Friday, November 15, 2013

Special Needs Spotlight || Asia




Hi Miggy! Thank you SO much for spotlighting my beautiful daughter Asia! I am so excited to be sharing her story and spreading the awareness about her syndrome. My name is Season and I live in Utah along with my amazing husband Clint and our 4 children-Allie, Asia, Kingston and Deacon. Asia was born with a genetic condition which is currently called 2q23.1 Microdeletion Syndrome-I say "currently" because it would be really nice if they gave this a different name:) We didn't have this diagnoses until last winter when we received results from a genetic lab test. When we really realized something was wrong at the age of 2 yrs it took 5 more years to get this diagnoses. In trying to figure out what was wrong, Asia has gone through every test you can imagine from Spinal-taps, biopsies, sleep studies, MRI's and more. Genetic testing is very expensive and is not always covered under insurance. It wasn't offered to us until this last year. This type of testing also hasn't always been as accurate as it is now. The "fine-tuning" of these tests is going to result in thousands of new and unique chromosome disorders. When we received her diagnoses the geneticist told us there were 100 documented cases in the world and he really had no literature on her disorder to give us. That number is growing with these genetic tests. We were referred to a Face Book group, a blog and a couple of articles that had been written. When you receive this type of diagnoses you feel very alone- if your child has been diagnosed with this or if you think this may be a disorder your child has or something similar to, please email me. I will tell you everything I know. It helps so much to have other families to talk to. Asia has a lot of symptoms with this disorder and there are a lot of symptoms that she does not display. At this time her symptoms are: Seizures, Hypotonia (muscle weakness), Development delay, Motor Delay, Language impairment, Non-verbal, Ataxia, Behavioral problems, Sleep disturbances (severe sleep apnea), Short attention span, Repetitive behavior, Aggression, Autistic-like Symptoms, Sensory Processing Disorder (hypo-sensitive), Tongue-tied, Sacral Dimple, Possible Macroglossia (large tongue), Sandal Gap on foot, Constipation, Blepharitis, Hearing loss & Microcephaly. 

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Miggy:  Hi Season!  First of all, I love your name!  Second, I'm so glad to be talking to you about your daughter today.  Thank you so much for sharing her story.  OK so take us back to the beginning...at what point did you know something was "wrong" with Asia?  And at what point did you get a diagnosis?  Do you remember how you first felt and can you compare those first thoughts and feelings with how you feel now?

Season:  Thank you! I am so excited to be spreading awareness about Asia's "condition." When Asia was born I just remember loving her so much--she was a angel, you could tell.  Nothing was went wrong with the pregnancy or delivery. She was past due but no complications. She was a beautiful little girl.  Most of the new born screenings went great--there were a couple oddities. Something minor was she had a couple of odd skin patches right about her lip-almost looked like 2 hearts. These were tested to make sure cancer wasn't present and they were nothing to worry about.  On her backside, where the tailbone ends, she had a little hole (sacral dimple), almost like she didn't seal up all the way.  The other concern was her hearing tests.  They could not pass her on one ear.  They claimed that is was probably liquid that still needed to clear out and I would have to come back for a re-test, not a big deal.  She was a little jaundice but, relaxing in the sun a bit kept her from having light treatment.  Her tongue was tied down-something she did have clipped later on.  She ate really well.  Now, to think back on it-she ate surprisingly well with her hypotonia (muscle weakness).  

At this point we had no idea anything was "wrong."  Everything seemed perfectly fine.  We kept adding to her list of symptoms over the next couple of years.  She gained a ton of weight very quickly and the biggest notice was how slowly she was developing.  At age two she started having Grand-mal seizures and at that point as parents we definitely thought there was a "bigger picture" to her problems.  Even though her pediatrician claimed all her symptoms, including seizures were fairly common in children.  We just received diagnoses for her last winter, 5 years later at the age of 7.  With a lab test called a Cytogenic Microarray-they were able to pinpoint a location on chromosom #2 where she is actually missing information.  She has been diagnosed with 2q23.1 Microdeletion Syndrome.  At the time there were 100 documented cases in the world who had this syndrome--very rare. To learn more about this condition please visit Asia's blog and our support group on facebook: http://www.chipscheesemarshmallows.blogspot.com/

Getting that diagnoses was very difficult but, at the same time relieving. We knew her whole life that there was a "bigger picture" to her problems, she wasn't just a child with fairly common symptoms.  We felt like it all connected somehow. I definitely had a mourning and grieving period, I felt like I had lost the child I hoped she would become. I didn't even tell my immediate family for awhile what we had discovered because I had to work through it first.  We kind of always hoped that she would grow out of some of her problems, and with that thought I probably treated her differently then I treat her now.  Now that I know there is absolutely no way I can change her genes, I have accepted that she may be the way she is forever and she is special and unique because of it. I have finally accepted that I have a child with special needs and have started down that path.


Miggy:  Explain how Asia's specific special needs affect your day-to-day life?
  
Season:  Oh man... ok, I will focus on two main ones.  Asia is pretty much non-verbal.  This means she only has a handful of words that not everyone would be able to understand.  She however, understands us and knows what she wants. This causes a lot of problems in our day-to-day life.  We have a hard time communicating about what she wants to eat, play with, see, where she wants to go etc.  She is not able to tell us if she is hurt, or doesn't feel good.  This is very frustrating and heart-breaking.  She throws big tantrums, screams, hits, and throws objects.  We are always ready for this:)

Second, would be Asia's seizures.  Since the age of two, her seizures have not stopped and she has had all kinds of seizures.  With prescribed medication she does not have them as often but, they are not totally under control.  After the 2 grand-mal seizures at the age of two, she started taking medication.  This medication has changed continually whether it is the type or dosage. This is a symptom that I never forget about, I am constantly looking at her, checking on her, asking someone near her, "Is Asia having a seizure??" We are always on the look out for her safety.  Asia may fall down at anytime.  She has scars on her face from stitches and cuts from banging her head on the furniture or floor, she has bitten through her lips several times.  There is also the ongoing fear of her not coming out of a seizure.  We don't know what triggers them so we are always on the lookout.  We have to explain this to extended family members, friends and teachers to make sure she is safe at all times.  I believe her seizures cause her to regress developmentally.  She used to say words and have skills she no longer has.  I think her ability to learn is hindered by seizures and the medication she has to take to stop them.
                                                                           


Miggy:  What are the biggest worries you face for Asia?

Season:  Honestly, I have accepted the fact that Asia may be the way she is forever.  I don't fret about her education--she can not read, write, color very well and so on. I am not worried about her making friends, getting a job or into college, my biggest worry is for her overall health.  Am I doing all that I can to keep her healthy and feeling good?  I worry what side effects her prescription medications are having on her fragile little body and mind.  Are there side effects that are doing more harm then good? 


Miggy:  I know one thing you and your husband are passionate about is trying to spread awareness about CBD or medicinal marijuana.  Tell us a little about this treatment--why it's so important specifically for people with epilepsy.  And also lets dispell some of the myths surrounding CBD as well!  What can people do to help make this treatment more available for people like Asia? 

Season:  Well, this is a really hot topic right now and has a lot of breaking news--not just nationally but, locally as well.  Yes, CBD-short for Cannabidiol--I am not sure where to start so I will try to summarize... The Cannabis plant (Marijuana) has hundreds of ingredients.  The two we are most interested in are the THC and the CBD ingredients.  THC is the one that causes a "high."  CBD is the one that is proving to be more "medicinal" and a anti-convulsant (stops seizures) and what we are looking for to help Asia and numerous other families.  There are hundreds of strains of Cannabis.  A family in Colorado has put together a organization called Realm of Caring.  What ROC has done is create a hybrid plant that is very low in THC and high in CBD, a plant called Charlotte's Web. Recent testing has shown a .3% THC ratio.  From Charlottes Web, we have a supplement produced called Alepsia-a oil extraction. Alepsia is working for other children who had hundreds of seizures a day, bringing them down to "0".  This is a medicine that is derived from a plant vs. synthetically manufactured.  This is a medicine that as far as we know (per case studies done), has virtually no side effects.  This is a medicine that you can not over dose on.  This is a medicine that could stop my child's seizures and allow her to have a life.  Given to her as a simple capsule or liquid drops.

There are a couple of differences between Medical Marijuana and what we want to see imported into Utah.  Medical Marijuana in other states may have a higher THC ratio. This is not what we are searching for.  We want the supplement Alepsia-produced from Charlottes Web-a Hemp plant, completely non-psychoactive.  There are families that desperately need this medication because no other medication is working for their children who are out of time. They have exhausted all of their resources.  I want to remove Asia from her prescription medications and all the side effects those cause.  Families from all over the country are moving to Colorado to get on the waiting list for this supplement. There are numerous families here in Utah that are prepared to go if we can not get permission to ship it here.  This product is already legal here-we can import it from other countries with it's trace amounts of pesticides and chemicals, it is sitting on our grocery store shelves. We want permission to bring it across state line and have the backing to supplement our children with it.  We want it all to be out in the open.  There is this thing called Interstate Commerce that keeps us from being able to bring this product across state line--Utah can import Hemp oil from all over the world that has a low THC level but because Charlottes Web is being grown in Colorado-they can not ship it here, and it is illegal for us to go and bring it back.

Education is probably the key to being able to get this product.  People don't understand what it is or don't take the time to educate themselves.  They have a immediate perception of the psychoactive characteristics of Marijuana, and not the possibility of another type of plant.  This product would not get our children "high."  I would have no hesitations giving this to my child.




Miggy:  How can people best approach or respond to Asia?  Is there something you wish other people knew so as to avoid awkward or hurtful situations?  

 Season:  Asia loves people. This is good but, this also means she may be a little overbearing with someone who wants to be left alone.  She will walk up to someone and start checking out their clothes, keys, bags, glasses etc.  I want people to just talk to her and react to her like she was a normal little girl.  Let her down easy.  :)  Her eyes light up when she gets someone attention and they have a conversation with her.  Most people know right off the bat that there is something different about her and it's great when they look past it.  People need to be gentle with her feelings even though it may seem she's clueless and she can not communicate or express herself. 

Asia has a high-pitched Shrill. She does this when she is excited and when she is mad.  It can be very awkward.  It wouldn't bother me at all if people just ignored this.  I have received my fair share of dirty looks from strangers when Asia acts out and I wish they could trade places for a day.  When she throws a tantrum in public I really wish people knew her situation--she can not speak.  How frustrating do you think that would be-to be unable to communicate?  People just need to be more sensitive--you never really know other people's circumstances.


Miggy:  What is the biggest lesson you've learned since becoming Asia's mom?   

Season:  I definitely think I have learned a few lessons.  :)   Patience, being one. Trusting your gut.  Never stop researching.  Love unconditionally.  Share my experiences and look for connections.  I think the biggest lesson I am still learning is to take what life has given me and do something with it--hoping to help Asia and others like her.

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Thanks so much Season for sharing your sweet Asia with us today.  Those eyes!  What a sweetheart.  I think this spotlight will be so helpful for other people today.  First, just knowing that it can sometimes take a long, long time to get the right diagnosis.  I can't imagine how frustrating that must have been, but thankfully you finally got it and hopefully other parents will feel a little comfort knowing they're not the only ones.  And like so many mama's I once again hear your plea for others to be less judgmental because we really don't know what someone else is going through.  Always a good thing to keep in mind.  Thanks again for sharing your story and providing so much information on Asia and her condition in case someone else is seeking similar answers.  

As always if you or someone you know would like to participate in the special needs spotlight please email me at thislittlemiggy at gmail dot com.  If you've already emailed me and haven't heard back, I promise I will email you back...it just takes a while sometimes!

Have a fantastic weekend.  

6 comments:

  1. Asia is so beautiful! Those eyes are hypnotizing! At the beginning of the post I kept thinking about Charlottes Web- and then you brought it up! I can't wait for the controversy to be over so these tiny, precious children can receive the miraculous, natural 'medicine' which I believe God put here for that very purpose. Thanks for sharing Asia's story.

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  2. Anonymous9:13 PM

    What a absolutely beautiful child!! I hope someday soon these other medications are available for people with similar disorders. I'm positive the side effects and or long term effects if any at all will be much safer than anything being handed out by the pharmacy.

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  3. Anonymous9:20 PM

    Asia is stunningly beautiful!!! I hope soon she will and all other effected by these types of disorders will have access to the medication they desperately need and deserve.

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  4. what a beautiful girl, mum and what strength. Thanks for sharing x

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  5. What a beautiful little girl! Lots of similarities to Rett syndrome (what my daughter has). I wonder if some of the research in that field might help Asia and others like her!

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  6. What a beautiful girl! I know how you feel about waiting a long time for a diagnosis. We still don't have one diagnosis, but many, for our oldest girl. Good luck in your journey with her.

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