Friday, December 15, 2017

Sister sister



Genetic Counselor Called Today...

**JJ’s sisters DO NOT have the SPiNK1 mutation!!**

This is a sigh of relief. 

Counselor is expecting more developments within the next month or so on deletion and duplications of the PRSS (hereditary pancreatitis gene), CFTR (cystic fibrosis gene), and SPINK1 (gene associated with hereditary pancreatitis).  There may be more blood work for Jaylen at that point. In the meantime we pray for health and always happiness!

Happy Holidays!
&
Thank You God! 


Sunday, November 26, 2017

Update November 2017




Jaylen has had a few small episodes already this flu season. He has missed a handful of days due to the exhaustion and pain. We are praying for no hospitalizations this year again :)

At the end of the summer, JJ had what is called a WES or Whole Exome Sequencing. It is a genetic panel that tests for any abnormalities or variants in his DNA sequences. They’d be looking for these because some doctors are still convinced that the mutation in the SPINK1 doesn’t actually cause the recurrent pancreatitis on it’s own. It has to have another mutation or sequencing or variant that acts with it.

We are pleased to announce the WES came back with —no variants in his disease genes that are reported to be associated with the SPINK1 mutation. This test also looked for 59 different disease causing gene variants. All these were negative— which is awesomeness!  Still confuses the genetic counselor but it is what it is at this point. JJ is a very special kid no matter which way you look at it.

The genetic counselor will have results on the SPINK1 mutation for Jaylen’s two sisters by December 20th-finally! I will try to post another update after the Holidays. We are continuing to try to pump JJ full of Antox, vitamin C, probiotics, and any other anti-inflammatory vitamin we can find. Pain is controlled by ibuprofen and Tylenol.

He is such an inspiration to his dad and I. He will continue to enjoy every good day! Love him.


Wednesday, May 17, 2017

May 2017


Our JJ has made it through another flu season. Much less severe episodes compared to last year with no hospitalizations.

Jaylen had a specialist check up on May 4th.  No new tests needed other than a pancreas function test. The sample was taken and tested that day when we came back to IL.

We got the results this week and it showed that his pancreas function went UP! His slight to moderate pancreas insufficiency actually came back up to NORMAL function! Don't know how or why and we may never know. All we know is that his previous declining numbers are up to 423.5 u/g. To us it is amazing news! The calls have been made to the specialist for some sort of explanation, but regardless it's a miracle and sigh of relief for now.

Amazing kid- Amazing results


Tuesday, December 6, 2016

December 2016

Genetics didn't find anything new thus far. March appointment with that doc. To do what? Who knows. We just purchased his second month of Antox. Has not had an excruciating attack since September which gives some sigh of relief.

New elastase test again came back a bit on the disappointing side. Jan 2015: 222.2 ug, Oct 2016: 177.7 ug, Dec 2016: 165 ug. Numbers are declining which is not a good thing. Still in the slight to moderate exocrine pancreatic insufficiency. Attached is a website that explains a little more on this new obstacle. (Copy and paste to your browser).

https://www.pancreasfoundation.org/patient-information/ailments-pancreas/exocrine-pancreatic-insufficiency/

When he has problems with bowels, more pain after meals, or weight loss, we know it will be time for enzyme replacement pills with every meal.

Not really sure what I expected. Going to keep this at a minimum for sharing thoughts and feelings just to avoid saying anything that may offend or disappoint readers.

Heartbreaking.

JJ doesn't let this engulf and take over his life so I'm going to try to do the same.

Love you more than anything Jaylen....

Sunday, October 16, 2016

Updates October 2016



The month of September and October were eventful thus far.  Jaylen missed six days of school total in the month of September.  Luckily, I have a job that allows me to drop everything and look after our little buddy.  He had two pretty bad episodes that lasted around three days each.  The second episode was followed by a full 24 hours of fever and red spots on tonsils. We closed out the month of September with a 6 month check up with the specialist in Milwaukee, WI, Dr. Werlin.  The doctor ran some blood work, ordered an MRCP, and an elastase test for pancreatic function on the 29th.  The only thing new that was brought up was a trial run of Antox, a high dose of antioxidant vitamin blend to try to prevent frequency of attacks.  There is no evidence of Antox working for sure, but we have since purchased a supply from a European pharmacy because it is unavailable in the US. JJ will need to be on Antox for 3-4 months before determining if it helps at all. JJ left 3 vials of blood for tests to be done. Not even a flinch any more with blood draws-tough guy! Closed out our Milwaukee trip with a visit to Buffalo Wild Wings :)

Elastase test was dropped off on October 3rd with Rockford Health Systems. It is always fun handing a nurse urine and/or stool in this case.  Flu shots were done October 7th with normal pediatrician. Love- love- love our Dr. Davis! A few vials of blood were left with a new genetic doctor at Rockford Health Systems also on October 7th. Genetic tests are super hard to clear with insurance by the way. Most insurance companies do not find them reasonable or medically sound?? Whatever.  Some how the new doctor got insurance to pay something and we are on the road to figuring out if our other two children have the SPINK1 genetic mutations, depletions, or duplications. MRCP was completed on October 10th in New Berlin, WI. Jaylen does great laying super still in that machine. Man he is a trooper with all these pokes and prods!

Here's an FYI...  Our pediatrician in Rockford, IL informed me that Jaylen is his very first case of pediatric acute recurrent pancreatitis in 29 years of being a doctor.  This to me points out that he is a VERY special little boy-even more special than we had imagined!

All these tests yielded some results. The elastase test, which is a test to measure the pancreatic function, came back a bit disappointing.  Not going to lie, it is hard to accept or wrap my brain around.  From his last test done in January 2015, his pancreatic function went from "Normal" to "Moderate to Slight Pancreatic Insufficiency." The acute attacks on his pancreas have depleted some of the ability to do it's normal exocrine job. The MRCP showed minimal edema (swelling) of the pancreas and dilation of the pancreatic duct, both pretty normal in pancreatitis patients.  His last attack that we are aware of was on September 17th so that could have been left over from that attack.  That is the doc's hypothesis. Specialist does however, want to make sure that this edema and dilation are not due to chronic pancreatitis. Definition of chronic pancreatitis--irreversible changes that cause potential pain and/or permanent loss of function in pancreas. This means another test in November. This test will also determine if JJ will have to be put on digestive enzyme replacements to be taken at every meal.

In the meantime I suppose.... let's all be happy about these MRCP results:
Spleen-NORMAL, Lower Thorax-NORMAL, Ureters-NORMAL, Adrenal Glands-NORMAL, Kidneys-NORMAL, Bowel-NORMAL, Peritoneal Cavity-No Free Fluid, Vasculature-NORMAL, Lymph Nodes-NORMAL, Abdominal Wall-NORMAL, Bony Structures-NORMAL, Gallbladder-NORMAL, Liver-NORMAL

11 year old boy-NORMAL

Stupid Pancreas-why do you have to be so ABNORMAL?!?!

As always, pray for our JJ.

I Love You #1 more than anything! Mom




                     

Wednesday, September 7, 2016

The struggle is REAL


I remember once I prayed for the return of a boyfriend when we broke up.  I remember once praying for a zit to disappear, or for my lost money to reappear, or for an awesome Birthday gift. What things do you pray about??  Maybe it is for a new car, a nicer teacher, for new furniture, possibly to beat the Chiefs, your kid to shoot hoops better, for coach to play your kid more, to be more beautiful/handsome...

Man do those seem so insignificant at this point!

It is extremely hard to go through this life and not show my resentment for MYSELF and others that take life and the blessings that we all have for granted. Have I always been this selfish?? Have WE always been this selfish??

See the suffer: the significant pain of others especially the children's pain. Remind yourself day in day out. Then that's what you can pray for Nancy.


Friday, July 29, 2016

Hello you nasty little pancreas.





  • Cheese/Pizza
  • Certain Red Sauces
  • Viruses
  • Over Exertion/Lack Of Sleep
A big Thank You to the latest addition to the list of "Things that will set off JJ's pancreatitis." Saddened and confused as to how to restrict certain things in JJ's life.

Our fun get away in the beginning of July plus an extra sleepover plus late night baseball games equals a small (couple day) episode. Starting night football practices plus an extra sleepover equals a small episode currently. Heart breaking to know that he may have been embarrassed to walk off the practice field tonight in pain. The love that this kid has for football is amazing. So tell me, how are we as parents supposed to restrict things that make our kid a kid, or restrict things that make him smile? Not just that little side grin-- that huge, show my teeth, I'm so proud, look at me mom and dad, smile. Sigh.

Do not let it define him as a person. Jaylen is not acute recurrent pancreatitis. Pray for relief. Pray for healing. Pray for parents to do the right thing when it seems as if there is no right thing to do.