T's NF Journey Blog

Several people suggested I start a blog of T's NF-1 issues and the journey we are on.  So, here we go...

Travis, our 3 year old son, is affected by Neurofibromatosis Type 1 (NF-1).  NF-1 is a genetic condition that occurs in 1 out of 3000 births; 50% of the time it is hereditary and 50% of the time it is a spontaneous mutation/new finding.  There is a wide variability of how NF-1 can affect an individual, some may have the cafe-au-lait spots and freckling, others have major issues.  A thorough description can be found at http://www.ctf.org or http://www.nfnetwork.org .  A brief recap of T's NF journey.

November 2007 - T's 4 month well child check-up - I had noticed two "birthmarks" on the left side of the diaper region on T and asked the pediatrician about these.  He asked if anyone in our family had/has skin issues. I didn't know of anyone at the time.  We talked with Scott's mom and she mentioned that she thought her brother had somthing.  Turns out that Uncle Dick has NF-1 and was diagnosed when he was in his 20s, he is now in his 60s.  *Current thinking is that Travis' NF-1 is a spontaneous mutation since neither Scott nor his mom show signs of NF.

January 2008 - T's 6 month well child check-up - Many more "birthmarks"/cafe-au-lait spots have appeared and Travis now has over 20 spots.

June 2008 - T starts crawling! 

December 2008 - T has his first appointment with a geneticist from The Children's Hospital in Denver that comes up every other month.  She confirms Travis has NF-1, it was a pretty obvious confirmation.

February 2009 - Scott notices that Travis' legs are 2 different lengths, a subtle difference where the left leg is longer.  T's pediatrician takes a look and he makes a call to the geneticist that says these things can happen in patients with NF.  She recommends that we keep an eye on it.

March 2009 - Travis was sick and he went in to see his pediatrician.  While we were there I mentioned to the dr that it is hard to straighten Travis' left leg completely now.  This is a big change from 2 weeks prior when we noticed the leg length discrepancy.  The knee x-ray doesn't show anything significant, so he recommends Travis sees an orthopedic (bone) doc at The Children's Hospital in Denver ASAP.  Luckily we get T an appointment for the next day.  They discover that Travis has a leg length discrepancy of 1.5 cm and that Travis' left femur does not make the bend into the hip socket and hits the hip nearly straight on.  They recommend physical therapy for Travis' knee contracture (not being able to straighten out his knee).  T starts physical therapy with a great PT.

May + August 2009 - T's orthopedic appointments show a slight increase in the leg length discrepancy, but they expect some increase since he's growing.

October 2009 - Travis starts walking!!!!!!!

December 2009 - Orthopedic appointment at The Children's Hospital - T's leg length discrepancy is now ~3.5 cm and surgery(ies) will be highly likely in his future.  The left knee is "knock-kneed", the center of the knee doesn't line up with the line from the center of his hip to the center of his ankle.  They are suggesting a surgery to break then fix the femur when he's 4 or 5 and then a manipulation of the left knee growth plate when he's a little older.
                        -  Geneticist appointment at The Children's Hospital - The geneticist suspects a plexiform neurofibroma on Travis' left thigh (several cafe-au-lait spots merged and that this is visibly larger than the other) and wants an MRI to see if his suspicions are correct.
                        - MRI at The Children's Hospital - The brain MRI comes back normal for a kid with NF-1, great news.  The suspected leg plexiform is confirmed by MRI.  The plexiform extends from the nerve roots a the base of the spine, in/around left hip, left thigh down to the left calf.  Another MRI in 6 months is recommended to see if/how the plexiform has changed and Travis is now eligible for the Multidisciplinary Clinic (geneticist, neurology, neuro-oncology, neuro-psychology, and rehab docs all see him in one morning and can conference).

May 2010 - T's orthopedic appointment shows little change in the leg length discrepancy and will wait for 2nd MRI results to talk about when to do the first surgery and what exactly needs to be done.

July 2010 - T's 2nd MRI and Multidisciplinary Clinic - We got the results of Travis' 2nd MRI at his Multidisciplinary Clinic...the plexiform is stable in some areas and growing in others.  They get a rough, not measured on x-ray, measurement of  ~5cm for his leg length discrepancy.  The neuro-oncologist wants another MRI in 6 months to see what the plexiform has done in 6 more months.  The geneticist and new orthopedist, his former one moved to another facility,  are supposed to meet and discuss T's case since the plexiform surrounds the femur and you don't want to go through/disturb a plexiform...still waiting for them to meet as of late-Sep.

July 2010 - Two days before Travis' Multidisciplinary Clinic, I was able to attend a NF conference where I met a great pediatric geneticist in Salt Lake City.  This was a wonderful 1-day conference with a Q & A session in the afternoon for patients/parents and doctors to speak.  I was able to talk with the SLC geneticist about Travis' case.  He gave his recommendations and said to keep him posted on the results of T's 2nd MRI.

August 2010 - Contact the SLC geneticist about getting a 2nd opinion from the pediatric geneticist I met the month before and orthopedists he recommends.  We submit our paperwork to Shriners in SLC, one of the bone docs is there.

September 2010 - A rehab doctor appointment shows a rough measurement of T's leg length discrepancy of ~5.7cm.  We have a date for the 2nd opinion in SLC...Wed, Oct. 6th. 

That bring us to now, more-or-less.