Sturge-Weber Syndrome

What is Sturge-Weber Syndrome?
Sturge-Weber syndrome is a neurological disorder indicated at birth by seizures accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge-Weber syndrome rarely affects other body organs.

Is there any treatment?
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with mental retardation or developmental delays. Doctors recommend yearly monitoring for glaucoma.

What is the prognosis?
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment.

What research is being done?
The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.

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 $$$$

Two Thumbs up for Ty

Tylor waiting for his last appointment

Tylor recently had his six month check up at Mayo Clinic.  We went up the night before so Ty could get a good night sleep and not have to get up real early in the morning.

We saw Lisa Epp, the dietitian, first. She was very happy with his weight!  He is maintaining a healthy weight but oral eating is becoming harder so she suggested we just feed him what he likes to eat. It doesn't have to a well balanced meal all the time since he gets all his nutrients through he G-tube. I told Ty hey how many people get the permission to be a junk food junking from their dietitian? Our main goal is to keep him eating orally as long as possible so the food we feed him needs to be something easy for him to eat...like Mac N Cheese, PBnJ, soups, spaghetti o's.

Next we saw Dr. Patterson. He again was please with how is doing. His progression is very slow...he is actually pretty sable right now. I think this is great considering the onset of symptoms started eight years ago.  We talked about starting Ty on Cyclodextrin.  Dr. Patterson explained that it would be given on an uncontrolled basis and that we don't know if it will help or hurt him. He also told us to look at the big picture...Ty's quality of life! Tylor is very happy, he loves to go to school and has tons of friends. Giving him the Cyclodextirn could possibly change this. After some more conversation we decided not to pursue getting Tylor on Cyclodextrin at this time. Dr. Patterson told us to keep doing what we are doing....Loving him and keeping him health. We can do that!!! 

Lastly Tylor got his G-tube changed. Penny said that the sight looked good just a little redness from the old tube being a little tight. She gave us some pointers on how to replace the tube with little to no pressure on Ty's belly. Then we were on our way!

Go Pack Go

Tylor was a very happy camper after the Packers won the Superbowl. We had a Superbowl party and Tylor fit right in....

Special Olympics

Last weekend we headed down to Eldridge to walk Tylor play basketball. He had so much fun with his friends and they got 2nd place. Here are some pictures for you all to enjoy.

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**
 

Blizzard of 2011

Thought some of you might enjoy seeing what Mother Nature dumped on us last night!!

Poor Bono trying to get into the house

Out the back

Front door

Out the front

Back door

Front door

Next morning out the front

Sy going out back to start shoveling

Holy Cow

Tractor didn't do a whole lot...we had to shovel most of it by hand

Next door

the side gate...we can't get open

Finally a path out back...now on to the front!!

God Bless

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**

Undergrads research rare incurable disease

Class contributes clinical findings on Niemann-Pick Type C disease to The National Institute of Heal

By Anna Boarini

As participants in a semester-long course, Notre Dame undergraduates have the rare opportunity to contribute to real clinical research about Niemann – Pick Type C (NP-C) disease.

The course, titled "Clinical research in developing health networks in rare and neglected diseases," is one of only a few similar courses offered at universities around the country, said Katrina Epperson, program coordinator for the Center for Rare and Neglected Diseases at Notre Dame.

"There are 17 symptoms of NP-C and the students track the nine major ones," Epperson said. "The students look at medical records to give a score to each doctor visit. This then helps track the progression of the disease."

Notre Dame gives its results from the course to The National Institute of Health (NIH), which is currently conducting the only clinical trial on NP-C in the United States.

According to NIH's website, NP-C is an inherited metabolic disorder that causes harmful amounts of fatty substances to collect in the brain, bone marrow, spleen, lungs and liver. NP-C is classified as a liposomal storage disorder, where cells do not trap cholesterol in the proper manner. Cholesterol builds up, which affects the central nervous system and causes the deterioration of the brain.

Also known as "childhood Alzheimer's," NP-C effects one in 200,000 people, Epperson said.

"Because this disease affects such a small group, it is really hard to find people to do a clinical trial," Epperson said.

Biology Professor Kasturi Haldar, director of Notre Dame's Center for Rare and Neglected Diseases, teaches the course.

Mollie Howard, a senior biology major, is one of 30 students enrolled in the course this semester.

"I was looking for another biology elective and this sounded really interesting," Howard said. "There is no cure for NP-C and there's a delay from when the child starts to show symptoms and is diagnosed."

Notre Dame became associated with NP-C through former head football coach Ara Parseghian, who has three grandchildren who died from NP-C. He started the Ara Parseghian Medical Research Foundation to raise awareness about NP-C and fund research.

"This is close to the community," Epperson said. "There are 7,000 rare diseases and with the creation of the Center for Rare and Neglected Diseases, it makes it hard to just pick one [to study]. This relationship helped us choose."

After the students learn how to follow the Health Insurance Portability and Accountability Act (HIPPA), they make presentations about the families that are suffering from NP-C in an attempt to put a face to medical records. Epperson said students may eventually be able to meet some of the patients whose medical records they research.

"We want if possible to include actually meeting some of these patients," Epperson said.

One concern with bringing patients into the class is respect for the patients' privacy, Epperson said.

"We want to respect the patients and not make them feel like they're on display," she said.

In the meantime, Epperson said there are other ways for the students to understand the lives of the patients who they research.

"The Discovery Channel came and taped a show about NP-C, so now we can show the students the video," she said.

Taken from The Observer