The beginning of Ashton's Journey...

In 2011, Neal and I had a "complete" family with three wonderful children, but felt strongly there was one more to add to our clan.  So began our journey.  When our kids learned that Mommy had a baby in her tummy, they named her Breanne and especially Hailey was planning on a sister. When I was three months pregnant, Neal was out of town for business and I had a dream. In my dream, I was three months pregnant and outside watching the kids play when all of a sudden my baby was out of my belly running around. Only he was a toddler with heavy lids on his eyes, a lot of red long hair that blew in the wind, many freckles, and seemed to run on his tip toes. He was clumsy, yet happy and playful.  He was long and skinny with floppy arms.  I was mortified thinking, this baby should still be inside.  The neighbors are going to ask and how do I explain? A woman stood next to me saying, “You have to accept this and come to terms with this and be at peace.”  I woke and called my husband and said, “We are having a BOY!!”  Sure enough our sweet baby boy Ashton was born September 18, 2012, weighing 8 pounds – 1 ounce and 19 inches tall.

Our delivery was very quick, and at first Ashton struggled to breath.  Within a few minutes he was crying and well.  Neal and the nurses quickly discovered unique features of Ashton.  He had adorable webbed toes and had hypospadias. As the night came, Neal and I noticed his eyes were often shut and when he was awake one eye would open just a peak.  When Ashton nursed, he seemed to pacify and didn’t seem to eat enough.  He dropped down from his birth weight and remained at 7 lbs - 13 ounces for the first month of his life.  We decided that due to his weight loss and his eyes still appearing shut, it was time to see a specialist.  To our surprise, the Pediatrician referred us to a Neurologist. 

The Neurologist diagnosed him with low muscle tone and a muscle in his neck was under developed causing him to favor his right side.  Ashton had an EEG to rule out seizures and epilepsy. We were referred to other specialists including a Urologist, Ophthalmologist, Geneticist, and Physical Therapist. The Urologist plans to perform a hypospadias surgical repair in two stages.  The Ophthalmologist diagnosed him with Ptosis (droopy eye) and Amblyopia (lazy eye) and plans on surgical repairs. Ashton has a Physical Therapist work with him once a week.  He was starting to slowly gain weight, however he became very constipated, so we took him to a Gastroenterologist.  The Dietician developed a feeding plan to help Ashton grow and take care of his constipation.  Fortunately, we were able put weight on him.  During this time, we also took him to a Geneticist.  He performed a blood test and Ashton was diagnosed with a rare medical condition called Smith-Lemli-Opitz Syndrome.  To our surprise it was this test that gave the puzzle piece to solve his health mystery.  We discovered it is so rare, that there are only approximately 500 documented cases in the United States.  Nonetheless, I was so excited to have an answer that I quickly posted to all my friends and family.  I was happy to at least know what condition Ashton had, so we could care for him the best we can.  I had already had emotions when Ashton and I would be up all night due to his constipation pain and me feeling responsible when he didn’t weigh enough or struggled health wise.  Neal on the other hand had difficulty with the reality of learning about the Syndrome.

What did this mean for Ashton? His future, our future?  Together Neal and I have had to rely on our team of doctors and each other.  He is now seven months old and much stronger and healthier.  Although we had a good plan in place for him prior to receiving his diagnosis, we continue to learn more tools to help him progress.  Physical Therapy has already helped him so much.  We have discovered support groups and Foundations that cater to SLO Syndrome.  In June, the Smith-Lemli-Opitz Foundation is having a Family and Scientific Conference in Pittsburgh and we are looking forward to attend to meet other great families and learn more about the syndrome.

I feel so blessed to have this Beautiful boy in my life.  I may appear to be a stress ball who never sits down.  However, Ashton is a true blessing to our family and friends.  His huge smile melts hearts!  His cuddling nature is so sweet.  He is so calm and sweet, especially considering the numerous tests and appointments he has. He is loved and adored by his siblings and a joy to us! 

Love, Tania Grumbles

Ashton’s SLOS symptoms:

• Mild Global Delays (cognitively/physically)
• Poor suck/nursing issues
• Ptosis (Droopy Eyes)
• Amblyopia (Lazy Eye)
• Hypospadias (Penal Deformity)
• Syndactly in the 2^nd and 3^rd Toes (Webbed Toes)
• Hypotonia (Low Muscle Tone)
• Acid Reflux
• Sun Sensitivity