Walking around the Coast of Britain for HNPP

Walking around the coast of Britain is a huge undertaking, I’m not sure of the total distance but it must several thousand miles. It would be difficult for those in full good health to complete, and even more so for someone who has HNPP. But that is what is being planned by a young man by the name of Barney Lee.

He hopes to raise awareness of HNPP and to raise funds for the research being done by Dr Jun Li at Wayne State University.

I’ll hand over to Barney’s website and blog,

BarneyLee : My Long Walk Around Britain

 

A Study: HNPP ,COPD, Weight loss, and Vocal Cord Involvement.

Linking to the same study. This is of interest to me, as there is a mention of COPD (Chronic Obstructive Pulmonary Disease) as a precipitating factor. ie persistent coughing causing nerve stretching, as well as weight loss due to COPD possibly being another contributing factor.

Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP).

OR

https://www.ncbi.nlm.nih.gov/pubmed/27241821/

Having severe COPD I am fairly certain I have experienced both the voice and swallowing problems after extended episodes of coughing, and the increased difficulty of breathing due to limited chest expansion during episodes of middle back/rib pain brought on by nerve root pinching in the thoracic spine as diagnosed by a GP many moons ago before my HNPP diagnosis. It’s not much fun, I can say that for certain.

Whether or not I get episodes of phrenic nerve palsy is unknown. Being episodic it rarely coincides with medical examinations or testing. Howver, chest muscle and muscles accessory to respiration I am fairly certain are involved in my case. Even so it hasn’t been easy engaging with Doctors/specialists on this issue. Downright frustrating in fact.

Very distinct problems with no causal link, but with symptoms that complicate each other.

 

 

 

Just a Quickie – e

I’ve seen it written many times, mostly in medical published articles, pubmed etc, that HNPP is mild compared to CMT. I think that’s a nonsense, it’s just too simplistic and does a disservice to both those with HNPP as it does CMT.

Equally one could say that CMT is just a mild form of HNPP, and equally nonsense.

They are both hereditary neuropathies, and CMT1a  and HNPP are caused by mutations of the same gene, Duplication in CMT1a and Deletion in HNPP. They each have unique presentations, and when that is factored with individual variation, the range of signs and symptoms is quite extensive.

Individualised patient care, labels are important but they don’t define the person or the presentation of that persons hereditary neuropathy.

I could be talking nonsense…

HNPP Dot Org

For some unknown reason HNPP.org is no longer online.

It had a rather old-fashioned web interface, but other than that it had a wealth of information about HNPP which was gathered over a long period of time some of which pre-dated the internet age. It had an HONcode kitemark.

I feel lost without it.

However, thanks to the Wayback Internet Archive Machine the information can be found at this address

https://web.archive.org/web/20161126113558/https://hnpp.org

I will temporarily update the links on this blog to point to this address, and hope that at sometime HNPP.org makes it’s way back online.