PSA: Folate Receptor Alpha Autoimmunity

Do you or your child have an autism spectrum disorder?  Do the symptoms include a language delay or other language disorder?  Have you done genetic and other medical testing, but have not yet found a cause for the autism?

If you answered yes to all of these questions, you may want to consider testing for Folate Receptor Alpha Autoantibodies (FRAAs).  Links with info about this test are at the bottom of this post.  Emerging research indicates that FRAAs can cause autism spectrum disorders with language impairments.  FRAA testing is potentially important because for people who test positive, there is a treatment that can improve or even eliminate autism symptoms.  The best part is the treatment is just high doses of folinic acid, a B-vitamin similar to folic acid (but there is a difference, and it matters!).  Folinic acid has an excellent safety profile, and is available in lower doses over the counter, and in higher doses as a prescription called Leucovorin.

So what are FRAAs?  Your immune system is constantly producing antibodies to fight off foreign invaders like bacteria and viruses.  Antibodies are why when you get a cold, it doesn’t last forever and eventually you get better.  However the system is not perfect, and sometimes (for unknown reasons) the immune system produces antibodies that attack parts of your own body, creating problems.  These are called autoantibodies.  Autoantibodies sometimes show up in healthy people, but high amounts of certain autoantibodies can cause diseases collectively known as autoimmune diseases.  These diseases span a wide range of problems, but they share a common cause: your immune system fighting a healthy part of your own body.  For example, I have autoimmune hives.  This means my body produces autoantibodies that attack my own skin, causing itchy rashes that look like an allergic reaction (but the allergen is my own skin).  Rheumatoid arthritis and Lupus are other examples of autoimmune diseases.

Emerging research in the last decade indicates that for some individuals with ASD, there is an underlying autoimmune cause.  Specifically, FRAAs are autoantibodies that attack Folate Receptor Alpha, and they come in two flavors called blocking and binding.  Folate Receptor Alpha’s job is to transport folate across the blood-brain barrier and into the brain.  Folate is critical for brain development, and folate starved brains can show autistic symptoms and delayed language development.  Too little folate in the brain is called Cerebral Folate Deficiency (CFD), the symptoms of which overlap with ASD.  In children with ASD, language delay, and no identified genetic cause, around 60-75% test positive for FRAAs.  20-30% of their parents will also test positive.  In one study, control children who had developmental delays but not ASD tested positive only 3% of the time.  The good news is, a different form of folate called folinic acid can get around this problem.  Folinic acid does not require Folate Receptor Alpha to cross into the brain, instead it can be carried by something else called the Reduced Folate Carrier (RFC).  This path isn’t as efficient, but high doses of folinic acid have been shown to increase folate levels in the brains of people with FRAAs.  In a recent randomized, double-blind, placebo controlled clinical trial (gold standard in medicine) significant improvements were seen with high dosage folinic acid in children with ASD and FRAAs in the areas of reduced stereotypical behavior, increased attention, and increased receptive, expressive, and non-verbal communication abilities compared to controls who received placebo treatment.  This result is considered preliminary though, because the trial included less than 50 children.

There is a blood test for FRAAs.  However, it is currently not approved by the FDA for clinical use, and is considered research use only.  That said, you can order the test for yourself or your child.  It is not covered by insurance, and costs $200.  It takes around 4-6 weeks to get results.   Leucovorin (high dose folinic acid) is also not (yet) approved to treat ASD.  The usual use for Leucovorin is for chemotherapy patients, because it reduces the negative effects of the chemotherapy drugs.  Don’t let that scare you though, Leucovorin is still just folinic acid, a B-vitamin.  Excess folinic acid is processed by the kidneys and excreted in the urine, so it should be very safe as long as the individual has healthy kidneys.  However, the long term safety of Leucovorin for ASD treatment has not yet been studied.  The Leucovorin dosage used in the clinical trials to treat children with ASD is 2mg/kg body weight, up to a max of 50 mg, for 12 weeks.  Children started at half that dose for the first two weeks, and doses were divided in two (1/2 given in the morning, 1/2 in the evening).  The results after 12 weeks are very promising, but full effects take 1-3 years.  Treatment may need to be lifelong.

Folate levels are usually tested with blood tests, which will not detect this problem because the issue is not the folate level in the blood, but rather the inability of that folate to get to the brain.  The only way to truly know the folate level in the brain is to do an invasive spinal tap.  So if your doctor says you don’t need FRAA testing because your blood shows adequate folate levels, your doctor is wrong (this happened to me).  Studies indicate though that patients can skip the spinal tap, and if blood tests are positive for FRAAs, it is probably safe to assume the spinal tap would show low folate levels and proceed to treatment.

If you have read this far, you have probably guessed by now that I had my daughter tested for FRAAs.  She is positive for the blocking type, at high levels.  We began Leucovorin treatment this week.  This is the end result of months of fighting for this, including switching doctors to find someone willing to order the test and prescribe the treatment.  The Leucovorin is now being compounded every two weeks, special for her, by the hospital pharmacy.  I am now going to test myself as well, because lower levels of FRAAs can cause other symptoms including anxiety, pregnancy complications, and preterm birth (kiddo was preterm).  I wrote this explanatory PSA post after reading almost a dozen medical papers on this topic and personally reviewing the evidence.  I found it so compelling that I fought hard to make this happen for my daughter.  Now I’m hoping I can spread this info and help other people as well.  Like most ASD treatments, Leucovorin treatment is more effective the younger the patient is when they start it, so don’t delay!

Below are links with more info for anyone who wants to pursue this testing and treatment for themselves or their child:

Interview with doctor leading this research that explains it well: http://www.nofone.org/dr-frye-q-and-a-folinic

Information on the FRAT test to detect FRAAs: http://iliadneuro.com/Information-on-Frat.html

Clinical trial reports: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578948/

http://www.nature.com/mp/journal/vaop/ncurrent/abs/mp2016168a.html

 

 

 

 

 

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Vaccines DO NOT cause autism

I can’t believe I am writing this. I can’t believe the vaccines and autism thing is back, again. But President-elect Trump has repeatedly endorsed this false claim, and even met recently with Robert F. Kennedy Jr., a noted proponent of this idea, about the possible creation of a new anti-vaccine arm of the federal government.

In case someone reading this doesn’t know the facts: Vaccines DO NOT cause autism. There is no scientific or medical controversy about this. It is unequivocal fact. The original paper that claimed a link appeared in the Lancet in the late 1990’s. It later turned out that the data was fabricated, the paper was retracted, and the lead author was stripped of his medical license. The issue was studied further, and multiple large studies show absolutely no link and confirm that vaccines are incredibly safe. It’s just plain not true.

Bad science claims often have teeth. They cling on in the public consciousness for extended periods after being disproven within the scientific or medical communities. The vaccines and autism one is particularly bad. In some areas of the U.S., vaccination rates have fallen sharply due to this mistaken belief, causing cases of things like mumps and whooping cough to drastically increase. When my daughter was born, I worried a lot about whooping cough because at the time I lived in an area with decreasing vaccination rates due to false autism fears. Whooping cough is pretty harmless to healthy people, presenting similarly to a bad cold. But in newborn infants or people with weakened immune systems, whooping cough can kill.  The whooping cough vaccine is not safe to give to these populations, meaning they must rely on others to vaccinate themselves. Every parent that chose not to vaccinate their child because of a false belief they might get autism increased the chance my premature baby might die. Of course I insisted that all of my family receive the vaccine, including extended family that might visit, and I vaccinated my child as soon as it was safe to do so at age 2 months (this is the age of the first dose, but subsequent doses are also needed).

If you are a parent considering skipping or delaying the DTaP for your child (the one that prevents whooping cough, along with tetanus and diphtheria) or any other vaccine, consider that your actions might kill someone else’s beloved newborn baby. Your child might kill a baby just by coughing near him or her in a grocery store and never even know it. The threat is very real, and vaccines are clearly very effective and life-saving. According to the CDC, before the DTaP vaccine approximately 8,000 people died from whooping cough every year in the US, most of them infants. In the period 2000-2014, 277 died from whooping cough (241 of those under 3 months of age), for an average of around 19 people/year. That’s a huge improvement over 8,000, but this important progress is being undone by Mr. Kennedy, Mr. Trump, and parents who listen to their vaccine hysteria.

I find all of this especially scary and insulting as the parent of a child with autism.  I have been asked by complete strangers if I vaccinated my child and if that’s why she has autism.  Of course my child is fully vaccinated. To do otherwise is extremely irresponsible. And no, it has nothing to do with her autism. She would have autism whether she was vaccinated or not, but at least with the vaccines she won’t have autism AND the mumps. And thanks to me and parents like me, your child is less likely to get mumps and your baby is less likely to die from whooping cough.

For the love of God or whatever you find holy, please please please vaccinate your children. There has never been a clearer moral parenting choice. Any controversy on vaccines is 100% fabrication, and any doctor, politician, or other authority figure who says otherwise should be considered untrustworthy.

Stimming

Stimming is autism terminology for self-stimulatory behavior, or anything that autistic people do to stimulate the senses that they find soothing or enjoyable.

My daughter has a number of stimming behaviors that we see on a daily basis.  For example, she often spins in circles reciting the alphabet, or bounces up and down on her heels while counting.  When excited, she rocks back and forth rapidly.  When sitting down, it looks like she is energetically rowing an invisible boat.

My husband and I very much subscribe to the idea that stimming is not to be discouraged, but rather accepted as part of who our daughter is and even celebrated.  Stimming helps her calm down when she is bombarded with too much sensory input.  A common misconception about ABA therapy is that the therapists will punish or prevent stimming, but our experience has been that the therapists accept and wait out stimming behaviors.  Her therapy team is completely on board with our attitude.

The exception to the rule is when stimming becomes self-harming, which is unfortunately common.  In my daughter’s case, she used to bang her head against the wall when she was tired.  We did discourage that behavior and it has since naturally stopped.  In the past few weeks, a new behavior has emerged.  She now smacks herself in the face, usually in the forehead area.  She even leans into the hits.  I am torn about this, because she doesn’t seem to be causing any viable damage (skin looks normal) and I doubt she is hitting herself hard enough to cause any internal injury.  But if I allow this to continue, who knows what it might turn into, plus it’s just disturbing to see your child repeatedly hit themselves.  She also has a very high pain tolerance, seeming to not even notice falls and scrapes that would have other toddlers bawling, so I worry she may hurt herself and not notice.  I’m going to ask her doctor about this at her next appointment, but it’s a month away.

Kiddo also enjoys makes lines out her toys, like many autistic children.  I’m not sure if this counts as stimming but I’m including it here because she made some nice lines this weekend and I thought it was cute.  Notice how the boats have been given their own line, and all the airplanes are sorted out in a pile at the back.

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Keeping it all going

No one expects that being a professor and a mom to an autistic toddler is easy.  It really isn’t, but not always in the ways people might expect.

Caring for the autistic kid is actually probably easier than most people think, at least in our case.  Our daughter is very high functioning, and other than some sensory related meltdowns, is a fairly happy kid.  She gets frustrated when she can’t communicate something she wants, but so does every toddler.  In fact, every weekday evening from 5:30-7:00 PM we have our ABA implementers around to help out.  Lately kiddo has wanted to do her ABA therapy in her basement playroom – which is wonderful.  She and the implementer stay down there and husband and I can make dinner and eat together in peace.  This is a recent development, it used to be that kiddo was constantly running away from therapy to me and demanding to be picked up.  So things on that front have gotten easier.

On the work front, it’s summer, so that means no teaching at the moment.  But stress levels are still very high.  As my mother keeps reminding me, I have a proposal deadline coming up. Seriously, when do parents stop nagging you about homework?  Apparently not when you become a professor, at least in my case.  Note to other profs: Do not tell your parents about impending proposal deadlines.  I don’t know why I ever did.

Of course I also have to prep my fall class, get a paper out, advise a student, and a few other things.  Oh, and I’ve recently had my own health scare that is most likely nothing, but has resulted in me having a TON of doctor’s appointments and tests.  Last week I had a cardiologist appointment, a kidney ultrasound, and a cardiac MRI, all of which showed me to be perfectly healthy.  But it’s an extra drain on my time and stress levels, and the docs want me to do more tests, ugh.

So with all this, it shouldn’t come as much of a surprise that some things slip through the cracks occasionally.  This week, I managed to annoy the front office staff of my department because I was supposed to sign a form by a specific date and I went to sign it the day after the deadline.  The deadline was pretty much the same day we got the forms because of the end of the fiscal year.  Apparently they were looking for me on Tuesday to get this signature, but I had some other stuff to take care of on Tuesday and wasn’t around.  So when I talked to them on Wednesday I got comments like “No one ever knows where you are, you’re not around.”  And other annoyed comments.  At first I was embarrassed but then I realized a few things: 1) I’m a professor.  I don’t work for or report to the office staff.  and 2) It’s summer, which means the university isn’t paying me for my time.  Many people may not know this, but professors actually aren’t paid for the summer months unless we find our own money through grants.  So I feel like they can’t really fault me for not being around for a day, after all, I’m still working for the university over the summer without pay from them.  (I did have 1 month of pay from a grant, but 2 months are completely unpaid for me).

Perhaps part of the problem is imposter syndrome, and I certainly have some of that.  It probably doesn’t help that I am female and younger than both of our front office employees, by a decent margin.  In fact I’m younger than some of the graduate students, which can make it a bit awkward if I try to exercise my professorial authority.  Also, I am someone who is very easily embarrassed and I suffer from a high level of anxiety, for which I take medication but it’s still a problem for me.  So for now, as silly as it is, I’m avoiding the front office completely.

 

Autism and Medical Tests

I am a scientist, and I like data.  My attitude towards medical testing has generally been “tests, please!” as long as my insurance is paying for it, anyway.  I want as much information as possible, especially when it comes to my health.

I had an experience yesterday that made me question if this is the best approach.  When my daughter was diagnosed with Autism Spectrum Disorder, we were offered an array of of testing, including an EEG, a brain MRI, and blood tests.  The doc said we could get it all done in a few hours at the hospital, and the kiddo would be sedated through the whole thing.  Our insurance would cover it 100%.  So of course we said yes, because we wanted as much info as possible about what’s going on with out daughter.

Yesterday was our scheduled day of testing at the hospital, and it was traumatic to say the least.  First, she wasn’t allowed to eat or drink for many hours beforehand, which made me anxious because her growth has been poor so I hated not feeding her.  She didn’t seem to mind too much though.  When we got to the hospital, the first thing they tried to do was measure her blood pressure with an ankle cuff, and put a pulse and blood oxygen monitor on her fingers or toes.  All of this made her scream and thrash because she has severe sensory issues with people (especially strangers) touching her hands and feet.  In the end there was a lot of trauma all around and the nurses gave up without getting any of the measurements.

Then it was time for the sedation.  First we did a nasal spray that was quick and easy, and within 10 minutes she was asleep!  Victory!  …… Until the nurses tried to put the monitor on her foot and the EEG cap on her head.  Then we found out just how awake she could be despite the drug.  So they had to go to an IV sedative.  Having the IV placed was terrible.  Just completely awful.  It was a solid 10 minutes of screaming and struggling, and even after the sedative took effect, she was still sobbing lightly in her sleep state.

The EEG and MRI were normal.  Usually, this would be a cause for celebration and relief, but instead I feel like I put my daughter through a lot of trauma unnecessarily.  The good news is that according to the doctor, the sedative she was given means she shouldn’t remember the experience.  So perhaps it’s only me that is traumatized, but it still has me rethinking the idea of medical testing.  Unfortunately we just found out that her blood work shows anemia that is not iron deficiency caused, and so they will have to take more blood and do more tests.  More medical trauma to come.

Things they don’t tell you: Autism edition

One of the hardest parts of being a parent of an autistic child is navigating the various systems in order to obtain care and therapies.  It is so confusing, it’s a wonder anyone gets anything done at all with autism intervention in the U.S.  For a long time, I’ve thought that a “single-payer” healthcare system, like the ones in Canada or the U.K. or Australia is just plain better than our system, and my experiences as a parent of a special needs kid have only solidified this opinion.

When we got the autism diagnosis, we got a bunch of reading materials like the first 100 days kit for Autism Speaks.  While that’s useful in understanding the diagnosis and general information about types of therapies, it’s not very useful in terms of practical information about how to obtain care and therapy.  That’s because this sort of practical information, while it’s arguably the most important thing you need, varies so much from family to family and location to location.  Still, we got the autism diagnosis at a local specialty center for autism and related disorders.  It would be logical then to give parents something that outlines all the local resources.

What I’d really like to see is a table of information, where each row is a service provider or agency, and the columns include things like: Contact information, services provided, cost, payments and insurance accepted, who they serve, whether there is a waitlist and how long it is, and what requirements need to be met in order to obtain services.  Here’s what a useful table might look like:

Name   Services Cost Payments and

Insurance

Who is served Waitlist? Requirements to

obtain services

State Early Intervention program   Coordinates and pays for therapies, including ABA, ST, OT.  Does not provide services directly. up to $100 monthly, depending on income Takes insurance and private payments Children under age 3 with an ASD diagnosis or with other developmental delays No, but it generally takes ~2 months to begin services obtain a referral (can self-refer), provide medical documentation, meet with service coordinator, possibly evaluations to qualify for services
Easter Seals   Provides in-home and/or in-school ABA and other therapies.  Provides parent training as well. varies Take insurance and accepts funding through various state sources including State Early Intervention program Anyone with a developmental disability, including adults usually no diagnosis of developmental delay or disorder
Autism Specialty Center   Provides evaluations, and various in clinic therapies and services.  Pediatric focused. varies part of University hospital system; takes insurance anyone with Autism or a related developmental disorder.  Pediatric focus. Yes, usually 1-12 months depending on specific service and age of child Must be referred by doctor or school professional.  Cannot self-refer.  Must fill out unbelievable amounts of paperwork before they will even schedule an appointment or put you on a waitlist.

The above example was written quickly by me and written to anonymize our location.  It also lists only 3 of the (so far) 5 service providers/organizations we have dealt with.  It would help me so much to have had something like this 3 weeks ago to answer questions like: OK, I want ABA therapy for my child, but who provides this therapy and where do they provide it?  How can I pay for it?

Yes, a table like this would have to be specific to each state or even each metro area.  But really, it’s not that hard to make, and having this information handy would greatly help overwhelmed families navigate this crazy American system that we have.  I’ve been spending about 10 hours per week for the last 3 weeks just trying to figure all this stuff out (which is a lot when you work full time already and have to care for the autistic toddler) and I still don’t have it all straight.