Hello everyone! My name is Jennifer. I was born with a rare condition called Situs Inversus, this is where my organs are a mirror image of one’s normal anatomy. Example my heart, stomach and spleen are on the right side instead of the left and my gallbladder and liver are on the left instead of the right. Some people born with this condition will have no other complications or underlying conditions that will affect their life. However, some, as do I, will also have an even rarer condition called Kartagener’s Syndrome, also known as Primary Cilla Dyskinesia (PCD). Proper movement of cilla is necessary for the normal functioning of many organs and tissues. People with this disorder have impaired or immobile cilla throughout the body. In addition to lung, ear & sinus disease, genetic defects that cause PCD can affect all areas that rely on ciliary motility, including reproductive organs and ventricles of the brain. Gastric issues and migraines are also issues for people having PCD. However, the biggest concern is that one cannot clear the mucous and fluid in their lungs and airways. This leads to frequent respiratory infections. On-going (chronic) airway infections begin in early childhood and can lead to permanent damage called Bronchiectas. Because there currently are no cures or regenerative therapy options for PCD, treatment and management of severe lung disease in PCD is focused on managing symptoms, including aggressively treating infections (often requires IV medications and permanent venous access lines), using supplemental oxygen, and keeping the airways as clear as possible. If these measures are not sufficient and the patient progresses to respiratory failure, lung transplantation is the final option.
Well that is the medical background to my condition and disease, NOW here is my story. I was born in October of 83 in a small town of West Virginia. Shortly after my birth I aspirated into my lungs. When the doctors sent me down for an X-Ray to look at my lungs the technician actually thought he had flipped the image over or marked it backwards, so he took another image. When it came out wrong (or so he thought) again he went to the doctor and explained I think the machine is broke because this keeps printing the image backwards. After the radiologist and my doctor took a look at my images they grabbed the medical books and they had to look up what this rare finding was....Situs Inversus. At first, we didn’t think it was going to be a big deal, research showed many people have no problems with such a condition. However, my childhood proved to be one of many respiratory infections, sinus infections, and ear infections. We kept treating them; diagnosed me with asthma and treated that as well. I finally had to get a Ear, Nose and Throat doctor. It was then we would finally start to find answers. After a sinus surgery, tubes, and tonsillectomy I was still getting sick. My doctor began to research my condition and learned of Kartagener’s Syndrome (back then it was better known as this, now it as been adapted to the name as Primary Cilla Dyskinesia- PCD) which he thought may just be the cause of my problems. To determine this he would need to do a biopsy of the sinuses to look at cilla under a microscope for the motility of it. We determined my cilla was immobile, therefore, I had Kartagener’s Syndrome. At this time my doctor recommended we also find a pulmonologist, so we did and started preventative care instead of just treating me when I became ill. This did seem to slow the progression of my lung disease and I enjoyed life and being a kid more. However, fast forwarded 20 years and here I am with 24 hours a day oxygen, I am on a mini vent called the trilogy at night to sleep, 4-6 hours a day of lung treatments (nebulizers and the vest - a percussion system to help me clear mucous) and waiting for a double lung transplant. Last year I was hospitalized 10 out of the 12 months and in ICU 4 times. I had 9 surgeries and this year I have already been in the hospital once and currently on home health trying to kick yet again another strong resistant strain of pneumonia.
So, why do I write to you, well my family and I need your help! My doctors in Cleveland Clinic have told me I need to raise $25,000 for this double lung transplant. This will cover the expenses that my insurance will not. For instant, I have to move there and live for three months after the transplant and the insurance doesn’t cover these living expenses, as well the family member(s) who will have to miss work to stay with me during these three months. There are several medications that are not covered and the flight for when I get the call “We have a set of lungs for you!” What a joyous day that will be, however the insurance doesn’t pay for the flight. So this fundraiser will help me and my family out.
Also, I decided to start telling my story for a support system for me and for others. This is a scary process and being so rare I am hoping to reach out and find someone else that has the same condition or even going through a lung transplant. I know what the books and doctors say, but to hear the experience from someone else can help so much. Each person will experience things differently and find things that work for them in each situation, so having this sister/brotherhood of people to lean on would be something I believe we could all use that would be well.... priceless!
So follow my story the good and the bad if you like. I will for once in my life be vulnerable on social media. I usually would only post the perfect picture and take 100 just to get that one or filter the heck out of it, but on here it’s about what’s real! No sugar coating this story anymore.
Thank you so much in advance for all those who donate, from the bottom of my heart I can not thank you enough! These lungs will give me a life and time with my family that I can only dream about right now so thank you, thank you!!! And if you can’t donate I understand, but thank you for following my story and sharing it. I hope I can help someone else during their time of need even if its just in comforting them or inspiring them. Together we all can make a difference, if we just try each day to set out to do one thing; remember for no act of kindness is too small.
Till my next post ....... Sincerely,
Fundraising team: Breathe Easy for Jennifer Skaggs (4)