With strong family and Christian values, the Moccas are an amazing support team for their daughter/sister, Evelyn. Evelyn was diagnosed with a serious genetic disorder in 2007. Since then, the Moccas have spent much of their time working with Cardinal Glennon specialists to help her grow to “be exactly who God created her to be.”
Their unyielding faith in God and a deeper understanding of the world of children’s medicine makes it possible for Evelyn’s mom, Sarah Mocca, to share their story, as well as provide some tips for making the journey a little easier.
We’re the Moccas: Rob, Sarah, Jocelyn (4 ½ as I write this) and Evelyn (affectionately dubbed Evie), who is almost 3. In early March 2007, the week before Evie was born, an ultrasound showed a brain abnormality – her cerebral ventricles were too large. After she was born, head MRIs confirmed the ventricle enlargement, but did not indicate any other malformations or hydrocephalus. We were sent home with instructions to “treat her as a normal baby until she showed other symptoms.”
Try to stay calm, even if things are getting worse before they get better.
As time went on, we started to notice that Evie did have other symptoms. She had a vision problem, (that we later learned was due to muscle malformation), and was unable to hold up her head or lift items (such as supporting her bottle or play with age appropriate toys). It became more and more obvious that she was falling farther and farther behind the other children in her class at daycare – even the younger babies.
When Evelyn developed a growth in her diaper area, Dr. Palagiri of Cardinal Glennon’s Urology department confirmed that there were underlying medical conditions and reasons to be concerned. He recommended a visit to the Neurology department, where we later learned through a series of tests that a segment of chromosome 12 was missing from Evelyn’s genetic makeup.
Be patient while the doctors pin down a diagnosis.
It took almost a year from the time the pre-natal doctors thought there may be a problem to receive a diagnosis. For many families, the search for answers is even longer, and there are thousands of questions in the meantime. Our questions prompted another visit to Cardinal Glennon – this time to familiarize ourselves with the Genetics department.
Don’t be afraid to ask questions.
It often takes time to process what doctors say before you know what questions you want to ask. Many times you’ll feel like you understand while you’re talking with the doctor and then later realize you need clarification or hadn’t considered something before. Keep a written list of questions when this happens. With practice you’ll get better at knowing the kinds of questions you want to ask, but there will always be times when you get caught off guard or just forget something you intended to ask. That is when a written list will keep you sane!
Seek out the right people to help your child reach his or her goals.
Our daughter’s genetic condition is not very common. In fact, we know of fewer than 20 cases in the world, so there is not much information available as to what characteristics are common among people with this condition or what a prognosis may be for the future. Even so, the genetics team at Cardinal Glennon has been able to conduct preemptive testing to identify what medical conditions Evie shares with her peers and which are not relevant to her specific case.
Therapists have become vital in making sure that Evie has the skills she needs to keep up with her peers. They have helped us learn how to break down large tasks into small parts we can practice independently until she has mastered them well enough to string them together. With consistent therapy (three nights a week) Evie was able to learn to sit up by 18 months old, and walk at 2 years 3 months. As she only has a few words and signs, we’re now exploring new ways to help her communicate. We’re confident, though, that once we find the key to unlock her voice she’ll finally be able to express to the world just how brilliant we already know her to be.
Keep medical records organized.
When you count all of the therapists, specialists, family doctors and case managers Evie has had in her short life, you may need to borrow some fingers and toes. Already our count is over 30. That is another reason it’s vital to have all of your medical records in one place. You will not be able to remember all the information that many specialists give you, especially when some of those results have not been discussed in quite some time.
With such an extensive medical chart, we try our best to only take Evie to SSM facilities. We mainly travel to the Cardinal Glennon Medical Center, but it has been very convenient to visit the satellite locations as well. Having everything in one place is not only helpful for the specialists but is also a stress reducer for me and my family. It is comforting to know that the care Evie is receiving is more efficient and more complete.
Try to understand what your child is experiencing.
Evie also has several Sensory Processing Disorders (SPD). What this means is that she responds to outside input (visual, hearing, smell, touch, taste, movement, and muscle pressure) differently than most of us do. She requires a lot of movement, such as swinging, hanging upside down, sliding, and going fast! Working with her therapists has really helped us to develop an action plan about how we can compensate for some of her sensory needs without disrupting her daily activities.
Be aware of health issues your other children may be facing. And don’t be afraid to seek a second, or third, opinion.
Children with special needs do require a lot of time, energy, and focus. But it’s important to remember that your other children might be facing health issues as well. However mild or serious they may be, it is important to be able to recognize them so they can be appropriately treated.
The month before Evie was born Jocelyn developed a massive kidney infection requiring hospitalization for administration of IV antibiotics. The first doctor we visited recommended a surgery, we sought a second opinion. When the second opinion did not agree with the first, we decided a third opinion was in order. That third opinion was the beginning of the Moccas’ relationship with SSM Cardinal Glennon Children’s Medical Center. After nearly a year and several consultations with Pediatric Urologist Dr. Palagiri many necessary tests told us what the best options were. Jocelyn had half of a kidney removed by Pediatric Urologist Dr. Firlit. The procedure went wonderfully. Jocelyn healed quickly and was back to her happy-go-lucky self in no time.
Reconsider the rules, and explain them to each of your children.
One of the things that we were concerned about in the beginning with two young children was how we would handle discipline when one of our children was typical and one was “special.” In our house we balanced this by considering three factors:
1) Was Evie physically able to do what we expected? If not, we couldn’t hold her accountable to the same standard as Jocelyn.
2) Why was something against the rules? If it was dangerous, the rule stands. If it was not dangerous or didn’t stand to break something, we reconsidered why we had the rule.
3) What was the intent of the child? Did they do it on purpose, even when they knew better?
Even after considering all these things, we found that we needed to redirect the kids or take things out of temptations reach far more often than we actually needed to practice discipline. Consistency has been key. We have enabled the kids to comply with the rules and behave well when we are out without spending too much time on trying to keep things “fair.”
Keep each other strong.
Another part of our family dynamics that has evolved over time since getting Evie’s diagnosis is realizing how to play up each parent’s strengths. For example, Rob is fantastic at research. I’m really good at staying cool under pressure. This helps us to cover all our bases, because we can help each other with the areas where we have trouble.
Seek sources of accurate information.
Speaking of research, please take this advice: Do not Google your child’s condition! I know this is impossibly hard not to do, but in most cases we are not educated well enough to know whether something will be pertinent to our specific case or not. While I would not recommend Internet research for your child’s condition, I would advise researching therapy options. Speak to teachers, therapists, and other parents who have been through similar stages with their children before. In Evie’s case, we found an online support group that connected us with medical professionals, parents, and other resources. Find what works for you and your family, but be sure it’s accurate information from a trustworthy source.
Remember that you can learn the most about your child’s condition from him or her.
The rarity of many genetic conditions makes it really difficult for families to get information about what to expect. To some extent, we have found that the only thing that can help a family get over the fear of not knowing what our children will accomplish is watching our children grow into the people they are intended to be. Every day we learn more about our children, whether or not they have special needs. We learn what it takes to calm them when they cry. We learn what things motivate them and what things they are not able to do, even with the proper motivation.
Know the stage of development of other children.
Be aware of what children the same child age as your child are doing. This is not to make you keep score, but to help you identify when you may need to figure out a new plan to help narrow the gap when you notice your child falling behind.
Don’t forget how important you are to your child.
Remember that you are the most important person in the care and development of your child. Take care of yourself, because if you become unable to care for your child, other people will not necessarily make the same decisions you would. You must be available to advocate for your child since they often cannot speak for themselves, and you know them better than anyone else. What may be right for other children may not be right for your child. Trust your instincts on this.