Jenny's Journey: muscle weakness

Monday, July 21, 2008

Introducing Alex

At the top of Jenny’s website is a simple and poignant question: “Am I alone?” Apparently, she is not.

Although the many specialists reviewing Jenny’s case were hard-pressed to name similar cases in their experience, family and friends now have identified at least five strong comparables by creative use of simple searches on the Web to look for children with similar neuropathology. Physicians agree that the medical histories of Jenny and these potential comparables are sufficiently similar to justify a working hypothesis that all of these children are suffering from the same disease.

One case in particular, that of another 14-year-old girl named Alex (http://www.caringbridge.org/visit/angelsforalex), underscores the rich potential of studying data on comparables. Alex’s medical history is strikingly similar to Jenny’s, right down to the instances in which the two families first realized that something was wrong: in Alex’s case, it was her inability to throw a softball with her pitching arm; in Jenny’s case, it was her inability to clear a low hurdle that everyone else in her gym class cleared with ease. Alex’s family and physicians have made her records available to Jenny’s medical team, so that we can develop side-by-side comparisons that may provide insights into their mysterious illnesses. Alex’s situation offers unique research opportunities into possible genetic factors because she has an identical twin sister who thus far shows no sign of the disease that appears to have stricken both Alex and Jenny (although the twin has had other, potentially related medical problems).

Alex’s experience also underscores the urgency of identifying the cause, and therefore possibly a cure, for the disease that she and Jenny seem to share. Alex’s first symptoms appeared in 2005, two years before Jenny’s. Today, Alex not only is completely paralyzed, but is unable to eat or even breathe on her own, as you can see in this heartbreaking video made by her family (http://ca.youtube.com/watch?v=Lq6qotHIiCM).

Keep watching this blog for updates on the search for comparables and the race against the clock to find a cure for Jenny, Alex and every other child suffering from this horrible mystery disease.

Am I a Comparable?

To aid in finding a cure for the disease that took Jenny's life, we are still collecting information on any “strong comparables” to Jenny’s case, where a comparable is defined as someone:

(1) who has experienced rapidly progressive weakening and loss of the use of his/her limbs,
(2) for whom the onset of the condition began before adulthood, and
(3) for whom treatments such as immunoglobulin (IVIG), plasmapheresis, steroids and immunosuppressants such as Cytoxan have failed to halt the progression of disease. The comparable would be even stronger if
(4) the individual were female rather than male. And, it would certainly be of interest if
(5) the potential comparable had received the Gardasil vaccine (or perhaps some other vaccine with key similarities, such as an aluminum adjuvant) prior to the onset of symptoms.
(6) It would also be of interest if the patient had both muscle weakness and pityriasis lichenoides (a rare skin condition thought to be auto-immune in nature).

But, we would like to hear about anyone diagnosed with juvenile-onset ALS or motor neuron disease, especially females with rapidly progressive weakening.

It is not necessary for a potential comparable to have each and every one of these attributes. But, when communicating about a possible comparable patient, please let us know which attributes that patient has in common with Jenny's case and any other potentially relevant information about the patient’s case history, family medical history, etc. Contact information for a physician familiar with the patient’s case would be especially helpful.

Jenny's Journey

Monday, July 21, 2008

Introducing Alex

Links

About the Photos

Am I a Comparable?

Related Links

Social Bookmarks