The next four months.

After the neurology intake, Derek and I began really diving into the diagnostic process with Greyson. Luckily through my job, I had access to resources that most parents typically don’t. I had a child psychiatrist literally steps away from my desk, and a team of highly trained behavioral analysts & therapists to answer any questions we could have thought of.

Most parents are completely overwhelmed and stressed when they are told that their child may have a developmental disability and by no means, Derek and I were too. The thought of a Sturge-Weber Syndrome (SWS) diagnosis really scared us, and if I was a parent that had no access to the help that I do, I would be completely lost. The most important thing to remember is that it’s ok to ask for help. The best place to begin, even if you have the slightest concern in your child’s development, is to talk to your pediatrician. If you feel like they chalk it up to being “not a big concern”, trust your instincts. A parent knows their child more than anyone else and I am a firm believer of “going with your gut”. Secondly, call your county Behavioral Health or Developmental Services agency and set up an evaluation with early intervention (EI). The evaluations take anywhere from 1.5-3 hours and happen in the comfort of your own home. Staff come to the house and interact with your child, discuss concerns and options with the family and are able to give you an idea of what they think would be the best way to proceed. Even if your child scores above the criteria for services, it’s always nice to have a professional come in and be an extra set of eyes to validate your concerns.

After our EI evaluation and neurological evaluation with Dr. Gottlieb, we began the MDE at CADD. Now, my day-to-day job is to speak with parents on the phone about concerns that they have about their children, explain to them CADD’s MDE process and to get them started in that process. So, I was extremely familiar with what we were about to start and what to expect, but for those of you that don’t know what CADD is, or what we do there, I’m going to break it down quickly for you. The process consists of the following steps:

  1. Initial Evaluation- before you come in to start the evaluation, every new (and returning) patient fills out an 11 page packet. The packet asks questions such as birth, developmental and education history, services received in the past and what concerns you as a parent may have for your child. At this first appointment, patients meet with a clinician and discuss this information in full detail. The clinician explains to the client what services we offer and what they would recommend to be the “next step”.
  2. Diagnostic Assessment- probably the most important appointment of the process. This is an interactive appointment where the clinician will sit on the floor and play with your child. The parents may interact as well, but the clinician uses this appointment to really get a feel for how your child plays, processes stimuli and interacts with others. At this appointment, the clinician will determine whether the patient would benefit from a psychiatrist evaluation or psychological testing. Many factors contribute to which path the patient goes down, but ultimately, the patient could end up having both.
  3. Psychological Testing- CADD does two specific testing appointments for Autism: the ADOS (Autism Diagnostic Observation Schedule) and the ADIR (Autism Diagnostic Interview-Revised). The ADOS is typically geared for children/adolescents and is a series of modules, testing the client’s social, imitative and imaginative play skills. The ADIR is an interview appointment for the parents, caregivers, spouse, relatives or someone with a close relationship with the client, that could answer questions regarding their social and emotional behaviors. The ADIR can be used for children or adults.
  4. Psychiatric Evaluation- similar to a diagnostic assessment, the psych eval is an appointment with one of our child Psychiatrists. The psychiatrist will interact with the patient, also getting down onto the floor to play with children, ask the parents or caregivers questions and may even observe the client from a one-way viewing window. This is an opportunity to speak with a medical doctor about recommendations for medicines and other co-morbid diagnosis that you suspect your child may have.
  5. Feedback Appointment- this is the final appointment in the evaluation process. This is where the family comes back to meet with an MDE team member to discuss the findings of the evaluation. We see many parents leaving these appointments with mixed emotions- sad or scared because their child has just been diagnosed with a disorder where there is no cure yet. Some parents are even relieved. Relieved because they have known something was “different” about their child and now that they have the formal diagnosis, they can get the help that they need.

Greyson’s MDE at CADD consisted of an initial evaluation, diagnostic assessment, psychiatric evaluation and feedback. First impression that was given to us was a Global Developmental Delay, meaning Greyson is delayed in almost all of his areas of development. At the diagnostic appointment, autism was discussed and the psychologist we saw was almost positive that Greyson would have a diagnosis of autism, despite being only 14 months-old at the time. His psychiatric evaluation then confirmed the diagnosis. It was determined that Greyson has difficulty with his expressive language, reciprocal play and communication. At the feedback appointment, we received the final report:

  • Autism Spectrum Disorder- level 2 with accompanying language deficits.
  • Global Developmental Delay
  • Port-wine Stain of the face
  • Rule out Sturge-weber Syndrome

As much as Derek and I anticipated this, you are still never fully prepared to hear the words, “Your child has Autism.” We left the feedback appointment determined to seek the best help for Greyson. This was the point that the term momma bear really was relatable to my relationship with G. My life now was taken over by therapies, appointments and the need to advocate for my child.

To confirm or rule-out a SWS diagnosis, we had to do an MRI with Greyson and meet with the pediatric opthalmologist. Children with SWS often develop Glaucoma, have a district facial Port-Wine Stain and can have cognitive impairments. G fit almost all of these categories. We went to an eye doctor in York to check his vision, which was when we discovered G was far sighted and would require glasses eventually. I researched SWS and support groups surrounding the syndrome, since I knew that’s where the best information would come from: other parents/people that have delt with it. I found out that Kennedy Krieger and Johns Hopkins has a collaborative program that works specifically with the SWS clientele. The leading doctor on the team, Dr. Anne Comi, discovered the genetic mutation associated with SWS. I knew that she was going to be the best person for us to get help from.

With my hand trembling, I pressed “dial” on my cell and felt my heart beating as the hold music began.

Greyson before waking up from his sedated MRI at Hershey Med Center

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