MCP mutations

[Steve Greene]

Please share any information you have about MCP mutations here -- thank you!

[Cheryl Biermann]

Hi Debbie,

 

First of all, yes MCP does appear to occur less frequently.  However, I believe you anxiety is just as justifiable as someone like us who relapsed at the drop of a hat!  Be diligent.  These are the steps I took to lower the stress of rushing to tha hospital.

 

1.  To go bags for him and I. 

2.  A list of meds, and a little cooler for meds that could be pack in a moment, (for the times we had to wait on a room to be admitted.

3. CPAP Machine bag close by his machine for packing at a moments notice.

4.  Two sets of numbers, one for my other kids, who to call for rides to school, rides to games and baby sitting and emergencies and one set in my purse.

5.  Bill and I are a team, I usually stay with Nathan, (this is when it is really helpful to be a homemaker!), and Bill manned the fort.

6.  Bill made visits after work for a couple hours then when home, to help control his anxiety and he made frequent calls. 

7.  I asked for the relevant labs to track progress or regression and relayed that information on the Bill and the family, he decided when the other kids needed to be informed of things.

8.  Last but not least we had people ready, willing and able to pray for not only Nathan, but the whole family.

 

I know others have their own system, so when you get replies, see what makes sense for your family.  Hope the labs start to turn around soon, we will pray for you and him.

 

 

 

 

[debbie thelwell]

thanks this is really usefully

 

[Theresa Pereira]

After many years of waiting and many tests done in Canada, France, Germany and Italy...

They have discovered in France that Olivia has a new type of MCP mutation.

All other factors are normal and explains why she never required any plasma treatment and spontaneously would snap out of the relapse herself.

Also explains why she never had high blood pressure, no kidney damage and never required dialysis.

This is known to be the mildest form of AHUS.

We have Dr. appt on the 30th to review in detail.

Will keep you up to date.

[debbie thelwell]

thats good that u have an anwser, the not knowing what is causing it is difficult. At least now you have the peace of mind that it is a mild form of MCP which of all is the better outcome. Good luck with your hospital appointment. we had ours on Monday and are contacting the team to see if Josh could be excepted for drug trials fingers crossed.

[Theresa Pereira]

Is Soliris an option to treat MCP mutation?

At this point, I dont think even plasma is....

[debbie thelwell]

We have been told so, Josh had kidney failure last time but thank goodness it returned so only needed dialasis for a few days, he was given blood transfusions and not plasma. Which was good as plasma doesnt help MCP I will keep you posted of our journey to get soliris so when and if he has a relaps where ready to give it a go.

[Theresa Pereira]

Olivia did relapse once again for the 5th time two weeks ago.

She was in the hospital for 6 days.

Knowing now her mutation is MCP and mildest form of HUS, we were worried but felt a little more in control and not as "panicked" as past.

This turned out to the mildest episode to date.

She required no platelet transfusion, not red cell transfusion (never rcvd plasma nor Soliris for all 5 episodes)

She completely bounced back on her own once again :)

She is home and happy and feeling good again!!!

(once again, the trigger was a virus)

[Cheryl Biermann]

Wow, on her own!  What do they do when she relapses, just out of curiosity for others who may have MCP?  Do they just monitor it? 

[Theresa Pereira]

yes just monitor, she received IV fluids, medication for nausea, Tylenol if needed and Zantac to protect stomach because she doesn't eat during most of stay due to nausea and fatigue.

Her BP always remained normal.  She never suffered from high blood pressure.

Although her platelet / hemoglobin count get very low, they wait and allow it to bounce back on her own along with everything else which by day 4-5 always did.

Creatinine levels rise but that too falls back to normal number.

 

 

[Cheryl Biermann]

Whew!  It must be hard having to wait & not do much but give comfort!  Thank goodness they know what they are dealing with!

[Theresa Pereira]

Her neph is excellent and really knows her pattern too well.

He did give her platelets in past when he felt ness but I really appreciate his outlook and opinion.

He is not rushed to make drastic decisions and always thinks what is best not only now but long term as well.

We have done kidney biopsy after her 3rd episode.  Results showed residual HUS but no "damage"

Once she comes out of her episodes all bloods and urine show 100% normal.

Never left over signs (ie. protein in urine or high creatinine level)

We are fortunate.