Medical Issues

Part 4: A New Day, A New Diagnosis

History of Hunter’s Diagnosis

It is a new day and a new diagnosis for my fella.  Dancing around the truth (aka no one knows anything LOL).  This is a small snippet of Hunter’s diagnosis’ and what all he has been through to get to where he is.  So many months, so many procedures, so much medicine…..and now we have yet another new diagnosis.

June 6, 2017…..Life changed while he was sleeping. Hospital 1:  Lots of blood tests and urine tests.  Diagnosis 1:  Strep.  Antibiotic.  Go home.  He will be better in 10 days.

June 7, 2017…..Hospital 2:  MRI, blood test, urine test.  Diagnosis 2:  Cerebellitis.  Viral.  He will be better in 2 weeks.

June 8, 2017……..Hospital 3:  MRI, Xrays, Ultrasounds, Lumbar Puncture, EEG, blood test, urine test.  No clue.  Degenerative Neurological Disorder.  No clue as to what to do.

June 14, 2017…..Diagnosis 3:  Opsoclonus Myoclonus Syndrome.  High dose steroids, the first dose of IVIG.

1 week later…chemo.

2 weeks after that…chemo

Monthly IVIG from then until April 2018.

Chemo 2 x after that.

ACTH (high dose steroid shots) from Dec 28, 2017-Feb 27, 2018)

More blood work.

April 2018…Hospital 4 to confirm dx of Hospital 3.  Fearing neurological degenerative process.

A week later…admission to hospital 4 for a repeat of tests done a year ago.  MRI, Xrays, Ultrasound, Lumbar puncture.

Final dx from Hospital 4:  OMS

May 2018…Hospital 3 neuro says there is a good chance it is not OMS, but Spinocerebellar Ataxia.  Degenerative.  Neurological.  No cure.  No treatment.  It is genetic.  bloodwork.  He had not been walking up to that point.

A New Day

June 2018….unconventional treatment.

5 days later….he is walking on the beach.

July 2018….not SCA, fourth diagnosis:  1 copy of MRE11A mutation on chromosome 11.  Ataxia Telangiectasia Like Disorder.

February 2019, Hospital 5 at UPMC Pittsburgh.  Debunked ATLD1 diagnosis.  Revisit of 3rd diagnosis of Opsoclonus Myoclonus Syndrome.  Began treatment

Then we have blah blah blah……..

He has been through so much.  Physically, mentally, emotionally.  He is exhausted.  We are exhausted.

I’m so sick of man and him telling me what is this, what is that they don’t even know.  These Drs have never seen this.

The things I know FOR SURE:

1.  He does not have Friedrich’s Ataxia.

2.  He does not have a mutation on his MRE11A chromosome 11, which is ATLD1.

3.  I finally got a straight answer from Dr. Thakkar in Pittsburgh.

4.  We have good days and bad days.

5.  I am an EXPERT on my son and I will NOT waiver for life for the pride of another dr.

6.  He is cute.

7.  Best.  Smile.  Ever.

8.  He is also a turd.

9.  I will not compromise my faith.

10.  God.  Is.  Bigger.

This book on faith was written by a lovely woman that I knew when I was growing up…I encourage you to read this book.  It is an easy read and her faith, during her trials, is something to behold.

Part 4:  A New Day, A New Diagnosis

Related Posts

The Healing Process

I Will Never Be the Same

Let's Talk!

This site uses Akismet to reduce spam. Learn how your comment data is processed.