Our First Visit to Primary Children's Medical Center

On Tuesday, January 20th, we met with the Geneticist, Dr. David Viskochil. He spent 2 hours with us. We left feeling very informed and with a game plan in mind. Basically, we are going to watch the tumor for a couple of months to see if it's still growing before we move forward. Another MRI will soon be schedule for her at PCMC (Primary Children's Medical Center) in 2 months. That scan, along with her first MRI at UVRMC, will be sent to the Cancer Institute in Bethesda, Maryland (I think ???) where they are doing a drug study. They will measure the mass seen on both scans and compare the two to determine if the tumor is still growing. (We, personally, think it has grown in the last two months.) If they can see that it is still "on the move", than she will be treated with an oral drug call Rapamycin which will essentially work as a tumor suppressor, shrinking her mass. (Rapamycin has been used with renal patients after transplant, especially when rejection is a concern.) Surgery is not the path of choice at this moment, especially since they are unsure if the tumor is still growing. Going in and taking out a tumor that has not finished growing, may cause many problems - "stirring the pot" can cause growth cells to be sent out sporadically causing a bigger, beefier, heartier tumor in the end. Hence, the MRI to see if it's growing.

Surgery, as an option, is still on the table, however. There may come a time where a huge judgment call will have to be made, especially if the tumor starts encroaching on "unwanted territory" or if it starts causing a lot of pain, discomfort, and immovability. For that reason, Dakota has an appointment of February 3rd at PMCM with Dr. Lor Randall (orthopedic surgeon) and Dr. Faiszi Siddiqi (pronounced Siddiki), a plastic surgeon. Dr. Randall is a surgeon at the Huntsman Cancer Institute, as well as PCMC, and is qualified to work on sarcomas (tumors of the soft tissue) including those of the plexiform type like Dakota's. Dr. Siddiqi would be responsible for closing her back up "all pretty" after the tumor is taken out. We are glad that we could get both their appointments set for the same day, so that we don't have to drive up to Primary Children's separate times.

All in all, Dakota's appointment was good. We learned a lot about this disease, some good and some not so good.

The Good News
The good news is is that if we can get her past 7 years of age without bones broken, scoliosis, bowed legs, and optic gliomas (tumor on optic nerve), she'll be out of the woods with those symptoms, most likely. There are no problems with her bony features. Dr. Viskochil could see that she obviously doesn't have any skeletal dysplasia - 1.) scoliosis, 2.) sphenoid wing displasia - eye socket deformations, skull asymmetry, or 3.) bowing of the long bone in the leg.

She is very outgoing which is atypical of NF kids. Usually they are much more reserved and shy.

So far, she seems to be on task with pre-reading/writing skills. We'll know more about learning disabilities when she goes to school.

Dance class and pre-school will offer opportunities to grow and develop and feel like a normal kid.

Macrocephaly (relatively larger than normal skull size) is present, but it doesn't cause problems. (Her head is bigger round than Brooklyn's!)

The Bad News
Most symptoms have a distinctive age presentation. We'll never be sure when or if she will experience challenges in the following body systems: neurological (seizures, early/late puberty), cardiovascular (hypertension), cutaneous (lumps on skin), subcutaneous tumors (cancer or noncancerous - plexiforms and other types that I don't even want to think about).

She's at a higher risk for sarcomas (cancer) and they are a lot harder to treat than the normal sarcomas that hit older (60 yr. old) patients. These may start growing as early as in her 30's. She has a 10-12% higher chance of getting cancer than normal. To put it in perspective, we all have a 40% chance of getting cancer in our lifetime, anyway. She's just got a 50-52% chance now.

Puberty/pregnancies will most likely exacerbate the issues of NF (more tumors, growths, etc.) She will have to think long and hard about having children of her own, as there is a 50% chance that she will pass it on to her children. (No one knows if NF would hit them more mildly or harder than it hit her).

Cutaneous (on the skin) tumors do grow with this disease, some more severe or multiple than others. Dr. Viskochil did notice two spots on her back that may be the beginnings of these growths.

Cafe au lait spots and freckling will continue to grow bigger and more numerous as she grows.

Facial tumors usually grow closer to adulthood.

Learning disabilities may be present.

She'll never be the fastest, most coordinated child in her class. Gross motor skills may always be a little lacking. With NF kids, often times their "slowness" is viewed as a lack of effort, or laziness. It's not! It's the disease. As long as we parents can accept that and help her to accept that, she'll be fine. (We need to make sure her teachers are aware of it.) And, who knows, maybe this won't ever become an issue. We're hoping for the best.
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Dr. Viskochil examined Dakota just as thoroughly as the time he spent with us. Darin stayed with the doc during that part, and I met with Kim Hart, a Genetics Counselor intern. We went over family tree/family history issues. It was cut short when she learned that Darin was adopted. We know nothing of his genetic history. We talked in depth about pregnancies, illnesses, medications, and other concerns. Dr. Viskochil also told us the risks/statistics involved for our future pregnancies. He assumes that Dakota's gene mutation happened on it's own. She didn't get it from us, so the chances of us having another child with NF is 1 in 6,000 (not very high). I've been told by my doctors that my body can't handle anymore pregnancies after 4 c-sections and a hernia repair gone bad, but it's nice to know the numbers anyway. This was not caused by anything I did wrong. I couldn't have changed the outcome, nor can we do anything to prevent it further. All we can do is accept the challenges as they come, and deal with them with the help of the professional network that is being set up for her.

We feel very blessed to be near such a great facility as Primary Children's Medical Center and their qualified, elect staff. She will be in the best of hands.

Dakota will have her next appointment with Dr. Scott Larsen (ophthalmologist) on Tuesday, Jan. 27th. We are already sure there are no optic gliomas (tumors) as the MRI showed, but we will meet with him anyway. Dr. Viskochil wants the Dr. Larsen to look at our eyes, too, to see if either of us have Lisch Nodules (a type of benign tumor that doesn't affect vision) present on our irises. It will be interesting to see what we find out.