MRI

Rylie had her first MRI on February 20, 2014. Talk about a long day! Rylie’s MRI was scheduled for 11am which meant NO food or drink after 5am, which for those of you that know Rylie know that was going to be a challenge. She may be tiny but this little girl LOVES to eat! She usually wakes up by about 7am and after a few snuggles she is ready for some juice, a snack, and cartoons. Because she had to fast before the MRI we literally did whatever we could to keep her occupied until 10am when we needed to leave for Primary Children’s. Cue the impromptu dress-up party she had in her bedroom…

We got all checked in to Primary Children’s Hospital just before 11am. We filled out some standard hospital paperwork, waited a few minutes, and then we were on our way back to the MRI. Because of Rylie’s age she needed to be sedated for the duration of the MRI. As they prepped her for her IV things got a little feisty. Rylie has never had an IV so you can imagine how that went… good thing we had daddy with us because mommy is NO GOOD when it comes to needles… add in my screaming baby and I am just a complete mess! We were up next for the MRI but emergencies happen when you are at a hospital so they didn’t end up taking Rylie back for her scan until about 1pm. A long wait indeed but our first experience with the IV was exhausting and she napped right up until it was time for her to head back from her MRI.

The MRI lasted about 1 hour and then the fun began. Daddy and I took a short break to get a little something to eat and drink and when we got back to recovery we were met with a VERY cranky baby. You would have thought we were dealing with a 250 pound grown man… that little girl can really put up a fight when she wants to! She was determined to rip out her IV with her teeth and whoever tried to stop her was subject to those sharp little baby teeth. We had ourselves about a one hour struggle trying to get her to calm down and sleep off the rest of the sedatives but it was becoming more and more apparent that was only making her more angry. The nurses up at Primary Children’s are amazing and once they were confident Rylie was calmed down enough to travel home they let us pack up and take her home around 4pm to rest in the comforts of her own home. We spent the rest of the evening cuddled up in bed watching TV and praying for good news.

By the next afternoon we received a call from the doctor’s confirming our worst fears… The MRI confirmed that Rylie had an Optic Nerve Glioma and we needed to get her into see an oncologist sooner rather than later. Rylie’s ophthalmologist faxed over a referral to Primary Children’s oncology department and told us to expect a call from them within the next few hours.  

As we sit here waiting for Rylie’s appointment with oncology (currently schedule for Mon. Mar.3) every emotion has come and gone. We have shed tears of worry, stressed about finances, and have been angry that this is happening to our little girl. And while it sucks it is reassuring to know that amazing doctors surround us with incredible experience in dealing with NF and all of its complications. All of Rylie’s doctors have experience dealing with NF and while they have been very direct in what we need to do they are also incredibly kind and compassionate… they are always willing to sit with us and answer all our questions. Its that dedication that we know will get us thru this next year, Many questions remain but one thing is for sure… with this amazing team of doctor’s Rylie is sure to some out stronger than ever!

What is Neurofibromatosis?

Neurofibromatosis is a set of distinct genetic disorders that cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. Neurofibromatosis causes tumors to grow anywhere on or in the body. Neurofibromatosis (NF) has been classified into three distinct types: NF1, NF2 and Schwannomatosis. Rylie has been diagnosed with NF1.

Neurofibromatosis 1 (NF1), which is what Rylie has been diagnosed with, is also known as von Recklinghausen NF or Peripheral NF. NF1 occurs in only 1 of every 3,000 births. Multiple cafe-au-lait spots and neurofibromas on or under the skin characterize NF1. NF1 and NF2 are called autosomal dominant genetic disorders. Half of all cases are inherited from a parent who has NF1 or NF2, the other half of all cases are not inherited but the result of a new or spontaneous mutation (change) in the sperm or egg cell. Rylie’s case has been confirmed as a spontaneous mutation. Each child of a parent with NF1 or NF2 has a 50% chance of inheriting the gene and developing NF1 or NF2. The type of NF inherited by the child is always the same as that of the affected parent. However, the severity and the kind of manifestations may differ from person to person within a family. 
When a parent has NF1 or NF2, there is a 50% chance with each pregnancy for the child to receive the NF1 or NF2 gene, and a 50% chance for the child to receive two unaffected genes and to be free of NF1 or NF2. The child with NF1 or NF2, as a result of a new mutation, does have the 50-50 chance of passing the NF1 or NF2 gene on to his or her children. 

Unaffected parents who have a child born with NF1 or NF2 because of a spontaneous mutation do not have a 50-50 risk in future pregnancies. Their chance for another child with NF1 is about the same as that of any couple in the general population, that is, one chance in 7,000. Thus, a total of 2 children in 7,000 or 1 in 3,500 are born with NF1.

NF is an extremely variable disorder. The severity of NF ranges from extremely mild cases in which the only signs of the disorder in adulthood may be multiple café-au-lait spots and a few dermal neurofibromas, to more severe cases in which one or more serious complications may develop. There is no way to predict who will have a mild case and who will develop serious complications. The majority of people with NF (probably 60%) have mild forms of the disorder. Another 20% have correctable problems and another 20% have serious and persistent problems. Many of the serious problems in NF are evident at birth or develop prior to adolescence. These may include congenital defects of the bone, scoliosis, optic glioma and neurological impairment leading to learning disability or mental retardation. People with NF who have reached adulthood without having these problems are unlikely to develop them.

To learn more about NF visit the Children’s Tumor Foundation’s website at www.ctf.org. 

Rylie Markay- Our Little LadyBug

Several people have suggested that we start a blog of Rylie’s NF Journey so here we go…

As some of you may already know when Rylie was about 2 months old she was referred to a specialist at Primary Children’s Hospital. After several months of anxiously waiting we were able to were able to meet with a team of geneticists and at 6 months old Rylie was officially diagnosed with Neurofibromatosis- Type 1 (NF-1). NF1 is a genetic disorder that causes tumors to grow along various types of nerves throughout the body. The last few months have been spent going to and from routine check-ups, meetings with teams of specialists, and a few appointments in between to help monitor Rylie’s health.

That brings us to now… On February 12, 2014 our lives were forever changed. After a routine eye exam with Rylie’s ophthalmologist we were told there was something of concern on Rylie’s left optic nerve. We were stunned. Although we have know for months this was always a possibility we were hopeful that Rylie would beat the odds and continue to thrive and grow with little to no concerns. While knowing this was a possibility nothing prepares you to hear someone say to you “We believe your daughter has a tumor growing on her optic nerve.” As we sat in the doctor’s office, tears streaming down our faces we began to listen to the doctor’s instructions on how to proceed. Our “routine” appointment suddenly was anything but routine! We were ushered into a few more diagnostic exams and scheduled for an MRI the following week. As the week went on we just hoped and prayed this was all just one big gigantic mistake!

On February 20, 2014 we headed back up to Primary Children’s Hospital for Rylie’s MRI. She was a trooper. Our little ladybug was poked, and poked, and poked some more. All of the while she continued to make us laugh and smile. After a long couple of hours at the hospital we were released and sent home so Rylie could sleep off the rest of the sedatives. It was one of the most restless nights we have ever experienced as parents. The following day we were given the news no parent ever wants to hear---- Rylie was diagnosed with an Optic Nerve Glioma, a tumor in her left optic nerve.

Rylie will beat this! We caught the tumor and her prognosis looks good. While she may have a long road ahead of her we are blessed and hopeful that a good outcome will come from a heart-breaking situation.

We have started this blog not for sympathy but in hopes that along with keeping our families and friends updated on Rylie’s journey that we will also be able to gather more support for families who too are battling to find a cure for NF. We have an amazing support system and we want other families to feel that same love and support. So many people have reached out to us and offered us help, support, and just a shoulder to cry on. We are so lucky- here in Utah we are surrounded with the best medical facilities and even better doctors. NF treatments are expensive and having these options so close to home is nothing short of a blessing. The Children’s Tumor Foundation is working hard to find a cure for NF through by fundraising for research; we are excited to join them in the fight. We hope that as you follow Rylie’s journey you will ne inspired to help to as well