To the Newly Diagnosed Rare Disease Dads…There is Hope

The Rare Disease Day anniversary always makes me think about my daughter Abby’s path to a diagnosis. I realize that at this time exactly 4 years ago, we were an undiagnosed family. We knew something was not quite right but … Continue reading

You Are Loved More Than You Will Ever Know

  I always thought we would be talking about fashion, school, boys and life changes when you were 12 years old. As a first-time parent, I envisioned I would be the kind of mom that you would be able and … Continue reading

Why I Do Not Count Down the Days to Summer Break

Ahhhh………..Spring break. In the chill of February, we know it is just around the corner. The thought of a week-long break from school and the possibility of warmer weather help to get us through those cold winter months. We just … Continue reading

How Report Card Day Reminds Me That Life is Good

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Four times per year. That is 4 more times that I am reminded of how different my daughter is from her peers. The thought of her academic differences is never far from my mind but the looming day brings it … Continue reading

A Not-So-Typical Birth-Mother Letter

You may never know how truly grateful we are for your decision to choose adoption for your unborn baby. There were other choices you could have made but you chose life and another family to raise your precious child. Our … Continue reading

Special in Every Way

It was in my daughter’s 1st grade school year that we were thrust into the world of Special Education services. IEP, IDEA, LRE, OHI, and LEA are just a few of the acronyms that were introduced to our vocabulary that … Continue reading

For I know the plans I have for you

For I know the plans I have for you,” declares the Lord, “plans to prosper you and not to harm you, plans to give you hope and a future Jeremiah 29:11 It may be hard to believe or understand, but … Continue reading

My Greatest Sorrow is My Greatest Joy

“Enjoy the little things, for one day you may look back and realize they were the big things” ~ Robert Brault

She’s dying. My 9 year old daughter is dying. Today I can say it without crying, but not necessarily tomorrow. Each day is filled with up and down emotions. Some days I am hopeful for a cure, but many days I am filled with despair and an indescribable sadness. My heart aches. My tears burn. My head and my body are tired.

You see, my daughter Abby was recently diagnosed with a rare, genetic disease that is terminal. There is no cure or treatment. No cure. 100% terminal. Every child diagnosed with this disease will die. I have never felt so helpless. As mothers, it is our job to nurse our child’s boo-boos, dry their tears, teach them how to deal with sorrow and upsets, and give them hope for a future filled with success and happiness.

Abby looks like a typical, healthy 9 year-old but her little brain is slowly fading away. She was normal in her development and met the usual childhood milestones until age 4 or 5. She then started to show a decline in her cognition and learning ability. We went through years of testing to find out the cause of her developmental delay. What we found out was worse than anything we could have imagined. She was diagnosed with Sanfilippo Syndrome, a rare disease that we passed on to her. How could that be? How could our precious daughter be born healthy and at age 8, we find out she is not healthy at all? She was born with ten fingers, ten toes, passed her screening tests, walked, talked, potty-trained on time, and was very outgoing. We just did not understand.

Her disease causes progressive brain damage. She will lose her ability to walk, talk and feed herself. She will more than likely lose her hearing and have seizures. Most children diagnosed with Sanfilippo Syndrome do not live past their teenage years. Aside from losing her, our biggest fear is watching her suffer. The thought of watching her lose abilities that she once had, slowly fading away, just makes my heart ache even more.

There will be no driver’s license, prom, graduation, college, or wedding. My husband will not get to teach Abby how to drive or walk her down the aisle, I will not get to pick out a prom or wedding dress with her, we will not visit colleges, and we will not get to revel in her children. These are things that we are gradually learning to let go of. As parents, we just assume that most of these things will be in our child’s future.

Needless to say, we have done a lot of praying, researching, and connecting with other affected families to try and find our way through this life-changing event. Through all of the sadness and sorrow of the past year, we have been privileged enough to gain new perspectives on life. We found strength we never knew we had. Our faith has grown even stronger. We have learned not to take each other and each day for granted. Our relationship with each other has been strengthened. We rely on each other so much more to get through daily life with a special needs child. Our lives are filled with difficult conversations, making dreaded decisions, explaining her illness to people, never-ending doctor’s visits, things that most people just can’t understand.

The most important lesson that we have learned through this is that we have to live one day at a time. I used to be a planner and thought I knew the path my life would take. As little girls, most of us planned our entire life, down to how many kids we would have. I used to think I would work a particular job, live in a particular house, in a particular neighborhood, have 2 kids, 2 dogs, and have a pool with a cute little fence around my house. Since Abby’s diagnosis, my husband and I both changed jobs so we could spend more time as a family, we sold our dream home and down-sized, and we moved closer to our extended family. Our lives have done a complete turn-around.

After Abby’s diagnosis, we live by the cliche, “enjoy the little things, for one day you may look back and realize they were the big things“. Now, I just want to enjoy a smile, a hug, or a laugh from my daughter. I want to sit with her and play. I want to help her brush her teeth, wash her hair, and help her put her shoes on. I can’t take enough pictures of her. We celebrate the smallest accomplishments as if she won an Olympic Medal. I am aware of what the future holds for her but try not to think about future milestones. It is too painful. I just want to live in the moment and enjoy her right now, the way she is.


 

*Please visit Abby’s website abbygracefoundation.org or Facebook page at www.facebook.com/CureSanfilippo to learn more about her progress and fight for a CURE. Twitter link is @abbygracecure and Instagram link is abbygracecure.

*To learn more about Sanfilippo Syndrome, please visit www.mpssociety.org.

*There is HOPE for a CURE for Abby and other children like her. We are raising awareness along with other parents of affected children. We are forever grateful for your support. All donations are tax deductible and 100% goes towards research and finding a CURE for Sanfilippo Syndrome.