To learn more about Rachael’s story, Niemann-Pick type C (NPC) symptoms, the diagnostic process, and how her mother Debbie found and offered support to other families, take a look at Parts 1 and 2. Today, Debbie describes the final stages of Rachael’s life, how she advocates for the NPC community, and what changes need to be made to better serve families.

The Final Stage of Rachael’s Life

Parainfluenza and Pneumonia

Rachael was hospitalized for parainfluenza in September 2018, for which antibiotics didn’t work. Her family spent the next month and a half in the hospital with her. During her time in the hospital, Debbie explains that she had to constantly educate the doctors and nurses about NPC:

Having to explain the illness is one of the biggest problems. None of the medical staff had ever dealt with a patient with NPC. They could’ve killed Rachael many times by trying to feed her food that would have made her choke. We couldn’t leave her for a minute. Some doctors and nurses will ask you for information, but some don’t want your opinion. Sometimes I’d have to explain not to assess whether or not she had a concussion by asking her the name of the President of the US.  Her illness caused cognitive decline, so that’s why she didn’t know. When they would try to figure out why she fell, I had to explain that her disease caused her to fall for no other reason.

I had to stop them from insisting they could get her to swallow pills if only I would let them try.  They would do more harm than good by trying. During one hospital visit, they seemed to be keeping Rachael longer than necessary. When I asked why, they explained that they were waiting for her platelet count to go up.  I had to explain that they would never go up because that was a symptom of her disease.

Rachael passed away on October 25, 2018 at age 33. Debbie says:

I kept telling the doctors that her condition was worsening, that the flu had turned into pneumonia. At first, they didn’t believe me, but when they finally took a chest x-ray, they saw she had a serious case of pneumonia. They started her on the usual course of antibiotics. When that course of antibiotics was finished, they told us she was going home.  I told them she couldn’t go home because she was still too sick.

Even though it was protocol to stop the medication at this point and send her home, I tried to explain that she was different from typical patients. She needed more antibiotics and she still had a low grade fever. They sent her home anyway. She was hospitalized again a week later because her fever spiked, but by that time, the pneumonia had taken over, and there was nothing they could do for her. She died because by the time they did the right thing, she was too weak.

Debbie describes the funeral as absolutely beautiful. Rachael touched those around her; over 300 people attended.

NPC Education

Following Rachael’s death, Debbie began wondering how she could make a difference for other families affected by NPC. Of course, she grieved her daughter’s death, but explains:

We also had anticipatory grief, which means grieving someone while they’re alive. When Rachael passed, we were devastated, but we had been grieving for a very long time. We grieved every loss of ability, every special life-cycle event that didn’t or wouldn’t happen, every door that closed to Rachael’s quality of life.

Debbie wanted to use this grief as a driving force, to help others who had a loved one suffering from NPC. She worked with a hospital doctor and the National Niemann-Pick Disease Foundation to develop a form which explains NPC, symptoms and risks, and other details. This form can be given to a nurse or doctor when the patient comes to the emergency room or is admitted to the hospital. The Foundation now encourages patients to fill this out on their own to improve medical care.

She has also helped fundraise for the Ara Parseghian Medical Research Foundation, Chase the Cure, and the National Niemann-Pick Disease Foundation. Debbie has also shared her story with industry leaders including those at Cyclo Therapeutics, a company that is conducting a Phase 3 clinical trial to develop a treatment for NPC.

However, one thing that Debbie hopes to see more of is education and awareness, especially in the medical realm. She shares:

Rare diseases need education and every doctor needs to be trained. Many doctors’ reaction about NPC when they meet Rachael for the first time is that they seem to remember hearing something about it in medical school. NPC has such a wide variety of symptoms, it can be very difficult to diagnose. If a doctor is puzzled by symptoms or the treatment they have chosen isn’t working, consider NPC. If there are symptoms that don’t seem to fit together, consider NPC. Rachael was examined by top neurologists at Columbia and New York Presbyterian but neither one noticed her vertical palsy because they didn’t know how to look for it. Awareness among doctors needs to be 100 fold what it is.

So how can we increase that education and awareness? Part of it is, of course, sharing the stories of those impacted. Debbie has shared Rachael’s story — via voice, writing, and even speaking in-person to the FDA on a parent panel. It is important to highlight that these patients are not just facts and statistics; they are actually people, loved by those around them, who need medical advances to save their lives.

Advocating for the NPC Community

On October 21, NPC families, alongside some doctors, held a Virtual Meeting on the Hill to speak directly to members of Congress about medication access. Medications such as adrabetadex and arimoclomol have not been approved by the FDA. If they are not approved soon, there is a good chance that they will become inaccessible to patients using them now and those diagnosed in the future.

For this meeting, every member of Congress received an invitation to learn about NPC, the struggles with the FDA, and how they can help individually or as a group. Along with other NPC families across the country, Debbie contacted members of Congress from her state and district to personally tell them about NPC, Rachael’s journey, and invite them to the meeting. While Debbie did not speak at the meeting, she wrote part of the documents that were distributed to members of Congress that explained NPC.

Debbie has also helped the medical industry. She was on a caregiver’s committee for Orphazyme, the company that makes arimoclomol. Also, after speaking virtually at the Niemann-Pick UK conference, Debbie was asked to speak to a group of scientists and researchers who were working on a better way to diagnose all lysosomal storage diseases. She spoke about NPC, Rachael’s journey, and then answered questions they had about helping the NPC community. She explains:

In the UK, since medical data is centralized, everyone can get the complete medical records of a patient much more easily than in the US. A doctor who diagnoses someone as bipolar will probably not see that another doctor also diagnosed this patient with low platelets. This group is working to create algorithms for lysosomal storage diseases. If one doctor diagnosed Rachael with an enlarged spleen it would go into her medical history. Then if another doctor  diagnosed a low platelet count, that symptom would also be logged in. When enough NPC symptoms were logged, Rachael would be flagged as someone who should be tested for NPC.

Offering Support

I was also touched by Debbie’s genuine desire to connect with and help other families. For families with a newly diagnosed loved one, she tells them that it won’t be easy, however, there are people who can help.  She tells those who she connects with about Rachael, the conferences, understanding the symptoms, and how to find companions. When she spoke with one mother, she provided a list of action items on what they needed to do first. For others, she offers advice, such as using Simply Thick, a gel that, when added to a liquid, makes swallowing easier and even comes with travel packets. She wants to help families where they are now.

For parents of children who have passed, Debbie tells them that you can be happy and sad at the same time. It’s also okay, she says, for people to seek out things that will make them happy without feeling guilty. She explains:

We didn’t go out for a long time after Rachael passed.  We just didn’t have the strength.  When we did start resuming parts of life, we felt guilty, asking ourselves, how can we go out? How can we have fun when our daughter has passed away? This is about putting one foot in front of the other. It isn’t about finding the good in this, because there isn’t any. It’s a lousy journey.  However, once your loved one has passed away, don’t give up the things that could make you happy. Take baby steps getting out in the world again. Get your nails done, it’s okay.

So for Debbie, sharing the realities of the situation with other families is crucial. Debbie expresses one huge piece of advice to families of loved ones who are older or who have greatly declined:

There’s a good chance you will come to a time when you have to make a decision: hospice or not hospice. It is very difficult to make that decision during a crisis. You need to talk about it before a doctor needs an immediate decision. The head is often ready, but the heart never is.

There is still a long way to go in the fight to improve care, access, and treatment for patients and families with NPC. But with mothers like Debbie being part of the charge, I have no doubt that their love and memories can be a big help to the NPC community.