Collectively, rare diseases are not so rare. There are 7,000 rare diseases affecting nearly 360 million people around the world. Consider this: If everyone with a rare disease lived in one country, it would be the world’s third most populous country. Those who have rare diseases, and those that care for them, know how long and frustrating the journey can be to find help.
We first met Daizha Hill at the Global Genes Summit in California in 2016. Living with a rare disease isn’t easy. It can be especially difficult for a high school teenager. This is her story.
My name is Daizha M. Hill. I have one of the rarest forms of a disease called Generalized Lipodystrophy. It took my mother almost three years to receive an official diagnosis. The hardest part of living with my disease is maintaining a very restricted diet. I’ve endured many hospital stays and testing to try and stay healthy.
What is Lypodystrophy?
Lipodystrophy is a problem with the way the body uses and stores fat. There are numerous forms of lipodystrophy that are genetic (inherited) or acquired (not inherited). It often affects the fat under the skin and can change a person’s appearance. Someone with the disease may look sick, or much older than they are.
If you don’t have a rare disease be thankful. When you see someone like me don’t be afraid. People with rare diseases aren’t contagious. You don’t have to move away from us or wash up. You don’t have to worry if you can catch it. It’s a genetic issue. We’re not freaks. We are humans with a failure in our genetic makeup. We are uniquely made by God. We desire to live a lifestyle just like everyone else.
If you think you might have a rare disease, or if you’ve been recently diagnosed, my advice is to gather as much knowledge as you can. Read, read, read from A to Z. Find out your options. Get a wonderful medical team for treatment and document everything in your process. Check for clinical trials related to your rare disease. I was in a clinical trial and it was life-changing for the better. Don’t be afraid to try a trial study. Many people with a rare disease have limited options. What do you have to lose if you try? Being rare, you’re at risk if you don’t.
I try not to let my rare disease get in the way of living my life. I enjoy movies, reading, church, traveling and quality time with my family. I am a fun-loving person with dreams of someday owning my own photography studio. In ten years I would like to see my photography in studios and on billboards
I was in a clinical trial and it was life-changing for the better.
Having a Child with a Rare Disease: What Parents Need to Know
Having a sick child is hard enough. Having one that no one can seem to figure out what might be wrong is heartbreaking. As a parent you want and need answers. You desperately seek information and a diagnosis. That’s what Daizha’s mom did and she never lost hope. This is her story.
What a difference life is after prayers and time. In 2003 I was crying and on the computer surfing every medical site I could find to offer any reason why my baby was so uniquely different medically and why no one, NO ONE was understanding or even taking my concerns seriously. For four years I searched. My hard fighting and persistence paid off. I was blessed to find in my research information about rare diseases. This led to several trips to many hospitals and a multitude of calls to any and every doctor that would listen. After so many sleepless nights and a slew of journals that I kept of my daughter’s life-changing events, I was able to convince a genetics doctors to read my notes, to look at my photographs. I shared with this doctor that I believed my daughter had a rare disease and pre-diagnosed her with Lipodystrophy. That doctor said the magical words, “I agree with you.” It was such a relief. Tears of joy streamed down my face.
I am so thankful for the support and bond that is being shared daily among all of us freely fighting for change and a cure.
I returned to our pediatrician with this news and she asked, “What can I do?” I explained that I had seen reports about an NIH study in Maryland in 1999. It took another six months to locate anyone associated with the study. After a trip to hell and back, I finally found one of the researchers. I knew I would have to fight with my insurance company to approve an appointment outside our network. Our pediatrician helped us battle. She was, and still is today, a jewel and team player. Daizha was granted one visit to the University of Maryland to see the former researcher. I was looking for confirmation of what my baby had.
I knew I had to be prepared to convince the doctor to hear my story. My heart was beating so bad you could hear it for miles. I feared a letdown. I couldn’t bear to have another doctor look me in the face and say it’s all in my head again. After an exam and some lab work the doctor finally offered some answers. “Yes, Daizha has Lipodystrophy.” It was a bittersweet result. With that diagnosis of course I wanted a cure. That wasn’t possible. That was the bitter part. The sweet part was this doctor listened. After years of praying and crying and hoping. This was certainly not the end of our journey. In many ways it was just the start. After years of treatment and complicated I.C.U. stays, more testing was done and we were told Daizha’s rare is rarer than we thought.
Here we are 13 years later and my little angel with a broken wing is no longer in a club as a single member but part of a group that includes members with various mutations of this Lipodystrophy. It is truly not a club of choice for any member. But it is a club of survival and where there is appreciation and respect for one another, a chance to speak freely and to be one’s self without judgment.
We are joined in this club by one common thread—a broken wing to a special group of angels. To them I say you are all strong in spirit and in heart. You have learned to smile over frowns and hold back tears till they recycle back into the background of your eyes. You step out each and every day in search of a regular day of work, school, being that wife, husband, sister, brother, aunt, uncle, parent, grandparent. Living life and blending into a world that is clueless of the life of all these members… The stares, the blank face looks. The judgment or accusations of why you look different. I am so thankful for the support and bond that is being shared daily among all of us freely fighting for change and a cure. Rare is not as rare as you may think. May God bless each and every one of you.
Amy Raymond, PhD, Director of Therapeutic Expertise, Center for Rare Diseases
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