Skyler Blanford

This is our beautiful 19 year old daughter, Skyler. Skyler was born with 2 genetic conditions that have been making her quality of life a struggle for over 10 years.  Skyler has Ehlers-Danlos Syndrome (EDS) Type 3 Hypermobility and Hereditary Angioedma Type 1.  EDS is a connective tissue disorder in which her body produces faulty collagen throughout all of her blood vessel walls, skin, joints and organs, making all of these body parts at a weakened state. Skyler receives weekly infusions of Albumin and IV fluids through her central port to help with the havoc that EDS is causing her body which is severe dehydration, POTs (Postural Orthostatic Tachycardias), Dysautonomia (autonomic nervous system dysfunction), Gasteoparesis (stomach muscle issues affecting her digestion) as well as 3 compressions in her main veins throughout her body, Mays Thurner Syndrome (left Iliac vein), Nutcracker Syndrome (left renal vein is compressed at 90%) and Median Arcuate Ligament Syndrome (MALS - compression of the celiac artery and surrounding nerves). Skyler had a stent placed in her left iliac vein for Mays Thurner Syndrome to reduce the swelling in her left leg and help prevent a blood clot in 12/2018, but still needs 2 more surgeries for the Nutcracker and MALS. She had surgery in 7/2019 to remove her gallbladder that stopped working, in which we almost lost her twice.  We thought she had an anaphylaxis reaction to morphine that was administered for pain, but upon testing her found out she is positive for a condition called HAE (Hereditary Angioedema ) Type 1. HAE Type 1 causes Skyler recurrent attacks of severe swelling in her abdomen and airway.  This is brought on by a mutation in the C1 Inhibitor protein that means that her body releases too much bradykinin which promotes swelling and without the proper C1 inhibitor protein in her body, these swellings become life threatening.

Unfortunately these attacks can be brought on by stress, injury, surgery, dental work, illness, or anything the body can not handle and can happen at any time every day.  We are learning that  Skylers EDS complications can cause the episodes to happen more frequently.  Skylers HAE Type 1 is being treated with 2 medicines, one is called Takhzyro, that can possibly offset her episodes by taking an injection in her stomach every other week as a prevention to help control the amount of attacks she is having weekly.  Takhzyro cost $52,968 per month and $635,000 annually per patient WITHOUT insurance.  Fortunately we have insurance! It is covering a large portion of the medication however, it is not 100% covered.  Her emergency shot called Firazyr, that is administered in the stomach as well upon an episode, cost $11,647 per shot WITHOUT insurance, but thank goodness our is picking up 3 shots at NO COST every 14 days. At the rate Skyler is having episodes, she is using 12-16 shots per month. The Firazyr has been working wonderfully until she had 2 attacks in one day and had to go to the ER to protect her airway.  The hospitals will not carry the emergency medicine on hand because it is too expensive, so her doctor is making sure we have it on hand. It is called Ruconest. The cost is $6,237 per bottle WITHOUT insurance and Skylers level of HAE requires 2 bottles an episode, meaning double the cost. Insurance has been wonderful and we are working on getting approved for financial assistance for this drug, but has not kicked in as of now.  Insurance covers the majority of the cost, but even our portion is becoming overwhelming.  As we are coming into the first of 2020, all of our deductibles and co-pays will have to be met before insurance will pick up their portion, so any help to cover these would be amazing and allow us continuous support for Skyler. Each episode can bring unexpected expenses, depending on whether an ER visit is required and our goal amount is based on what we have experienced in 2019, it is an unknown of what is ahead. 

We know this is a lot of information to take in, we encourage you to research each one of these conditions and educate yourself, as there are so many people undiagnosed because of the lack of knowledge of these conditions in the medical field.  Skyler is such a bright young lady and has been such an integral part of figuring out her health that it has sparked her to want to become a nurse and get her BSN.  Skyler takes online classes from Eastfield Community College from home, as going to school has not been an option since the end of 8th grade year.  Even with all of this going on, Skyler’s continued goal is to help others so their journey with these conditions does not have to be so long until they are given a diagnosis and receive the help that is out there. Because these conditions are both so debilitating to her body, we are working on getting her a wheelchair so one day we hope she will be able to go to classes on campus and have some normalcy to life. Your support to help make this all happen would be greatly appreciated.  But most importantly, we ask for your continued prayers for Skyler, her doctors, nurses, home health team and family. It takes a team to make this all happen and we have been so blessed by all of the team players, especially God.  We thank you for your support of our Skyler and may God bless you and your family.