Lisa Champions the Importance of Advocacy After Her Daughters’ Shwachman-Diamond Syndrome Diagnoses (Pt. 2)

Before you read on, make sure to check out Part 1 of this story. 

What is Shwachman-Diamond Syndrome (SDS)?

First identified in 1964, Shwachman-Diamond syndrome (SDS) is a rare inherited condition that affects multiple parts of the body, especially the pancreas, skeletal system, and bone marrow. SBDS gene mutations have all been linked to SDS, although 10% of cases have no known mutation. Typically, SDS is inherited in an autosomal recessive pattern, meaning you must inherit two mutated genes to have this condition.

Symptoms of SDS most commonly manifest in infancy but may appear through early childhood. Potential symptoms can, but do not always, include:

  • Hypotonia (low/poor muscle tone)
  • Anemia (low red blood cell count)
  • Fatigue
  • Easy bruising and bleeding
  • Feeding difficulties
  • Short stature
  • Enlarged liver
  • Failure to thrive
  • Neutropenia (low neutrophil/white blood cell count)
  • Recurrent respiratory, ear, and skin infections
  • Skeletal abnormalities
  • Thrombocytopenia (low platelet count)
  • Increased risk of myelodysplastic syndromes (MDS) and leukemia
  • Greasy, foul-smelling stool

Treatment options may include growth factor therapy with granulocyte colony stimulating factor, orthopedic surgery, blood transfusions, pancreatic enzyme replacement, and intravenous antibiotics.

Learn more about Shwachman-Diamond syndrome.

A Diagnostic Shock

The family was on vacation in sunny Florida when they received the call. Yet they were left with more questions than answers. The metabolic geneticist didn’t know much about Shwachman-Diamond syndrome and couldn’t give them much information over the phone. Says Lisa:

She told us to enjoy our vacation and try not to Google too much. Even though it was scary, it was almost a relief because we finally had an answer. We knew what we were up against and were going to figure out how to help her.

Nora and Kayla, who both have Shwachman-Diamond syndrome
Photo courtesy of Lisa Superina

When they returned home from vacation, Lisa and her husband decided to have their other daughters tested for SDS. Both Maria and Emma are carriers, meaning they each inherited just one defective gene. But it was a shock to learn that Kayla, like Nora, did have SDS. Lisa states:

It’s funny, looking back, because Kayla never had any obvious symptoms and she still really doesn’t. She’s not neutropenic and has the best appetite ever, whereas Nora doesn’t like food much. They have the same mutations but completely different phenotypes. If Nora wasn’t born symptomatic, we never would have known about Kayla before it might’ve been too late. So I feel very lucky.

Thinking back, Lisa can note moments in Kayla’s life that now stick out: the ear infection that took four rounds of antibiotics to get rid of, the persistent cough, the month of her being generally unwell. But with treatment and care, both girls are doing well.

The Girls Today

Because Kayla and Nora are so young, neither girl understands yet that they have Shwachman-Diamond syndrome. Lisa explains:

I was in a meeting with an adult SDS doctor at the start of their diagnosis and his advice was to not let them feel different because the only difference between them and other kids is that they have more doctor appointments. They know they have to go to the doctor and get blood drawn more than their sisters. Soon they’re going to realize that it’s something they have.

My biggest thing is that I don’t want them to ever be fearful; I want them to be careful. I don’t want to homeschool them or prevent them from going to activities. We just worry about the bacterial stuff, so being careful is important. Kayla is in school and Nora is starting preschool next September, and both have a medical plan. But they can still do anything that everyone else does.

That being said, there are some complications with setting Nora up for school. Nora does not technically qualify for an aide or nurse to watch her and help with medication during the day, as these are normally given to children with special needs, whereas Nora is cognitively perfect. Lisa does share, however, that the school is definitely working to do all that they can to ensure that Nora will have a seamless and positive experience.

Nora and Kayla, who have Shwachman-Diamond syndrome, at a hematology appointment
Photo courtesy of Lisa Superina

Other means to help manage Shwachman-Diamond syndrome include bloodwork every three-four months, yearly bone marrow biopsies, Creon (pancrelipase) for Nora, and fever protocols. Whenever the girls get sick, they go to the emergency room and have automatic IV antibiotics as SDS affects their body’s ability to produce neutrophils. Says Lisa:

They can become septic if they can’t fight off a bacterial infection.

The bone marrow biopsies have shown that the girls are not currently in bone marrow failure. In terms of Creon, the pancreatic enzymes have helped Nora’s body to break down and hold onto food. Although she still has many feeding aversions, with the help of an amazing feeding therapist and the support of her family, she has come a long way.

There is a potential that Nora and Kayla will need bone marrow transplants in the future. However, both girls have zero bone marrow matches in the registry in the entire world. Currently, Lisa is holding local events to get college students to join BeTheMatch, a diverse bone marrow registry to assist with finding matches for people needing transplants.

If you’re a match (for anybody in the registry), you can save a life! Learn how to register for BeTheMatch.

A Push for Awareness

When it comes to best understanding and managing a rare disease, education is crucial. Lisa encourages people to educate themselves on their disease state, which can help with preparation. She shares:

My advice would be to research, get to know the disease, know what you’re up against, and find like-minded people with similar goals. Mine are to raise awareness and funds for research. I want to find a cure. So I’ve aligned myself with the SDS Alliance, since that is their goal too.  I’m on the board of the SDS Alliance since last spring, when I started getting involved. I like to help make connections.

To Lisa, many of these connections have formed online. In addition to joining all of the “failure to thrive,” neutropenia, and pancreatic insufficiency groups on Facebook, she began a TikTok account with the handle GirlmommyX4 to share videos on SDS, symptoms, and other information. She shares:

I wanted to encourage other parents to ask the right questions, push the doctors, and know when to ask for a second opinion. Just because someone doesn’t have all of the symptoms doesn’t mean that they don’t have the condition. You have to push for testing. I also want doctors to begin considering rare, because rare is not as rare as they think.

Lisa’s TikTok is also designed to show families that children with SDS could live a happy, fun, normal life. She appreciates messages from other families asking for advice and help with diagnosis. But most of all, she loves when parents can find relief that their children can have a normal life. In the end, she says:

Rare diseases deserve more awareness. And if I can make any dent in that, any push towards improved understanding, I’ve done my job.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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