wandering or loitering uninvited into a room with food, for example) will be counted against him.  In other words, he needs to be totally transparent and behave with vigorous honesty so as not to raise any suspicions. We check in with his teacher (who has his aides make notes on paper every day) at the end of the week for her report.

We've been doing this for about three weeks now and so far, it's going well. He had one slip on the weekend with a family friend (took some food from her but admitted it right away = minus $5) but no actual reports of stealing at school, yay! His teacher reports that he does seem to circle around food to check it out but does not get close enough to touch it. Now for the first time ever in his life, the deal enables him to possess money to spend on... anything he wants. Of course, this means that he can purchase cookies, candy or whatever they sell at the (frequent) bake sales at his high school.

As far as we know, he is taking advantage of his new found freedom and has been seen eating cookies in the morning but as far as we know, it isn’t daily and the cookies are purchased with his own money. I can only hope that the novelty of the cookie buying power will wear off and that he will be able to practice some self control if his weight begins to rise out of control again. “Hope” is the key word here, of course, since I have little control over him now and will definitely have no control when I’m dead and gone. Better to start now training him and take the risks (obesity) than wait until he is 18 and old enough to be prosecuted as an adult for theft. Like I said, better fat and free than thin and in(carcerated)!

You can see how these new juggling balls can complicate the roller skate balancing act. He may very well gain weight and we won’t know how much is due to the limitations of oxytocin versus his ingestion of too many cookies. Oh, well. As much as I would like to have a tightly controlled study environment in a closely supervised and locked laboratory setting, we don't have that and can't have that because it is not real life. For better or worse, we have to prioritize our parenting experiment over our oxytocin experiment.

Life is like a live circus act... there are no guarantees that life or the show will go as planned. Now we are practicing for the removal of the "safety net" and just hope he doesn’t hurt himself too badly when he falls. I suppose we can replace the net if he demonstrates that he can't handle life without it but we have to take it down sooner or later and we owe it to him and to ourselves to see if he can handle it for the sake of his development into a trustworthy, independent adult.

First train the kid with the net, then remove it and hope for the best. Isn’t that what parenting is about, after all?

109) Calling all caregivers, how are you?

This is a post dedicated to the caretakers/parents caring for a family member/child with chronic and/or life threatening illness.

How are you doing?  How are you feeling? How has life been treating you of late? Yes, YOU.

As a caretaker/parent, I don't think we have enough people inquiring into our emotional welfare and asking us these important questions (and sticking around long enough to truly LISTEN to the answer) because we are expected to be resilient and capable (plus the lives of our chronically ill loved ones depend on it). Even if we had someone sincerely asking us these questions, it becomes so hard to answer. There is fear that the answer won't be understood and will result in intensified feelings of alienation, or that it will be judged, or that any words we find will fail to describe the complexity of the experience of caring for a person with chronic and/or life threatening conditions.

In my work life as a clinical psychologist, I truly love my work and feel privileged to be entrusted with the innermost thoughts and feelings of my patients. I specialize in working with adults with severe trauma (mostly childhood abuse and neglect) so witnessing and holding their pain can be a heavy burden. Even though I am a professional, I'm sure it has taken a toll on me over the past 25 years. In spite of the challenges of working in a profession that is intimately involved in witnessing and trying relieve the intense suffering of others, I would still say that "I go to work to relax."

In my home life as a cranio mom, like many of you, I deal with the stress involved in the high maintenance care of managing my kid's chronic health problems and overall functioning. To prove my point, I could provide a long list of all the tasks my husband and I do to keep him alive and optimally well but I am tired (right now) from doing them ad nauseam day in and day out and listing them will make me feel even more tired (so I will spare us all but perhaps you know the list or have your own hellish version of that list). As equally (or even more?) difficult as dealing with the known daily challenges, is the disquieting anxiety that weighs in my mind about his unknown future (what happens after high school, what would happen to him if we weren't here to do what we do to keep him alive and well, will he ever be able to live independently, what will happen to him after we die?)

What is the toll of being a caretaker for a loved one with chronic illness? There is of course the toll on our resources- namely energy, time, and money. There is only a limited amount of resources one has and when so much energy has to be devoted to keeping a chronically and/or acutely sick child alive and optimally well, there's little leftover to be enjoyed. We are 6.5 years into this journey and man, it is a marathon!

Besides the obvious drain on these resources, there is also an impact on our own mental and physical health. Although I choose to take care of my son because I love him and will do everything in my power to provide the best life for him, I would be lying if I told you that it always puts me in a good mood. Hah! Sometimes I catch myself feeling and behaving very irritably because I am exhausted, cranky to the core, and resentful in my reluctant role as a (lame) understudy for his front lobes, pituitary gland and hypothalamus. Those of you who have a kid with poor executive functioning, poor memory, no hormones, and a non-working thirst mechanism will understand what I mean! And this is our life AFTER getting the benefits of oxytocin for his HO and hyperphagia. I am very well aware that we are very fortunate to no longer have to deal with the incessant hunger pangs, food stealing, and the resultant lifestyle of food locking and policing. Our lives were WAY harder before oxytocin but it is still far from easy.

Circling back to my original question, "how are you", I think one of the biggest tolls of special needs parenting/caregiving is the impact on relationships. If one is partnered or married, there is hopefully another parent/caregiver present to share the responsibilities of caregiving but the division of labor with caretaking duties are often not fairly shared between partners. If so, resentments may build up and the tenuousness of an already strained relationship can cause that relationship to falter and fail in the face of the daily stressors of special needs parenting/caregiving. Some marriages form stronger bonds in the face of these crises while other couples default into becoming mere co-parents to their special needs kid. The entire family's dynamics are bound to become affected by the "identified patient" (using a family therapy term) and siblings of the ill child may get lost in the shuffle and have to find their own way while their parents busy themselves with keeping their ill child alive and optimally well.

In my role as a caregiver, I have found myself becoming increasingly isolated from friends. As an extrovert, I have always put a lot of importance in my friendships and social life. Before he was diagnosed with the brain tumor, we had a very active social life with our many family friends. Over the years, I have let many of these friendships dissolve. A major reason for this was due to our need to protect Sasha from eating to excess (before we discovered oxytocin). After years of turning down social invitations from friends, many of these friends stopped inviting us, and who can blame them? Although the food issues played a significant role in our diminished social life as a family, I can't blame it all on the food. I must admit that I have isolated myself because having a child with Sasha's problems has made it painful (at times) to be around his (healthy and typical) peers and their parents. Poor social motivation for peers on Sasha's part has also increased his (and our) isolation since he has become more and more an outsider as the years have gone by. When I see his peers develop in normal and typical ways, it reminds me of what Sasha could have been had he not been sentenced with craniopharyngioma, and it makes me sad. I still have hope for Sasha and will continue to do what I can to optimize his life and future but I can't help but feel grief when I consider the healthy life he no longer has. I guess you could say that seeing his peers and being around their families fills me with a longing that I don't wish to feel. Avoiding these friends isn't the answer, I know, but I guess it's something I've done to cope with our circumstances, for better or for worse.

I am writing for myself to explore the emotional impact of living as a caregiver and to share these thoughts and feelings as it helps me feel less alone. I'd also like to invite my readers (you?) to share your thoughts and feelings about being a caregiver. If you've been feeling cooped up with your thoughts and feelings and want to share about your experiences as a caregiver, feel free to do so. Maybe it will help you feel less isolated, too?

So... how are you doing? How are you feeling? How has life been treating you of late?