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 Though there are over 7,000 rare diseases, there is one thing that all rare disease patients and families have in common- the need to cope with whatever challenges their disease throws their way. This is something that I have seen in my own life and I know that everyone copes differently.
I am the fourth generation in my family to have a hereditary colon cancer disease. Not only have I had to cope with my own diagnosis of Gardner Syndrome (GS), I have witnessed my dad battle Familial Adenomatous Polyposis (FAP) Syndrome, have lost two relatives to a hereditary colon cancer disease in my lifetime, and have also seen my brother diagnosed with GS. Luckily my brother and I have been in “remission” for nearly eight years. Though at times, I still struggle with knowing that I have about a 99.9% risk of colon cancer. I feel very blessed to be in remission. But I still struggle with worrying about what my future holds at times. A little over a year ago, I turned to blogging. For almost eight years, I had a hard time coping and accepting my disease. I knew that GS had a purpose in my life. But it wasn’t until I started blogging, that I started to see my disease as a gift. Somewhere between treatments, surgeries, therapies, waiting for test results, and setbacks, we have to find the strength to keep fighting. Living with a rare disease is an ongoing battle- one that many will end up fighting for their entire life. So how can we cope with this challenge? Here are some suggestions for ways to cope: • Support Groups. Find a support group for people who have your disease. With the growing popularity of social media sites such as Facebook and other support based websites such as Inspire and MDJunction, this is becoming easier. • Talking About It. Confiding in close friends and family members can be a helpful way to cope. • Writing. Whether you blog, or just choose to keep a private journal, writing can help you get your feelings out. • Exercise. It can help reduce stress you may be experiencing. • Prayer/Meditation. For those who practice a religion, prayer or other forms of meditation could be helpful for coping. These are just a few examples. Try a few different activities and see what works best for you. About the Author Alyssa Zeigler is a recent college graduate from Western Washington University. She has Gardner’s syndrome and comes from a family that has a history of hereditary colon cancer diseases. She has a degree in psychology and hopes to help people who are living with rare diseases. In her free time, she likes photography, knitting, playing the ukulele, spending time with friends, and writing. Alyssa is the author of the memoir, The Waves of Life: Going Against the Tide and the blog Learning to Live by Defying the Odds, and the creator of rareACTION. Symptoms of intestinal obstruction Intestinal obstruction causes a wide range of uncomfortable symptoms, including: * severe bloating * abdominal pain * decreased appetite * nausea * vomiting * constipation * diarrhea * severe abdominal cramps * abdominal swelling Some of the symptoms may depend on the location of the obstruction. For example, vomiting is an early sign of small intestine obstruction. This tends to happen after a longer amount of time if you have an obstruction in the large intestine. A partial obstruction can result in diarrhea, while a complete obstruction results in constipation. Intestinal obstruction may also cause a high fever if a portion of the intestinal wall has ruptured. #bowelobstruction #bowel #bowelmovement #boweldisease #surgery #operate #blockage #cartoon #instapic #intestines #toilet #helpforhirschsprungdisease #stomach #tummy #bloatedbelly #nausea #vomit #gas  Harald Hirschsprung was a Danish pediatrician who initially described "congenital megacolon" as well as many other gastrointestinal conditions as pyloric stenosis,esophageal atresia,and intussusception. Harald Hirschsprung was a native of Copenhagen. Hirschsprung, an intelligent student in high school, chose to become a doctor instead of taking over his father's tobacco factory. He passed his acceptance exam for university in 1848 and passed the Staatsexamen in 1855. He was interested in rare diseases concerning the gut throughout his life, and one such, atresia of the oesophagusand small bowel, was the subject of his doctoral thesis, presented in May 1861. He became the first Danish pediatrician in 1870, when he was appointed to a hospital for neonates. In 1879, he was made the chief physician at the Queen Louisa Hospital for Children, which opened in 1879. He was appointed a professor of pediatrics in 1891. Hirschsprung taught small classes on Sunday mornings between 9 and 11, to ensure that only truly dedicated students would come. He was not a great teacher, however, having problems with public speaking and a penchant to focus on rare cases rather than those most beneficial to general practice.#haraldhirschsprung #hirschsprungs #helpforhirschsprungdisease #hirschsprungsdisease   Hey there, just wanted to share a short story about my son Dominic. I have TCHD and unfortunately have passed it onto my son however its affected most of his small bowel too leaving him with only 42cm. We spent the first 6 months of his life in and out of hospital at Sydney Kids but his team is amazing. They didnt think he'd make it at a week old but hes fighting everyday! Hes on a NG tube 24hrs a day and TPN overnight to help his left over bowel adapt and grow and also feed him his nutrients Via a central line in his chest.Hes now eating solids and enjoying rusks. His team told us he will probably never eat and hes gaining weight so well. We'd love to help donate too! I remember how horrible it was growing up woth HD and how uncomfortable and embarrassed I was even at school. Unfortunately my son will most lile never have a pull through and we are ok with that because we dont want him to feel the shame I did. I love what you are doing for kids with HD xx
There is nothing worse than watching your child go through something excruciating and being unable to stop it.
SARHEA’S BIRTH STORYOn a Tuesday morning, my daughter Sarhea (Suh-ray-uh) was born via emergency cesarean section due to her not responding during labor. Three hours later, she was transferred to Cincinnati Children’s Newborn Intensive Care Unit (NICU). On Thursday morning, still in my own hospital bed, I got a call from the NICU saying that they were rushing my daughter into emergency surgery because they had reason to believe her intestine ruptured. I insisted on my own discharge and as soon as my paperwork was finished. My husband and I rushed to Cincinnati Children’s to be with our first child. We waited for hours in same day surgery and finally the surgeon came in to talk to us. Sarhea had a volvulus (where the intestine twists over on itself and cuts off blood supply) due to meconium ileus. He had to remove 12 inches of her small intestine and nine out of ten times, he sees this with cystic fibrosis. SARHEA’S DIAGNOSIS: CYSTIC FIBROSISThis was only the second time I had ever heard the term. The first time was a very brief encounter I had at my previous job at a respiratory pharmacy. My child was officially diagnosed with cystic fibrosis, a fatal genetic disease, nine days later. She stayed in the NICU for 146 days. Cystic fibrosis (CF) affects the lungs, liver, gallbladder, intestines, pancreas, sinuses and reproductive tract. Thick, sticky mucus builds up trapping bacteria, causing infections, obstructions, and irreversible lung damage. The pancreas does not release enzymes to break down food when a person with CF eats (there are a few exceptions, but the majority are pancreatic insufficient). So they deal with malabsorption issues and poor weight gain. Add that to a baby already missing a foot of her small intestine, and that was what our beautiful baby girl faced before she was even two weeks old. She needed a feeding tube placed into her nose and down into her stomach. She could not eat too much at a time, so a feeding pump was used to regulate the amount of food to her intestines. When Sarhea was two months old, we had a gastrostomy tube placed to get the tube out of her nose. She was hooked up to her feeding pump for 24 hours a day. That in itself was a lot to manage along with dealing with everyday life. SARHEA TODAY  We managed though and today Sarhea is a spunky, bright, charming, and amazing nine year old. Shewas able to get her g-tube removed two years ago. But there is still a possibility it will need to be replaced if she is unable to get enough calories by mouth to continue to grow. I now work in the radiology department and over the years, I have met several families whose children have short bowel syndrome. The causes range widely. I was also recently watching an episode of “Monsters inside me” on Animal Planet and there was a boy who ingested magnetic beads and did so much damage to his bowel, they had to remove all but 10% of his small intestine. Can you imagine if there was a way scientists could grow human intestine in a laboratory, made up with a persons’ own DNA so functioning intestine could replace damaged or dead tissue? They wouldn’t have to wait for a donor, worry about rejection medications, or other complications from transplant. Can you imagine my amazement when I found out that this is a growing possibility? HOW NEW RESEARCH COULD IMPACT KIDS WITH INTESTINAL DISORDERSThis research is happening at Cincinnati Children’s as I write. In fact, a recent study published in Nature Medicine has found an unprecedented approach to engineer and study tissues in the intestine. The hope is that one day this technology will allow scientists to grow a section of healthy intestine for transplant into a patient. (More info in the video at the top of this post). This research makes me feel hopeful when I think of all of the children who will be born with meconium ileus, Hirschsprung disease, Crohn’s disease, dysmotility issues, and other intestinal disorders. I think of all of those days with Sarhea in the NICU and at home with the feeding tube and all of the issues that we had. We have had to fight so hard to keep her alive at times. Some parents have lost their children due to complications of transplant and others who were unable to make it until transplant was available. I think about how many lives will be saved. How many kids will be able to live a long life with a more normal childhood, despite having medical issues when they were babies. This research is going to give so many children with intestinal disorders the possibility of a future and so many parents the opportunity to watch their children grow and thrive. |
AuthorI am a mum of three precious children, one suffering from Hirschprung Disease...wanting to connect, share, support and make a difference. 
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