Wednesday, August 10, 2011

S's Story- Proof NF1 is not fun.

In early July S had an MRI scan of her brain performed. She was having headaches and intermittent periods where she seemed confused. In most children this is not one of the first things done, but S is a special case. She has a genetic disorder called neurofibromatosis type 1. I would explain all about NF1, but it would only make a long post longer. For those who want to read more about it, I will include a link..just click on the highlighted word.

A couple of weeks went by. I had tried calling the neurologist office, but no one called me back. I assumed that since I had not heard anything, all was okay. It was not. I got the call saying the doctor wanted me to come in the next day. J was away with his job, so I loaded all 3 kids in the car and went to see the doctor. He told me that he saw a "lump" in her brainstem. If she had NF2, this would be more of a normal finding. Since she has NF1 (yes after 4-5 generations we are sure it is NF1). He said he would put in a consult to a pediatric neurological oncologist. I chose a doctor at St Jude (after a lot of drama I do not feel like going into because it makes me mad whenever I think about it).

We loaded the kids into the car and headed to Memphis. Another MRI and a bunch of other tests were performed on S. All in all it took a little over a week of 4-5 appointments a day.

Here is what we know now. (For those who do not know/are not sure - S is 7 and will be starting 2nd grade on Monday)

1. There is a mass in her brainstem. It is in the brainstem and cervical spine. It is inoperable. It is way too involved with the brainstem and cervical nerves to even think about cutting on it. In fact, it would be hard if not impossible to even safely biopsy it.

2. She has NO gag reflex. She does cover the windpipe at this time, but she has NO gag reflex. The kid could stick something all the way down her throat and never gag. She has no sense of when her mouth is too full and therefore she is at high risk for choking.

3. Her deep tendon reflexes are extremely diminished, and in some areas absent.

4. The mass in her brainstem is probably what is causing the constant nausea, frequent vomiting for apparently no reason, frequent headaches, poor fine motor coordination, poor heartbeat regulation, lack of gag reflex, and extremely diminished deep tendon reflexes.

5. She was sent home at this time, because there have not been enough previous MRIs (even with NF it is hard sometimes to get insurance companies to cover those when kids are asymptomatic)to say that it is for sure cancer, although he cannot rule it out either. This means she will be getting MRIs every 3 months for the foreseeable future.

6. This is what I understand, I may be wrong: Because of the NF1, radiation is a last option only. In people without NF, radiation can be used to shrink masses, but if someone has NF radiation imposes other risks. People with NF are much more likely to get cancer than other people (and radiation can also cause cancer in addition to help cure it) and people with NF are more susceptible to the harsh side effects of radiation (especially in the growing brain of a child). She will also be more likely to suffer from the harsh side effects of chemo. It is for these reasons, they need to be SURE what we are dealing with in order to not make a bad situation worse.

7. Her heart rates are way up and she has had periods of hypertension (which I wonder if that is related as well). She is no longer on a stimulant medication for her ADHD, but this is still occurring. She is scheduled for an EKG and Echo on 8/23 here in Knoxville. She had one last year and it was noted that she did have some tachycardia and an abnormal rhythm. She also has a quadracuspicd aortic valve (this means her aortic valve has 3 leaflets rather than the 3 it is supposed to have). However, sometime in utero two of the leaflets fused so she functions as if she had a tricuspid (3 leaflet) valve. This was a good thing, because she would have had a lot of problems had this not happened. This is a VERY rare condition. I do not think the tachycardia and hypertension are related to it, but I worry how they will affect it.

8. We are going to treat the symptoms for now. This means the poor kid may be keeping the pharmaceutical companies in business for awhile!

9. We have to watch her closely. This means, making sure her breathing is normal, watching her heart rate and trying to keep her calm, cutting up her food like you would that of a toddler, and in general just watching her for any changes. This includes her handwriting as it can be affected.

10. We are going back to St Jude in early Nov for another MRI.

11. So basically, they DO NOT KNOW what it is exactly. It is a wait and see game. Anyone who knows me knows I am a control person and I do not like wait and see, but this is out of my hands for the most part. I just have to trust that God is guiding the doctors to do what is best for my precious little girl.

The docs at St Jude are all meeting today and they go over all the data collected on the patients. They talk about it with other experts (including neurologists and neurosurgeons) as well. They said they will call me tomorrow and let me know the findings.

St Jude is a wonderful place. They are so great with the kids. I could not imagine a better place for her to be getting this care.

I will post more updates as they come. Right now she is anxious, but happy. Just please pray for her, us, and the doctors involved in her care.


  1. WOW. What an amazing momma you must be...God bless you through all of this!

    We have had life threatening situations with both kids...but both treatable with meds. Meghan actually had SVT-tachycardia. When we found out she was in cardiac arrest and 17 days old. Evan had a 3 hour seizure a few days before his 1st birthday. No apparent brain damage though.

    I look forward to hearing more about your situations and how you come through it all-because you will.

  2. Dana, I had no idea EVERYTHING S is going through. How scary! Please know that you all have been in our prayers and will remain so!