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

Sunday, January 26, 2014

LionHeart Innovations Indiegogo

I am sharing about this amazing new App that is launching on Indiegogo. What a help it would be for so many that have health concerns-show your support. Please check it out and there are links below.

We will be launching on Indiegogo
on Friday, January 24th

 We need your support!!!

·         1 in 3 adults have high blood pressure and only ½ have it under control.[1]
·         1 in 100 babies born each year have a congenital heart condition.[2]
·         Over 500,000 people in the United States rely on feeding tubes for survival.[3]
·         116 million Americans regularly experience chronic pain, including the 36 million Americans who suffer from migraines.[4]
·         26 million Americans have diabetes, and 79 million Americans have prediabetes.[5]
·         1 in 26 Americans will suffer from epilepsy sometime during their lifetime.[6]
·         1 in 300 boys and 1 in 333 girls will be diagnosed with cancer before their 20th birthday.[7]
·         70% of the US population takes prescription medication
Imagine if life, even with medical needs, were simpler and more organized.  It can be.  Lionheart Innovations is proud to introduce the industry’s first all-in-one mobile, medical application, the Pocket Physician. Meant for caregivers, parents, and individual use, the Pocket Physician will allow users to track vital signs and medical events, take notes, store medical records, reference important literature, schedule appointments, calculate expenses and more.
The Pocket Physician was first conceptualized while CEO Tammy Bowers was caring for her son who was diagnosed at a birth with heart failure and a rare genetic condition.  Between a heart transplant, feeding tubes, eight different specialists and multiple hospital stays, Tammy, like others who face these family challenges, was overwhelmed. Tammy and others who care for those with medical needs have few alternatives then keeping track of every heartbeat, sugar level, and appointment by hand. There had to be a better way.
“The vision for the Pocket Physician was not to replace doctors and medical providers, but rather to work with them to give them accurate and complete information," says CEO Tammy Bowers. Caregivers are already required to be specialists, and with this complete app they will be empowered to that end.
The Pocket Physician personal medical application is meant to help overwhelmed individuals, parents, and caregivers provide effective care by eliminating mistakes and saving valuable time. 
A Mom, a son and a Lion heart
Three years ago our son Landen was born with a severe heart condition.  We were shocked and devastated when doctors told us that he was not expected to live to his first birthday. Our little baby boy had a hard fight ahead of him. To symbolize the courage he would need we put a stuffed lion in his bed and we gave him the middle name Lion. To us, the lion stood for strength, courage and hope, all of which we knew our son had, and would need in his fight to survive.  
When Landen was two months old, the doctors found out that his heart condition was caused by a rare disorder called LEOPARD syndrome, a RASopathy. By this time, our little Lion was in end-stage heart failure. Doctors gave us a choice: we could either take him home and enjoy what little time was left, or try for a heart transplant. We knew our little Lion had more fight in him, so we listed him for a heart transplant. On Mother’s Day, at 3 months old Landen received his life-saving gift and also another unexpected gift. Our donor family sent a little stuffed lamb that matched our son’s Lion perfectly, it had been in their daughter’s bed while she fought in the hospital. We now say “Our strong lion has the heart of a little lamb.”
Three amazing years later, we are still grateful for every day we have with our son, but with this gratitude comes unending oversight and heartfelt work. For example, our son takes multiple life-saving medications several times a day and his prescriptions are adjusted frequently. Landen has 11 doctors and has had multiple hospital stays and surgeries. He also has a feeding tube and other medical equipment with which I keep detailed records of his daily calories and fluid needs, and track his heart rate every day.  One night, exhausted from organizing, tracking and managing Landen’s medical needs, I thought to myself, "There has to be a better way… something easier, more convenient and more accurate." The Pocket Physician was created.

Achieving the LionHeart Vision
There is a better way to take care of personal and family medical needs, and our goal is to make better tools accessible to those who need it most. The LionHeart team strongly believes that the Pocket Physician will improve the quality of life for all involved. “We are absolutely confident in our ability to make a product that is secure, private, and versatile,” says TekVital CEO Ryan Bakow.  The app will also be great for those who are just starting to do their own medical care such as teenagers and young adults.  Ultimately this application will provide a strong step towards unifying a very underdeveloped segment of the medical market: personal medical technology.
Knowing first-hand, the financial struggles those who have or take care of someone who has a medical condition can have, with co-pays, reoccurring medical bills, the cost of medications and medical equipment, we want to make this app available at no cost. In this way we will be able to reach a large audience and thereby be in a position to standardize these important tools. In order to achieve our vision, we will need the support of investment such as crowdfunding.  This is a worthy cause and we encourage you to join our team. 
Mobile Features & Benefits
·         HIPAA Compliant, including secure login
·         Organize and track 3+ people
·         Medical Records Drop Box
·         Notes section
·         Track and record more than 10 vital indicators
·         Send notes and information to your doctor
·         Keep track of billing information
·         Send information to Insurance providers
·         Pro-plus allows additional caregiver access for teachers, babysitters, etc…
·         Store reference material on special conditions
·         Keep vital data in one convenient place
Join The LionHeart Team
We need your help even if you are unable to pledge your support here, please help us share this project on facebook, twitter and to your friends.  We want you part of the LionHeart team. 

Monday, January 20, 2014

This time last year! Here's to 2014!

I can't believe I started this blog 1 year ago this month! Wow-a lot has happened this year. It was one year ago I felt like I had lost a child... with confirmation of Asia's 2q23.1 microdeletion syndrome diagnoses. Finding out that Asia's symptoms were related to her genes meant there was really nothing I could do about it-her physical symptoms, her development, her overall health. I look back now at some of the first posts on this blog and it amazes me how much has changed. Last year at this time Asia was a MONSTER! She was physically abusive, screaming and tantrums non-stop, seizures were happening very frequently. I was ready to start seeing a therapist so I could cope. I am going to start by telling you that Asia-has had a amazing year! I am even more excited to tell you that we have started weaning her off of one of her anti-seizure medications!!! Yay!! Last year I removed one of Asia's prescriptions from her diet and it made the world of difference-her personality came back, she was healthier and peaceful. From there it all got better. She passed a goal at school!!!! First time ever. Everyone at school and her bus drivers have commented on her balance and coordination improving and how much conversation she tries to have with them. She is alternating her feet when she goes up stairs (this is BIG). She is starting to "play" with some of her toys. I have seen her use independent thought when asking her a question and then making a choice. One of her prescription medications was being given to help her "drop seizures". The awful, terrible kind of seizures-the ones that have scarred her face. We haven't noticed these types of seizures for at least 6 months. She will remain on another medication because right now she still has seizures-more of the absentee type. So....her neurologist approved the weaning off of Topamax to see how she does. Asia has had a very hard time this year keeping and gaining weight, she seems to have little appetite. She is also still very delayed with speech-she continues to only have a few words. Other children with 2q23.1 speak normally and we have a concern that Topamax is delaying her speech and causing her to have little interest in food. If she reverts to having drops-my hope is at that time she will be able to try CBD instead of Topamax. I am excited to see what this year holds for Asia and my family-Here's to 2014!

I have a cute side note: We all know that Asia loves her cheese. She will only eat the best now-you know, the expensive types from places like Italian deli's. Nothing American or "orange". At this appointment we were telling her neurologist that her appetite was very poor and all she wanted was expensive cheese-he thought this was pretty amusing saying "being a French man I understand"-it was so cute. If cheese makes her happy-she'll get her cheese:)

Sunday, January 19, 2014

USUOEDUCATION-special event


Please share this special event-What a great opportunity for our children who can not normally attend these events.

Access to Music: A Concert for Children with Special Needs and their Families-this event is FREE

Thursday, January 23, 2014 | 7 PM

Utah Symphony | Utah Opera offers an annual concert for children with special needs and their families. We present this concert because we know that many families cannot attend cultural events together because their special needs child acts in distracting ways. We feature our Opera Resident Artists with the Utah Symphony on the Capitol Theater Stage in a special concert where everyone understands the difficulty of keeping these children quiet in their seats. This concert is FREE but registration is required. 

Upcoming event:

Evening at the Opera for the Blind and Visually-Impaired

May 7, 2014- Mozart's The Abduction from the Seraglio

Sunday, January 5, 2014

Happy New Year 2014!!!

Oh my! Anyone else have a record busy holiday season?? I think mid November to now has been busier then ever before-and better. I fell behind on some of my posts! Kids are back in school tomorrow-yay:) so I will have a little extra time. I am really excited about the upcoming year-hopefully new treatments will be available to Asia (cross those fingers), a change in my photography business and a new project I can not wait to share. So here is a little belated "Happy Holidays" and a "Happy New Year" to you all- from us (Asia's Family)! xoxo