Is Attention Deficit Disorder really Brain Fatigue?

In Sept of 2014, we took on a new doctor for my then 11 year old daughter with autism.  He is MAPS certified (Medical Academy of Pediatric Special Needs) and came highly recommended, especially for those kids that have low methylfolate in their cerebral spinal fluid, as my daughter did.   He is also very versed in mitochondrial problems in kids with autism spectrum disorder.  He put her on prescription high dose folinic acid (not folic acid) for her cerebral folate deficiency and also asked us to trial LevoCarnitine for possible mitochondrial dysfunction.  L-Carnitine helps to carry fat into the cell and convert it to energy.  Although her Carnitine panel was normal and her serum amino acids testing was cleared by mitochondrial specialists at our local hospital, he told me that Carnitine is stored in the tissue and muscle and not in the blood, so blood testing for Carnitine can be unreliable.  Our local pediatric neurologist also confirmed this information with me.  In addition, one reason for low folate in the cerebral spinal fluid is a lack of ATP (energy) to get it there. 

Our introduction to Leucovorin (high dose folinic acid) for her low folate levels was rocky and she reverted back to her very irritable self… the likes of which we had not seen in YEARS.  Then I added Rx Levocarnitine (prescription generic Carnitor).  We immediately saw positive things with the addition of LevoCarnitine.  She calmed right down but she was no longer fatigued all the time.  She stopped constantly yawning.  She started to perform better in school.  I was amazed. 

The following year, in Sept 2015, Marley sat in this doctor’s office telling him that she feels “bouncy” in class.  She had just started middle school and her biggest issue was having to sit through 45 minute periods.  It was clearly an attention problem.  He ordered our standard work-up and suggested that we double our levocarnitine dose.  She was already on a quality B complex, so were supporting her mitochondria that way.  I asked… “But, why do we want to increase her energy?  She is already bouncy?”  He said “We want to increase her brain’s energy to function.”  And boy… was he ever right.

Interestingly, the Carnitine panel again showed completely normal… even after supplementing it for a year. 

After doubling her dose of levocarnitine, she is now able to sit through class and focus on the task at hand.  She is finishing my sentences for me.  She is playing piano.  She is getting all A’s and B’s in school. 

Let’s let that last statement sink in……  This was a child that had SEVERE, nonverbal autism.  She was completely detached and could not even function in an autism classroom.  Now, she that she is being treated for her mitochondrial problems and her cerebral folate deficiency and is eating a dairy free diet with only whole foods and nothing processed, she is conversational, 100% mainstreamed in school and making A’s and B’s in the regular curriculum. 

There are studies to support the use of levocarnitine for Autism SpectrumDisorders:
This study used 50mg/kg for three months and saw “significantly improved several clinical measurements of ASD severity”.

This study showed that with the addition L-ActylCarnitine ,“we observed of a stronger reduction of hyperactivity and improvement of social behavior in patients treated with LAC, compared with the placebo group.”

We use prescription levocarnitine but there are brands that are over the counter that are reliable as well, such as the NOW brand. Since L-Carnitine carries fat into the cell, it should be taken with a fatty food.

I think that it is important to realize that when the body goes through major changes (such as puberty), more ATP or energy is needed to fuel that transition.  If the mitochondria are already impaired, the brain’s function will suffer and the child will lose focus.   This is not an all or none type of situation.  The mitochondria can be impaired without having full-on mitochondrial disease.  We call this mitochondrial dysfunction.  In kids with autism, we see this manifest in many ways including, but not limited to, seizures, Cerebral Folate Deficiency, inflammation, oxidative stress, impaired methylation, iron deficiencies, thyroid problems and so on.

It is really not much of a surprise that my daughter’s doctor identified her mitochondrial issues (even after other doctors had dismissed them) and sought to treat them to improve her quality of life.  He co-published this study on Metabolic disorders and abnormalities associated with autism spectrum disorder in 2012 and has done much research on the subject. 

Her pediatric neurologist saw her last week and was very pleased with her progress saying that Levocarnitine and Leucovorin are very safe, low risk supplements even at prescription strength, so he feels very comfortable with her protocol.   

My hope is that when parents and doctors alike see issues of attention deficient disorder in their children and themselves, they will begin to look at the biochemical pathways and biomarkers for mitochondrial dysfunction to find the best and most effective way to treat this symptom of a larger problem.

This awesome paper was written by Dr Richard Kelly at Kennedy Krieger Institute.
Evaluation and Treatment with Autism and Mitochondrial Disease.

Here is the link where you can find MAPS certified doctors.

This pub med study shows the link between ADHD and mitochondrial disorders.

Fifth Grade Graduation Day

Here we are.  Fifth grade graduation.   The school gym is hot and sticky.  It is noisy with kids eager to get summer vacation started.  The smell of sweaty kids is in the air.  There is laughing and talking and all the echoes that a gymnasium brings.  Parents have gathered with their cameras and video cameras to watch their 5^th grader move on to middle school.  I smile at my husband who has been my rock, then I slowly scan the room taking it all in.  The proud parents smiling.  The wistful parents with misty eyes.  The busy parents chatting with each other.  And I am amazed that we even got here.

For me, this day brings a multitude of emotions.  My 5^th grader is not your typical 5^th grader.  She has challenges.  She was born with a major brain bleed that affects her motor skills.  She has autism.  She has autoimmune and other medical diagnoses.  I flashback to when she started kindergarten here, seven years ago.  Marley was five and she and I were both frightened.  She had to be in a self-contained classroom because she couldn’t tolerate any sensory stimuli.  She had a few words but she did not talk in complete sentences.   Many days, I had to carry her into the school, kicking and screaming where I would place her into the care of “autism specialists” and they would escort her into a tent in a quiet corner of the room where she spent most of the day shivering and receiving therapies in the tent.  I would walk back to my car and cry for hours, not knowing if I could stand the pain much longer.  It was a heartbreaking time. 

The following year, she was left behind to try kindergarten again.  This year, they would try to bring her to the mainstream kindergarten classroom for a few minutes each day.  Maybe just for circle time so she could see what typical peers do.   She needed someone by her side every minute to keep her focused and engaged.  And even then, it didn’t last long.  Then, back to the self-contained classroom she went. 

In first grade, a boy in her self-contained class sent the special needs teacher to the hospital with a concussion.  When I brought her to school the next day, they had moved my daughter’s desk across the room…. To keep her safe, they said.    The boy had his own “body guard” assigned.  And my heart sank.  Something had to be done.  She could not stay in this environment.  We were still using hyperbaric oxygen therapy and getting progress but there had to be more.  I did more research.  Her diet was extremely healthy and free from anything inflammatory.  Then we found eosinpahilic esophagitis and removed eggs from her diet (in addition to the gluten and dairy and soy she was already free of) and removed the cat from the house and she got better still.

In second grade, I decided that I would take a leap of faith and enroll her in the Brain Balance Program.  It was my last ditch effort to get her mainstreamed.  By May, her team recommended full mainstreaming in 3^rd grade.  I remember the school speech therapist saying... "Kelly ... this is a BIG deal. Once they are in self-contained classrooms, it is hard to get out."  I had to hold back my tears of joy.

Third grade in the mainstream classroom was quite an adjustment.  Her constant scripting (reciting lines to herself over & over again) was disruptive and her rigidity led to some meltdowns.  On her bad days, her screams of frustration were heard throughout the hallways.   However, her teachers called meetings often to discuss what we should do.  They involved me in her education.  They devised ways to keep her focused and her anxiety levels down with schedules and modifications.  And the kids….they embraced Marley.  They watched out for her.  If there were younger kids whispering about her in the halls, the kids in her class stepped forward and said something to those kids.  They would not tolerate it. 

Over the summer, we used ALA (alpha lipoic acid) and saw a whole new self-aware Marley emerge.  It took her healing to a new level and teachers noticed right away.
Fourth grade got better still, due in large part to a brand new, fresh out of school, teacher.  She was even-keeled, never got upset, and worked very hard to accommodate Marley and her needs while helping her reach her potential.  One day, she gave Marley a watch.  Marley had been anxious in music class and no one could figure out why.  Turns out, there was no clock in the music room, so Marley did not know when it was time to leave.  The watch changed things for Marley dramatically.  Her anxiety came way down.  Her scripting stopped.  We were off and rolling.  Her reading was on-grade level.  Math word problems were difficult but Math computation was her strong suit.  We got her a laptop so she did not have to hand-write everything and her creative writing took off too.

In fifth grade, Marley’s fourth grade teacher was moved up to fifth grade and Marley got to have her again.  We discovered via lumbar puncture that Marley has Cerebral Folate deficiency, and started her on Leucovorin for the folate and LevoCarnitine to support her mitochondria and it was like her brain suddenly had the energy it needed to THINK.  It has also helped her anxiety a ton.  Her teacher raised money and bought exercise balls for the kids to sit on instead of chairs.  The kids loved them.  Marley loved hers too.  Marley got into a routine.  She was serious about her homework.  She did it right when she got home and often independently.  She was a transformed child. 

As I am reliving all of these memories, I realize that Marley is HERE…..in this big, noisy, echoing gym.  She is not sitting with me. She is not wearing noise-blocking headphones.  She is not stimming.  She is not flapping.  She is not scripting.  She is not in her own world.  She is not being escorted by an aide everywhere she goes.  She is sitting with her peers and then waiting patiently in line.  She is looking for us to wave at us.  She is smiling and fully connected.  She is aware of this moment and all the excitement this time brings for her.  And this makes my heart fill with pride and gratitude, for it is then that I grasp that sometimes you have to feel the pain and the struggle and do the incredibly hard work to really, truly feel the joy.  

Marley has waited patiently in line, and finally, her name is announced into the microphone.  When it is, an enormous cheer erupts from the audience. I gasp at the hoots and hollers for her and the enormity of support from her fellow students, other parents and teachers in this gym.  I start to shake gently as my tears start to flow.  It is evident that people love her and have been cheering for her right along with us.  Her success makes everyone in the building proud of her.  Marley takes her certificate and poses for a picture with her teachers and then very casually walks off stage just as she is supposed to do.   She stands and sings a song with her class to the parents.  She participates in a dance with the other kids and calmly watches videos of moments past.  Things that would have been impossible just a few short years ago.

I close my tearing eyes and just let these feelings rush over me like a tidal wave.  I slow my breathing and just feel the pure joy of the moment…… because I have no doubt there will be more challenges in the future but right now…..I just want to breathe in the happy.  

The Wonders of Homeopathy

Since it has been about a year since we started on our journey with homeopathy, I figured it is good to sit back & reflect on just how far we have come in a year. 

A year ago, at age 3 1/2, my youngest was severely allergic to seemingly everything.  Foods, heat, emotions….even his own tears.  He was anaphylactic to dairy, eggs, peanuts, tree nuts and rashed terribly with gluten.  There were a host of new foods showing up on his allergy testing each year.  In all honesty, I was deathly afraid of what each day would bring.  We could not make it to breakfast without Zyrtec.  Any high histamine food (oranges, tomatoes, avocados, strawberries) would send him into coughing fits and he was covered in eczema.  Oh yes…and did I mention the eye itching?  Oh my goodness the eye itching!  The boy needed a cool washcloth over his eyes at all times of the day.  I was afraid he would hurt his eyes with amount of itching he did.  And forget it if he started to cry…..he was allergic to his own tears!  If he got upset (and what toddler doesn’t), he would get hives all around his eyes that itched like mad.  And if he ran outside in the heat, he broke out into an itchy rash.  He had cholinergic urticaria for which the allergists advised me to increase his daily antihistamine.   We had to leave several outings to come home & get him in a cool bath.  He was miserable.  Our family was at it wits end.  

Enter homeopathy. 

I needed something that was not allergenic and very gentle.  He was already on a great diet since he is allergic to most allergens anyway and we are a very low sugar, no chemicals kind of family.  Since allergies are a sign of the immune system gone awry, I needed something to help regulate it and bring his body into balance again.   I found a local homeopath that specializes in allergies via a dear friend and I considered it was worth a try. 

As I pulled up to his little quaint office and walked inside with my son, I found myself thinking “Please don’t be a witchdoctor!  Please don’t be a witchdoctor!”  I had no idea what to expect.  This homeopath was very gentle and sweet and I felt immediately at ease but the intake appointment was like nothing I had experienced before.  The questions were unexpected.  He asked about my son's ailments and the timeline in detail.  But he also asked about my son’s feelings, his demeanor, what he liked and disliked. Did he do better at the ocean or worse?  Did he tend to be cold or hot?  Did he like being held or not?  This was a whole new experience for me. 

I walked out of there very skeptical that there was anything this man could actually do for my son.  However, the hopeful side of me remained willing to try.  After two grueling hours of detailed questions, the homeopath gave me a remedy to try with Xander.  He said give only one dose.  A total of two tiny drops.  No follow-up doses until Xander's body did what it needed to do with the remedy.  Until his body had taken healing as far as it could with this remedy.  The homeopath warned me that sometimes you might see a very mild exacerbation of symptoms before you see healing.  This should be very short-lived and anything over a day should warrant a different remedy.

I went home and gave Xander 2 drops of his first ever remedy.  He got mild hives within 20 minutes of taking the remedy so I dosed Benadryl and waited.  By the next morning, he still needed Zyrtec as he started to rash up and get itchy before breakfast…as usual.  BUT….by third day, he did not rash before breakfast.  Or….anytime at all during the day.  And that was the end of our love affair with Zyrtec.  Just like that…..we no longer required daily Zyrtec with a splash of Benadryl added in here & there when needed.

I walked back into the homeopath’s office and said, “Okay.  You have my attention.  Tell me more about this homeopathy stuff.”

This is not to say his allergies are all gone……he still has severe food allergies, but we are continuing to work on it.  He no longer hives when he cries.  He can once again eat strawberries and oranges and chocolate….and other high histamine foods.  His color is much better.  He is no longer horribly pale. 

As symptoms pop up, we address them. 

My once chronically constipated little boy that alternated between loose stools and tiny ball poops and proclaimed by the ped GI doc to be "full of stool" according to his KUB is now regular due to ONE remedy.  After we solved that problem, he was finally potty-trained within a month. 

He was getting nightmares and could not sleep through the night without screaming out for someone to come into his room and he was terrified for us to leave.  After a few weeks of my sleeping with him… in his room… in his tiny twin bed and pure exhaustion, another call to the homeopath gave us a remedy to help him sleep through the night.  THAT was most welcome. 

Then he started getting chronic, daily bloody noses.  After many home remedies failed, the pediatrician said we needed to see the ENT.  The ENT said steroid nasal spray indefinitely.  One call to the homeopath and he said "we can stop bloody noses". I was skeptical but indeed…..after we tried a few different remedies, we hit on one that worked.  To be fair, the bloody noses have come back twice, but each time, the homeopath has given me a new remedy and it has worked.  Unbelievable. No steroids needed.

Around the holidays, he got sick with a cold and it was quickly followed by ear pain and a fever.  I know how antibiotics can ruin gut flora and I have seen many kids’ immune systems get crushed by using them, so I try to avoid them as much as humanly possible.  But when your child is crying in pain, you get scared.  It was 6pm on a Friday night.  I called the homeopath.  He gave me a remedy to try.  I had to run out to the store and buy it.  I did not treat his fever as that is the body’s way of burning off the infection.  We gave him the remedy and put him to bed.  I checked on him at 10pm, and he was sleeping soundly and the fever was gone.  He awoke with no pain at all and his nose started running…. relieving all that pressure.

The same thing happened while we were on vacation.  My son woke in the middle of the night with ear pain.  This time, he had different symptoms.  No fever and acted differently, so he got a different remedy the next morning when I talked to the homeopath.  Thankfully, I had my homeopathic kit.  The first recommended remedy did not work.  He tugged on his ear all day.  The second remedy was perfect and the ear infection was gone and drainage started.

Last summer, he had a bad rash on his lower legs.  Thankfully, the homeopath gave me a remedy and within a week, it was much better.  
Here is the rash before treatment:
 

 And this picture is one week after a remedy to treat it:

These are just a few examples of what homeopathy has done for us.

WHAT IS HOMEOPATHY? 
Homeopathy is the theory of “like treats like”.  It is based on the idea that substances that produce symptoms of sickness in healthy people will have a healing effect when you give them in very dilute quantities to sick people who exhibit those same symptoms.  Those very dilute quantities of substances are called remedies.  Remedies are meant to spark the body’s own healing processes and bring the body back to homeostasis.

Remedies are very specific to the individual and that is why using a homeopath to pick the correct remedies for you is very helpful and the only way to go if you are dealing with a chronic condition like allergies or asthma.

We have found homeopathy can be a lot of hit or miss.  You can miss a few times trying to find the right remedy...but when you find it, it is like you have won the lottery.  It is amazing to see.

You are not supposed to touch the remedies.  Just dump it into your mouth and suck or dilute it in water and give a few drops of water. They are sugar pellets sprayed with the remedy, so touching it may rub off the effect.

This healing journey has taken us many places and I am so grateful it led us to homeopathy.  I don’t want to imagine where we would be without it.

Cerebral Folate Deficiency – The biggest puzzle piece yet

I have always had a lot of unanswered questions.  There were a lot of pieces to the puzzle that didn’t seem to make sense until I learned about Cerebral Folate Deficiency and its association with autism.

Cerebral Folate Deficiency (CFD) is a relatively newly identified disorder in which there is low 5MTHF (5-methyltetrahydrofolate) in the CSF (cerebrospinal fluid) but normal 5-MTHF in the blood.  5-MTHF is the bioavailable form of folate.   Folic acid is the synthetic form of folate and supplementing with it can often makes problems worse and not better.  These kids need the bioavailable form of folate.  When there is not enough, developmental delays can occur.  Symptoms can manifest as irritability, poor sleep, gross motor problems, seizures and developmental delay among other symptoms.  It often shows itself in young children and regression is typical.  Often, but not always, these kids have a smaller head circumference and CFD is linked to mitochondrial dysfunction in a subset of children.   Cow’s milk down regulates folate receptor autoantibodies (FRAs), so going dairy free is very important.  Folate receptor autoantibodies (FRAs) block the transport of folate into the Cerebral Spinal Fluid and they are being found at an alarming rate in children with autism.  FRAs, dairy and mitochondrial dysfunction are not the only way that CFD occurs.   There are a number of genetic mutations that affect folate metabolism. 

I also discovered that the mothers of these children often cannot break down folic acid themselves due to genetic reasons.  There are several gene mutations that can lead to this problem.  MTHFR is only one of them.  The mother’s shortage of folinic acid sets up their baby for problems in the womb.  Another noteworthy piece of information is that birth control pills deplete the body of folinic acid, putting young mothers-to-be at a strict disadvantage.

**Please note that taking folic acid, as young pregnant mothers-to-be are advised, DOES NOT help.  In fact, it may make problems worse because these mothers cannot break down folic acid, which is the synthetic form of folate.   Instead these pregnant moms should be taking folinic acid or L-5MTHF.   A few prenatals have now started using the good forms of folate in their prenatals.  Thorne is one such company.

Folate is needed to support the metabolism of purines and pyrimidines which are the building blocks of RNA and DNA.  They also are also very important for cells to make energy properly.  If you are diagnosed with CFD, Leucovorin, a high dose folinic acid, is prescribed because it is a versatile form of folate.

The more I read, the more alarmed I became.  Everything I read was hitting home in a very scary way.  There were so many red flags in both my & my baby’s history.  First I will address what was concerning about my history.

I had trouble getting pregnant for a year after stopping birth control pills.  Finally, I got pregnant at age 28 and I was extremely sick during pregnancy.  I was hospitalized several times and vomited a minimum of 10 times per day until my body gave in and my water broke at 33 weeks old.  She had a grade 4 IVH (Intraventricular hemorrhage) at birth.  Not enough folate could explain this occurrence.

Following my first pregnancy with Marley, I had a miscarriage and then an ectopic pregnancy that ruptured.   Both of these could be attributed to not enough folate.

Then I got pregnant with my second child, Skylar, and at the advice of an applied kinesiologist, I started taking L-5MTHF (the broken down form of folate with a methyl donor attached for better absorption) and I was not as sick.  And the baby did much better!!  I did go into premature labor with her at 34 weeks but she held on until 39 weeks.  Perhaps I was not taking enough L-5MTHF?

When I got pregnant with my third baby, I again took methylfolate (800mcg), felt better but had lots of contractions.  I went into premature labor with him at 29 weeks and was put on best rest until he came at 39 weeks.  He is developmentally fine but has severe food allergies.  Again, Perhaps I was not taking enough L-5MTHF?

More things that are concerning about my folate metabolism: 

I have elevated MCH & MVH, which are indicators of either not enough folate or not enough B12. 

I am FOLR2  +/+ (which will block folate receptors)

I am DHFR  +/- (which converts dihydrofolate into tetrahydrofolate)

I am SLC19A1  +/- (which is a transporter of folate and is involved in the regulation of intracellular concentrations of folate.)

As for my daughter, there is even more reason for concern and more red flags:

As I noted before, my daughter had had a grade 4 IVH (Intraventricular hemorrhage) at birth.  She also has a syrinx in her spinal cord that likely developed in utero as well.  Not enough folate could explain these problems. 

She also has strabismus, which may be attributed to her brain bleed OR it could be attributed to a Cerebral Folate Deficiency.

Marley was an irritable baby and she didn’t sleep well at all.  She slept through the night for the first time at 18 months old, but it still was not consistent….a few days on and several days off.  All red flags for CFD.

At age 3, we started her on L-5MTHF (800mcg) and by the next day, she could walk down steps independently.  She was also having hours long screaming tantruming sessions, which ended with staring spells which we believed to be absent seizures.   They stopped when we started the L-5MTHF.  She has been on L-5MTHF ever since.

When she was age 30 months, the genetics department pointed out that she had an unusually small head and therefore, was a good candidate for Rett’s disease, for which they tested her.  The test came back negative along with a completely normal microarray.  Around this time, she was diagnosed with severe, low-functioning autism.  Low-functioning, regressive autism is a sign of CFD.

Marley also has genetic markers that indicate problems with folate metabolism:

She is FOLR1  +/- (which will block folate receptors)

She is FOLR2  +/- (which will block folate receptors)

She is DHFR r +/- (which converts dihydrofolate into tetrahydrofolate)

She is MTHFR A1298C +/- (which converts 5-MTHF to THF)

She is SLC19A1 +/+ (which is a transporter of folate and is involved in the regulation of intracellular concentrations of folate.)

Add all this to the fact that she fatigues easily, has chronic constipation, has tight muscles on her left side, is still developmentally delayed and has problems with focus and I was concerned.   If she did have CFD, she may start to have seizures once puberty hit.

Since this is a fairly new diagnosis and few mainstream pediatric neurologists know about CFD being tied to Autism, I had to ask around to see what doctor would be my best bet with whom to approach with all this information.  We have seen several neurologists in the past and they have had nothing to offer us at all…..so I wanted to make this appointment count.

If it turned out that she has Cerebral Folate deficiency, she would be prescribed Leucovorin, which is high dose calcium-folinic acid in an effort to bring up her levels of L-5MTHF in her CSF.

I was in luck.  I live in a city with great medical resources and a fabulous, well-known hospital and there just happens to be a pediatric neurologist on staff that knows about and understands CFD and it’s link to Autism.  I made an appointment.

I don’t have much luck with doctors, but to my surprise and pleasure, he was both wonderful and knowledgeable…….and concerned.  He agreed with all the information I presented to him and said he wanted to do a lumbar puncture right away to rule CFD in or out.  He said to me:

"Kids with autism should have a full neurological and metabolic work-up to see if there is something we can do. Autism is a set of symptoms and if we can find something treatable to help with their symptoms we should do it."

Yes....after taking Marley to see several neurologists and developmental peds over the years who have tried to send us out the door with an antidepressant or an anti-psychotic drug, or GI docs that I had to beg to help my daughter when she was in terrible, excruciating pain.....that afternoon I hit the jackpot.

He listened. He was interested in what I had done to take her this far in her development. He said "if we can find something that is treatable, many of my patients go on to be extraordinary adults. Not just ordinary....but extraordinary because not only are they functioning independently but they have extra gifts to share."

And the appointment was made for a lumbar puncture.

I was terrified.

We went into the hospital early in the morning.  They used Versed & Fentanyl to sedate her, but she is hard to sedate and even with the maximum dosage of both sedatives, she sang to them during the procedure.  

Recovery was hard.  She was in extreme pain for 2 days.  She was dizzy and couldn’t stand.  We had her lie flat on her back & pushed fluids like crazy to get her body to reproduce more spinal fluid to relieve the pressure.  By the 3^rd day, she had excruciating headaches that were relieved only when she laid flat on her back.  I was panicked.  But the neurologist told me that it can take some kids a week to recover and to keep pushing fluids and keep her flat on her back.  I did and by day 5, things were looking up.  She was up and around for about 30 minutes before the headaches set in.   By day 6, there were less symptoms.  By day 9 she was recovered from the lumbar puncture and the waiting game for results began.

We were on vacation when I got the call from the pediatric neuro resident who had done her lumbar puncture.  She said ….

“We have about half of Marley’s results in and everything is normal.”

I was shocked.  I said “Define normal.  Tell me her numbers.”

She told me Marley’s 5-MTHF is a 44 (range 40-120).  I exclaimed, “THAT’S NOT NORMAL! That is very low!  It is HALF of what it should be.  We want her to be between 78-82.  Especially considering she has been dairy free and supplemented with 5-MTHF almost all her life! Look at the study published in 2013 by Dr Frye and Dr Rossingol showing that kids with autism have levels anywhere from low 40’s to 80’s and that combined with FRA’s (Folate receptor autoantibodies) puts them at a huge disadvantage.  See the levels of the kids treated here. They treated these kids with Leucovorin and the kids showed gains in several areas.  See the study here.

The pediatric resident just told me to take my argument to the attending doctor whom we had met originally. I did….and after hearing my argument, he agreed with me that she needed to be treated for Cerebral Folate Deficiency.  I think he is still learning about all of this because I had to tell him the dosage of Leucovorin that is used to treat CFD and he easily agreed with me after trying to prescribe a much lower dose.  The neurologist said to look for increased socialization, less emotional meltdowns, more tolerance to foods (less picky eating) and better gross motor skills with Leucovorin.

All of this information is in the study and in current literature on CFD and Autism Spectrum Disorders and it left me wondering why pediatric neurologists are left in the dark on this subject.    This is a huge break-through in Autism.  And it is TREATABLE!  If caught and treated early enough, Leucovorin can provide significant progress or even a complete recovery of both neurological and ASD symptoms.

In the 2013 study, 93 children were studied for Folate Receptor autoantibodies and they were found in 75% of the children.  FRAs are only one cause of Cerebral Folate Deficiency. From the abstract:  “Given these results, empirical treatment with leucovorin calcium may be a reasonable and non-invasive approach in FRA-positive children with ASD.”

There is only one lab that can measure FRAs in blood and they have recently reopened. However, the ONLY way to test for CFD is with a lumbar puncture.

A great paper on Cerebral Folate Deficiency and Autism 

It has become clear to me that our local pediatric neurologist does not know enough about CFD to treat my daughter appropriately, so I have made an appointment with one of the doctors that actually wrote the study.  He will see her in a few months.  I hope to have her on Leucovorin very soon and report to him how she is doing.  I also know that bringing up 5-MTHF levels in the CSF is a slow process, so I don’t expect over-night results.  Instead I need to look for slow and steady gains. 

I am so hopeful for her future and I will keep you posted on her progress.   

Thank you for your love and support while she continues to heal.

 For even more information on Folate and its association with Autism, click here.

 

Ten tips for a productive trip to your child’s specialist

Doctor or practitioners’ appointments have consumed much of my oldest daughter’s life.  There has been the pediatrician, the ophthalmologist, the pediatric gastroenterologist, several neurodevelopmental pediatricians, pediatric neurosurgeons, several pediatric neurologists and that doesn’t even begin to account for the biomedical doctors and practitioners.  My daughter needs all these doctors to help manage her care…both biomedical and mainstream. 

In my opinion, the best type of doctor to have when your child has autism is a MAPS (Medical academy of Pediatric Special Needs) or a DAN! (Defeat Autism Now!) doctor; however, there may be times when your child needs to see a specialist.

When a child with autism sees a mainstream specialist, I have found there are a lot of things to consider.  Today I am going to talk about how I prepare for meeting with a specialist because it has taken me a long time to learn these lessons myself.  

1.     Ask around to find the most compassionate, knowledgeable doctor in your area. In our case, this doctor needs to be up-to-date with the most recent studies on autism and how it is intertwined with metabolic problems, neurological, immunological and genetic problems.  For example, if you are seeing a pediatric neurologist, you want him/her to know about Cerebral Folate Deficiency in kids with autism.  If you are seeing a pediatric GI, you want them to understand that kids with autism classically have GI distress and you want them to be willing to investigate and treat that.  Knowing what to expect from this specialist is very helpful, so asking other parents that have seen that doctor for their feedback is very helpful.  If you are extra-ambitious, you can read the specialist’s published papers if they have any.  This gives you an idea of where their specific interests lie and how they approach problem areas.

2.  Do your homework.  Research.  This helps you speak the same language as the doctor and  also helps you know exactly what to ask for…which leads us to #3. 

3.     Know what you want from the appointment.  A good doctor will ask “Why are you here and what do you hope to get from this appointment?”  Be ready to answer that question with specific answers.  Be ready to make your argument as to why your child needs testing in your opinion.  Stay away from open-ended questions like “What avenues would be useful to explore?”  Hopefully, you have this information before even stepping into the doctor’s office. If you don’t, a MAPS (Medical Academy of Pediatric Special Needs) or a DAN! (Defeat Autism Now!) doctor can help direct you.  You want to have a set agenda when going into the office.

4.     Make sure that this specialist has access to all of your child’s medical history BEFORE you arrive. Hopefully, the doctor will take the time to review it before he or she even walks into the exam room.

5.     Make a ONE page (not twenty) list of reasons why you are here at this specialist’s office and what you want.  For example, if you want testing for CFD, make a list of the reasons you want this and the child’s history related to this.  For example, the child cannot tolerate milk; the child responds well to methylfolate supplementation with better cognition skills, child has staring episodes, etc.  List as many reasons as you can think of.  And list them as symptoms….NOT as your diagnosis.  For example, if your child has staring episodes…write down “staring episodes” – “Could this be seizures?” (even if you very well know that they could be.)  Make two copies of this.  One to give to the doctor and one for you to refer to as you speak to the doctor.

6.     Make a one-page list of all your child’s medications and supplements and their dosages and give it to the admitting nurse so they can pass it on to the doctor.

7.     Bring any new studies that you think may be relevant to your child’s case.  Since much science is new and emerging in the autism field, sometimes we have to bring in the peer-reviewed studies to show the doctor.  Even if they have already read the studies, this shows the doctor that you have done your homework and you don’t want to waste their time.

8.     Be respectful of their time.  Don’t be long-winded.  Get to the point quickly and accurately.  Answer all questions as honestly as you can.

9.     Stay in their wheelhouse!  Stick to the doctor’s strengths.  That is why you are there after all.  Don’t ask a neurologist questions about candida and don’t expect a mainstream GI doctor to understand why you think MiraLax is bad for your kid because your kid has leaky gut and the plastic in the MiraLax could go right into their bloodstream.  They won’t get it.  Don’t even go there.  You can ask for alternatives to medications (like MiraLax), but don’t go looking for an argument.

10. Lastly, listen to the doctor.  Genuinely listen as a concerned parent.  Don’t roll your eyes or get upset.  If that is how you feel, wait until after he or she leaves to do it.  Don’t argue, regardless of whether or not you agree with what is being said. I don't see anything to be gained by arguing.  Bring up your points and let the doctor tell you his/her thoughts on the matter.

I hope that these quick tips make for an easier trip to the specialists office and I hope you get as much as possible out of the visit.  Good Luck!  

Healing with a Positive Attitude

 I am blessed to be married to an optimistic man.  Every problem (or opportunity) is met with:  “It’s good to have options.”  Or “We can handle this.”  Or “It’s okay to feel how you feel.  Now let’s figure this out.”  His attitude tends to rub off on those around him.

The best advice I ever got when starting on this journey of recovery was to keep a journal.  To keep track of progress.  To see what works and what doesn’t.  To keep a log of your child’s behaviors – both good and bad.  To watch the progress and the setbacks.  The leaps and the regressions because all this knowledge can lead you to the next step.

Recently, I took some time out to review old journals.  They date back almost ten years now.  They are mostly just notes from when I first started giving her supplements.  The first was fish oil.  She was non-verbal then and it was a really tough time.  In my head, I remember how awful it was -- But as I read my journal, I read things like:

11-30-04 (age 2)

“When reading a book that had a baby’s eyes highlighted, she pointed to my eyes.  Did great at TEACCH.  No crying spells and did almost all her tasks!”

12/9/04 (age 2)

“I asked Marley what a ladybug says and she made a squeaking noise!  This is HUGE because she did something on command.  YAY Marley!”

And the entries go on like this…..highlighting all her accomplishments – no matter how very small.  I actually cheered her on in my writing with YAYs and WOWs!

Then I cried as I read about how she gets sicker and sicker.  How I suspected seizures because of the blank stares, flickering eyelids and terrible tantrums followed by a “what-the-hell-happened” look on her face.  Then I started timing the tantrums and noting how long they go on (over an hour each time) and how very violent they are and noting her triggers….being pulled out of the bath tub & changing her diaper could set her off for an hour or longer.

Her bowel movements were sometimes up to 10 per day.  Her poor butt was burning.  Nothing I did could control her unstoppable GI problems and messy stools.

I wrote about how I discovered DMG could help kids with seizures and how I was elated when the DMG stopped her tantrums…..but made her extremely hyper.  I was doing all this on my own.  No one to guide me.  But I recorded all my notes….all the studies I was reading and my heartache when I took her to the neurodevelopmental pediatrician who doubted every last thing I told him about her improvements on fish oil and DMG. 

But then I found a new doctor and the happy, positive entries came back:

4/8/05 (age 2 ½)

2^nd day of methylfolate and no DMG & new diet with no white sugars or white flours and only two pieces of fruit per day.   For the first time today, at Little Gym, she stopped when the teacher said, “Freeze”.  She did this THREE TIMES.  Awesome!  She also began to walk on the balance beam with me holding her hands. YAY!

4/20/05

Changes since adding methylfolate (FolaPro) Chris and Nana both notice more babbling, good spirits and generally happy and starting to walk down stairs. Go baby!

I was cheering her on in my writing again.  With every successful intervention, I got more and more excited.  You can see it in my writing.  “I can do this….she CAN get better” was the sentiment. Little by little, I gained more confidence as I could see her slowly, slowly blooming.  There were lots of lows along the way but we just kept plugging along and what I learned was….Attitude is EVERYTHING.

If you want something, go get it.  Hire a good doctor that will stand behind you.  You are going to hit bumps in the road…but without the bumps, the little things are not worth as much.  This journey is not what I wanted for myself (or anyone else), but I have learned so much.  I have learned the importance of the right foods.  I have learned that the body can heal itself if given the right tools.  I have learned that you have to fight for what is right.  I have learned to follow my intuition.  I have learned that love is there…even in the darkest hours.  I have learned to trust the man I love because he has got my back.  And I have learned that it is all about attitude.  Being grateful everyday for your blessings is essential. 

So be grateful.  Be mindful.  Be positive.  You can do this.

***This post is dedicated to the Steffens family who have made positive thinking an art.  They taught my husband how it is done and he taught me.  And to my father-in-law, who would have celebrated his 69^th birthday today.  I love you.  And attitude IS everything. ***

“The longer I live, the more I realize the impact of attitude on life.  Attitude, to me, is more important than education, than money, than circumstances, than failures, than successes, than what other people think or say or do.  It is more important than appearance, giftedness, or skill.  It will make or break a company…a church…a home.  The remarkable thing is we have a choice everyday regarding the attitude we embrace for that day.  We cannot change our past…we cannot change the fact that people act a certain way.  We cannot change the inevitable.  The only thing we can do is play on the one string we have, and that is our attitude…I am convinced that life is 10% what happens to me and 90% how I react to it.  And so it is with you…we are in charge of our ATTITUDES.”  -Chuck Swindol, Author of “Attitude.”