Treatment

Miglustat by Mouth and not in a Capsule

Dear GM1 Parents,

I want to share something with you that your doctors might not tell you.  Miglustat tastes like vomit.  Really.  For many children, even ones who do not have dysarthria or difficulty controlling their tongues, it’s impossible to swallow a pill.  Iris is not able to swallow pills and for now, the only way to deliver the medication is by mouth.

We originally tried to teach Iris to swallow pills.  We went out and bought sugar-free tic tacs and we bought several special cups that are supposed to help people swallow pills.  The tic tacs just rolled off her tongue and out of her mouth.

Standard parental advice would be to mix the medication into apple sauce or peanut butter or a food item so you can use to mask the flavor.  Standard parental advice does not apply to a truly strict ketogenic regimen.  Applesauce, nope.  Peanut butter, nope.  Bacon, definitely.  Actually, Iris does not like bacon…The taste is bad enough that you need a lot of the food item to mask its horrible flavor.

We were faced with a very difficult question: How do you get your child to take a medication two or three times a day orally when it tastes just awful?  In our case, the simple answer is that you don’t.  We absolutely had to come up with a magic way to get Iris to drink the medication.  So, here’s our formula:

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  • Sugar-free lemonade.
  • 1 teaspoon of Cal-Mag/CALM
  • A few squirts of liquid stevia

The sugar-free lemonade is the base canvas to mask the taste.  Try the ones with stevia first.  Our doctors told us to avoid aspartame if we could, but honestly, the aspartame ones taste better.  Given the choice between not being able to administer the medication at all or using aspartame, we had to switch back after trying stevia lemonade.

The Cal-Mag is a calcium magnesium supplement.  We use it to help with calcium supplementation due to the ketogenic diet for two reasons.  Iris can not have milk and other sources of calcium as much as one might normally.  Iris does love zero carb cheese though!  Also, the magnesium helps with digestion/regularity.  Lastly, the CALM has a raspberry stevia flavoring.

The liquid stevia is used to put the sweet taste over the top.

All kids are different!  I can not promise this will work for you, but it is how we manage.  A colorful and fun straw also helps. Oh, and a cute cup.  Good luck!

Treatment

Clinical Trial

Iris is currently participating in a clinical trial.  The clinical trial is a regimen of a medication called miglustat (Zavesca) in combination with the ketogenic diet.  All the other clinical trials are either observational only or involve bone marrow transplant.  The one team we spoke to with respect to a bone marrow transplant required asymptomatic patients.   Unfortunately, Iris is not in that category of patients.  For our family, we are also not sure we would have chosen that path.

Miglustat is FDA-approved for Gaucher disease, another lysosomal storage disease that affects the brain.  The basis of the trial is threefold.  Miglustat is believed to possibly be more effective in combination with the ketogenic diet, perhaps as much as 300% more effective.  This belief is based off a single research study in rats.  The ketogenic diet is also used to control seizures.  Many GM1 patients suffer from seizures.  As of now, Iris is very fortunate to not have seizures.  The diet is also used to mitigate the gastrointestinal side effects of miglustat.

To be clear, some clinical trials are successful and some are not.  There is a reason it is called a trial.  Furthermore, this specific protocol is not universally accepted.  We are very happy to participate in the trial.  There’s really nothing else to try.  We are hopeful that the regimen is helping Iris.  However, it’s not a cure.  Hopefully, it’s a way to buy time until a true cure or another treatment emerges.

In our own experiences with the regimen, Iris did cease toe-walking after initiating treatment.  However, we had also increased physical therapy at the same time.  We thought that her walk possibly improved.  Then, other symptoms emerged.  Her gait changed in different ways and not for the better.  We also thought that her speech might have improved for a bit, but that also can come and go.

There are 2 aspects of the trial that have clear evidence.  Limiting carbohydrates does relieve the gastrointestinal side effects.  The ketogenic diet is proven to help some people with seizures.  It’s been used for quite some time for that purpose separately from this particular study.  In general, there are so few patients to verify results.  It can also be difficult for the patients to participate in studies in distant locations.  Some other GM1 families told us the regimen helped their children, but the evidence is primarily anecdotal at this point.

Technically, Iris is in ketosis, so the diet she follows is ketogenic.  However, we achieve ketosis through the Modified Atkins diet.  This is a different approach from the more complicated true ketogenic diet involving ratios of fat and protein and calorie counts.  So far, we have been fortunate because Iris seems to be able to tolerate Modified Atkins.

She is allowed 15g of carbohydrates a day.  To put that in perspective, 1 teaspoon of sugar has 4.2g of total carbohydrate.  All the carbs Iris consumes are from fruit and vegetables only.  Yes, vegetables have carbs.  Low carbohydrate is not the same as gluten-free.  This means there is basically never dessert at our house.  There is no bread basket.  There are no ice cream sundaes, no Halloween candy, and no chocolate bunnies.  There is not even true birthday cake.  There are ketogenic cream puffs.  If we make any sweet at all, it is prepared using a sweetener such as Stevia.  The ketogenic diet can cause weight loss and that’s the last thing GM1 kids need.  To avoid weight loss, the diet incorporates lots of fat to balance the absence of sugars or carbohydrates.

Iris’ brother Carter has known the word “carbohydrate” since he was 3.    Iris has followed this regimen for nearly a year by mouth.  Some other children have feeding tubes and use a keto liquid formula or a blenderized diet.   We travel with our own food and snacks always.

It is very difficult to establish indisputable evidence that the treatment is effective.  Once a course of treatment is established,  one can not know the road not taken.  One world specialist in GM1 went as far to say that if it were possible to extract the brains of the patients and analyze the brain in a  petri dish, it would still be hard to measure the success of the treatment.  Another doctor told us that short of a complete miracle and reversal of all symptoms, there can be many gray areas.  I don’t know of anyone who experienced a complete miracle, i.e., a cure for GM1, but we sure would love one!

Diagnosis

Diagnosis Day

A neurologist, a tall man with sandy brown hair and sympathetic eyes,  whom I had just met for the first time,  patted my arm reassuringly.  Unable to control my grief, I sat with tears streaming down my face, choking out the details of our diagnostic odyssey.  While listening to Iris’ medical history,  the neurologist sat with his head against the wall, seated on the examination table, listening attentively and silently.

The details of the prior misdiagnoses seemed to weigh heavily on the doctor.  He sunk further into the wall.  He took long blinks.  We were told, the misdiagnoses we had received were all too common.  A year before, we had been told by another neurologist that nothing was wrong and testing was not merited.  We had been told by a developmental pediatrician that Iris had mild athetoid cerebral palsy.

A geneticist was also present throughout the appointment.   Ironically, I can hardly remember our interactions with him.  His colorful tie and the distinct level of respect from his colleagues come to mind.  He promised to connect us with the best GM1 specialists in the country.  A genetics counselor was also present who listened attentively.  When the doctors left for their next appointment, naturally, the counselor stayed and counseled me in a soft gentle voice.  I have nearly no recollection of what we discussed.  I think I mumbled to her that would likely have to get a new house because our current house is not handicap accessible.

Finally, a social worker entered the small examination room and introduced herself to me.  My mind was racing.  My hands clenched a crumpled piece of paper with my questions for the doctors on it.  Somehow those questions on the paper seemed so inconsequential.  I felt small for telling the doctors I wanted to do whatever they would do for their own children.   It felt as though they had heard the same comment from every other concerned parent of a child with a horrible diagnosis.  Every parent wants the best possible care for their children.

Our previous neurologist, a kind, gentle woman with a small private practice had referred us to this large clinic at an esteemed university.  The new neurologist and geneticist at this large clinic were to be responsible for the confirmation of Iris’ diagnosis.  For a “big time” disease such as GM1 Gangliosidosis, we were told our health insurance demanded a confirmation from another doctor.

We had been given the devastating diagnosis just the day before in the female neurologist’s office.  My husband called me from that appointment while I was at work.  He told me that he might not even be able to drive the car home because he was having difficultly breathing.  For me, the news had not sunk in.  I ran through the mental gymnastics of how I would get to the doctor’s office and not have to leave a car behind.  I did not even attend that particular appointment.  We thought it would be just another appointment, the same as all the others.

At the appointment before the diagnosis, we had been told not to be overly concerned.  We were told that the chances of a very serious diagnosis were extremely low.  Despite our utter disbelief and total dismay, our sweet girl just happened to be that incredibly rare, rare case.

Announcements

Welcome to the Sweet Iris Blog!

We are sharing Iris’ experience with GM1 for the first time using social media.  It’s a brave new world and here we go!

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I love my daughter Iris deeply and I would do anything for her.  I want to share her story and to raise awareness for GM1 and rare diseases.  Honestly, I’m still dreaming of a cure.  I’ve been told that it would be better to be realistic and to just accept the terminal prognosis.  I understand the reasoning behind that advice.  We know the odds.  Daily, we try to preserve our family’s quality of life.  We are also absolutely dedicated to ensuring Iris is as comfortable and happy as possible.

Perhaps this blog will be a personal therapeutic outlet, yet also helpful to others.  Perhaps, there can be meaning in this utterly devastating twist of fate.  I hope that by sharing our story, we will be a resource to the newly diagnosed and to the families of those who suffer from GM1.  Welcome and thank you for reading!