Chips, Cheese and Sometimes Marshmallows

Life with 2q23.1 microdeletion syndrome (chromosome 2)

Chips, Cheese & Sometimes Marshmallows? What? Let me explain, if anyone knows my daughter Asia this completely makes sense:) Not only do we have many medical issues but, food issues are one of our major daily obstacles. You'll see...

Asia's List of Symptoms (2q23.1)

Whether or not all of Asia's Symptoms are related to the 2q23.1 microdeletion is unknown at this time:

At this time her symptoms are: Seizures, Hypotonia (muscle weakness), Development delay, Motor Delay, Language impairment, Non-verbal, Ataxia, Behavioral problems, Sleep disturbances, 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.

~This list may be edited with new information~
There are additional symptoms with this rare syndrome that Asia does not have.

Many people contact me to ask what type of testing Asia had to get her diagnoses. Asia had a simple blood test performed which is called a "Cytogenic Microarray". There is a post in the blog that goes over this a little more.

Conact Info and Support Group

2q23.1 Microdeletion Syndrome has a great support group on Facebook. It is a closed group where parents can discuss their questions/concerns about their children with 2q. When logged into FB just search 2q23.1 Microdeletion Syndrome and find the closed group and "join". Also, please feel free to email me with any questions at

Thursday, September 19, 2013

Random Comments

Today I have had a couple of comments from people that have really stuck with me. First, I went to the pharmacy to pick up Asia's medicine refills and working behind the counter was a pharmacist I haven't seen before. I want to say he was "new" because he was really friendly and seemed like he was going out of his way to make conversation. This was really great except the awkward comment he made. He asked me how the medicine was working for Asia. The meds I was picking up were two different types of seizure medication. I said "they are OK, she still has seizures but not as frequent." He awkwardly said "oh I guess that's better" and I just didn't have anything to say back. It has stuck with me all day because is it better? Even one, just one short unnoticeable, not injuring seizure is not better. There is a obvious answer that "yes", it's better to have a couple seizures during the day then seizures all day long. Better would be no seizures-ever. We were told Asia has to go 2 years with out a seizure to have a good status. You would think after watching her have seizures for 5 years it would get easier. It doesn't! If you have ever watch a child have a seizure-there are different severity's of the seizures that can cause a different reaction in you but, it never gets any easier. You are helpless while they looked tortured. It is never easy. Every time you wonder if it is taking something away from her-her knowledge and skills. She can not talk so I don't know what she feels or senses before, during and after. Is there pain? Confusion? Headaches? You would also think that after 5 years they would be controlled after trying different doses of medication after medication and supplements. I guess my response now to him would be-"it'll be better when she doesn't have them at all."

Second comment came from a amazing neighbor who has two children with special needs of her own. I have been considering taking Asia out of her private speech therapy lessons. I brought this up to her and she told be about one of her children's therapist. She had a therapist when she had her kids in intense therapy that said "you need to decide what is best for your family, if you need a break-take a break". Asia gets speech at school but every lesson we have out of school is a nightmare! Her therapist tries to get her to "talk" or "sign" and she throws the biggest fits-last time she was kicking him. She would probably do better if I or her Dad didn't have to be in the same room but the facility doesn't allow it-we are not allowed to leave her alone. I don't know if these 1 hour lessons every other week is doing anything. I am starting to believe the only way to do therapy is intensely-more frequent with longer lessons. I did get in trouble last lesson because we took a lot of the summer "off" and he told me if I didn't stick with the program they wouldn't have her in it-yikes, I felt like I was in trouble in high school or something. Yes, I need to be diligent but even with diligence I don't see her improving or changing her behavior. I think she may need a break-no set time frame just to let her be her and let us be the way we are. I think we allow so many people guide our lives because we are continually looking for anything to "help", that we kind of get wrapped up in how things "should be". Asia gets so much therapy and really, she will learn to do things in her own time. Therapy may or may not expedite her skills-if she gets that upset during the session I cant imagine that it is helping I think we are going to take a break:)

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