Friday, August 04, 2017

Special Needs Spotlight || Marian

Hello! I am so happy to share our family’s story. We are a family of four living in a Los Angeles suburb (it’s an out there suburb). Our oldest Emily is four and Marian is almost two. In February of this year Marian was diagnosed with the early stages of a fatal and progressive genetic condition called Niemann Pick Type C. Without help she probably won’t live to be more than five or six. Our world shattered but we quickly were able to find hope in a very promising experimental treatment...in Chicago. We went back and forth every other week for three months and now happily get the treatments in Los Angeles. When Marian was diagnosed at 18 months she couldn’t walk a single step. Today, after four months of treatment she can walk across the room. We’re doing all we can to raise awareness for her condition and are sharing her journey on Facebook (Hope For Marian) and hopeformarian.com if you’d like to follow along - we hope that you will. She’s small but mighty and pretty cute, too!

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Miggy: Hi Sara and welcome. I'm am so glad you reached out to share your family's story and particularly your daughter Marian. Your daughter Marian has a very rare and life threatening disorder called Niemann-Pick Type C or NPC for short. What were the first signs and symptoms you saw in your daughter that told you something wasn't quite right? How long did it take you to get a diagnosis and do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?


Sara: Thank you! When Marian was born she always seemed very delicate and small, but so full of love. I noticed right away that something was just a little off in very subtle ways but I couldn't put my finger on how to describe it. Her legs were very thin. She was very sleepy and almost never cried. She would spit up sometimes when eating, really massive amounts, out of nowhere. She wasn’t very strong and needed a lot of support. When she got to be six, seven months she wasn't even close to sitting up. But there were so many things Marian was doing "right" - her doctor wasn't too worried. The symptom that ended up ringing the alarm bells was an enlarged spleen which her neurologist found around a year old.

It took about seven months of constant appointments with specialists, dozens of blood draws, MRIs, ultrasounds, and an EMG to get the diagnosis. We saw three neurologists, a neurosurgeon, a geneticist, a neurodiagnostician, two GIs, two hematologists, and an infectious disease specialist in that time. It was really intense!

When we got the diagnosis it felt like all the air left the room. The most horrible feeling. We ended up getting the diagnosis through DNA whole exome sequencing. The doctor called on the phone with the results. I had been reading about NPC on my own and knew immediately NPC is fatal. NPC doesn't have a cure. I thought right away, she's going to die. How can my baby who is smiling, laughing and getting stronger in my arms going to slowly slip away, suffer and die. I cried and cried as did my husband.


Today I still feel terrified but I see a path for Marian to survive this, she’s started an investigational treatment that is helping her tremendously. While the reality of the diagnosis hangs over our heads all the time, we are also pushing back against it thanks to the efforts of others that paved the way before us. Throughout this entire process I’ve felt like we needed to gear up to face some serious challenges, but at the same time we would be able to and she would be ok. On most days I still feel that way, on the harder days it's - well a lot harder. Ultimately, I feel frightened and sad in many ways, but the biggest part of me feels happy, grateful, hopeful and motivated.


Miggy: Will you please educate us on Nieman-Pick Type C and explain how this condition affects Marian and your day-to-day life?

Sara: NPC is a metabolic problem or what’s called a “lysosomal storage disorder.” It’s more commonly and easily referred to as “Childhood Alzhiemer’s.” Basically, everyone has two NPC genes that help their cells move and dispose of cholesterol and other materials that the body makes. In most people, both genes work normally. For NPC carriers one of these genes is fine and the other doesn’t work well or at all, but you’d never know it (we had no idea). For kids who unknowingly inherit each bad gene from their carrier parents (a 1 in 4 chance), they get NPC. For kids with NPC their cells can’t get rid of enough of the cholesterol that the body makes and it builds up, eventually becoming toxic and killing the cells. The build up happens all over the body but is most dangerous in the brain, where when those cells start to die it causes a horrific progression of symptoms.

For a child with NPC it can present in a lot of different ways. Some kids are born with severe symptoms but most are completely healthy and develop normally for years. It’s so sad to think that this may be in Marian’s future but here it goes. An otherwise healthy child might have an enlarged spleen and/or liver as an early symptom. At some point a child who was running around, climbing jungle gyms etc will start to slow down. They’ll lose the ability to move their eyes up and down - this is considered a warning sign for serious neurological damage. They’ll begin having trouble swallowing, eventually completely losing the ability to swallow. Speech will slur, eventually losing the ability to speak at all. Trouble with balance, lots of falling and coordination trouble, eventually losing the ability to walk and then move at all. Memory is impacted with forgetfulness leading to dementia symptoms. The earlier the neurological symptoms start the faster this all happens. Without help half of the children don’t survive age 10. But, don’t give up, there’s hope!

In some ways NPC doesn’t change our day to day at all, and in others it’s changed everything. Marian is getting so much better and stronger but she’s still impacted, she’s almost two and she’s wobbly on her feet but walking, her speech is delayed, her belly is enormous from her spleen. We have lots of services and appointments that rule our schedule, physical therapy twice a week, occupational therapy and speech therapy. Hearing loss is both part of the disease and the treatment so we monitor that closely.. We’re connected to a huge new support community to fight NPC together. Every other week we bring her to the hospital where she’s put under anesthesia to receive a lumbar puncture to inject the treatment into body to help clear the build up and prevent or slow the disease progression. That’s been a huge adjustment with lots of unknowns but we feel incredibly lucky and grateful to have this chance. Between all this it can make it hard to find time to be a normal kid but we’re trying.

Miggy: What are the biggest worries you face for your Marion? On the flip side, what are your hopes for Marian and her condition as she grows?


Sara: I worry so much about her suffering. For every skill she is gaining now, it’s in the back of my mind, will she lose this one day? Will she suffer? It’s unbearable to think about. For hopes, I can only focus on the (reasonable) hope that she will stay ahead of the curve and the treatment she’s receiving will hold the progression at bay for the next treatment to move through the pipeline and help as well, and so on. NPC is a complex disease and there probably won’t be one magical answer to solve it, but instead a “layered approach” of treatments to work together. The first piece of the puzzle is here with the treatment she’s receiving, which still needs FDA approval which terrifies me. I so hope she will have a happy and healthy childhood. I worry about her feeling like she’s “looking in on life,” I want her to enjoy her life, to love and be loved and engaged in all the stages of her life. I hope she and her sister Emily can grow old together and have each other as close friends, confidantes and sisters for decades to come. They love each other so much.


Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations? 


Sara: Well this is pretty gross so no offense if you don’t end up sharing it, but it’s what is coming to mind! So, definitely the answer to this is throw up. One of Marian’s early symptoms was gagging easily and throwing up when crying or eating (which is better now thankfully) but we got extra well acquainted with throw up in all sorts of scenarios to the point it has an edge of humor.

We got a big laugh in an exhausted and don’t sweat the small stuff way during her EMG. The EMG sends little electric currents through her muscles and she was screaming (not out of pain but understandable anxiety). Paul was dressed in a suit to go into work afterwards and held Marian on his lap facing the doctor who was leaning over her. I warned the doctor, “I think she’s about to throw up,” and the doctor (a world wide specialist) calmly and nicely said, “It’s ok, I have a change of clothes in my office.” Marian very promptly turned her head a different direction and threw up all over Paul. Without missing a beat, the doctor said, “well I don’t have a change of clothes for dad in my office.”


Miggy: You told me in your email that at first glance Marian seems pretty OK, but then you might start to notice her slow speech or delayed walking. Marian not only walks this line between a condition you can see and a condition you can't see, but between doctors appointments, twice monthly spinal injections and a possibly fatal condition and so many unknown questions how would you like friends, family members and even strangers to treat your family and Marian? Is there something you wish other people knew so as to avoid awkward or hurtful situations?

Sara: Overall we’ve felt so supported by our friends and family which we are unspeakably grateful for. Ideally, I’d love for people to cheer Marian on but also show sensitivity to her needs. It does hurt my feelings when people close to us don’t check in on how she’s doing and act like everything is fine and normal. Even though I hope she can be treated normally, this is not a normal situation and we need all the support in many different ways to keep going in order to help her keep going. The absolute best thing people can do is be there for us and Marian, ask how she’s doing and stand by our sides in our efforts. It can be scary and isolating. Even just an extra friendly smile or note can make all the difference.


Miggy: I know from firsthand experience what a special role siblings can play in your special needs journey. Is there anything you’d like to share about your other daughter and her relationship to Marian?

Sara: Emily is Marian’s biggest cheerleader and supporter. They seriously will hold hands in their carseats sometimes (75% of the time it’s adorable, 25% percent one of them screams quite loudly and refuses their hand). I am so proud of Emily for who she is as an individual and also as a big sister to Marian. We worry a lot about how this is all impacting Emily and she was starting to ask questions about why Marian wasn’t learning to walk when the other babies in her class were. Emily is right there in Marian’s physical therapy offering her toys to keep her motivated, holding her arms out to encourage her to walk, slyly looking at her out of the corner of her eye as Marian crawls to lay on the floor exactly like Emily does, and is the first to proudly share Marian’s latest accomplishments. Emily is tremendously strong, compassionate, intuitive, nurturing, funny and loving in her own right - and we love and admire her so much.

Miggy: What is the biggest lesson you’ve learned since becoming Marian's mom?

Sara: This one is easy: don’t sweat the small stuff. Be grateful. Be happy. It’s all relative. Even though there is bad, there is so much good in the world. Most people are mostly good (but some are real stinkers). There is so much love to give to and receive from our beautiful girls, and that’s what happiness is. Enjoy the little moments today. Fight for the future ones.

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Sara thank you so much.  That was beautiful. I loved your response to the last question and the fact that it must really be so easy for you to see "Don't sweat the small stuff. Be grateful. Be happy. It's all relative." It reminds me of a women I remember hearing who lost her husband and son suddenly and tragically when she said, "We were so happy and we didn't even know it." Perspective. It changes everything doesn't it? And I'm so grateful for that amazing sisterly love, and I too remember a big sister who often cheered her little sister on during many hours of therapy. What a gift they are to each other. I hope and pray that Marian will continue to get the treatment she needs and continues to progress and thrive. Please keep us updated and let us know how we can support your daughter and spread awareness around NPC. 

Thanks for your continued support friends. I love sharing these stories, especially the hard ones. We need each other. If you or someone you know would like to be a part of the special needs spotlight please email me at thislittlemiggy at gmail dot com. 

Have a great weekend!
XO, 
Miggy

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