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    Anna Violet Day - PMB/ZSD

    Anna Violet Day - PMB/ZSD

     

    Meet Anna Violet Day. She’s 5 months old. She has PMB/ZSD (peroxisomal biogenesis disorder-Zellweger spectrum disorder). PBD is a rare genetic autosomal recessive disorder. It’s generally terminal in childhood and there’s no cure for the disorder. The treatments for it are symptomatic and different types of symptoms are hearing loss, vision impairment, global development delays, neurological issues, adrenal insufficiency, feeding difficulties, liver and kidney issues, and it can really affect any and every aspect of the body. 

     

    When asked about the parents’ initial reaction to finding out their daughter, Anna, had this rare genetic disorder, they responded with, “When we first found out, there were lots and lots of tears. We were still in the NICU when we found out. For me it was more shock than anything, like it was kind of hard to fathom that our daughter had been given this diagnosis and that there is no treatment or cure. It kind of gave us like a brick wall.” Their reactions are completely justified. It’s hard finding out your child has a rare disorder that not many have heard of. It can put your child in a danger zone when no one knows what rare disorder your child has and has no idea what to do to treat their symptoms. They said, “We were quite lucky as far as our diagnosis goes,” says the father, “We live in Tennessee and they take part in newborn screenings, which does screen for certain chromosomal issues. Not her disorder specifically, but it picked up the fact that there was an abnormal chromosomal issue and then after further DNA testing, we were able to narrow it down to find out exactly what.” I had asked them how long these screenings and testings took. They told me that the first test took about 2 weeks and, “when the abnormal results came back, they retested to make sure and it came back abnormal again. They told our doctor exactly which genes had the abnormality. They took her DNA and it was synced to Baylor University in Texas for further screening to give us an official diagnosis.” The doctors that had diagnosed the baby had no idea what Anne could have had. “They did what almost every doctor does. They Googled it at first. The sad part is that about 90% of everything on Google is either outdated or wrong. We were just lucky in the fact that the hospital she was born at was more than willing to fess up to the fact that they had no idea what it was. Luckily, we’re in Nashville, so we’re close to Vanderbilt University where there actually was a physician who was familiar with it. They pretty much built an entire team at Vanderbilt for her. They even brought in doctors from Canada for her.” This family was extremely blessed to have people who knew what they were doing to treat her. Many families I have interviewed were confused throughout the whole process and still have no clear idea as to what their child has. The fact that they set up a whole team for Anna Violet is amazing. 

     

    Anna Violet’s dad told me about a foundation that really, really helped them in a time of need, The Global Foundation for Peroxisomal Disorders. It’s a kind of organization that really helps bring sciences and researchers and doctors together with the families. They help fund research. They work with Harvard University and McGill University in Montreal. They have a scientific board made up of pediatricians from the researchers from Switzerland, China, and all over the world. The father tells me how they brought them to Washington, DC for their biannual family/scientific conference where they were able to get Anna Violet examined by the scientific board. Anne is truly blessed to be receiving all the help she is getting. They have had around 509 registered patients, and 250 living patients currently. 

     

    The next question I asked the family was how their daily life is. They told me that their daily life was very complex, because Anna does have feeding issues. They told me that they feed her every 3 hours. “Part of the issues is that she’s not able to break down long chain fatty acids. She needs a very specific type of formula that she can use. It’s made from a plant based protein. It makes it easier for her liver to process things. We have to check her temperature every couple of hours. She gets cold really quickly.” They go through physical therapy, speech therapy, the normal stuff everyone does with a baby. Caring for Anna, they tell me, is definitely a 24 hours thing. The mother had to quit her job in order to care for the baby, however, the father keeps on working. It’s definitely a struggle to have one income supporting a whole family, especially a child with such a rare disorder and require special attention and treatment.

     

    Anna is a very sweet baby who absolutely adores riding cars, as long as they’re not stopped. “She has a little polar bear. It’s like a little stuffed bear with a little pacifier on the end that she loves. She’s got 5 of 6 other ones, but all she wants is that one. She loves to watch cartoons. She is deaf and we have hearing aids for her. Maybe later on in life, she may be a candidate for a cochlear implant. Depending on how her growth goes from here until probably about 2 or 3 years of age… She’s very small for her age. She’s 5 months, but she only weighs 9 pounds (basically a newborn baby’s weight!!). When she was born, she weighed only about 4 pounds 6 ounces.” Anna Violet was not born deaf. She was able to hear when she was born, but lost her hearing quickly after that. “We have to carry emergency cortisol shots. We have to carry, you know, different types of emergency medications. We have to have paperwork copied in my car, her car, at work, at our parents house, and basically anywhere she could possibly be.” This is due to the fact that PBD causes sudden and unpredictable changes. They have to be prepared for any and all situations and have everything they need in hand just in case anything goes wrong. They carry all that information, because if something ever does go wrong, they can just give that information to the EMTs on how to treat her. Anna Violet is not a real big fan of crowds at all. “We think that she may have some sensory issues, but as of right now, cognitively speaking, she’s right where she should be. She does have some liver issues and endocrine issues and things like that, but we are part of a research study for a drug called ColBam (not sure as to how it is spelt).” This drug is the only FDA approved drug that will actually treat Zellweger patients for liver issues and myelin in the brain. “Other than that, she’s just your normal, very tiny, 5 month old baby.”

     

    When asked about the parents’ social life, they told me that it’s hard, because it’s difficult to explain such a rare disease to their friends. It’s not exactly common knowledge, as if it’s like cancer or down syndrome. They get tired of hearing things like, “It must be so hard.” And that’s completely understandable. Like, they understand that it’s hard and they don’t need to hear it over and over again. Their family has been very helpful. They take any chance they can get to pitch in and help with Anna, according to the parents. “When we do go out, it feels like we are packing for a weekend trip, because we have to have lots of things. She has to have her formula and all of that.”

     

    They advise other parents that may have a child with a rare disorder to be patient with your child and with everyone else. “Be prepared to answer the same questions over and over again. My number one piece of advice is that no matter what the disorder is and no matter what the symptoms are, you are your child’s advocate. They can’t speak up for themselves. It’s up to us, to not only bring awareness to our specific set of disorders or you know the rare disorder community in general, but it’s also up to us to be advocates with the hospital, the doctors, with the pharmaceutical company. We’re the ones who have to stand up and say ‘yes.’ You have to be very, very vocal. You can’t be quiet, you can’t be meek. You have to stand up and take the bull by the horns and run with it and your child’s life will be better for it.”

     

    They want you to know that you’re not alone. Your neighbor is not going to have the same experiences as you, but you will never be alone in this world. There will always be someone in this world, you will eventually meet, that will bond with you over your differences.

     

    If you would like to learn more about her disorder, please view the following links below:

     

    https://rarediseases.info.nih.gov/diseases/11890/peroxisome-biogenesis-disorder-zellweger-syndrome-spectrum

     

    https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79189

     

    https://www.simd.org/Links/PBD-FAQ-updated-june-2012.pdf

     

    https://ulf.org/the-zellweger-spectrum-2/

     

    Some parts of the interview were left out, but you can view them on our new YouTube video!

     

    Make sure to follow our Instagram @theraredisorderjournal and make sure to follow Anna Violet on her Instagram @anna_violet_zsd.

     

    - Anisha Yellamraju

     

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