5-Year-Old Diagnosed with Rare Autoimmune Disease to Undergo Bone Marrow Transplant

Paige Neale is a lively 5-year-old girl living with a rare and debilitating autoimmune disease. Image courtesy of Fox News.

5-year-old Paige Neale of Maryland has an autoimmune disease so rare, scientists believe that there are only 100 people on the planet who have ever had it.

The disease is called lipopolysaccharide-responsive and beige-like anchor protein deficiency, or LRBA deficiency for short. The autoimmune disease causes Paige’s body to attack her joints and internal organs, like her stomach and lungs. Paige was diagnosed with the rare autoimmune disease when her parents noticed that she was getting sick a lot more often than her fellow peers her age, including suffering from swollen joints and various GI issues.

Commenting on his daughter’s diagnosis, Mike Neale said: “It’s such a tough diagnosis because you don’t know what to expect…what laid ahead for her, and what do we do next?”

According to the National Institute of Allergy and Infectious Diseases, the disease is caused by a genetic mutation in the LRBA gene. Patients with the condition are highly susceptible to infections, especially of the upper respiratory tract. LRBA deficiency can also cause various symptoms, including poor blood clotting, anemia, weakness, fatigue, joint pain, stiffness, and eye inflammation (uveitis). It can also make patients more susceptible to developing other autoimmune conditions, such as vitiligo, psoriasis, and type 1 diabetes, which cause additional symptoms as well.

For her part, Paige was also diagnosed with the autoimmune condition juvenile rheumatoid arthritis in addition to LRBA deficiency. To keep her alive, Paige receives bi-weekly shots that cost thousands of dollars, but a new procedure is giving Paige’s family hope for the future. Their little girl is to receive a bone marrow transplant in April from her 3-year-old sister, who happens to be a 100% match.

“Right now you look at her, and she looks like a completely healthy five-year-old girl,” said her father Mike. He continued, “We tend to forget how sick she was leading up to that, so we question ourselves: Should we be putting her through this bone marrow transplant that is going to destroy her immune system and make her really sick?”

If the procedure is successful, however, Paige will no longer need to get bi-weekly injections, and she’ll be able to go on to lead a normal life – an end result that her father says is the ultimate goal. Paige enjoys skiing and horseback riding – activities that have given her and her family a sense of normalcy during the COVID-19 pandemic, and throughout her vigorous treatment regimen.

To follow along with Paige’s heartwarming story, check out the Pray 4 Paige Facebook Group.

10 Facts About Type 1 Diabetes

10 facts about type 1 diabetes. Image courtesy of the Nursing Times.

According to the Centers for Disease Control & Prevention (CDC), type 1 diabetes is an autoimmune disease in which the body’s own immune system destroys pancreatic beta cells that produce insulin. Without sufficient insulin, glucose levels build up in the blood and become too high, resulting in potentially life-threating symptoms. Read on to learn 10 interesting facts about type 1 diabetes.

1. T1D is less common than other forms of diabetes

Type 1 diabetes is less common than type 2 diabetes; approximately 5-10% of people living with diabetes have type 1. However, type 1 diabetes is far from a rare disease. According to Beyond Type 1, In the United States alone, 1.6 million Americans live with T1D, and an estimated 64,000 people are diagnosed with the condition each year. In fact, it is estimated that 5 million people will be diagnosed with T1D by 2050.

2. T1D is often diagnosed at a young age

Type 1 diabetes is usually diagnosed in children, teens, and young adults, but it can develop at any age. Because type 1 diabetes is caused by an autoimmune reaction, the destruction of beta cells can go on for months or even years before any symptoms appear in the patient. Type 1 diabetes can be diagnosed through a simple blood test, such as an A1C test, which measures your average blood sugar levels over the past 2-3 months. An A1C level of 6.5% or higher indicates you have diabetes.

3. There are several risk factors for T1D

Although the exact cause of type 1 diabetes is unknown, certain genes can make you more susceptible to developing T1D. Studies have shown, for example, that children with a genetic predisposition for and a family history of type 1 diabetes have more than a 1 in 5 risk for developing this autoimmune disease.

However, many people with these genes won’t go on to develop the condition even if they have a genetic predisposition. For that reason, environmental triggers, such as exposure to viruses, are also thought to play a part in the development of type 1 diabetes. Contrary to popular belief, diet and lifestyle habits do not cause type 1 diabetes.

4. Insulin is key to managing diabetes

T1D patients need to take insulin shots, or wear an insulin pump, every day to manage their blood sugar levels and get the energy their body needs. Patients with type 1 diabetes should work with their doctor to determine the most effective type of insulin and dosage that are right for them. Types of insulin range from ultra rapid-acting insulin, to rapid-acting, short-acting, intermediate-acting, long-acting, and ultra long-acting.

In addition, T1D patients also need to check their blood sugar levels regularly. By keeping their blood sugar levels close to a target determined by their physician, patients can prevent or delay further complications. Blood sugar levels can be monitored through the use of a blood glucose monitor and finger sticks, or a continuous glucose monitoring (CGM) system.

5. T1D causes a variety of symptoms

Type 1 diabetes symptoms can vary from patient to patient. According to the Mayo Clinic, some signs and symptoms of type 1 diabetes include: increased thirst, frequent urination, bed-wetting in children, extreme hunger, unintended weight loss, bacterial and fungal infections of the mouth, gum disease, irritability and mood changes, fatigue and weakness, and blurred vision.

Another common complication of type 1 diabetes is hypoglycemia, otherwise known as low blood sugar. This occurs when the patient has too much insulin, or has waited too long for a meal or snack, or simply hasn’t eaten enough food. It can also be caused by getting extra physical activity.

6. T1D can be disabling

Type 1 diabetes can result in complications affecting various bodily systems. For example, T1D can cause nerve damage, also known as neuropathy. Symptoms include tingling, numbness, burning or pain in one’s extremities. This can also cause gastrointestinal issues, like nausea, vomiting, diarrhea, or constipation. In men, erectile dysfunction can be an issue.

Foot damage may also occur, as a result of poor blood flow to or nerve damage in the feet. If not treated, cuts and blisters in the feet can turn into serious infections that may require limb amputation.

T1D may also cause kidney damage, resulting in kidney failure or irreversible end-state kidney disease, which requires dialysis or a kidney transplant.

It’s less commonly known that type 1 diabetes can also cause eye damage. The blood vessels of the retina become damaged (called diabetic retinopathy), potentially causing blindness. Diabetes also increases the risk of developing other vision conditions, like cataracts and glaucoma.

7. T1D can be life-threatening

Type 1 diabetes can in fact be life-threatening. For instance, T1D can cause cardiovascular problems like high blood pressure, coronary artery disease, chest pain (angina), atherosclerosis (narrowing of the arteries), heart attack, and stroke.

Another life-threatening complication of type 1 diabetes is diabetic ketoacidosis (DKA), a state in which your body cannot use the sugar in its bloodstream to produce energy, so it starts to break down fat as fuel. This causes ketones to be released into the body. If the level of ketones in your body becomes excessively high, this can result in a coma or even death. Some warning signs of DKA include dehydration, extreme thirst, flushed skin, nausea, stomach pain, vomiting, shortness of breath, fruity-smelling breath, and disorientation.

8. Lifestyle changes can make a difference

Although type 1 diabetes isn’t caused by poor diet or lifestyle habits, maintaining healthy lifestyle habits can go a long way to improving your overall health and wellbeing. Such habits include stress reduction, getting sufficient sleep, making healthy food choices, being physically active, and controlling your blood pressure and cholesterol levels.

Maintaining a close working relationship with your medical care team, and regularly attending your appointments, are also important in managing your type 1 diabetes. Your care team may include your primary care physician, endocrinologist, podiatrist (foot doctor), ophthalmologist and optometrist (eye doctors), dentist, pharmacist, registered dietician, and more.

9. Type 1 diabetes can develop during pregnancy

Type 1 diabetes may develop in women who are pregnant, a condition referred to as gestational diabetes. This occurs when blood sugar levels become high during pregnancy. Gestational diabetes affects up to 10% of women who are pregnant in the US each year. While gestational diabetes does go away after giving birth, it can impact your baby’s health, and raises your risk of developing type 2 diabetes later in life.

10. There is hope

If you are a type 1 diabetes patient, it’s important to get the support and resources you need to manage daily life with the condition. Here are a few resources that may help:

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Berkeley Alumni Create Startup Focused on Autoimmune Disease Therapies

Geo Guillen, Marco Lobba, and Matthew Francis, the co-founders of autoimmune disease biotechnology company Catena Biosciences. Image courtesy of Berkeley News.

Marco Lobba was pursuing his PhD in Chemistry at UC Berkeley when he and his lab partners made a discovery. He had been studying the modification of proteins when he happened upon a technique called “oxidative coupling,” which modifies proteins so that they can be fused together. He and his partners also found that the enzyme tyrosinase could be used to make oxidative coupling much faster and more efficient. Tyrosinase is a naturally-occurring enzyme, found in fruits and vegetables, and is responsible for turning apples and avocadoes brown as they ripen.

The accelerated oxidative coupling method could be used to fuse proteins together, faster and more selectively, than any other method currently in use. This opens the door to treating autoimmune diseases, which attack the body by convincing a person’s antibodies to attack their own healthy cells. Using this discovery, scientists can attach ‘safe’ signals to healthy cells, helping the body’s immune system identify its own cells and refrain from attacking them.

“Think of it almost like Pavlov’s dogs,” explains Lobba. “Or tricking children into eating their vegetables by covering them in cheese,” he elaborated. “If you present the immune system with something it likes — at the same time as something it is attacking — it starts to associate that target as a good thing.”

Lobba presented his discovery during a course on entrepreneurship at UC Berkeley’s Haas School of Business. During the presentation, fellow classmate Geo Guillen saw how passionate he was about his research, and the value of his discovery in the treatment of autoimmune disease. It was this purpose that drove the pair to work together alongside Berkeley Chemistry professor, Matthew Francis, to co-found a startup called Catena Biosciences, focused on making autoimmune disease therapies.

Their startup launched remotely during the COVID-19 pandemic, at a time when biotechnology and pharmaceutical companies have come into focus for the role their organizations play in helping to keep our communities healthy and thriving. The startup has been valued at $10 million for its innovative technology and ground-breaking research.

Guillen commented on his company’s founding, saying: “We identified that the autoimmune market is one that is particularly ripe for disruption because a lot of the approaches to treating autoimmune disease focus on the symptoms, instead of the root cause. It’s a pretty large, untapped market.”

Catena Biosciences is aiming to conduct pre-clinical trials by the end of August 2021, which will test the impact of their therapeutics on autoimmune disease reactions in patients. Next month, the company will be looking to raise more funds for their startup to help them commercialize the treatment. The founders’ hope is that they can have a positive impact on those living with autoimmune diseases, like multiple sclerosis, lupus, and Type 1 diabetes.

The company has been awarded the 2021 Berkeley Big Ideas Award for their entrepreneurial endeavors. To learn more about Catena Biosciences, read about the company on the Berkeley News blog.