What is Mastocytisis? An Interview With Tara Goonan

My friend Tara inspired me to become a mother. She is just as anxious and crazy as I am, but she is also a hilariously funny, intelligent and wonderful woman. She had a baby, Liam, and made motherhood look possible to a neurotic character like me.


We became friends when we worked together as Vocational Counselors in a residential drug treatment center.

When Liam was 5 months old, I became pregnant with Ari.





Liam, who is now 2 1/2 years old, was diagnosed with mastocytisis. It is a rare condition, and can be quite severe in some cases.

Tara talks about her experience with Liam, and the road to diagnosis.



1. What is mastocytisis?

Mastocytosis, or in Liam's case cutaneous mastocytosis, is a rare condition. Some medical persons refer to it as an "orphan disease" due to the small number of the population effected by it. It effects "mast cells", which are also part of our immune cells and help us fight infection. It is therefore considered a hematologic illness.

Most mast cells are found in the skin, digestive system and airway linings.

When these cells are aggravated or triggered, they release histamine into the body. Allergy reducers such as Claritin or Zyrtec can be referred to as "histamine blockers", and we are talking about one in the same fluid. This fluid, or substance, can irritate the airways, digestive system, and skin. When young children are diagnosed with this condition, it appears on their skin in the form of painful blisters. (i.e the cutaneous part).

2. When did you suspect that something was "wrong" with Liam? What were his symptoms?

Liam was born with beautiful, porcelain white skin and dark red hair. As he progressed in age (at around 7 or 8 months) I began noticing what looked like dry patches of skin on his back. I figured due to the sensitivity of his fair skin, he needed more lotion, less baths (every other day), and fragrance free products. The marks continued to grow, and I couldn't figure out what I was doing wrong. I started with the local pediatrician, who kept reinforcing the whole "eczema" idea, although these marks looked fixed, and almost as if they were part of his skin. Not like a rash. It wasn't until his scalp was filled with oozing blisters, which were painful to the touch, that I knew something else had to be done. This was no cradle cap. He was a year of age when I saw his first dermatologist, who was unfortunately just as baffled as the pediatrician.

3. How did you arrive at the diagnosis of mastocytisis?

Thankfully, my mother, who has been my saving grace over these last few years, was able to find the diagnosis herself. She is a retired RN, who dealt with many pediatric cases during her career. After extensive research, she was the one directing the dermatologist. A skin biopsy was ordered, and we were able to pin point the diagnosis.


4. When you found out Liam had mastocytisis, how did you feel?

I guess I was concerned at first that I had done something wrong for my baby to have this disease, but in every medical article, I could find no direct cause linked to such a diagnosis. Anyone doing research will find that there is really not that much information out there, and parents of children effected by this illness will understand that awareness is key. This condition needs to be brought to light and discussed more within our pediatric and dermatological medical communities. I think my next feeling was the fear that people would not understand the disease and ostracize my son if he happened to have a outbreak at school or in public. I can say right now that I have been one of the luckier ones because his beautiful face remains unaffected; but we all know how judgmental society is, and I want to arm him with the tools to never have to feel bad about how he looks.

5. What does Liam need to do to lead a healthy lifestyle?

We monitor his condition through proper diet (avoiding what we have found to be trigger foods- in Liam's case pork, spinach, and larger amounts of chocolate. There is some current suspicion as well with acidic foods (particularly citrus) which I am still investigating with him through trial and error) He takes antihistamines daily, and we have found some great home based solutions (because steroidal creams are always recommended by doctors) to maintain his skin. There are some good resources out there such as the mastocytosis society, as well as mastokids.org which provide helpful hints.

6. How do you help Liam deal with his diagnosis?

I am about awareness to make sure that Liam's community, whether it be school, family or friends are aware of his condition and the fact that it is not contagious, nor will it ever be. I try to provide my son with enough love and affection that even if there are people who chose to remain ignorant out there, he will have the strength to not let it affect him.



To learn more about mastocytosis, visit these links below:
Mastocytosis Society
MastoKids

The H1N1 Deal: An Interview With Dr. Saul Hymes

When I was in the first grade, at P.S.87,I had the pleasure of meeting Saul Hymes, a smart sensitive character. I am not surprised to discover that over 20 years later, Saul Hymes has now become Saul Hymes, M.D.: a clinical fellow in Pediatric Infectious Disease. Dr. Hymes is still in training, but I know he has a long career ahead of him.


Dr. Hymes was kind enough to let me pick his brain regarding the current issue of H1N1 or (as the media likes to call it) "The Swine Flu."


1. What is H1N1?

H1N1 is a new variant of the influenza virus. Why is it called that? The influenza virus is surrounded, like many viruses, by a protein coat. For the flu two of the components are the main ones our immune system recognizes to protect against the virus. They are called Hemaglutinin (H) and Neuraminidase (N). There are many variants of each that are numbered 1-16 for the H's and 1-9 for the N's though only a few of these are found in flu viruses that affect humans. There are also two main types of influenza or "the flu": Influenza A and Influenza B. H1N1/"swine flu" is a type of Influenza A so we can ignore Influenza B for now.

Every year a new main one (or two) seasonal flu virus emerges as the one that will cause the usual flu season around the globe. It is of a particular H & N type and this usually drifts slightly from year to year as the virus mutates and changes. As the H & N proteins are called 'antigens' this is called 'antigenic drift'. This is why you need a new flu shot every year. This year the expected seasonal flu types are H3N2 and...wait, this gets confusing...H1N1. Now, this H1N1 is not the same as the H1N1 everybody's worried about. This is why simply saying H1N1 is not enough.

The official name for the current H1N1 swine flu is the "novel pandemic 2009 H1N1 Influenza A". You'll notice that 'swine flu' is nowhere in there. This was a political decision made so people didn't go killing pigs, but this virus did indeed have its origins in both pigs and chickens. The reason it's so new or novel and that there's a separate vaccine and that everybody's so concerned, is that this virus underwent what's called 'antigenic shift' where instead of little changes in the H and the N, even though these are H1 and N1, as in the seasonal flu, they and the rest of the virus are different in other ways, making this a very different virus from the standpoint of immunity--thus the new vaccine, the presence of flu at an odd time of year, etc.

On the whole, however, this is simply a type of Influenza virus which can cause the same things influenza always does--illness ranging from mild upper respiratory infections, to more severe fevers, chills, and muscle aching, to bad pneumonia, to even worse effects in those more at risk. Thousands of adults and children worldwide die every year from the seasonal flu and many millions more are infected and recover as we all have year after year. The H1N1 "swine flu" is no different--most likely if you get it it will be mild. Some are unlucky and have more severe problems. There is no way to predict this in people who are otherwise healthy (those who are not are known to be more at risk) and that is why, as below, the vaccine is recommended.

2. What are the most common ways to catch H1N1?

H1N1 is transmitted the same way all influenza virus is transmitted--by spread of respiratory droplets, i.e. snot, mucus, spit when you cough or sneeze or even talk forcefully. So you can get it from close personal contact, from kissing, from being breathed on, from being coughed or spit or sneezed on, and sometimes from touching something immediately after someone with the flu has touched something if they just wiped their nose. That's why when you cover your mouth to cough it's better to use the crook of your arm. Your hand will just spread the virus more. And this is of course why kids get the flu and other viruses more easily--always rubbing and picking their noses, sneezing without covering, and being crowded with other kids in school and daycare.

3. Should we get vaccinated for H1N1? Should our kids get vaccinated for H1N1? Should parents get vaccinated for H1N1?

The short answer is, yes, all children should absolutely get vaccinated as they are at high-risk for flu-related complications. Parents should get it if they have children under 6 months who can't get the vaccine, if they are pregnant, if they are health care personnel, or if they have one of the illnesses below. This is pending availability of the vaccine.

The longer answer follows, though is still fairly straightforward and I will quote the CDC--Centers for Disease Control--here. "We recommend that vaccination efforts should focus initially on persons in five target groups whose members are at higher risk for influenza or influenza-related complications, are likely to come in contact with influenza viruses as part of their occupation and could transmit influenza viruses to others in medical care settings, or are close contacts of infants aged <6>

• Pregnant women,
• Persons who live with or provide care for infants aged <6>
• Health-care and emergency medical services personnel
• Persons aged 6 months-24 years even if completely healthy
• Persons aged 25--64 years who have medical conditions that put them at higher risk for influenza-related complications:
• Asthma
• Neurological and neurodevelopmental conditions [including disorders of the brain, spinal cord, peripheral nerve, and muscle such as cerebral palsy, epilepsy (seizure disorders), stroke, intellectual disability (mental retardation), moderate to severe developmental delay, muscular dystrophy, or spinal cord injury].
• Chronic lung disease (such as chronic obstructive pulmonary disease [COPD] and cystic fibrosis)
• Heart disease (such as congenital heart disease, congestive heart failure and coronary artery disease)
• Blood disorders (such as sickle cell disease)
• Endocrine disorders (such as diabetes mellitus)
• Kidney disorders
• Liver disorders
• Metabolic disorders (such as inherited metabolic disorders and mitochondrial disorders)
• Weakened immune system due to disease or medication (such as people with HIV or AIDS, or cancer, or those on chronic steroids)
• People younger than 19 years of age who are receiving long-term aspirin therapy

The CDC has also decided, while initial vaccine supplies are so limited, to limit the recommendations even further to a smaller group at even higher risk:

• Pregnant women,
• Persons who live with or provide care for infants aged <6>
• Health-care and emergency medical services personnel who have direct contact with patients or infectious material,
• Children aged 6 months--4 years, and
• Children and adolescents aged 5--18 years who have medical conditions that put them at higher risk for influenza-related complications.

Thus, if your child is over 4, for example, and their pediatrician has limited supply, your child would only get vaccine after everyone under 4 who wants it gets it.

Finally, who should NOT get the flu vaccine:

• People who have a severe allergy to chicken eggs.
• People who have had a severe reaction to an influenza vaccination.
• People who developed Guillain-Barré syndrome (GBS) within 6 weeks of getting an influenza vaccine previously. (For information, see General Questions and Answers on Guillain-Barré syndrome (GBS).
• Children younger than 6 months of age (influenza vaccine is not approved for this age group), and
• People who have a moderate-to-severe illness with a fever (they should wait until they recover to get vaccinated.)

Otherwise, go get your vaccines as recommended above! The vaccine is safe and has been tested thoroughly--it is NOT experimental. It will NOT cause autism. There is NOTHING odd added to the vaccine. It is EXACTLY THE SAME in every way to the seasonal vaccine except that it is made from a different type of flu.

4. What specific precautions should we take to keep our children H1N1 free?

First and foremost, get your child vaccinated!!!

Then, the rest is really common sense for how anyone can avoid infection. Of course, some of this is easier said than done for younger kids:

-Cover your nose and mouth with a tissue

-Wash your hands well and often.

-Carry Purel around!

-Avoid touching your face, eyes, nose, mouth, etc.

-Avoid close contact with sick people

-Stay home until your fever is gone for 24 hours, unless you have to leave to get medical attention

-Follow public health advice re: school closure, avoid crowds, etc.

Links:

http://www.cdc.gov/h1n1flu/ (The CDC page on flu)

http://www.nyc.gov/html/doh/flu/html/home/home.shtml (For those who live in the NYC area)

http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5810a1.htm?s_cid=rr5810a1_e (For those who want to read more on vaccine recommendations)