Spleen Guard

Email February 11, 2014

We had an appointment with the liver specialist today.  He is still certain that Patrick has fibrosis in the liver.  He wants to wait on doing a liver biopsy right now as he doesn't want to put his little body under more stress at this time...nor put him under anesthesia again so soon after his last one -- all these tests take a toll on Patrick's body. 

The doctor measured his spleen.  He had two additional doctors come in to feel the enlargement of his spleen.  He highly recommended a spleen guard...one of his many concerns was a fear that Patrick would fall and cause trauma to his spleen to cause bleeding....and he referred us today to begin this process.  After our appointment, we took Patrick to be measured and fitted for the spleen guard; this should be ready in about a week.

He also was concerned about the bowel movements still being loose/diarrhea and has ordered more tests (hemoccult gastric, giardia/cryptosporidium, pancreatic elastase, calprotectin, fat/ Sudan IV).  Upon these results he will consider a colonoscopy and perhaps an endoscopy.  

My friend suggested a glycogen storage disorder, and he said that this does not seem to be the case -- in this instance, the liver cannot break down the glycogen which causes the liver to swell which backs up to the spleen which causes swelling resulting in the low blood counts....his liver has never been enlarged and so he really is ruling this out since this is where it would all start.  

Rare Diseases Day

Celebrate awareness . . . Rare Diseases Day!! 

Patrick's portal hypertension is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Portal hypertension, or a subtype of Portal hypertension, affects less than 200,000 people in the US population. While liver disease is rare in children, portal hypertension is even less common.
https://www.facebook.com/RareDiseaseDay.US

Here are some useful links:
Rare Disease Day
http://www.rarediseaseday.org/

Global Genes (Allies in Rare Diseases)
http://globalgenes.org/world-rare-disease-day/


Office of Rare Disease Research (through the National Institute of Health)
http://rarediseases.info.nih.gov/

SuperHero

Brick Wall

Prepare for brick walls over and over again, or going down paths that only lead you to dead ends.  So many times we have had hopes of an answer of what is going on with Patrick only to have those come crashing down....

On September 2013 we had an ultrasound that stated, "abnormal vascularity of left lobe increased arterial flow and reversal of left portal vein flow; abnormal liver echotexture; enlarged spleen."  This is portal hypertension.

GI doctor wanted us to have follow up ultrasound after the negative liver biopsy.  On November 27, 2013 the repeat ultrasound was completed only to find out that there was no evidence of portal hypertension.

Boom!!  It all came crumbling down.

Declaration - Portal Hypertension/ Portal Vein Thrombosis

Patrick was presented to the board and the GI team had some theories....congenital hepatic fibrosis which would cause the enlarged spleen.  They wanted to push forward with a liver biopsy (October 16, 2013). 

Although this would explain the platelets and enlarged spleen it is not a reason for the fevers, diarrhea, and low weight gain.

email 11/4/13  The results came back normal for congenital hepatic fibrosis. The GI doctor was shocked but did confirm that Patrick does have portal hypertension/ portal vein thrombosis.  

When we were in the hospital we did talk to the radiologist (before the biopsy was done) and he had told us that the chances of finding things can sometimes be hard as they are only taking a sliver from one section of the liver...oftentimes they will go in again and try another area.  The radiologists have stated they are 100% sure that there is something wrong with Patrick's blood vessels and 90% sure that what is going on is related to his liver. 

The Age of Reason

Could we actually be getting somewhere?  Could we finally hit an age of reason . . .

Email 10/4/13

Ultrasound - abnormal blood vessels and wrong blood flow - really thinks that this is due to the spleen being so large.  Monitor this.  No need right now to get another ultrasound but will follow up with this condition in 3 months.  

ALPS - blood will be taken and sent to the Children's Hospital in Cincinnati.  It was never run before as he had tested negative for rhuematoid arthritis and diabetes but this just may have morphed in another way....the arthritis and diabetes could be problems in the future if he has ALPs among other autoimmune issues.  This could explain the spleen and platelets.  It is very rare. 

Spleen removal was discussed a good bit this time around.  He feels that if we cannot get the spleen to reduce we will really need to focus on its removal.  We will discuss this at greater lengths in 3 months when the spleen gets technically measured again...and if ALPS shows up it would be top on the list for treatment to try and stop the other issues (diabetes, etc.) to overtake his body.  

Diarrhea is probably toddler issues...quickly asked if he drinks too much juice...nope, doesn't drink any as we had been instructed to not give him juice for many problems this could cause.

Again, they will present his case to the tumor board where the radiologists will be present.  As my sister said, hope that one of the radiologists will just stand and raise a ruckus that this boy has been presented several times within 2 years and nothing has changed but getting worse within the size of his spleen.  

Wish I had more to say but this is where we stand currently.  I am sending the MUSC doctor a similar email and await her response.  She really is discouraging the spleen removal until we can find out what is causing the problem so as not to remove an organ that can help us figure out what is wrong.  We eliminate the one thing that is giving us direction and he continues to not be better we have nothing to help us discover what is truly wrong.

MUSC

It took us from 2011 until 2013 to make a step forward.  We were stuck in a rut of not knowing what to do or where to go.  Patrick maintained his platelets over those 2 years anywhere between 60,000 and 100,000...varied all the time.  We continued to go to the local hematologists/oncologists and they kept close observation on him.  They tested Patrick for everything under the sun and everything always came back normal or negative.  I always thought what a horrible mother when the nurses, or doctors, would call to tell me that he didn't have this or that and I would be disappointed.  After two years we were nowhere closer to when we started....still high fevers, enlarged spleen, low platelets, low weight gain, and diarrhea.

We found us at our local pediatrician for some sort of virus and had a candid conversation...it was time to try somewhere else and he began the referral to MUSC in Charleston.  We made it down there for our fist visit...the email below...

June 14, 2013

Just to recap:

Patrick started a fever on Saturday and still continues.  It was good timing for our upcoming trip to Charleston.  He had been complaining about his stomach hurting...he says it hurts where the hole is (belly button) and doctor said it could be his spleen since his crosses through the center of his stomach.

Tuesday (went to MUSC)...blood counts were really all over the place.  His platelets were at 54K.  His hemoglobin was actually good since he was on iron but the proteins that surround the platelets were down half as well as his white blood cells.  His white blood cells have always been in a normal range.  Her biggest concern was his spleen as it is really large.  You do not even need to apply pressure and even can see it now if he is laying down and takes a deep breath.  It goes across his entire stomach...and really shouldn't even be able to feel it...but it is really hard.  It feels like a rubber ball.  

Wednesday (Greenwood Genetics)...Patrick had a fever that morning and just really didn't want to be there but glad we went.  They were very thorough and had some different ideas.  She could not think of anything genetically to run but wants to look at the breakdown of his metabolism and amino acids.  After reading his charts she immediately thought of Goucher's disease and wants to re-run that.  Normally the liver is swollen and upon checking on Wednesday his is normal.  They will also check for Fanconi's syndrome.  They pulled plasma and want to study his DNA and do a chromosome study.  They said these tests take anywhere between a week and 6 weeks to get back.  She will present his case to her counsel to see if they have seen anything like this before or have any other ideas.

In the meantime the doctor and geneticist said to be careful of his spleen area...no wrestling, riding bikes, jumping, etc.  The others have been so good to be mindful of this but how hard to keep a 3 year old boy from doing these things! 

The doctors are all a bit baffled....

Helpless Reality - The Beginning

Helpless

We never felt so helpless as we did back in July 2011 when Patrick began his given journey.  As a baby, we never realized Patrick had any signs of being sick...we thought he had been very healthy.
Looking back at pictures of a beach trip a few weeks before in June we noticed he was really pale and just seemed like he had had some 'bug' but never knew that we were about to travel down a road that we didn't choose....

We got back from the beach and noticed he seemed to be feeling cruddy.  Maybe the flu...fever, tired but no real complaints of pain.  The days went on and then he started to have a steady fever of 102-103.  I gave him some Tylenol and his fever spiked to 105.  Of course this was on the weekend when our doctor's office was closed so we went to minor care ... here is the excerpt from the email I sent out which recapped the several days that followed, dated July 14, 2011:

We are still in Greenville and probably will be through the weekend.  The staff over here is absolutely wonderful and loving.  They understand and know just what we need or feel when we cannot understand or even express ourselves.

This past Saturday Patrick (now 15 months) started a pretty high fever....went into Sunday when I took him to minor care and they rushed him by ambulance to Spartanburg Regional.  We spent the rest of the day into the night when they finally got the fever down.  His blood levels were low and wanted us to follow up with the pediatrician on Monday.  And so, I took the first appointment on Monday only to be told his hemoglobin was low and his platelets were alarmingly low and expressed the dire need to get to Greenville to where we have been since.  We have been through some extremely low lows here and through lots of prayer have seen God's hand close doors to things we were so frightened to imagine.  I literally felt like someone came up behind me and swept my legs up from under me....thinking now maybe that was God sweeping me up to hold me.  From that point on I do not remember breathing.  Poor Patrick had been poked, prodded, given blood, and had a bone marrow flow done thankfully to find out he did not have leukemia...they have also done an ultrasound finding no masses.  This is when I began to exhale. 

Poor Patrick was so pale and beaten and soon after this he scrunched up his nose and smiled....melted my heart and thankful God could spare him from such a tough struggle.

Unfortunately, there is still no sign of exactly what is going on.  Their best guess, and hope, is a virus but are sending off many tests for autoimmune diseases, rheumatoid arthritis, and will continue to track for a blood disorder that could be pretty tough.  In this last case, he too, would have a rough road possibly needing chemotherapy but as today goes on it looks like we may be able to cross this one off the list as he is fever free over 24 hours and blood levels are going back up.  Depending on some of the results of tests and his next few blood reports there is a possibility they would do yet another bone marrow test but we are hoping we won't even need to go there.

Please pray for my sweet little boy...he is growing stronger every day...we are seeing more glimpses of our little monkey every day as he seems to be doing better.  Please pray for his strength and healing.  Growing up I remember we pray for God's will to be done but a wise friend told me the other day it is ok to pray for what we want ....  God is good and he heard and hears our prayers. 

I am forever grateful for all of your prayers.  Thank you also for those of you who have opened your hearts to us and can never thank you enough for those who have been helping Brody, Regan and Alexander!  We truly feel God's arms wrapped around us!

PATCHES

This is Patrick...he is a pretty normal 4 year old kid who likes soccer, legos, and playing outside.  Unlike many other boys his age, Patrick had become very sick shortly after his first birthday.  He has now visited with more than 33 doctors and specialists and travelled over 3000 miles as we search for an answer for his chronic illnesses.  He has given so many vials of blood we have lost count...15 was the most in one sitting...and never makes a peep, and even watches!

Patrick was diagnosed with Portal Hypertension and Portal Vein Thrombosis about a year ago.  There is a blood clot that completely blocks his blood flow from his liver causing it to go back into his spleen making his spleen really large and affecting many of his blood counts.  He has gone for treatment surgeries where they have found varices (like varicose veins) in his lower esophagus which can be very serious if they begin to bleed.  He has had 3 treatments since October and has had to be banded 3 times.  We continue these scopes and bandings every two months to prevent Patrick from having any serious bleeds.

Patrick also suffers from recurrent high fevers.  His episodes come every month and generally last five days.  He does not get any relief from medicines and oftentimes the medicines will further increase his fevers.  Patrick just grins and bears it.

Just recently we have found out he has a heart murmur which needs to be monitored and has factor five leiden (a blood clotting disorder).

Patrick is real tiny for his age and has to be restricted in his play which makes for a very sad boy a lot of the times.  He wants to play soccer and lacrosse but, with his condition, we have to be careful in the activities he does.  Patrick tries to keep up with everyone but gets real tired oftentimes and has a hard time catching up.  

This is our Sweet Warrior Patrick...he is a truly amazing and strong little freckle-faced boy!