Running Update:
4/27/2016
|
5.0
mi
|
48:07
|
4/29/2016
|
5.0
mi
|
48:31
|
5/1/2016
|
7.6
mi
|
1:16:05
|
5/4/2016
|
5.0
mi
|
47:35
|
5/6/2016
|
3.1
mi
|
29:59
|
5/8/2016
|
9.1
mi
|
1:33:43
|
5/11/2016
|
5.0
mi
|
49:28
|
5/13/2016
|
3.2
mi
|
32:07
|
5/15/2016
|
13.1
mi
|
2:12:21
|
I
cut back on mileage quite a bit since the marathon in order to let my injured knee
recover a bit, but I’m ramping up again.
We had perfect weather for a nice, long run here in CT today—sunny,
breezy, mid-50s—so I tried to make the most of it.
NF Update:
As
we are already half-way through May—NF Awareness Month—I thought I would share
with you the NF facts I have been posting daily on Facebook.
1.
May is NF Awareness Month.
2.
1 in 3000 people is affected by
Neurofibromatosis type 1, 1 in 25,000 is affected by NF type 2, and about 1 in
40,000 is affected by schwannomatosis.
3.
Neurofibromatosis encompasses a set of distinct
genetic disorders that causes tumors to grow along various types of nerves.
4.
NF can also affect the development of
non-nervous tissues such as bones and skin. Neurofibromatosis causes tumors to
grow anywhere on or in the body.
5.
The severity and physical signs of NF1 can
vary widely from patient to patient. People who have NF1 may have very few
neurofibromas (tumors) or they may have thousands of them throughout their
body.
6.
NF1 and NF2 are called autosomal dominant
genetic disorders. Half of all cases are inherited from a parent who has NF1 or
NF2; half of all cases are not inherited but the result of a new or spontaneous
mutation.
7.
Each child of an affected parent has a 50%
chance of inheriting the gene and developing NF. The type of NF inherited by
the child is always the same as that of the affected parent, although the
severity of the manifestations may differ from person to person within a
family.
8.
Although most cases of NF1 are mild to
moderate, NF1 can lead to disfigurement; blindness; skeletal abnormalities;
dermal, brain, and spinal tumors; loss of limbs; malignancies; and learning
disabilities.
9.
NF1 also has a connection to developmental
problems, especially learning disabilities, which are five times more common in
the NF1 population than in the general population.
10.
NF1 can result in disfigurement in a number of
ways. Skin neurofibromas may develop on the face or on exposed areas of the
arms or legs. The larger and deeper plexiform neurofibromas may grow around the
eye or eyelid, or affect growth of one side of the face. Scoliosis, or
curvature of the spine, can affect appearance when it is severe. Rarely, an
overgrowth of skin or bone causes enlargement of an arm or leg.
11.
Some people with NF suffer from a bony defect
called tibial dysplasia, in which the leg bones are curved.
12.
Another complication of NF is pseudarthrosis,
in which a bone breaks, typically a long bone such as the femur, and does not
fully heal, causing a "false joint".
13.
People with NF are at increased risk of high
blood pressure and renal artery stenosis.
14.
NF can also affect the cardiovascular system
causing congenital heart defects. The most common heart defects seen in NF are
those affecting the heart valves, particularly the pulmonary valve.
15.
Café-au-lait spots, the most common sign of
NF, are the flat, pigmented spots on the skin, which are called by the French
term for coffee (café) with milk (lait) because of their light tan color. In
darker-skinned people, café-au-lait spots appear darker in color than
surrounding skin. People with NF almost always have six or more café-au-lait
spots.
16.
There are three forms of neurofibromatosis:
NF1, NF2, and schwannomatosis, each cause tumors to grow on nerve endings
in or on the body.
17.
May 17 is NF1 Awareness Day.
18.
5% of NF1 patients have a bone-related issue
called sphenoid wing dysplasia, in which the skull and eye orbit bony areas
erode away, causing possible craniofacial abnormalities, loss of the eye, and
enlargement of the eye orbit cavity.
19.
About 10% of people with NF will develop
scoliosis, or a lateral curvature of the spine. In most cases it is mild, but
more severe cases may require surgery.
20.
Approximately 15% of patients with NF will
develop an optic glioma with the peak age of onset between ages 3-4 years old.
An optic glioma is a tumor of the optic nerve in the brain which controls the
vision
21.
Many people with NF1 suffer from frequent
headaches, particularly migraine headaches.
22.
May 22 is NF2 Awareness Day.
23.
The distinguishing feature of NF2 is tumors
that grow on the eighth cranial nerve in both ears, commonly causing deafness
and severe balance problems.
24.
NF2 brings on increased risk of other types of
nervous system tumors as well.
25.
NF2 can also cause severe vision problems,
including cataracts, retinal abnormalities and orbital tumors.
26.
NF is not the "Elephant Man's
Disease," although it was at one time believed to be. Scientists now
believe that Joseph Merrick, the so-called "Elephant Man," had
Proteus Syndrome, an entirely different disorder.
27.
The tumors in NF are usually noncancerous
(benign), but in some cases these tumors become cancerous (malignant) tumors.
28.
NF related malignancy is estimated to occur in
7-12% of affected individuals. People with NF are at increased risk for MPNST
(malignant peripheral nerve sheath tumor), brain tumors, and leukemia, as well
as several other forms of cancer.
29.
NF can cause itching of the skin.
30.
NF is worldwide in distribution, affects both
sexes equally and has no particular racial, geographic or ethnic distribution.
Therefore, NF can appear in any family.
31.
The Neurofibromatoses are
genetically-determined disorders which affect more than 2 million people
worldwide; this makes NF more prevalent than cystic fibrosis, Duchenne muscular
dystrophy, and Huntington's Disease combined.
Jane Update:
Jane
and I return to NIH next week for a re-staging visit—a visit where her tumor is
re-evaluated and re-categorized as to whether it is still responding, stable,
or growing. We arrive on a Sunday
afternoon. Here is our itinerary for
Monday:
8:00am—Physical
exam, Pediatric clinic, 1st Floor
8:30am—Labs,
Pediatric clinic, 1st Floor
8:45am—Unsedated
MRI (Face, sinus, ENT), Radiology 1st floor
10:00am—Eye
clinic, Outpatient clinic, 10th Floor
Lunch
Break
12:00am—EKG,
Radiology, 1st Floor (or anytime during free time)
12:30pm—Photography,
Room 1N230, 1st floor
1:00pm—Echo,
5NE, 5th Floor
2:00pm—Check
in, Pediatric clinic
2:30pm—Family
meeting, Pediatric clinic
It
might be a tight schedule, but we’ve done it so many times now that we nearly
have it down pat. As always, we’re
hoping for a good report from the MRI.
Some
recent good news: Jane’s study
medication, AZD6244, or selumetinib, was given “orphan” status in the US. Orphan status is awarded to medicines
promising significant benefit in treating rare, life-threatening diseases and
the designation provides companies with special development and market
exclusivity incentives. If selumetinib
has orphan drug status, that means its manufacturer, Astra-Zeneca, has more
incentive to keep producing it. That in
turn would benefit Jane and other children with NF with Jane’s type of
tumor (plexiform neurofibroma). Here is a link to the article in the NY Times.
Alec Update:
Here's more
evidence that I do have other children besides Jane!
Alec had his 6th grade orchestra concert last week, and it was wonderful. They played quite a range of music, from a
baroque gavotte to the classical Ode to Joy, from the theme from Jurassic Park by
John Williams to the pop song Uptown Funk! (The cellos got to spin their instruments at one point during the latter.) Alec plays the cello, but he also filled in
for the string bass during one piece! I
was so proud.
Alec on the string bass |
This was the first time Alec's orchestra teacher required that the boys wear ties to a concert, and I couldn't help but document how handsome Alec looked dressed up!
Then Jane got in on the photo shoot <3
No comments:
Post a Comment