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. 

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