Luki's new milestones since turning two.

Lucas turns 2!

How time flies! Lucas has turned 2 years old.  It seems like yesterday I was holding him in my arms and spellbound by his little body on the day of his birth.  Time waits for no one, that's for sure!  We spent his birthday at Redondo Beach with Gabe's parents and ordered far too much seafood at the korean restaurant on the pier.  Sashimi, steamed crabs (one for each person, what a treat!), seafood platter, Korean style clam soup...definitely would have set us back a bit, but Luki's grandma insisted on paying for lunch.  Unfortunately, the total came out to be more than what she had brought-even she was surprised at how expensive everything turned out.  Is it just me or is the food price going up these days?  We had a nice lunch and Luki got to wade in the ocean water with his feet for the first time.  He was taken aback by the coldness of the water and stood there like an ostrich with one leg up so as not to get his foot wet.  Of course, we had to hold him as he is still not free standing.  He also seemed to like putting his hand through the sand.  We decided to come to the beach on another day in summer and have a proper picnic with a tent, canopy, chairs and home packed food and spend the day at the beach for Luki to enjoy. I am really looking forward to it although Gabe is worried it might be too much work for him to lug things around and set things up. 

On his second year well baby check up, Luki's pediatrician was so surprised to see the positive transformation in him in just six months before when she last saw him.  He seemed to have better control of his muscles, "verbalized" more (with ohms and awws) and seemed more aware of his surroundings.  I, too, feel he has come a long way in just six months.  I am not sure what exactly has made the difference; was it the supplements, physical/occupational therapy, infant stimulation, baby gyms or, all of the above.  I think what is also overlooked in his improvement is the free time I give him to explore his toys and surroundings on his own term.  He manages to stand and walk around the coffee table several times during the day, hold on to furniture and the sliding glass door to stand and walk sideways.  Rather than me always coaching him to do things, I think this approach has been very successful.  The other day, I called out his name and he stopped what he was doing and made eye contact with me as if to say, "Why did you call my name, mommy?  What other adventures are we going to have today?"  When I verbalized my surprise and happiness at his gesture, he smiled, looked away and continued playing.  Also, when I turned on nursery songs, I noticed he started to clap with good eye contact as if to say, "Mommy, we need to clap our hands when the music comes on."  I couldn't believe what I was seeing!  Could I just be imagining  these things? Wishful thinking on my part? Could be, since these occurances are not always consistent.  Luki needs to be given way more credit for his awareness than I have been giving him although he not where I would like him to be.  He IS very aware of everything around him and is very sensitive to other people (especially my) feelings.  Once, when I cried in front of him, he started to cry with me.  When I laugh, he laughs with me, too!

During his Well Baby checkup, he started to cry and fuss when I put him in his baby gown and laid him on the examining cot.  It almost felt as if he remembered the many times he got poked for blood draws and thought he might get poked again.  It's hard to tell for sure and I am only going by my intuition since Luki can't talk, His latest hobby is playing with my hair (pulling it) as well as his own.

Luki still hasn't started his ABA, yet. But, he has met an incredible physical therapist who really seem to connect with him.  Unlike other times during his PT sessions when he fusses and cries after a few minutes, he has not cried once with Ms. Erica.  My prayer now is that he will meet an equally connected therapist for his ABA sessions. 

Eureka! My crabbiness has nothing to do with any situation or person but everything to do with how I feel about myself.

     So, lately I found myself feeling a bit down and crabby. I;ve been trying to figure out why I am feeling this way.  Given, Luki has recently been diagnosed with autism might have something to do with it.  But, I know he is a very special and intelligent soul in a somewhat different body from other people and  I am at peace with his condition - so long as he doesn't develop seizures and have other health issues.  This is just how he has decided to manifest into this world in this particular lifetime and what an honor it is that I have been chosen to be the mother to such a brilliant soul.  I thought maybe it had something to do with Gabe as I have been feeling short with him on trivial things.  After reflecting a bit, and perhaps with some inspiration from Spirit, I had the understanding that this negative feeling which I have been projecting outward has nothing to do with something outside of myself.  In fact, it is a negative feeling I have toward myself which gets displaced onto things/people outside of myself.  This understanding must have come from above or, I am getting better at understanding myself and how I tick, or both.   Perhaps, discernment like this comes with maturity and age - I am getting old (er).  After having realized this, some of the negativity dissolved away.  It was a pity party for myself and a bit of low self esteem (which may explain why I have been  shopping for clothes so much lately) which my mind was trying to blame on other people and situations. After this realization, I found peace again with my husband and my situation with Luki.  Living in this physical world will always give me  low grade anxiety even with all the faith and trust I have developed over the years for God.  The three dimensional physical plane is not an easy classroom.
Now, the dilemma remains: how do I find more self esteem and peace with myself?  Is it possible to generate that from within or does it need to be given by someone (force) outside of myself?  I fret that I will be treated less than by other people because of my son's condition.  I worry I will not be able to relate to normal people if our situation  make us live a very differnent lifestyle.  I wish I had all the self confidence and "I don't give a crap about what other people think" attitude.  But, I know me.  I worry ALOT about what other people think about me.  I always felt like an outsider my whole life and have tried to blend in with whatever group I am with and when that was not possible, it always hurt.  We all want acceptance and inclusion, isn't this normal? Don't we all feel this way?
What is the lesson in this situation?  Find contentment with my authentic self and don't worry too much about being accepted or being a people pleaser. This is a hard lesson for me and I know my son came into being to help me master it.

I spoke with Michelle Whitedove again on a radioshow.  She just reiterated how special Lucas is and that I am worrying way too much.  She suggested I send him to Montessori and help him with vissual and hand coordinated activities.  She said he was going to surprise me and that he was an evolved being here to share unconditional love.  I love him so much and am so grateful to him.







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ABA, Gargus and Research Ideas.

Yesterday, Luki got his first ABA evaluation.  It was pretty lengthy and comprehensive and he has another one on Wednesday.  It was so sad to answer "no" to so many of her questions.  "Does he feed himself? Does he play peekaboo? Does he point to things? Does he say mama or dada? Does he acknowledge his name?" No, no no and no.  To me, Luki is perfect, but after having answered no to so many of these questions, it just reminded me of how very different he is from regular babies.  I worry that the ABA program would be too harsh for him or that it would give him OCD.  But, I know at this time, this is the best for him.  He gets very frustrated and stressed when he is made to do things and I hope the program does not stress him out too much.

Last Wednesday, I also had my first meeting with Dr. Gargus and G. Calvert to discuss future clinical trials for the IDIC 15 population in the Alliance's registry.  He stated that he is interested in looking into a mitochondrial connection to autism, calcium channelopathy and plans to purchase sophisticated EEG machines and conduct sleep studies - all very relevant to Luki's condition.  When I brought up my concern about a possible lipid metabolism problem, he stated that his group is working on a lipid molecule from marajuana that seem to reduce autistic behavior.  I am looking forward to more research and results for testing of this molecule - eicannocannibus?  can't remember the exact name. Although the IDIC 15 clinic was just launched at UCLA, Dr. Gargus said UCLA has a much smaller autism research and treatment center compared to UCI and it caters to wealthy families that may not even need insurance to pay for services.  This was one concern I had about taking Luki to the new IDIC 15 clinic.  How much would it cost us as it would have to be out of pocket since UCLA is out of Kaiser's hub of providers. 

We invited Dr. Gargus to the annual scientific conference at UC Davis Mind Center and he hooked us up to Dr. Kimonis who is heading up the Prader Willi study at UCI.  I hope to meet or speak with her in the near future. 

I question if I am doing everything I can for Luki and wonder if he knows how much I love him.  I wish I could have him just say one word for me now - and an "I love you" would take me over the moon.  I wish he can tell me what bothers him, I would like to know so badly. 

Last week, I also suggested a research idea to the scientific advisory board which involved a possible inhibitor study of UBE3a gene product.  I suggested various ubiquitin ligase inhibitors be studied and assayed on  IDIC 15 brain cell lines, then given to the knock in mice and measure any improvement in autistic behavior.  I was told by Dr. Chamberlain that there are three kinds of ubiquitin ligase inhibitors and the one we are looking for (with a HECT domain) has not been discovered, yet.  This inhibitor has become my holy grail.  In the meantime, it doesn't stop us from trying other experiements on the nature of UBE3a.  Perhaps the ideas I am about to share have been tried and studies already, but if not, it is worth taking a look at.

First, I am curious to know whether the UBE3a gene products in IDIC 15 brain is stucturally and functionally the same as normal UBE3a.  Dr. Reiter's finding that the copy number dosage does not necessarily correlate with the severity of the symptoms suggests that there may possibly be a defective translational product in the presence of the extra UBE3a genes.  Could it be that the translational product of UBE3a undergoes a protein misfolding in the presence of the extra genes such that they do not perform at the same level as the UBE3a from those with a normal copy number?  Do the  subunits dimerize? trimerize? or just look and function differentlyand less efficiently than the normal enzyme?

I am wondering if it is possible to isolate the ubiquitin ligase form the IDIC 15 brain cell line (without alterring their endogenous structure in the process), and then run it on a gel to separate by size and charge and compare it to ubiquitin ligase from a normal copy numbered brain cell and see whether they actually do have the same characteristics.  Could we get even further confirmation through x ray crystallography to see the structure? 

If the gel study shows that the IDIC 15 E3 ligase indeed is different from the normal, what would be the effect of giving these cells more of the E3 ligase that functions properly?  I wonder if such a study is being done for the Angelman Syndrome. 

On the other hand, if the gel study shows that it indeed is the same as the E3 ligase in normal people, then rather than waiting for the discovery of a HECT domain UBE3a inhibitor, why not use the endogenous substrate for the enzyme, which I believe is an ARC protein. What would be the efffect of giving more of the ARC protein?  Could the ARC protein be modified so that it somehow irreversably binds to the UBE3a ligase (maybe form a strong covalent bond somewhere on the enzyme) so that the enzyme can no longer uptake more substrates thus rendering it inactive?

These are some crazy ideas I think of in the middle of the night and I hope to present them to the science advisory board.  Hopefully, it doesn't sound too far fetched and I don't offend anyone's scientific sensibilities.  If nothing else, they can get a good laugh at it. 

Our first visit with a DAN certified naturopathic doctor.

Today, Lucas had his first visit with a DAN certified naturopathic doctor, Dr. Karima Hirani (click here for her home page) at the Hirani Wellness Center in Culver City, who by the way is a REAL doctor with an MD, MPH after her name. This credential was reassuring to me as I wondered the validity of their practice.  The main concern I had was how safe all the supplements I am already giving Lucas is, given I have started them by word of mouth from other parents with IDIC 15 or through various autism support sites such as TACA.  No physician I have dealt with thus far at Kaiser have had anything to say on the subject of supplementation, they would "neither deny nor promote the efficacy of supplementation".

To my surprise, Dr. Hirani complemented me on a job well done with the supplements I have already started, reassured me that they were safe and were rated high (A being the highest rating and D being the least effective intervention) on the list of "Parent Ratings of Behavioral Effects Of Biomedical  Interventions" list (available on Autism.com) generated by the Autism Research Institute in San Diego. This list shows  27,000 parent ratings of various  interventions such as supplementation, special diets, detoxification methods and pharmaceutical drugs that either helped their children get better, worse or showed no effects. The number one beneficial intervention on the list is Detox (chelation) followed by gfcf diet, paleo diet, Vit B12 shots, melatonin (which she said was an antioxidant! I didn't know that! always thought it was just a hormonal  sleep aid),  food allergy treatment, hyperbaric oxygen therapy, fatty acids, digestive enzymes and diflucan (an antifungal)- just to name the top 10 effective treatments on the list.. What was even more surprising to me was that she told me the dosage I was giving Lucas could and should be doubled for maximal effect!  On one hand, I felt relieved that I was not doing any harm to him by the many supplements I have started him on but on the other hand, I wondered if the dosage she was recommending isn't just a bit too much for him, given he is only 22 months old.
Let's take for example, the DHA recommendation: I have Lucas on a daily dose of 800 mg of DHA which even the neurologist said was a bit much, but Dr. Hirani said I should give a mixed EPA\DHA blend at a whopping 1.5G!  She showed me evidence of it helping with learning\cognition, protection against stress, autism, GI issues... I have also read the Japanese article on this but still feel 1.5G at this age maybe a bit too much.  Also, wouldn't it thin out his blood too much creating a risk for internal bleeding?  According to her, this has never been an issue with her patients.  I am hesitant and yet, I don't want to miss out on doing as much as possible for him before the age of 3 when according to scientists, most brain development occurs.  Along with the higher dose of DHA on her Action List, she included Vitamin B12 shots twice a week, double the L carnitine dose from 250 mg which I currently give to 500 mg, probiotic (EnZym-complete DPP-IV II Isogest (given at the start of a meal), calcium powder with vitamin D (important especially if on a gfcf diet), DMG (dimethylglycine, a modified amino acid which has shown to improve speech), Vitamin E Alpha Gamma Blend-through her Wellness Center; and Super Nu Thera.  She recommends Kirkman company for all supplements as this company specializes in products for autism.  She also does NOT recommend the Child Life brand of probiotic and multivitamin I give Lucas.  She said there was "nothing really in it".  Good to know.  Other than the supplementation advise, she recommend I start a gfcf diet, purchase the book "Special Diets for Special Kids", schedule a fasting blood work, get blood work through Kaiser (serum mercury, RBC magnesium, ASO, antidnaseb AB, cortisol, gliadin IgG, IgA, erum zinc, copper); get a NutraEval lab work (worth $800!-not covered by insurance) to test for food allergies and immune system problems, get stool and urine sample for parasite, yeast and heavy metal studies.  She gave me a kit for the urine sample which needs to be sent out to France (yes, France!) for analysis.   I am sure I am leaving some thing out here but luckily, she gave me a recorded CD of all her recommendations for me to study.  She also gave me a contact email for the local TACA leader and recommends I attend one of their meetings.

Whew!

So, on the drive back home as my mind is overwhelmed and spinning, I felt glad I scheduled today's consultation and also quite happy that she was so thorough on all her recommendations.  I have heard about alot of these recommendations through other parents, but it is reassuring to get a professsional's take on it.  The issue I have with actually carrying out the plan is, unlike other cases of autism where the cause is a mystery and a battery of tests need to be performed to find out what actually is causing the problem, my son has a known genetic condition called IDIC 15 that over produces certain factors in the brain causing delays, possible seizures and autism.  His autism is not due to a food allergy, heavy metal poisoning (he is only 22 months, where would he get that kind of poisoning?).  There may potentially be an immune system problem, but how likely would that be in producing autism?  At one point, I would like to carry out all the lab work she recommends but right now, I feel he is too young and aside from his autistic qualities and delays, he seems quite content, eats and poops very well.  If I had all the money in the world, I would do it now, but these tests and supplements aren't cheap and we can't take out a second mortgage to do all these things.  Even I could probably benefit from all these supplementation, who wouldn't?  I think it would be better to wait until he is a bit older and space them out so we don't break bank. Today's consultation alone cost $400 excluding the stool/urine kit and Vit B12. It was money well spent.  Hopefully, we will be able to apply these costs (including future purchases of supplements) to Gabriel's Healthcare Reimbursement Account.  It really is too bad that Kaiser doesn't cover any of this (except a few lab work) and they don't provide their own naturopaths.  Maybe in the future,  they will. I can only hope. 

Living with Autism, the next chapter in our lives.

gorillas and ribbit ribbits

So, we took Luki to the San Diego Wild Animal Park to meet the gorillas, the ducks and giraffes we have been reading about in his bedtime stories.  We spent a nice weekend down in San Diego courtesy of the groupon deal I purchased 6 months ago for 4 tickets to the zoo, one night stay at the Radisson in Rancho Bernardo and breakfast for four.  I was hoping my brother Mik would join us with his girlfriend, Melody, but he informed me that they have broken up recently.  He did come to the zoo with us, alone.  We met up at the hotel which happened to be in the same city Mik used to work so he was well familiar with the area.  He took us to a Japanese restauarnt near the hotel and we discussed why it is  that most Japanese restaurants in San Diego county are owned byKoreans.  We chit chatted about his recent breakup with Melody and how his work was coming along.  Melody apparently is eager to get married and start a family but Mik wants a prenup before any legal commitments.  How romantic.  He also said he quit his job as a director of a electronic startup company  because they never follow his advice and also said he wanted to start his own business.  I have heard this  for about 10 years now. Maybe this time, it will happen.
Lucas fell asleep right away as we arrived at the Park.  This is so like him on top of the fact that he had alot of rice with miso soup for lunch at the Japanese restaurant.  Like mommy, rice puts him to sleep.  I was hoping he would look at the gorillas and start giggling as he does at home when looking at the cartoon picture of a gorilla in his storybook.  Unfortunately, he didn't look directly at them at all.  I am not even sure he was aware they were there. He was very quiet and attentive to the environment around him-the trees, people, other small kids and for that I felt relieved.  He seems to be more aware of his environmnet than before and for that I am grateful.  I get a high on every little milestone and accomplishment he makes.  I think if he really saw the gorillas, he would be scared.   He didn't really care for the ducks or the giraffes and in fact started to cry when the ducks came too close to him.  He didn't really care to pet the goats in the petting area, either.

  Recently, I have noticed that Luki giggles and reacts to specific sounds and words.  He has actually done this around the age of 6 months.  The first word he giggled at was 'purple' followed by Gabriel coughing and clearing his throat which I managed to get captured in video and uploaded to YouTube