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

Tuesday, June 4, 2013

Support Groups

After Asia finally received a "diagnoses" this last winter I set out to find some support groups. I wanted to connect with families that could understand the frustrations that we were going through but, mainly I needed ideas on how to help Asia. Feedback from other parents can often "save the day".  There are many support groups-some local and others are not. Facebook has a lot of groups-some that have to do with unique chromosome disorders, epilepsy, diet etc. which are great.  I came across a Facebook group that was specifically for Asia's diagnoses 2q23.1-this group has really helped a lot. There are so many similarities in these children that it really helps to discuss topics with this group, vent, or ask for idea's. Especially when the medical field has nothing to give you. There are so many Facebook groups now that there is probably one that would fit almost any need.

I also was introduced to a local support group by a friend. This group has educational meetings, parent meetings, mommy lunches, fun runs and activities for the kids. I really searched for activities outside of home and school that Asia could participate in. Going out and participating in public activities is a whole different experience with a child who has special needs. I worry about her behavior, is she going to throw tantrums, scream, pull some ones hair, throw things... the list keeps going. It may be very difficult to find activities for special needs kids and I have found that there are actually quite a few to be a part of.  I never had information on any of this and with these amazing groups and connections made- I do hear about them. With referral from Asia's physical therapist, we applied to another local support group that is so great for having activities for these special kids. We just joined and they have had something special to do each month so far.  I LOVE having something fun for her to do-this changes our world. Finally some things just for Asia.  She has new friends with their own unique disabilities and she gets to be part of a group as herself. There is so much understanding in these groups and no one will judge on behavior- so there is no hesitation to go out and join the party.

If you need something like this you could email me and I can get you some info. I live in Utah so my support groups may not work for you but, I am sure there are groups wherever you may live. Look for ways to become connected to others in similar situations-when I did that I really starting to hear about different types of activities, meetings, education, product info, therapies & treatments, diet, etc.

This last weekend one of our support groups treated Asia (and her family) to a REAL Soccer game in SLC. I unfortunately had to go out of town but I heard she had the time of her life! Before the game her group got to go out on the field for the National Anthem and I am sure that was thrilling for her:) She got loaded up on snacks and daddy decked her out in official MLS gear.
She's actually really happy in this picture-she puts her hands up to her face and gets all serious when she's excited:)

No comments:

Post a Comment