A Mother's Day Wish

My Mother’s Day wish is for a miracle and that I may have the chance to share this poem one day with my daughter.

My Miracle


From the moment your were born
I knew what love was really about
I loved you more than anything
Beyond the shadow of a doubt
The bond I felt was unbreakable
And instantly I knew
That I would spend eternity
Thanking god for my miracle, you
Time has quickly passed us by
And now you're quite the little lady
But in my eyes you will always be
My precious little baby
One day in the future
God will bless you with a miracle too
Then you will know the depth of love
That I will always have for you
I will be here for you always
And forever and a day
Loving you unconditionally
Every step along the way

Source: http://www.familyfriendpoems.com/poem/my-miracle#ixzz30zCwP2B2
Family Friend Poems


We quickly found out that since Sanfilippo is such a rare disease, we as parents, were going to have to fight for our daughter and find out everything we could...on our own.  We were told when Reagan was diagnosed, that after our brief meeting with our geneticist, that we already know more about the disease than almost any medical professional out there.  That’s when I truly realized that if we were going to try to save our daughter, most of the work to find out how would have to be done by us.

In the beginning of our research, I felt like I was getting lost on the internet.  Being a teacher, with no background in medical research or business, I had a lot to learn.  I still do.  I am just at the tip of an iceberg of what we need to find out. My hat goes off to other family foundations out there that amaze me every day with their efforts in finding a cure to save our children.  We would not be on the brink of a breakthrough without you. Thank you Ben’s Dream, Cure Kirby, Jonah’s Just Begun, CureSFF, A Life for Elisa, Team Sanfilippo, and so many more.  Your efforts have inspired us and have helped us feel like we, too, can make a difference.

Diagnosis Day

February 28th, 2014 will be a day that will forever be burned into my memory.  It was the day we sat down with our geneticist and genetic counselor to hear our daughter's prognosis of living with Sanfilippo Syndrome.  At first, of course, I felt complete devastation.  The life I had always dreamed for my daughter had shattered.  Even though at the time I had a seemingly happy healthy child, I was grieving as if I had already lost her......at least the loss of the life I had envisioned for her.  I don't think anyone can put into words the kind of pain you feel when you're told your child is going to suffer and you can't protect them....that you're basically going to watch them slowly die before your eyes.  I found that when I let myself feel that pain, I cry and cannot stop.  And I soon realized that this was not going to help my daughter at all.  I needed to do something, so after a few days of grieving and shock, my husband and I took action.  We refused to believe that there was no cure or treatment.  Thus, the research began.  I also stopped focusing on the facts of the disease, and started to focus on my faith.  We believe in miracles and started praying!!!!  We know Reagan is our tiny miracle and she is going to beat Sanfilippo!!!

The Journey Begins

Our story starts on one of the happiest days of my life.  The day our beautiful daughter, Reagan, was born.  The first year of her life, we enjoyed watching her grow, develop, and hit milestones of rolling over, sitting up, crawling, and walking.  She always seemed to be on the latter end of the typical developmental window, but she was born 4 weeks early, so we always contributed it to that.  She started going to daycare 2 days a week at 5 months old.  She soon had her first cold.  What we didn't know is that the congestion and fluid in her ears wouldn't clear until late spring of the next year.  The constant cold was considered "typical" for the first year of life.  We had a couple months over the summer when she was clear of cold, thank goodness, but by October, all the congestion and constant fluid was back.  Antibiotics didn't seem to clear it up, so by early February, we went to see the ENT.  Reagan is 23 months old. After her initial exam, the doctor told us that he would definitely recommend putting ear tubes in and getting her adenoids taken out, which is what we expected.  Then he dropped the bomb....he said due to her symptoms, and the fact that she has "coarse facial features" and didn't really look like either of us (her parents), he wanted to refer us to a geneticist.  I'm not sure what my husband and I looked like after that news, but I'm sure my jaw about hit the floor.  We definitely did not expect news like this.  Of course my mind started racing and so I tried to get more information from our ENT, but since this wasn't his area of expertise, we didn't get much more info.  All he could say was that he didn't think it would be "life-changing".  Boy, was he wrong.  No offense to our wonderful ENT.....I joke now that I don't know whether to hug him or hit him, since it was because of him that we got our diagnosis.  Joking aside, we are very thankful that we did find out early.  We now have time to research and fight for a cure to save our daughter.   Time is a gift right now.

Anyways, we took Reagan to see a geneticist, but both my husband and I pretty much felt we were going just to rule out any crazy suspicions of our doctor.  We still felt we had a healthy typical almost two year old.  To make a long story short, the geneticist said that there was a huge array of things we could be looking for, but that we should at least rule out the worst case scenario- MPS disorders.  Thus, Reagan received X-rays of most of her body that day, and we went home feeling confident that the worst case scenario would be ruled out soon.  The next day we got the call that the X-rays looked "suspicious", and all the testing began.  We endured the longest two weeks of our lives waiting for the blood test to come back.  One rainy afternoon, we got the call that Reagan had MPS IIIA.  I was at work when I got the news.  Luckily the day was almost over, so I immediately turned off my computer, walked downstairs to tell my colleagues I would need a couple of days off, and drove home to tell my husband.  I felt like my world was caving in.