NF Awareness: Meet Travis

This is Travis. Travis is yet another NF warrior. He is 6.

From Travis' Mom:  "He has a plexiform neurofibroma that extends over 50% of his body length (from the nerve roots at the base of his spine, in/around his left hip, surrounding his left thigh, and down to the bottom of his left tibia). He is a resilient kid that brings a smile wherever he goes. His older brothers are avid hockey players and love most any sport."

You can follow Travis' Journey through his blog.

*Permission to share his story given by his mom, Kelly*

NF Awareness: Meet Brian!

Hey there. Here's another little NF warrior I'd like you to meet. His name is Brian!

From Brian's Mom: Back in 2011 we went for a normal routine check up with his pediatrician. She noticed that he had a bunch of CAL spots all over his body & proceeded to tell me that she thinks that he has Neurofibromatosis. She only knew of this because she had 3 other patients with this. She suggested that we see a neurologist at The Cleveland Clinic. From that point on we went on to see a ophthalmologist & genetics. After we saw our doctor in genetics it was clear that Brian had a spontaneous mutation of mosaic NF1 along with other deletions around the NF1 gene in which we are going on the 6th to talk to genetics about. Even though his NF isn't severe like others he does have some speech problems that he has seen a speech therapist for at his preschool. Going into KG is going to make me nervous knowing that learning can be a challenge at times, but I do believe he will do GREAT!!! Brian is a VERY outgoing 5 year old boy that is also very inquisitive. He loves to help as well as working out with mom & dad. He loves playing outside & bothering his sister. He has a big heart and he's very loving. NF doesn't define him or our family. It's a challenge that we face on a day to day basis, but it won't hold any of us back."

*Brian's story posted with permission of his mother, Amanda*

NF Awareness Month: Meet Kyle!

Kyle is 5, but was diagnosed at 6 months old with NF1. He has a number of CAL spots, but they are all hidden by his clothes. He also has a few fibromas on his right foot, but they don't bother him at all, so they are just monitored to make sure they don't get any bigger or cause him pain. Kyle's right leg is bowed, and was at birth, so when he turned 1, he started wearing a clam-shell brace to protect his leg from breaking or fractures. The brace has become like a part of him, and he runs & plays with it with no problems. Kyle was also diagnosed with scoliosis about a year and a half ago. He wears a back brace to try and correct it, and also to keep it from getting worse. So far, the brace has helped him tremendously. Kyle has no known tumors, but he is monitored with yearly MRI's to make sure and to maintain. He doesn't have many of the physical characteristics of NF, but what Kyle does have are a lot of developmental delays. He has speech delays, social skills delays, and fine motor & gross motor delays. To help him with these, he receives speech, OT, & PT both through school and also through private therapists at Akron Children's & Salem Pediatric Speech Therapy. He has come a long way, but still has a bit to go to catch up to his peers. Overall, Kyle is a very happy, loving, and active boy who loves to swim, play with his cars and trucks, read, and watch his favorite show Mythbusters. NF doesn't define him at all; it's just what he has, not who he is.

*permission to share Kyle's story given by his mom, Jenn*

May is NF (neurofibromatosis) Awareness Month

May is the recognized month for neurofibromatosis awareness. So just what -is- NF? Well?

Neurofibromatosis (NF) is a genetic disorder of the nervous system which causes tumors to form on the nerves anywhere in the body at any time. This progressive disorder affects all races, all ethnic groups and both sexes equally. NF is one of the most common genetic disorders in the United States (one in every 2,500 to 3,000 births).

NF has three genetically distinct forms: NF-1, NF-2 and Schwannomatosis. They are caused by different genes and chromosomes. The effects of NF are unpredictable and have varying manifestations and degrees of severity. There is no known cure for any form of NF, although the genes for both NF-1 and NF-2 have been identified. 

NF is an autosomal dominant genetic condition; it is not contagious. Approximately 50% of those affected with Neurofibromatosis have a prior family history of NF. The other 50% of cases are the result of spontaneous genetic mutation. If an individual does not have NF, s/he can not pass it on to his/her children. (Source)

Our son, Alvin, was diagnosed with NF1 on February 9, 2011. Though, we had suspected he'd had it since a few week after his birth. Alvin's NF has caused speech delays, learning delays, gross and fine motor delays, growth delays, macrocephaly, and a host of other issues. (He's also diagnosed with childhood apraxia of speech, obsessive compulsive disorder, sensory processing disorder, autism, and has a retained atypical tonic neck reflex.) In 2010, it was discovered that he had 3 small gliomas (tumors) in his brain. They are monitored with MRIs for growth. So far, we've been lucky and they have not grown. There were officially attributed to NF after his official diagnosis. In 2012, Alvin was further diagnosed with a phenotype of NF called neurofibromatosis-noonan's (NF-NS). It means diagnostically he meets the criteria for both NF and NS, however he does not have heart involvement like a true case of NS. NF-NS is thought to be 1:50,000 cases of NF.

To learn more about NF, please visit:

NF, Inc
Children's Tumor Foundation

And follow along with Alvin's Allies (our NF team) to watch his story develop. :)

Great Steps Walk for NF

I know I haven't been much into blogging this past year. I am sorry for that. Things will pick up again in May. Why? May is NF awareness month!!

So, time for some shameless plugging for my fundraiser for the NF walk we're doing THIS Saturday! (April 19th).  Anything you can donate is amazing. If you can't donate, can you share the link? All funds go DIRECTLY to NF, Inc, a registered non-profit.

Click Here to go to Alvin's Allies fundraiser page!

NFCA Walk in the Wild 2013

Today was the 19th Annual Walk in the Wild for NF at the Pittsburgh Zoo. This was our second year doing this walk. Last year it was rainy and miserable. This year it was GORGEOUS weather for it. We also had custom team shirts printed this year.

Great Steps for NF walk

Today was the Great Steps for NF walk. It was the First Annual walk for this area. (There is a bigger walk in Pittsburgh. This one is MUCH closer and supports NF, Inc.). One of my FB friends was the head volunteer! While it was a small walk, it was still a great walk! Sadly, it was COLD! It actually was snowing while we were walking. Funny, because it was 84 two days ago. Oh well, such is the weather in April in Ohio.

31 Days of Awareness: NF Awareness

Neurofibromatosis

Awareness Color: Blue or green (opinions vary.)

Awareness Month: May

Awareness Day: May 17th

Neurofibromatosis (NF) is a genetic disorder of the nervous system which causes tumors to form on the nerves anywhere in the body at any time. This progressive disorder affects all races, all ethnic groups and both sexes equally. NF is one of the most common genetic disorders in the United States (one in every 2,500 to 3,000 births).  The neurofibromatoses affects more than 100,000 Americans; this makes NF more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington’s Disease and Tay Sachs combined.

Dawson

A few months ago, I introduced you to a boy named Dawson who has NF1 and a level 4 Glioblastma Multiforme (GBM). He was diagnosed in December 2011. Prognosis was 5 years max. Sadly, he's been given only weeks left. Updates on him are being given every day for the final legs of his journey. Please, feel free to join this group on Facebook and let Dawson know just how far reaching his story really is. Let 13 year old Dawson know that there are people out there who will continue the fight to find a cure for NF. Dawson, you are NOT alone.

Dawson's Bucket List 

Back to the drawing board, sort of

Today was the much-awaited appointment with Dr. Cohen at Akron Children's. I had been looking forward while simultaneously dreading this appointment. See, I had been told by several people that Dr. Cohen has a horrid bedside manner. However, if he does, I didn't see it. The appointment started like most appointments with a new doctor do: going over Alvin's medical history. The more we talked about, the more the doctor's eye lit up. Apparently, most of what's going on with Alvin has NOTHING to do with NF.

So what does it have to do with? Well, that's the million dollar question right there. It could be several things. It could be something called neurofibromatosis-noonan phenotype. That's when a person has characteristics of both NF and Noonan's. However, doc said there were too many things going on to just be NFNS, but he wasn't ruling it out just yet. Part of Alvin's issues could be from a tethered spine. Might be mitochondrial. Might be an not-discovered-as-of-yet gene mutation/deletion. Could be neurofibromatosis type I microdeletion syndrome. Could be a lot of things.

Which means, a lot of tests in the future. Today blood was drawn for the standard CBC, chem panel, lead, and something else. Urine was collected for an amino acid panel. A lumbar MRI was ordered to check for tumors on the spine and for tethered spine. Once those are over and we get the results, we'll go from there. He doesn't want to test for mito right now, as it's a highly invasive painful test.

The one thing the doc said he really really wants to have happen in the next year is to have Alvin's entire genome profiled. That's a $5k test NOT covered by insurance. Eep! Doc is going to apply for some grants, etc, but some, if not all, of that costs will have to come from us. He really and truly thinks that there's something hinky going on with Alvin and that's our best bet to figuring it out. So, that's going to be interesting.  I'm kind of hoping that we figure it out prior, but I'm more than willing to try to get the funds to get the genome sequencing done. 'Cause really, once that's done, we'll know exactly what's going on in each and every part of his DNA.

So to recap, MRI in a few weeks. Blood/Urine tests done today. Results on both will be in by mid-September. If those are negative, we go from there.

Also, he's sending Alvin to be examined by a neuro-psychologist. No clue when that's going to happen. Still waiting on them to call me back to schedule an appointment.

Genetic Test Results

So..I just got off the phone with the geneticist at Boston Childrens. It's affirmative. Alvin DOES have Neurofibromatosis Type I. *big sigh of relief*

Ya'll it's been 2 1/2 years of ups and downs. We think this and we think that. Now we KNOW! There can be no supposition. (No more anonymous assholes being jackasses cause they're bored.) We still have to wait until Alvin hits puberty to find out how bad this NF is going to get, but now we know what to look out for. Now getting him the scans/test etc every year wont be a fight. Why? Because he has a medical condition that requires them.

So what happens now? Well, not much different than what has been really. Once the pedi here on base gets the paperwork from Boston, we'll enroll Alvin in the EFM program. I have no clue what catergory he's going to be labeled and no clue how the EFM program works, but I'll soon find out! I'll post the doctor's notes/more information once we get it in the mail. I just couldnt wait to let everyone know!

Genetic Test Results

So..I just got off the phone with the geneticist at Boston Childrens. It's affirmative. Alvin DOES have Neurofibromatosis Type I. *big sigh of relief*

Ya'll it's been 2 1/2 years of ups and downs. We think this and we think that. Now we KNOW! There can be no supposition. (No more anonymous assholes being jackasses cause they're bored.) We still have to wait until Alvin hits puberty to find out how bad this NF is going to get, but now we know what to look out for. Now getting him the scans/test etc every year wont be a fight. Why? Because he has a medical condition that requires them.

So what happens now? Well, not much different than what has been really. Once the pedi here on base gets the paperwork from Boston, we'll enroll Alvin in the EFM program. I have no clue what catergory he's going to be labeled and no clue how the EFM program works, but I'll soon find out! I'll post the doctor's notes/more information once we get it in the mail. I just couldnt wait to let everyone know!

Boston Children's NF clinic visit

So yesterday we went to the NF clinic inside the genetics department at Boston Children's Hospital. Not quite as informative as we thought it was going to be, but really, there wasnt much more they could tell us. They 'highly believe' that Alvin has NF1, but he doesnt meet diagnostic criteria (yet). No surprise there, most of the diagnostic criteria for NF dont show up until adolesence or older. So, because Tricare and Navy are on our butts for a FIRM diagnosis, the NF clinic is going to send out for the genetic test for NF. However, a negative on that test doesnt mean he doesnt have NF. In that case, we'd re-evaluate once he'd have a second diagnostic criteria. The doctor is pretty sure that the test is going to come back positive though. Regardless of the outcome, we are to treat Alvin as if he DOES have NF1. Basically, as far as they are concerned, he does. Like the neuro in Akron, the doctor here has said that Alvin meets all the non-diagnostic criteria of NF. He has a big head, small body. He is learning disabled. He has spots on his brain. He has more than 6 6mm cafe-au-lait spots. Unfortunately, only ONE of those is a diagnostic criteria. He is showing signs of having a second sign: speckling in the folds of the skin. In Akron months ago, he had none. Now he has a few. The doctor said that most NF kids develop the 'speckling' sometime between 3 and 6 years of age, so him starting to have some isnt surprising. If he develops MORE of the speckling, then they could diagnose him based on that and the amount of spots he has.

Basically, we wait. Wait on the gene testing to come back in 2 months. I'm sick of waiting. I really am, but this will hopefully give us a solid answer. Normally they dont go to gene testing this early in NF. They prefer to wait to see if a second sign shows up. Being in the Navy though, we need an answer. The Navy wants Alvin in the EFM program if he has NF.

Anyway, some good news. Alvin is officially 35 inches talls and weighs in at an astounding 27 lbs! Woo hoo!

Boston Children's NF clinic visit

So yesterday we went to the NF clinic inside the genetics department at Boston Children's Hospital. Not quite as informative as we thought it was going to be, but really, there wasnt much more they could tell us. They 'highly believe' that Alvin has NF1, but he doesnt meet diagnostic criteria (yet). No surprise there, most of the diagnostic criteria for NF dont show up until adolesence or older. So, because Tricare and Navy are on our butts for a FIRM diagnosis, the NF clinic is going to send out for the genetic test for NF. However, a negative on that test doesnt mean he doesnt have NF. In that case, we'd re-evaluate once he'd have a second diagnostic criteria. The doctor is pretty sure that the test is going to come back positive though. Regardless of the outcome, we are to treat Alvin as if he DOES have NF1. Basically, as far as they are concerned, he does. Like the neuro in Akron, the doctor here has said that Alvin meets all the non-diagnostic criteria of NF. He has a big head, small body. He is learning disabled. He has spots on his brain. He has more than 6 6mm cafe-au-lait spots. Unfortunately, only ONE of those is a diagnostic criteria. He is showing signs of having a second sign: speckling in the folds of the skin. In Akron months ago, he had none. Now he has a few. The doctor said that most NF kids develop the 'speckling' sometime between 3 and 6 years of age, so him starting to have some isnt surprising. If he develops MORE of the speckling, then they could diagnose him based on that and the amount of spots he has.

Basically, we wait. Wait on the gene testing to come back in 2 months. I'm sick of waiting. I really am, but this will hopefully give us a solid answer. Normally they dont go to gene testing this early in NF. They prefer to wait to see if a second sign shows up. Being in the Navy though, we need an answer. The Navy wants Alvin in the EFM program if he has NF.

Anyway, some good news. Alvin is officially 35 inches talls and weighs in at an astounding 27 lbs! Woo hoo!

Yes, I know it's been a while.

Due to a very rude person, I stopped posting on here. She will one day get what is coming to her and I hope I'm there to laugh in her face.


Anyway, I just dont have it in me to catch up on everything that's been going on since the last post. I just want to hit on the major development. Alvin had an MRI of his brain and orbits. The results came back with a few gliomas (tumors) and hundreds of UBOs (unidentified bright objects) all over his brain. According to the neurologist, "His brain lit up like a Christmas tree." Because there was cerebelluar involvement, she is concerned. Normally they dont see these UBOs in the cerebellum. His entire speech development center is also involved. Both with the UBOs and with small gliomas. She has pretty much said we'll be lucky to get a few more words out of him, but he most likely is never going to talk. He may surprise us, but it's not looking hopeful.

They are going ahead with the 'idea' of it being neurofibromatosis, but he has to have a few more things in order to be clinically diagnosed with it at this early age. Ya'll, that's NOT a good thing. According to my NF mentor, being diagnosed under the age of puberty normally means they have a more severe case of NF.

Just as a background, the most common effects of NF1 are:
Visual impairment/blindness
Optic gliomas
Lisch nodules on the retina
*Seizures
Headaches
*Brain tumors
Blood vessel defects
Learning disabilities
Mental retardation
*Macrocephaly (oversize head)
*Speech imparments
High blood pressure
*Cafe au lait spots
Fibromas
Scoliosis
Early or delayed puberty
*Digestive tract issues: pain, vomiting, chronic constipation or diahrea
*Delay in learning to walk or talk
*Short stature
Severe itching
Cancer
Pseduoarthrosis (false joints)
Bone deformities of the legs

Those effects marked with an * denote issues Alvin currently has. So you see, we're dealing with something that could potentially have a severe impact on Alvin's life. No, he hasnt been clinically diagnosed with it. He's not old enough and we havent been to the optometrist to see about the lisch nodules. If Alvin does have lisch nodules, then he'll meet the clinical definition for a child under puberty. Problem being, the nodules dont normally show up until after the age of 4. So, the neuro is saying to treat him like he does have NF1, because of all the markers so far, and if need be, wait til he's older to get the clinical diagnosis.

Ya'll I'm scared. I'm upset. We go back on Monday to the neuro to talk more about these gliomas and UBO's and to talk more about how to help with Alvin's other issues.


PS, to the bitch: Cant fake MRI results bitch. Get a clue before you spout your mouth off.

Yes, I know it's been a while.

Due to a very rude person, I stopped posting on here. She will one day get what is coming to her and I hope I'm there to laugh in her face.


Anyway, I just dont have it in me to catch up on everything that's been going on since the last post. I just want to hit on the major development. Alvin had an MRI of his brain and orbits. The results came back with a few gliomas (tumors) and hundreds of UBOs (unidentified bright objects) all over his brain. According to the neurologist, "His brain lit up like a Christmas tree." Because there was cerebelluar involvement, she is concerned. Normally they dont see these UBOs in the cerebellum. His entire speech development center is also involved. Both with the UBOs and with small gliomas. She has pretty much said we'll be lucky to get a few more words out of him, but he most likely is never going to talk. He may surprise us, but it's not looking hopeful.

They are going ahead with the 'idea' of it being neurofibromatosis, but he has to have a few more things in order to be clinically diagnosed with it at this early age. Ya'll, that's NOT a good thing. According to my NF mentor, being diagnosed under the age of puberty normally means they have a more severe case of NF.

Just as a background, the most common effects of NF1 are:
Visual impairment/blindness
Optic gliomas
Lisch nodules on the retina
*Seizures
Headaches
*Brain tumors
Blood vessel defects
Learning disabilities
Mental retardation
*Macrocephaly (oversize head)
*Speech imparments
High blood pressure
*Cafe au lait spots
Fibromas
Scoliosis
Early or delayed puberty
*Digestive tract issues: pain, vomiting, chronic constipation or diahrea
*Delay in learning to walk or talk
*Short stature
Severe itching
Cancer
Pseduoarthrosis (false joints)
Bone deformities of the legs

Those effects marked with an * denote issues Alvin currently has. So you see, we're dealing with something that could potentially have a severe impact on Alvin's life. No, he hasnt been clinically diagnosed with it. He's not old enough and we havent been to the optometrist to see about the lisch nodules. If Alvin does have lisch nodules, then he'll meet the clinical definition for a child under puberty. Problem being, the nodules dont normally show up until after the age of 4. So, the neuro is saying to treat him like he does have NF1, because of all the markers so far, and if need be, wait til he's older to get the clinical diagnosis.

Ya'll I'm scared. I'm upset. We go back on Monday to the neuro to talk more about these gliomas and UBO's and to talk more about how to help with Alvin's other issues.


PS, to the bitch: Cant fake MRI results bitch. Get a clue before you spout your mouth off.