RE: using steriods (Tammy)

[Guest guest]

Tammy

I posted detail notes back in LATE November and early December regarding

ph's genetic finding of NOMID. If you search the archives you will find

long detailed notes regarding the call from Dr Kastner and his request to

change studies and now be followed under the NOMID protocol.

I have not really been through the ringer. NIH and Dr. Kastner specifically

have been wonderful. Kastner really took interest in ph from our first

visit and has take many hours from his schedule and called me out of the

blue in the evening to discuss ph and his symptoms. Initially he did

FMF. TRAPs and HIDS studies. When they returned back negative.... I thought

we were done. BUT about a month or two after I received the report, Kastner

called me one evening to review ph's medical history. Because of his

CHRONIC hives not relieved by Benedryl or Zyrtec... and because of his

history of recurrent aseptic meningitis as an infant and young toddler, as

well as his inability to concentrate and focus during his episodes... and

his bilateral knee joint pain etc... He asked for permission to run a DNA

study for NOMID/Muckle Wells. I said yes and after another 4-5 months

received a call from Kastner again... and he told me ph has the

Cryopyrin protein and he informed me of the specific mutation. Cryopyrin is

NOT tested for at NIH UNLESS there is a clinical picture showing certain

signs and ph had some of those signs... I really TRUST Kastner because

he did this on his own.... calling me after reviewing the chart and simply

stating that it was a slim chance that ph has one of the Cryopyrin

disorders however since he did exhibit rash, hives, chronic meningitis and

joint issues... we should check....

I was very shocked... as ph did not present to me like a typical NOMID

child... However I have found out since that the disorder is a spectrum type

of disorder... and some children and adults are on one side of the scale

with less symptoms while others are on the opposite side with extreme

symptoms. The future is unknown as is the onset of deafness, blindness,

Intracranial pressure, kidney failure etc... He will need close monitoring.

And the plan is placing him on Ankarina after the visit over the week of

March 20.

As for FMF I am not sure what you are asking????

Also when I find out more about our flights through Angel Flights, I will

also let you know. I hope we leave early cause that will give us a free

afternoon and I want to take ph into DC by train.

God Bless

Fran

Fran A Bulone

Mom to ph 6 yrs old

Waxhaw, NC

Owner & Moderator Group