World Rare Disease Day-Meet Alejandra

Patient Stories of Hope and Inspiration

'Meet Alejandra!'

My name is Alejandra Islas. I'm a kindergarten teacher, living in Mexico City, Mexico. I was diagnosed with Hypereosinophilic Syndrome (HES), in 1998, at a time when medical databases showed only six cases with symptoms similar to mine, and with a life expectancy of 6 months.

My symptoms started 13 years ago, while on vacation in Argentina. Initially I had itching on my torso, but quickly started to feel tired, breathless and have heart and lung pain. In what seemed unrelated, I started to feel utter discomfort in my feet. It was as if they were burning, got swollen and I could barely walk on my own.

An initial TAC and x-ray of my lungs showed some strange moving lesions which appeared to be related to parasites. Also my feet continued to bother me and I wasn’t feeling my legs from the knee to the bottom anymore and some skin lesions started to appear… they looked like chickenpox or scarlatina on my torso, vasculitis on the face and a trail of insect bites around my calf. I went to see a dermatologist, who was baffled by them but didn’t think they were a serious condition because the symptoms didn’t match to those of an infection, and he didn’t think the heart pain was related.

Luckily, my father and brother had worked in the pharmaceutical industry, they knew blood tests could reveal something still undetected. A blood test showed that my EOS count was 79,000 (when the upper limit was 6,000). Tests to check for lupus, vasculitis, scleroderma, parasites and more were ordered, but all showed up negative. Some tests were even sent to the US to the CDC in Atlanta, GA, however at that time no one could determine an explanation for my symptoms.

Over the next few months I was feeling worse and worse. Chest pain, tiredness, general sickness, awful pain in my abdomen, joint pain and hot bruises all over my body, and I couldn’t even walk anymore. I had lost several pounds and now I could barely eat.... my body started to reject all food.

In the hospital, doctors prescribed four steroids to at least calm down the pain and to see if that would help with the hypereosinophilia, and it did! And I was finally diagnosed with HES. I am currently treated with a low dose of inhaled beclomethasone, although recently it has become really hard to find around the world.

I have a strong faith and I am certain God performed a miracle where my physicians, all of them at Medica Sur Hospital, in Mexico City, have been His instruments. And of course, I also thank God for my family, without it wouldn't be possible for me to be here today.

Although I live in Mexico, I wear jeans and made denim ribbons to share with family, friends and all those who ask about the meaning of them. I also wear my special bracelet made for this purpose. I am glad to be able to contribute my experience and advice to support others with HES!!

Thank you and God bless you all!!

Alejandra Islas
Mexico City, DF

World Rare Disease Day-Meet Michelle

Patient Stories of Hope and Inspiration

'Meet Michelle!'

I am 49 year old, single mother who was an US Air Force Reservist, and also worked as a Nurse for 15yrs. In 1999, some strange symptoms started to occur, like bumping into walls, tremors, falls, numbness, tingling, in feet, legs and hands. I also experienced bowel and bladder problems, all within a month that I was off work. I went to a top specialist at UCLA, U of M Ann Arbor, and a few others. I Was told I was a difficult case after many test and exams. I had two separate groups of symptoms. One was cerebellar, which was confirmed by MRI that showed atropy of cerebellum, but there was no answer for my Upper Motor Neuron signs. And most testing was negative or normal.

After 11yrs of having a partial diagnosis of SCA (Spinocerebellar Ataxia), unidentified type. They finally found a rare abnormal gene mutation SET X (or Senataxin). This gene had only been discovered in 2004 and they are still learning about it. They found the UMN disease and my very rare diagnosis is ALS4 with a cerebellar ataxia overlap. I am joining as many clinical trials I can to help find treatment and a cure. I am an advocate locally as part of the Detroit Area Ataxia Support Group. And I dedicate as much time as possible to spreading awareness. I am a member of the National Ataxia Foundation and now the ALS foundation. I am still walking with a walker short distances and waiting for my customized wheelchair to be delivered. I take online classes at University of Phoenix for Computer Information Systems and Graphic Web Design.

Michelle DeCiantis
Michigan

World Rare Disease Day-Meet Anna

Patient Stories of Hope and Inspiration

'Meet Anna!'

Fourteen and a half years ago, our lives were changed forever. Our one week old baby girl was diagnosed with a disease that we thought was created in a novelist's imagination. We quickly learned that it was a very real, yet rare, disease that would nearly claim our daughter's life.

Our daughter Anna was born with Maple Syrup Urine Disease, a strange name for a potentially fatal disease. Since she was a week old, Anna's life has been dictated by a very restricted diet, frequent blood tests, and constantly fearing elevated amino acid levels that lead to metabolic crisis. Yet she has not let these challenges hold her back from her ambitions.

Anna competes in track and soccer through Special Olympics. She also participates in the yearbook committee at her middle school, and volunteers at an equine therapy ranch. She strives every day that although she may live with a rare disease, this disease will not keep her from enjoying life to the fullest every day.

Paula Ruter
Michigan

World Rare Disease Day-Meet the Wilson Brothers

Patient Stories of Hope and Inspiration

'Meet the Wilson Brothers!'

My brother, Marshall is my Hero! He saved my life. At 17 months of age, he was diagnosed with a RARE Leukodystrophy called Krabbe's Disease. A genetic disorder affecting the nervous system and it's communication to the brain. There is NO CURE and it is fatal!

Once my family and our doctors determined what was affecting my brother, we were encouraged to have me tested. Exactly one month after his confirmed diagnoses, I tested positive for the same disease. The only difference between the two of us is that I have no symptoms and became a candidate for a cord blood transplant. At four months of age I had a CBT and though I had complications with the chemo treatments, the transplant has been considered a success, as a recent MRI showed no disease activity. Thank You Brother for Saving My Life!

Marshall is now 2.5 years of age and I am 15 months old. Though I am delayed a bit, with all the therapies, love of my family, and spiritual pep talks from my brother, I am thriving, and achieving my developmental milestones, just as my brother hoped for. Without his heroism, I would not be able to SEE my brother, play with my toys, watch a flower bloom, and kiss his angelic cheeks (my brother is blind). I would not be able to giggle and babble and one day tell my brother that I love him, ‘Thank You’, and that he is my hero (my brother never spoke his first word). I can hear my Mommy's voice sing to me, my Daddy talk about fishing, and the fun activities of my brothers and sister (my brother is deaf). I can roll everywhere and sit up; I even get to hug on my brother. I get to smile, eats solid foods, get older. I will go to school, possibly college, and someday I hope to marry and have a family of my own and tell my children the story of my gene family. MY BROTHER................MY HERO!

Tammy Wilson
Oregon

World Rare Disease Day

Everyday during the month of February and leading up to World RARE Disease Day on February 29th, the Global Genes Project in partnership with the RARE Project will be featering stories of Hope and Inspiration. They are asking that we share these stories and I would love if you would pass them along too....


Patient Stories of Hope and Inspiration

'Meet Peyton!'

Peyton isn't that much different than any other four year old if you ask her. She loves to color and dance and she is a ‘Yo Gabba Gabba’ fanatic. Luckily, she is still blissfully unaware of the stares directed her way when we go to the grocery store or the playground. Peyton was born with Nager Syndrome, a very rare condition that results in craniofacial and upper extremity anomalies. As a result of her lower jaw not developing fully, she underwent a tracheostomy at 3 days old to breathe and a gastrostomy at 3 weeks old to eat. She has severe bilateral hearing loss and has been wearing hearing aids since she was a few months old. She has had two jaw distractions and three hand surgeries. Her life has been filled with xrays, CT scans, doctor appointments, hospitalizations and therapy sessions.

Despite the rarity of Nager Syndrome, with the internet we were able to learn much more in the first few days of her life than what the hospital could provide from their outdated genetics books. We have been able to reach out to other families whose children have Nager Syndrome and have even met a few in person. We are blessed to have strong support from our family, but through the Nager and Miller Foundation we have also felt part of another "family" who understands the unique challenges and joys that we experience with a child like Peyton. Through our blog www.peytonsparents.blogspot.com we have had many families reach out to us who have children that are newly diagnosed. We even had a family contact us before their child was born, and seeing Peyton's smiling face brought them hope in a time of great stress.

The Global Genes/RARE Project, is just one more "family" that we can feel a part of. In December, I received a bracelet as part of the 7000 Bracelets for Hope project. Although I have never met the jewelry designer, Eileen has made me feel such hope that there are others just like her in the world who will make Peyton's path easier.

Thank you!

Tracy Smith
Utah

World Rare Disease Day-February 28th!!

Don't forget that February 28th is the 3rd Annual World Rare Disease Day.  There are an estimated 7000 rare diseases affecting 30 million people in the United States alone!!  To me these numbers were upsetting but the next number out right shocked me....out of the 30 million people affect 75% are children!  After reading this I figured that most people either know someone close or have met someone with a rare disease.  This is your chance to WEAR THAT YOU CARE.  Challenge your friends, co workers, and family to wear jeans on Monday, February 28th. Get a collection going at work or school...pay $5 to wear jeans....there are 30 million people counting on YOU!

Click here to find out where to send donations $$$$

World Rare Disease Day-Wolman Disease

What is Wolman disease?
Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. In addition to fat deposits, calcium deposits in the adrenal glands are also seen.

Infants with Wolman disease are healthy and active at birth but soon develop signs and symptoms of the disorder. These may include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, low muscle tone, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, developmental delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food. Children affected by this condition develop severe malnutrition and generally do not survive past early childhood.

How common is Wolman disease?
Wolman disease is estimated to occur in 1 in 350,000 newborns.

What genes are related to Wolman disease?
Mutations in the LIPA gene cause Wolman disease.

The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they can be used by the body.

Mutations in this gene lead to a shortage of lysosomal acid lipase and the accumulation of triglycerides, cholesteryl esters, and other kinds of fats within the cells and tissues of affected individuals. This accumulation as well as malnutrition caused by the body's inability to use lipids properly result in the signs and symptoms of Wolman disease.

Read more about the LIPA gene.

Where can I find information about diagnosis, management, or treatment of Wolman disease?
These resources address the diagnosis or management of Wolman disease and may include treatment providers.

•Gene Test: Wolman Disease

You might also find information on the diagnosis or management of Wolman disease in Educational resources and Patient support.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook

**taken from Genetics Home Reference**
 

Hemophagocytic Lymphohistiocytosis HLH

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease that usually affects infants and very young children. In rare cases it can affect adolescents and adults. HLH affects approximately one in every one million children.


Patients with HLH have an abnormally regulated immune system, and specific white blood cells, called macrophages, grow abnormally and accumulate in the body's organs, including the liver, spleen, bone marrow, central nervous system and skin.

There are two main types of HLH: primary and secondary. Primary HLH, also known as familial or relapsing HLH, is an inherited condition. Affected individuals may have an abnormality in a gene that is important in regulation of immune response; some of these gene defects are now known and can be detected. A similar illness, called secondary HLH, may be triggered by certain types of infection, auto-immune diseases and/or by cancer. The treatment of HLH includes chemotherapy. For some patients, bone marrow transplantation is recommended.

**taken from Children's Hospital Boston**

Joubert Syndrome

What is Joubert Syndrome?
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur.. Most cases of Joubert syndrome are sporadic (not inherited). In some families, however, Joubert syndrome appears to be inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in a number of genes, including NPHP1, AHI1, and CEP290.

Is there any treatment?
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis.

What is the prognosis?
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

What research is being done?
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.

**Information taken from National Institute of Neurological Disorders and Stroke website**

Friedreich's Ataxia

Before Tylor got diagnosed with Niemann Pick Type C (NPC) the doctors tested him for Friedeich's Ataxia. The test came back negative but they did find out that Tylor is a carrier of this disease.

Overview

Friedreich's ataxia is a rare disease passed down through families (inherited) that affects the muscles and heart.

Alternative Names
Spinocerebellar degeneration

Causes
Friedreich's ataxia is caused by a defect in a gene called Frataxin (FXN), which is located on chromosome 9. Changes in this gene cause the body to produce too much of part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. Those with Individuals with Friedreich's ataxia have as many as 1,000 copies. The more copies of GAA a patient has, the earlier in life the disease starts and the faster it gets worse.

Friedreich's ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father.

About 1 in every 22,000-29,000 develop this disease. Family history of the condition raises your risk.

Symptoms
Symptoms are caused by the wearing away of structures in areas of the brain and spinal cord that control coordination, muscle movement, and some sensory functions. Symptoms generally begin in childhood before puberty, and may include:

•Abnormal speech
•Changes in vision, particularly color vision
•Decrease in ability to feel vibrations in lower limbs
•Foot problems, such as hammer toe and high arches
•Hearing loss -- occurs in about 10% of patients
•Jerky eye movements
•Loss of coordination and balance, which leads to frequent falls
•Muscle weakness
•No reflexes in the legs
•Unsteady gait and uncoordinated movements (ataxia) -- gets worse with time

Muscle problems lead to changes in the spine, which may result in scoliosis or kyphoscoliosis.

Heart disease usually develops and may lead to heart failure. Death may result from heart failure or dysrhythmias that do not respond to treatment. Diabetes may develop in later stages of the disease.

Tests & diagnosis
The following tests may be performed:
•ECG
•Electrophysiological studies
•EMG (electromyography)
•Genetic testing for the frataxin gene
•Nerve conduction tests
•Muscle biopsy
•X-ray, CT scan, or MRI of the head
•X-ray of the chest
•X-ray of the spine

Tests of the heart may show a condition called hypertrophic cardiomyopathy in about 66% of persons with this condition.

Blood sugar (glucose) tests may reveal diabetes or glucose intolerance. An eye exam may show damage to the optic nerve, which usually occurs without symptoms.

Treatment
Treatment for Friedreich's ataxia includes:
•Counseling
•Speech therapy
•Physical therapy
•Walking aids or wheelchairs

Orthopedic interventions (such as braces) may be needed for scoliosis and foot problems. Treatment of heart disease and diabetes may help improve the quality and duration of life.

Prognosis
Friedreich's ataxia slowly gets worse and causes problems performing everyday activities. Most patients need to use a wheelchair within 15 years of the disease's start. The disease may lead to early death.

Complications
•Diabetes
•Heart failure or heart disease
•Loss of ability to move around

When to contact a doctor
Call your health care provider if muscle weakness, numbness, loss of coordination, loss of reflexes, or other symptoms of Friedreich's ataxia occur (particularly if there is a family history of the disorder).

Prevention
Individuals with a family history of Friedreich's ataxia who intend to have children should consider genetic screening and counseling to determine their risk.

**Information taken from Google Health**
 

Food Protein-Induced Enterocolitis Syndrome (FPIES)

January 20, 2011 - By KATE YORK Special to The News and Sentinel

The Arnold Family

MARIETTA - Braylen Arnold isn't your average picky eater.

The nearly 18-month-old Marietta boy does have screaming fits at the dinner table regularly, but they're rooted in what he can't have rather than not wanting what's offered.

Last spring, Braylen became one of only about 150 children in the U.S. to be diagnosed with food protein-induced enterocolitis syndrome (FPIES), a debilitating disease that mimics food allergies. Most children affected react to either wheat, rice, soy or dairy - Braylen reacts to them all.

"We have to keep him on a very strict diet," said his mother, Melissa Arnold. "He can only have (non-berry) fruit and formula. It's very hard because the older he gets, the more he wants to explore. He's fighting to have our food."

His parents, Melissa and Ben, had a fight of their own just to get their son diagnosed. Now, they're taking part in a benefit in Marietta Saturday that will help fund a Philadelphia Children's Hospital research study on FPIES, the first study of its kind in the U.S. Along with little research, there is no known cause and it's unclear whether it can be passed on.

"We don't want other parents to have to go through what we went through to get a diagnosis," said Melissa Arnold. "It's scary and it's sad to be a parent and feel that helpless."

Braylen was 3 months old when the couple fed him rice cereal for the first time and the symptoms began.

"He went to sleep immediately and then threw up for two hours," said Ben Arnold. "He was throwing up this yellow bile."

What followed was half a dozen visits to the local emergency room and to the family's physician and the frustration of parents knowing something is wrong with their child and being told it's not true.

"We got every diagnosis from the flu to a virus to that we were feeding him too much," said Melissa Arnold.

"None of the doctors knew anything about FPIES," said her husband.

For nearly six months, Braylen would be violently ill after eating, as well as sleepy and lethargic.

"I can remember a time when I was sitting on the floor with him and he was just limp," said his mother.

The family was eventually sent to Nationwide Children's Hospital in Columbus and to an allergist, who quickly diagnosed Braylen.

That began the little boy's new diet of $16-a-cup formula, dubbed "liquid gold" at the hospital, along with a few fruits.

"A typical day for him might be six to 10 cups of formula, a serving of olives for breakfast, an orange for lunch and three or four bananas," said Melissa Arnold. "It's hard to be creative. You can only cut fruit so many ways."

The toddler regularly visits Children's Hospital in Columbus and has patches, representing different foods, placed on his back to test for a reaction to determine whether the family can try to reintroduce any food item. So far, the only food he hasn't reacted to was corn, which was reintroduced into his diet just a few days ago.

"You can't imagine how excited he was," said Ben Arnold. "It was something different. It's one of the reasons olives are his favorite because they're not cold and sweet like the other fruit, but bitter and salty."

As long as he sticks to his diet, Braylen now functions like a healthy, normal 18-month-old with one exception. He recently began working with a speech therapist, due to minor delays in his speech development related to FPIES.

"He doesn't have different textures in his mouth like most children do," said Melissa Arnold. "He only eats soft, mushy foods and that can affect speech. He doesn't use his tongue very much."

Everyone around Braylen must be vigilant all the time.

"We'll be at a family reunion and everyone wants to hand him a chip or something," Ben Arnold said. "We have to explain it to everyone."

Evelyn Worstell, a member of Reno Christian Church, said no one there had heard of FPIES before Braylen's diagnosis.

"Everybody's known him since he was a tiny baby, and everyone wanted to help," she said. "And with the benefit, since it's for research, we're hoping to help a lot of kids."

The spaghetti dinner will be held from 4 to 7 p.m. Saturday at the Marietta Township Park and Recreation Center, with tickets $6 a person. It will include a silent auction, 50/50 drawing, country store and children's country store. Some of the silent auction prizes include six Ohio State tickets and two Bristol Motor Speedway tickets.

Doctors are hopeful he will grow out of the condition between the ages of 3 to 5, as many children do, and until then the family will be grateful for their rosy-cheeked, active little boy, said Melissa Arnold.

"Some children have even more severe reactions, like shock or low blood pressure or they have to have feeding tubes," she said. "This is difficult, but he gets to function as a normal 18-month-old. He has no limits."

Huntington's Disease

Huntington's disease is a disorder passed down through families in which certain nerve cells in the brain waste away, or degenerate.

American doctor George Huntington first described the disorder in 1872.

Huntington's disease is caused by a genetic defect on chromosome #4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 35 times. But in persons with Huntington's disease, it is repeated 36 to 120 times.

As the gene is passed on from one generation to the next, the number of repeats - called a CAG repeat expansion - tend to get larger. The larger the number of repeats, the greater your chance of developing symptoms at an earlier age. Therefore, as the disease is passed along in families, it becomes evident at younger and younger ages.

There are two forms of Huntington's disease. The most common is adult-onset Huntington's disease. Persons with this form usually develop symptoms in their mid 30s and 40s.

An early-onset form of Huntington's disease accounts for a small number of cases and begins in childhood or adolescence. Symptoms may resemble those of Parkinson's disease with rigidity, slow movements, and tremor.

If one of your parents has Huntington's disease, you have a 50% chance of getting the gene for the disease. If you get the gene from your parents, you will develop the disease at some point in your life, and can pass it onto your children. If you do not get the gene from your parents, you cannot pass the gene onto your children.

Behavior changes may occur before movement problems, and can include:
•Antisocial behaviors
•Hallucinations
•Irritability
•Moodiness
•Restlessness or fidgeting
•Paranoia
•Psychosis

Abnormal and unusual movements include:
•Head turning to shift eye position
•Facial movements, including grimaces
•Slow, uncontrolled movements
•Quick, sudden, sometimes wild jerking movements of the arms, legs,face, andother body parts
•Unsteady gait

Dementia that slowly gets worse, including:
•Loss of memory
•Loss of judgment
•Speech changes
•Personality changes
•Disorientation or confusion

Additional symptoms that may be associated with this disease:
•Anxiety, stress, and tension
•Difficulty swallowing
•Speech impairment

Symptoms in children:
•Rigidity
•Slow movements
•Tremor

There is no cure for Huntington's disease, and there is no known way to stop the disease from getting worse. The goal of treatment is to slow down the course of the disease and help the person function for as long and as comfortably as possible.

Medications vary depending on the symptoms. Dopamine blockers may help reduce abnormal behaviors and movements. Drugs such as haloperidol, tetrabenazine, and amantadine are used to try to control extra movements. There has been some evidence to suggest that co-enzyme Q10 may also help slow down the course of the disease.

Depression and suicide are common among persons with Huntington's disease. It is important for all those who care for a person with Huntington's disease to monitor for symptoms and treat accordingly.

As the disease progresses, patients will need assistance and supervision. They may eventually need 24-hour care.

Huntington's disease causes disability that gets worse over time. Persons with this disease usually die within 15 to 20 years. The cause of death is often infection, although suicide is also common.

It is important to realize that the disease affects everyone differently. The number of CAG repeats may determine the severity of symptoms. Persons with few repeats may have mild abnormal movements later in life and slow disease progression, while those with a large number of repeats may be severely affected at a young age.

The following video clips are about a family suffering from Huntington's Disease. The Father and 3 daugthers are affected by this horrible disease. The second video has no sound but it shows the progression of the disease.

Wear Jeans to help 30 million people

Do you love to wear jeans? I know I do!! Well here is your chance to help make a difference on World Rare Disease Day on February 28th 2011. This is a way for all of us to get involved in the World of Rare. But when I say rare after looking at the numbers rare isn't so rare! There are over 7000 rare diseases, affecting 30 million people in the US alone!! And of those 30 million people 75% of them are children. So as I said before RARE isn't so RARE is it?

But spreading the word can be as simple as wearing a pair of jeans. So I challenge you to get your friends, family, and co-workers involved for World Rare Disease Day on February 28th 2011!!

Please take the time to view the video below. It is about a little boy who has a rare skin disease. I am going to be posting videos from families with children with different rare diseases until World Rare Disease Day.



God Bless