Where Autism and Down Syndrome meet: Mitochondrial Dysfunction (Part 1)

Being a mom of a child with a genetic desoder, it is like being a soldier. I don't go to the battle feilds; howsoever, I have my own battles against insurance companies, doctors and a mainstream health care system that refuses to accept that genetic is complex, so the "one-fit-all" health policies may not be for everyone, specially for a child that has a GENETIC disorder. We, parents with a chid with Autism, have raised our voices to let people know what has happened to our kids after they have received a vaccine or a medication, and then, our kids suddenly regressed without an apparent reason. To any mom out there: You should know that there is a reason, your child may have MITOCHONDRIAL DYSFUNCTION.  

MITOCHONDRIA DYSFUNCTION (PART 1)

What is 'mitochondria'?

Mitochondria is specialized structures unique to the cells. They are like batteries, that give energy to various functions of the cell and the organism as a whole. So without proper mitochondrial function we struggles with endurance and complete physical activities.

According to the the United Mitochondrial Disease Foundation, Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection

Can medications interfere with the mitochondria?
Yes! There actual a huge list of medications that can interfere with the mitochondria function. Click here to see the list that has been put out for the public by Mitoacion.org.

Scientist research have identified that kids with Autism alone or Down syndrome alone have issues with the mitochondria as an underline cause of many of the issues these kids face. Some drugs, but not all, have been identified to interfere with mitochondrial function. All the vaccines safety studies having conducted in patients without Down syndrome alone or Autism alone. How doctors can guarantee that vaccines are safe for a child with Autism or Down syndrome if there is not a vaccine safety study that includes these kids?

We know now that non-share environmental factors have 50% responsibility in causing Autism. But more studies need to be done with a population with a compromise immune system and vaccines, because vaccines are in the non-share environmental factors category. We know that the in resent years Mitochondria Autims has been identified a s subtype of Autism. The kids with mitochondrial Autism are the ones began to show signs after an infection. medication has interact with their immune system.

Even when there is not a vaccine study proven the connection with the mitochondrial dysfunction, it is scientifly proven that mercury and aluminum can damage the mitochondria, which are key ingredients in vaccines. Pharmaceutical companies may claim that the dosage of mercury and aluminum are very minimum in the vaccines, but what happen if the child has an underline issue with the mast cells. If the child has an issue with the mast cells the child can have an allergic reaction to Mercury or Aluminum, which means that the mast cells attack the allergens. This can produce an anaphylactic or sensitivity reaction. An anaphylactic reaction is life treating. But what happen if the child has a sensitivity reaction to Mercury or Aluminum. The allergic reaction will be slowy and progressive rather than quick and instant like the anaphylactic reaction. A sensitivity to an allergen can even take up to 6 months to manifest because the allergen is still inside the body. The slow reaction can cause internal inflammation, which includes the brain. The inflammation in the brain ins known as ENCEPHALITIS that has also been linked to Autism. Inflammation is the underline cause of many health issue. Therefore, If the patient already has  a disrupted methylation cycle will result that toxins from mercury or other heavy metals won't be efficiently be detoxed, so this toxic chemicals can contribute to mitochondrial toxicity that impterrup the normal mitochondrial function, which result in the inability of the patient to function. This also raise other question, if the child has methylation issues then, Could the child has a MTHFR mutation? So vaccines may not directly cause Autism, but it may contribute to it. 

There is other underline consequesnse that may happen to some kids, but the medical community or the media don't talk much about this.  It can happened that the viruses in the vaccines can infect the gut, which it has happened in some patients. One thing to remember, One of the big manifestation of Autism is GUT ISSUES. We should always remember that genetic is not a cookie cutter, so there is a lot of genetic information merged in a human being which is different from person to person, so following "common sense", every human body react differently to medications/vaccines. Pharmaceutical companies know this!

My kids have all their vaccines, Francis had a vaccine reaction at 3 month old. So I began to delay his vaccines, and he never had another reaction again. Tommy has all his vaccines as well, we didn't noticed any reaction when he was given the vaccines, but we did see it when he was in antibiotic during in 2011 when he got hospitalized due to RSV. Yes, there are certain antibiotics, steroids and sedative that interfere with mitochondria dysfunion.

I am not against vaccines, but they should be used with caution and Parents should be a lot more educated about underline issues as the ones I have explained above. Instead of making this a big controversy, every family should be giving the option of genetic testing to check if a newborn has healthy cells with an apropiate methylation cycle to detox toxins from mercury, aluminum or any other allergen before a newborn is vaccinated. This options is not giving to parents by Medical professionals or even the GOVERNMENT. WHY?

Here is what the court says about a case  that was proven to cause Autism due to inflammation in brain caused by a vaccine:

"...The doctors conceded that the child was healthy and developing normally until her 18-month well-baby visit, when she received vaccinations against nine different diseases all at once (two contained thimerosal).  

Days later, the girl began spiraling downward into a cascade of illnesses and setbacks that, within months, presented as symptoms of autism, including: No response to verbal direction; loss of language skills; no eye contact; loss of “relatedness;” insomnia; incessant screaming; arching; and “watching the florescent lights repeatedly during examination.” 

Seven months after vaccination, the patient was diagnosed by Dr. Andrew Zimmerman, a leading neurologist at the Kennedy Krieger Children’s Hospital Neurology Clinic, with “regressive encephalopathy (brain disease) with features consistent with autistic spectrum disorder, following normal development.” The girl also met the Diagnostic and Statistical Manual for Mental Disorders (DSM-IV) official criteria for autism. 

In its written concession, the government said the child had a pre-existing mitochondrial disorder that was “aggravated” by her shots, and which ultimately resulted in an ASD diagnosis..." Click here to read the full article.

ACTION PLAN
There ere are possibilities that my son may have mitochondrial dysfunction, MHTFR mutation, as well as some degree of Encephalitis; which has empowered me to find the help he needs. Howsoever, my new battle has been getting a doctor who specialized in mitochondrial dysnfuntion, which there are not many doctors trained in this field or doctors who are willing to treat kids with Down syndrome. So I have not stopped searching for a doctor and I found a local functional doctor who truly knows about human biochemistry, so we have been working on shifting and balancing Tommy's biochemistry to support his mitochondria and his entire body. The improvement is huge because  Tommy's gut is beginning to heal and it stated to happened in just two months working with our new doctor. After 5 years working so hard in healing his gut, our hard work is being rewarded! It feels great!

I talk to our new doctor about my concern of Tommy possible having a MHTFR mutation (I think I may have it, too).  He believe the problem is not the genetic, the issue is environmental factors which is "the straw that breaks the camel's back."I think in the same way because I have experienced since 2011.

• Decreasing toxins level in our home.Tommy's toxicity test showed that he has high levels of two chemicals found in plastics. Therefore, I am beginning to put in boxes all toys made by polyester and plastic (Polyester is a synthetic fabric made with plastic).  I already replace most of plastic kitchen utensils with stainless steel, bamboo and ceramic. I am also avoiding the use of harmful cleaning products or any conventional product because it you read the label and they ingredients have a weird sciencitc name, them it is scienteti, harmful and a chemical. 
• Purify in the air. I am getting plans to purify the air, which includes essential oils.
• Avoiding mainstream medications such tylenol, antibiotics, etc. to the maximum extent possible. Even our pediatrician has told me to not give tylenol to the boys, hah!. We use mainly homeopathic medicines and I am glad Walgreens is selling them.
• Reducing internal inflammation with essential oils and pharmaceutical grade supplements. Thyme is a great oil supported by a sciecist study. To confirm if Tommy has encephalitis (brain inflammation), spinal fluid samples should be taken and I don't want him to go though this medical procedure. Our doctor give me order for blood work so we can confirm inflammation in his body with a less invite testing.
• Healing the gut, healing the brain. We have made big progress on it. He is giving signs that his guts is starting to heal and his broken lining is getting repaired because his body is producing his own good flora/microbine.  

Please send prayers in Tommy's way because this is a long journey with a lot of bumps, so I need the strength, the time and the money to keep going with my long list of intervesnions that are not covered by insurance. Regardless the bumps, my action plan is working in my son's benefit.

Best Christmas Brake Ever!

I just felt a relief during the Christmas break. Because I noticed many small changes on Tommy. When I began my journey with Tommy's Autism diagnosis, I didn't know what to do or what to expect. Sensory processing issues was something I wasn't understanding very well. I couldn't understand why he regressed so much or why he stopped being affectionate. Today, the story is switching to a child who is definitely getting more and more out of his own world. Now, I do believe that kids with Autism doesn't have to remind in their own world, there is a window to pull them out. 

Tommy enjoyed for the first time Christmas morning while opening presents. He actually open some of his presents. For the first time, we had a better idea what Tommy would like for Christmas. He is an animal lover, so we got some stuff animals (a Cheetah, a Koala, and orangutan). He also got books from Llama Llama and many more presents. He was very excited with his presents. It was very exciting to watch his faces expressions that he liked his presents. He never before showed this emotional expression for a present given to him.

He also did good in our family reunions with our extended families. He was more comfortable being around people and the noise wasn't batter him as before.  He greeted his Grandma, who lives in Panama, through Skype. He told her: "Feliz Navidad" (Merry Christmas). He learned to say Merry Christmas and Happy New Year.

 Taken advantage of the nice weather the day after Christmas, We went to zoo. Tommy and his little brother had so much fun. In our walk in the zoo, we could watch a Cardinal bird on a branch. He truly enjoyed watching the elephants as well as the seals. It was a beautiful day that Tommy enjoyed as he likes, being outside. But the best of all, he spent time with his little brother and when they walking around the park holding hands, I heard Tommy saying to Francis: "My brother" while looking at Francis. 

During the break, Tommy played a lot with his little brother. It was amazing looking at them interacting. They even played tug war by holding hands, which was spontaneous without therapy intervention. Tommy also was more adventurous because he practiced riding his scooter in the living room. He is getting better and better. This has been the best Christmas brake ever!

Cousins

(A causing is missing in the picture, it is hard to get them all).

Grandma

THE DAY AFTER CHRISTMAS AT THE ZOO 

I don't know what the future grant for Tommy.

Autism is a journey that I didn't ask for, and of course, I didn't want either. 

But at the same time, it has brought a courage from the inside

my heart I didn't know I had. It is not an easy journey,

but I know Autism is treatable and recovery is possible!

New Clinic research find that Down syndrome and autism often coexist

Autism (ASD) rates keeps increasing among the world wide population, which also include kids with Down syndrome (DS). A study, made in England and Wales, suggests that 38% of people with Down syndrome also meet the criteria for Autism spectrum disorder. Nearly 500 children were part of the study published in Autism Research on June, 2014.

I believe that this rate is not far from reality. Kids with Downs syndrome are at a higher risk for Autism because low muscle tone/sensory processing issues can lead to Autism, according to what I read in the book The child with special needs. They also have mitochondrial dysfunction that it is not diagnosed/treated, even when there is enough scientist data that have proven this. As a parent of a child with Down syndrome, I am in the conquered to get my son tested for mitochondrial dysfunction. Howsoever, doctors are not accepting his case as soon as they know he has Down syndrome.

Here is a good example of the exiting data about Mitochondrial dysfunction and Down's syndrome from the U.S. National Library of Medicine, pubmed.gov:

Abstract...Using astrocytes and neuronal cultures from DS fetuses, a recent paper shows that altered metabolism of the amyloid precursor protein and oxidative stress result from mitochondrial dysfunction.1 These findings are consistent with considerable data implicating the role of the mitochondrial genome in DS pathogenesis and aetiology. Copyright 2002 Wiley Periodicals, Inc.

Approximately 100% of kids with Down syndrome have mitochondrial dysfunction, which is easy to spot because most of kids with Down syndrome have hypotonia (low muscle tone) that causes extremely fatigue that make them with low tolerance to high impact activities, so they tiered easily. About 80% of kids with Autism somehow have Mitochondrial dysfunction as well. This is what mitochondrialdiseases.org says about Autism and related diseases:

(Shoffner, JM et al. J Child Neurol. 2010 Apr;25(4):429-34; Epub 2009 Sep 22) The most common clinical observation in children with both ASD and mitochondria disorder was hypotonia, or muscles with low tone, followed closely by “fatigue with activity.” They also found that approximately 60 percent (17 of 28) of these children experienced a regressive form of ASD, a rate of regression that is over two times greater than what is observed in the general population of individuals with ASD.

The U.K. study found some differences on DS-ASD than having Autism or Down syndrome alone. Which is not new for parents who are dealing with the coexisting conditions. Many parents feel they don't belong to either group because when DS and ASD are combined the challenges become more numerous and complex. According to the article, Clinical research:Down syndrome, Autism often coexist published on Simons foundation, Autism Research Initiative:

"The children who have both disorders are more likely to have trouble with small talk and to engage in compulsions and rituals than are children with Autism alone. And they are more likely to be to be hyperactive and to have emotional and behavioral problems than children with Down syndrome alone. They are also more likely to have lost language abilities and other skills they had previously gained than children with Down syndrome alone. However, they tend to be better at making social overtures and responding to other children who approach them than are those with only autism. Given these distinctions, the researchers say, people with the dual diagnoses may benefit from specialized treatment plans."

It seems that having an extra gene make kids with Down syndrome to be more resistant to not getting hard tumor cancer, having heart attack, nor suffering a stroke. It seems that the extra gene may also make them more resistant to Autism in the social area. So the extra gene may have the answers to the cure of some diseases. 

According to my personal point of view, every child with Down syndrome and Autism alone comes with a unique set of challenges that need to be addressed individually according to the child's unique needs. In our son's case, it is not much different even when he has Down syndrome and Autism as coexisting conditions. We are treating Tommy's challenges focused on his unique underline health issues commonly seeing in a child with Autism because he has them and we have done the testing that confirms this. Howsoever, we don't have the major health complications due to his Down syndrome diagnosis. We are also teaching him by focusing on his neuro-development, more than focusing on special education.

I have to make emphasis that there are more appropriate educational and medical treatments for kids Autism than for kids with Down syndrome, even when Down syndrome has existed approximately since the 5th or 6th century. According to Linda Crnic Institute for Down syndrome, it is a fact that Kids with Down syndrome have a predisposition to specific learning strengths and challenges that are not currently addressed in practice in special education.  It is even worse when the child faces two coexistent conditions. At the same time, there are not true medical treatments that target the underline health declines for kids with Down syndrome either, even when science has advanced so much. Just a very small group of parents have discovered that there are underlines causes that can be treated to improve the quality of life of kids with Down syndrome. And yes, many of the underline causes are similar to the ones observed in Autism.

One day, I went to the bookstore and I snapped this photo.

Because it pictures to me that there are not proper treatments 

for kids with Down syndrome after so many centuries.

 If you look at the bookshelf, there are many books about Autism

and what you can do to help a child with Autism. 

If you look at the bottom shelf you will spot the book 

"I'm Down with you," a beautiful inspirational book about 

having a child with Down syndrome

 and the only book on the shelf that about Down syndrome.

There is not a book on the shelf about what you can do

 to help your child with Down syndrome to reach his full potential. 

Books about Down syndrome and Autism as

coexistent conditions almost don't exist. 

THE SKY IS THE LIMIT!