Mom Opens Up About Her Rare Disease After 20 Years Of Pain and Uncertainty

Donna is an Alnylam Patient Ambassador. Her symptoms and treatment experience may not be reflective of other individuals’.

After nearly two decades of dealing with debilitating pain, stomach issues, and uncertainty about her health, Donna is finally sharing her story with the world, in the hopes that it might help others find answers.

It all started when Donna was in her mid-twenties. Donna found out she was pregnant with her second child, and she was so excited for her daughter to have a younger sibling. After her first pregnancy went exactly as she expected, Donna assumed her second pregnancy would be similar — but it couldn’t have been more different. Throughout her pregnancy, she was in and out of the hospital for dehydration. She lost 40 pounds. Donna assumed her symptoms would let up after she had the baby, but when her son was born, everything just got worse. She constantly experienced weakness, nausea, vomiting, and abdominal pain that left her doubled over.

Donna knew she needed help, so she started visiting doctors: gastroenterologists, neurologists, psychologists, and rheumatologists. All the doctors said the same thing: there was nothing wrong. One of Donna’s doctors suggested that she go on disability.

As a 26-year-old with two young kids, Donna knew there was absolutely no way she’d be able to provide for her family on disability. Instead, she went back to college and worked full-time despite her lingering health issues.

Every day she suffered from insomnia, nausea, vomiting, and severe abdominal pain. After graduation, Donna got a job as a respiratory therapist at a hospital.

When she got pregnant with her third child, Donna’s health declined even more. Again, she was in and out of the hospital for IV fluids and nausea medication. She hoped things would get better after she had her son — but again, things just continued to get worse. In addition to the constant abdominal discomfort, Donna experienced fatigue, brain fog and confusion, muscle weakness, and shortness of breath. She felt like she was being stabbed in the stomach with hot knives and she vomited every few hours.

She continued to see doctors, but after all sorts of diagnostic tests, they still didn’t have answers. Finally, a fourth-year resident at the hospital asked Donna if she’d ever been tested for porphyria. Donna had never even heard the term before, but she quickly agreed to the urine sample. It was then, nearly a decade after first experiencing symptoms, that Donna was diagnosed with acute intermittent porphyria (AIP), a type of acute hepatic porphyria (AHP).

AHP refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic debilitating symptoms that negatively impact daily functioning and quality of life. While severe, unexplained abdominal pain is the most common symptom, occurring in more than 90% of people who experience AHP attacks, patients may also experience nausea, vomiting, seizures, anxiety and depression, and pain in their limbs, back or chest. Because symptoms are similar to other, more common conditions, misdiagnosis is common; it can take up to 15 years for a patient to receive an accurate diagnosis, impacting their health and long-term wellbeing. AHP affects people of all ages, races, ethnicities, and genders, but it is most common among women between the ages of 15 and 45. In fact, approximately 80% of people with AHP are women.

Even after her diagnosis, Donna was constantly in and out of the hospital. When she was home, she was completely out of commission. Donna — along with her husband and three kids — had moved back in with her parents, where she was essentially bed-ridden. Her recurring AHP attacks made her unable to care for her family; she felt sick all the time and missed so many important family moments.

A few years ago, Donna realized she couldn’t live like this anymore. She was sick of missing out on her kids’ big moments, she was tired of being ill and in pain, and most of all, she missed being the wife, mother, and daughter she wanted to be. Donna, who had once considered going to medical school, decided to look into AHP herself and see if there was anything out there that could help. She found a clinical trial for a RNAi therapeutic being developed by Alnylam Pharmaceuticals, givosiran, which was later approved by the U.S. Food and Drug Administration as GIVLAARI® (givosiran) in November 2019 to treat AHP in adults. Donna met with a team of doctors who educated her about the monthly HCP-administered subcutaneous injection. They also discussed common side effects seen in the study, including nausea and injection site reactions. After some initial reservations, Donna decided to enter the clinical trial.

To her great joy, the treatment started to work. While she still has symptoms like nausea, she hasn’t experienced any AHP attacks since starting the trial and no longer feels like AIP completely controls her life. This is Donna's experience and may not be reflective of other individuals'. Please see Important Safety Information for GIVLAARI below. Without the burden of frequent AHP attacks, Donna is able to spend time with her kids, help out around the house, and is even thinking about going back to work. Now, Donna is sharing a message of hope with others who have AHP:

“I want others with AIP to know that it’s not a dead-end. It might take a little bit of time, but there are answers, there are resources, and there are treatment options. You’re not alone. So don’t give up—just take it one day at a time. Over the past 20 years, I’ve learned a lot about myself and what I can persevere through. It’s been a long path, and it’s far from over. But now, I have hope.”

Important Safety Information for GIVLAARI® (givosiran)

https://saac.instructure.com/eportfolios/266/Home/Ver1080p_Ejrcito_de_los_muertos_2021_Pelicula_Completa_ONLINE_Espaol_y_Latino
https://atrain.instructure.com/eportfolios/105/Home/VERHDEjrcito_de_los_muertos_pelcula_completa_gratis_en_Espaol
https://winnebago.instructure.com/eportfolios/508/Home/Mira_Ejrcito_de_los_muertos_2021_Pelcula_Completa_en_Espaol_Latino_Castellano
https://jwoodard.instructure.com/eportfolios/538/Home/Ejrcito_de_los_muertos_2021__VER_HD_P_E_L_I_C_U_L_A_COMPLETAS_ONLINE_GRATIS
https://vk.com/@639111766-ejrcito-de-los-muertos-2021-pelicula-completa-en-espaol-lati

Do not use GIVLAARI if you have ever had a severe allergic reaction to GIVLAARI.

GIVLAARI can cause:

• Severe allergic reaction

Tell your doctor or nurse right away if you experience any of the following signs or symptoms of a severe allergic reaction during treatment:

Swelling – mainly of the lips, tongue or throat which makes it difficult to swallow or breathe
Breathing problems or wheezing
Feeling dizzy or fainting
Rash or hives
Itching
If you have a severe allergic reaction, your doctor or nurse will stop GIVLAARI treatment right away and you may need to take other medicines to control the symptoms.

• Liver problems

Your doctor will check your liver function by doing blood tests:

Before you start using GIVLAARI
Once a month for the first 6 months of treatment
And when they think it is needed
If these tests show abnormal results, your doctor or nurse will decide whether to temporarily interrupt or stop treatment with GIVLAARI.

• Kidney problems

Your doctor will check how your kidneys are working while you are using GIVLAARI.

• Injection site reactions

GIVLAARI is given as an injection under the skin (called a "subcutaneous injection"). Reactions to this injection may happen during treatment with GIVLAARI. Tell your doctor or nurse right away if you experience any of the following symptoms of an injection site reaction during treatment: redness, pain, itchiness, rash, discoloration, or swelling around the injection site.

What are the common side effects of GIVLAARI?

The most common side effects of GIVLAARI are nausea and injection site reactions. These are not all the possible side effects of GIVLAARI. Talk to your doctor about side effects that you experience. You are encouraged to report negative side effects of prescription drugs to the FDA. Visit https://www.fda.gov/safety/medwatch-fda-safety-information-and-adverse-event-reporting-program, or call 1-800-FDA-1088.

What is GIVLAARI?

GIVLAARI is a prescription medicine used to treat acute hepatic porphyria (AHP) in adults.

For additional information about GIVLAARI, please see full Prescribing Information.

Talk to your doctor and visit GIVLAARI.com to learn more about this treatment option.