The JEM family, Joseph (9), Emily (12), and Mandy(that's me) was established in 2009 when the we left their father, who was abusive. Our journey since hasn't been simple, but our home is filled with love and laughter.
Three years ago, Emily, who could once hula hoop for an hour straight and hike the steepest of trails, started experiencing leg pains and weakness. She became tired easily, started getting dizzy, falling, and even had trouble getting up from the floor. Soon, even a trip to the grocery store was too much. We stopped going to the zoo, mall, and other outings that she loved because they took too much out of her, all while her doctors remained stumped about her condition, treating her pain and recommending physical therapy, which she did diligently, even though she cried after every session. In the last 3 years, it feels as if she's seen almost every kind of -ologist, over 45 appointments at Children's Hospital alone. This summer, we finally made some progress on understanding the cause of her symptoms, when she was finally diagnosed with dysautonomia/POTS (Postural Orthostatic Tachycardia Syndrom) and we were told that the full body rashes she was getting were likely due to Mast Cell Activation Syndrome. We also learned it is likely that she has a form of Ehlers Danlos, a connective tissue disorder that would explain her symptoms, including pain, dislocations in her ribs, hips, knees, and shoulders, hypermobility, stretchy skin, trouble healing, and more. Emily recently got her own wheelchair, which is alleviating some of the pain she experiences and makes longer outings and navigating her school possible.
In order to be fully diagnosed and get appropriate treatment, Emily needs to be seen by a geneticist who will test to determine the type of Ehlers she has and make treatment recommendations we can seek locally. The wait where we live is 3 years, but we were able to find an expert in Dallas who can see her in October of this year (2017). It is imperative that we understand what kind of Ehlers we are dealing with, as failing to treat it properly could lead to permanent damage. Already, she has lost significant range of motion in her ankles and has contractures in both feet. It is possible she will require surgery to correct the changes to her feet, Achilles tendons, and ankles.
We need some help to make this happen. I am expecting at least $4500 in out of pocket expenses for testing and treatments before the end of the year, in addition to the transportation and lodging costs, because the geneticist needs to test all three of us. At 9, Joseph is about two years behind Emily in his symptoms, so we need to find out what form each of them have, and my information may help. Now that we understand Emily is on the Ehlers Danlos dysautonomia spectrum, there's no missing the fact that Joseph is as well, and this diagnosis explains some of the complications in my pregnancy with him and the health issues he had when younger. He's started experiencing his own slow healing, subluxations and dislocations, as well as similar pains. If we act quickly, we can be proactive in his treatment.
I'm their sole caretaker, privileged to have full custody of the children, and currently work a reduced schedule to make sure that Emily gets to all of her appointments and to get my own treatment for a recent concussion. The kids are my priority and I have an amazing employer, but missing so much work means my income is reduced and I'm taking unpaid time for a lot of these appointments.
The goal I've set would cover our anticipated out of pocket expenses, travel and lodging in Dallas, replace a portion of my missed income, and help defray the costs of ring splints for Emily. We are hoping that we will not need a second wheelchair, for Joseph, in the future. After the test results are back, Emily and Joseph are expected to need follow up care with a cardiologist, immunologist, and physical therapist. We will also be adding a ramp to our rental home and eventually hope to buy Emily a bigger bed, as the splints she wears at night make it difficult to get comfortable in her twin bed. I've been gradually replacing our furniture to make our home as comfortable for her as possible.
Ideally, we'll raise as much as possible before our trip to Texas, which is the first week in October.
Our family believes in giving to the community, giving to organizations that have helped us in the past, but we find ourselves in need of help at this time. You should know that Emily and Joseph are kind, intelligent, and empathetic children often praised for the way they treat their classmates and friends. They're good people and both would like to be doctors themselves when they grow up, because they want to help others. If we get their medical conditions managed properly, this is still a possibility for them.
I have always said that one day I'll give back all that we have gotten, times 10, and that applies to any help you are able to provide at this time.
Mandy, Emily, and Joseph
- Ellen Orleans
- Tebbi Purvis
- Carrie Serna
- Patty McCrystal
- Trish Hopkinson