MPN + Neurofibromatosis Type 1 (RASopathy)?

[hunter5582]

Have been wondering how many others on the MPN forum have been diagnosed with both a MPN and Neurofibromatosis Type 1 or another RASopathy? Specifically wondering about what you have experienced or learned about the impact of having both of these conditions.

A few factoids: the JAK2 mutation and the NF1 mutation both cause problems in two different but related kinase systems (JAK-STAT pathway - RAS-MAPK pathway). These two kinase systems interact with each other. Both systems increase the likelihood of neoplasms as well as other issues. People with the NF1 mutation are known to be more likely to progress into leukemia.

Not much is known about how these two types of mutations interact and what the implications are. Perhaps as a group we can learn from each other.

For those not familiar with RASopathies: rasopathiesnet.org/rasopath... The RASopathies are a group of rare genetic conditions caused by mutations in genes of the Ras-MAPK pathway. Abnormalities of this pathway have profound effects on development and can cause one of several different syndromes, including: Cardio-Facio-Cutaneous (CFC), Costello (CS), Legius (LS), Neurofibromatosis type 1 (NF1), Noonan (NS) and Noonan-like (NS with Multiple Lentigines, NSML, formerly called LEOPARD syndrome; NS with Loose Anagen Hair, NSLH). These syndromes share many clinical features such as distinct facial features, developmental delays, cardiac defects, growth delays, neurologic issues, and gastrointestinal difficulties. While these individual syndromes are rare, as a group, the RASopathies are among the most common genetic conditions in the world..

[Adlon57]

Hi Hunter it's me again Adlon 57, I have finished my research for my 2ed, so have been looking hard at my various medical conditions over the years, there is a lot of research that will need to be done ASAP that I did not realise that could be inter-related, thanks for opening my eyes in that respect. I had meningitis [quarantine for six months, aged ten], my deformed chest from birth, I have FME epilepsy from a fractured skull aged fourteen, but after that my first surgically removed 'lump', [eventually diagnosed as schwannomatosis [NF3] in 2017?] {I found it was meant to be neurofibromatosis which would cause epilepsy?}

I had an epilepsy specialist whom I have known for forty years, he retired in 2013, but I do not remember ever been told that the neurofibromatosis and epilepsy were inter-related? I now believe a lot of information about my conditions have been held quiet from me, my operation notes from my neuroma operation on my spine, in December 1997, were mysteriously lost? After the retirement of my specialist [I believe he had epilepsy?], all my epilepsy notes before that were 'lost'?

I was 'told' "Did you know you have Neurofibromatosis type 2?" in 2006 by a medical student who had seen my medical history, in the same hospital my epilepsy specialist was! Actually by that time I had reached that conclusion myself! I had to spend four years sleeping in a leather chair, I knew I had a neuroma on my left elbow, I let my incompetent GP look into the matter, various xrays [???] and camera inspections up ungainly areas, I changed my GP and within three months diagnosed and operated in 2012, I actually had a seizure the morning of the operation, I burst out crying for about two hours, eventually I had the operation! I had no epilepsy specialist in mid 2016 but a neurologist made an appointment to see me, and both of us after inspection, in 2017 she finally diagnosed my as Schwannomatosis [NF3] I feel like a human tennis ball, somebody else found my medical notes, and my new GP had been told by my local hospital, I did not know anything about this 'doctor' in my local hospital, but she put me on a course of pregbalin as 'she' thought, as I was having trouble with my epilepsy medication [Fycompa] at the time in 2017, prescribed by my new epilepsy specialist in late 2016, they reacted badly [I think with the joints, I threw out of my window]. Not recommended for my particular condition, this was prescribed with absolutely no advice from myself.

Incidentely I had a very violent reaction, for a three hour operation in 1997, with morphine, I was out for two and a half days! I have at this moment at least three neuroma's around my prostrate, held back because of Coronavirus, BUT as you said I am going for an inspection for an operation, as two have formed in my 12 week isolation period, I need it ASAP despite being in 'quarantine'!

All this could be very important information for research into my condition, even my sister had a brain neuroma operation about 10 years ago in London, another sister had thyroid cancer about thirteen years ago, this could be important in the genetic side of the matter? Hello in Northern Ireland I'm here! Thanks again Hunter I owe you a drink!

[hunter5582 in reply to Adlon57]

I will take you up on the drink if I get to the Emerald Isle.

Sound like you have learned the hard way a lesson I learned. I keep a complete set of all of my own medical records. Not just the reports and notes - but copies of all of the imaging - MRIs, CTs, X Rays, etc. If it is an image, I have it on a disk. Electronic Health Records are much better these days, but better safe than sorry.

Sounds like you really do need to be connected with a NF Specialist. Some of them are Neurologists, which would likely be the best combo for you. Am wondering if any of your sibs have been diagnoses with NF or any other genetic condition. Looking into the underlying genetics that drive what you are experiencing is very important. SOmetimes things are linked. Sometimes they are not. Sorting it all out takes docs who really understand these conditions.

Add to this the need to be a strong advocate for your own medical care needs. When it comes to advocating for yourself, it is like Yoda said "There is no try. There is do." All the best in getting the care you need and deserve. Perhaps someday we can chat over a pint at a good pub that still caters to old codgers like us.