Feature: With A Warrior’s Heart, 2-Year-Old Ridgefield Boy Fights Rare Disease

Written by Tom Renner, Ridgefield Daily Voice:

RIDGEFIELD, Conn. — Meg and Drew Whitbeck of Ridgefield reacted differently when they learned in February that their one-year-old son, Luke, suffered from a rare genetic disorder, Gaucher Disease.

Gaucher Disease is a rare disease that causes fatty lipid deposits to build up in some organs and bones. It results from not having an enzyme, glucoerebrosidase, that breaks down a fatty chemical, glucocerebroside. Fat-laden Gaucher cells build up in areas such as the spleen, liver and bone marrow.

Only 1 in 40,000 live births suffer Gaucher disease, according to the website Gaucherdisease.org, and symptoms include bone pain and easily fractured bones, anemia, bleeding and bruising problems, and a distended abdomen due to spleen and liver enlargement. The disease is treatable with a costly enzyme replacement therapy, which requires Luke to receive weekly infusions. Their family has established a GoFundMe page to help cover the infusions for Luke, who turned 2 in July. Click here to visit the page.

Now, the family prepares for its first Christmas since his diagnosis, well aware of what’s in store over the years ahead with the boy they call “Warrior Luke.” “We’ve hit our stride as a ‘rare’ family, and feel like we have our feet under us,’’ said Meg, a Registered Dietitian with Ridgefield Visiting Nurse Association. “We know how to handle things in the medical world, and have found support and encouragement from faith, friends, family, our church, jobs, medical team and community.”

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I’m Basil. This Is My Story

Basil SwimmerI was born in South Africa on October 27, 1941 in a town called Benoni close to Johannesburg. One fine day I was at work and had walked to the factory section in order to retrieve some documents (I was the Production planner and coordinator of a cardboard box producing factory, one of the biggest in South Africa, Barlow-Weyerhaeuser). I was 32 years old at the time. My name was called out on the loudspeaker to return to my office for an urgent meeting. I made a quick U-turn and suddenly felt an extremely painful wrench in my chest. I sat down; I couldn’t move until eventually the pain eased off. I never went to that meeting.

I went straight to the Drs. rooms. He was our family Dr.and he suspected I had malaria as my spleen was swollen but he also sent me to the labs to have an extraction from the centre of my sternum to check for Gaucher’s disease. Wow was that painful!..This was 42 years ago.

Anyway to cut a long story short, I had Gaucher’s disease and so did my sister but not my brother..he was lucky!! There was no cure …to this day there is no cure but at least we have enzyme infusions to stop further deterioration. We (our family) decided to leave South Africa and come and live in Israel..this was in 1977. I saw the head of the Gaucher’s dept., Prof. Ari Zimran, but in those days only very severe cases were given the drug and I was 50/50.

So, living on pain meds with my physical condition deteriorating slowly, I continued working. Then in 2002 Prof. Zimran said they were looking for volunteers to test a new drug TKT, which eventually became known as VPRIV. I readily agreed !! There were 12 of us and the drug worked as good as Cerezyme, and after 7 years it was approved of by the FDA much sooner than expected because Cerezyme at the time was having property problems caused by contamination with their drug. So I’ve now been on VPRIV for 14 years by courtesy of Ministry of Health and expect to stay on it until my death. I have a nurse come to my home every two weeks and administer the VPRIV infusions 6 bottles at a time.

My wife, who is not a carrier of a recessive gene, and I have 3 daughters who are all married. Our daughters are carriers but none of their husbands are and we have 11 healthy grandchildren!

-Basil Swimmer; Rishon Lezion, Israel

Feature: Lauren’s Interview with Rare Disease Report

It was an amazing opportunity to be able to sit down with Rare Disease Report to talk about my experience with Gaucher Disease, as well as to be recognized as the founder of Gaucher Stories. Though my platform is small right now, I will continue to use it to spread awareness because the more people know about it, the less misdiagnosis we will have.

Click here to see some clips of my interview on Rare Disease Report’s website.

Click here to see all of the clips from my interview on the Rare Disease Report Youtube page.

 

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I’m Landon. This Is My Story.

landonMy name is Landon. I was born in Aug. 2014. When I was around 4 months old I kept getting sick. My doctor said it was just allergies,cold,bronchitis,etc. Around 7 months old I got really sick and went to the doctor. I saw a different dr that day and he said to rush me to the hospital that was 2 hours away because they were better equipped.

My body temperature was 92.7. I was very congested and my liver and spleen were huge. Before we left, the dr got my regular dr and reprimanded her about missing everything that was going on. I also had retroflexion and she said it was bad posture. We went to Memorial Health Hospital in Savannah, GA. I had all kinds of drs come in and check and in May of 2015 they found out I had Type 2 Gaucher Disease  They started me on Cerezyme treatments in June.

I had to go every week to get infusions. I got my 1st port, a cath, on the 1st treatment. In August I had a gtube put in because I was only 14 pouds. In October I got a yeast infection of the blood from the port and lost a pound in 24 hours. I stayed in the Hospital for 3 weeks getting treatments for it and had the port taken out.

In November I had another port put in,  was holding weight at 14 pounds and was steady getting aspiration pneumonia. In December I quit breathing and had to be air flighted to Hospital and was on a vent for a few days. My mom had to fight with drs to get me trached. She won. I finally got my trach on January 11, 2016.

Since I got my trach I haven’t had pneumonia and I weigh 23 pounds. My retroflexion is also gone. I haven’t been in the Hospital in over 3 months now. I am now 21 months old and still fighting!!!

-Melissa Clark; Hortense, GA

I’m Yeyberth. This Is My Story.

YeyberthI was only 5 years old when a doctor from J.M de Los Rios in Caracas, Venezuela discovered I had Gaucher type 1. I was always sick, had nose bleeds, bruises, fatigue and my stomach was huge. When I was younger, I fractured my left leg, the doctors didn’t know what was happening to me and why I was always sick.

That day, I had a high fever and my mom took me to the emergency room and that day a genetic doctor was there and studied my case. My mom explained to the doctor that I always had pain on my legs. It was the worst pain, as if having a child without any medication. My leg would get swollen.

There was no treatment for Gaucher type 1 in 1991 available so the doctor recommended Ceredase. It was very expensive to get because the medical insurance in Venezuela is horrible and my mom was a single mom with two jobs. I was only able to rely on Ceredase every 6 months.

I had a spleen removal in 1992 because it was enlarged and starting to hurt the liver. After the spleen removal, things got a little better but I still had the symptoms. I basically lived in the hospital because I was hospitalized so often because of my symptoms and my pain on my leg. To the point that after Kindergarten, I was home schooled and didn’t go back to a real school until third grade.

In 1994 my doctor in Venezuela told my mom that Cerezyme was now available but it was not available in Venezuela. It was very expensive to get and the only way to get it would be to come to the United States.

In 1996 my mom received a phone call from the United States from a Venezuelan doctor working at St Jude Children’s Research Hospital who heard about my case since my mom sent my case everywhere around the world trying to find help in order to afford my treatment. The doctor mentioned that St. Jude Children’s Research Hospital was interested in researching my case and they would help with travel costs for her and for me. My mom received help from POLAR in Venezuela to cover my sister’s travel costs.

In June 9, 1997 my mom, my sister and I came to the United States of America. I was a patient at St. Jude Children’s Research Hospital but then St. Jude noticed my case had nothing to do with cancer so we met Marcella who was at Lebonheur Children’s Research Hospital at the time and she informed us that Lebonheur could help through Genzyme.

In 1999 I started receiving Cerezyme and it was heaven. I started feeling better and I would’ve not made it if it wasn’t for God’s help.

I was told I could not have children but I did, I had a child and it was a high risk pregnancy but it was a blessing.

Finally, I now receive Cerdelga because my life is so busy I wasn’t able to stay on Cerezyme. I am thinking on going back to Cerezyme because it is my treatment of preference.

-Yeyberth Lopez; Caracas, Venezuela

I’m Marc. This Is My Story.

MarcI am 36 years old and a family law attorney living in Orange County, California. My story is probably unique in the Gaucher community. I grew up relatively symptom free. I am not the most coordinated person, but was able to do fairly well in cross-country and track in high school. I even had the opportunity to run at the collegiate level. I had pain in my legs in high school, but my coach (and doctors) wrote it off as growing pains and shin splints.

In college, I certainly had aches and pains, but tended to ignore my body. I was focused on school, work and having fun and didn’t really have time to take care of myself. Although fatigue was certainly an issue for me, I constantly pushed my body to meet my scheduling demands. Sub-consciously, I think I always knew that I did not have the energy of my peers, which made me want to take on every challenge and every obstacle just to prove myself. I graduated college in 2002 with a major in Psychology, minor in classical history (and almost a second major in latin). I typically worked two jobs (starbucks and something in the financial sector) and, upon graduating, focused completely on the financing sector working for UBS.

The summer after college, I helped a friend move into an apartment on the Balboa Peninsula in Newport Beach. He asked me to help carry his bed up a flight of stairs and I happily obliged. At the top, I could feel something pop in my neck. It hurt and felt like a terrible sprain. Of course, still with the college mentality, I ignored it. I went to work the next day and could tell my neck was swollen because my collar on my shirt was tight. I still ignored it. About a week went by and my neck was getting progressively worse. I could no longer button the top button of my shirt and had to wear my tie loose (very uncharacteristic of me). My lips and face were also starting to take on a blue hue. I was exhausted, but still pushed on and went into work. Finally, at the office, my supervisor told me to go to the doctor. He literally called the doctor and set up the appointment for me to go. Apparently, I am pretty obstinate. The doctor was a part of a HMO and, frankly unimpressive. He sent me to get an MRI to see how badly my next was sprained. I did. Leaving the MRI center, the technician gave me a very strange look. I’ll never forget it. His expression was one of angst, like he wanted to tell me something really bad, but couldn’t. I drove home. By the time I got home, there were six messages on my machine. All from the doctor. He didn’t tell me what was wrong, but asked me to immediately come back to the office. I did and he broke the news to me that I had tumors all over my neck and chest. That “sprain” was really one tumor that moved and was now blocking my superior vena cava. I essentially could not drain blood from my head. I needed surgery immediately.

Damned if I was going to let that guy touch me again. So I immediately got in my car (I really should not have been driving) and drove up to the valley in LA to see my dad and schedule a meeting with my mom’s oncologist (she had passed away just two years before from metastatic breast cancer). The following weeks were a blur. I had two surgeries to remove the tumors and most of the lymph nodes in my upper body. The doctors knew that it was lymphoma, but could not tell what kind. My doctor, remembering something from medical school, called a geneticist. His hunch was right. I not only had Stage IV Non-Hodgkins Lymphoma, but also Gaucher’s Disease Type 1.

I was floored that this was happening to me. There was so much to learn about both and a complete change in my life. The doctors told me to focus on the cancer treatment and deal with the Gaucher’s later (even though both my spleen and liver were enormous and I had infractions in my legs and hips). I did. I stayed positive and fought. I went on a year of treatment with chemo and radiation. It was aggressive. I lost my hair (including my eyebrows, which is my defining feature) and a ton of weight. I was in and out of the hospital for months. Luckily, I prevailed. By September 2003, I was told I was in remission. It was an incredible feeling and I was ready to take on the world again.

I started law school in the fall of 2004. I went to law school at night and worked full-time during the day as a clerk for an estate planning firm. I was back to pushing myself and not taking no for an answer. After going through the cancer treatment, I felt I had a new, stronger outlook on life and I could accomplish anything. The fatigue and pain started again in the beginning of my second year. I was exhausted and felt like every joint in my body was starting to hurt. I met with the doctors again. Some said some ridiculous things to me, like I won’t live until I am 30 and Gaucher’s disease will make my bones crumble. I finally found a doctor who knew what he was talking about. He put me on Cereyzme and I started getting infusions every two weeks.

At first, it was tough. The infusion center was with other patients getting cancer treatments. I felt like I was right back where I started with the lymphoma, except this time it would be for the rest of my life. Things change though and my optimism was still there. Eventually, it became routine. I started feeling better. The pain went away and I could manage my energy. I finished law school, got married, moved to Orange County and eventually started my family. I now have a son now who is 4 ½ and everything to me.

There is one more turn to my story. I started Cerdelga in February 2015. The pill again changed my life. It gave me more energy and I no longer had to deal with the infusions. No more searching for veins, no more pricks and no more energy fluctuations right before the infusion. A friend urged me to start working out and, specifically start something called Crossfit. At first, I was terribly out of shape and, frankly, embarrassingly weak.  I kept at it though (almost every day at 5am). At my yearly check-up, my doctor was astonished with my progress. My bone density was the “densest” it had ever been. My blood results were great. My weight was great (the heaviest I have ever been). Most importantly, I feel great.  It had truly changed my life for the better.

If anyone ever wants to talk with me about my story or what they went through, I am always happy to do so. I think the Gaucher community is strong and is a great resource for people also going through the same thing. Doctors can say crazy things and it is always best to confide in friends, family and others who are dealt the same lot in life.

-Marc Garelick; Orange County, CA