In-Depth with Darlyn Simpson

I interviewed Darlyn Simpson of Ashley Gabby Designs months ago but I’ve been putting off editing (and publishing) it and wasn’t sure exactly why. Procrastination, I told myself. More time consuming. Not enough hours in the day. Well, yesterday, with Lilly back in school, I sat down and made myself and it suddenly became very clear why I’d really put it off. Because it’s hard. And sad. And not fair. And I didn’t want to face the feelings again, which is so selfish of me. Darlyn and her daughter face them every minute of every day and all of you deserve to hear their story. They’re brave enough to live it, I can certainly edit it. 

Stephanie is seventeen. But she functions at a three-year-old level. As the mother of a three-year-old girl myself, without any complications, who struggles on a daily basis to get her fed, dressed, to the potty, out of the house, to school and appointments, I’m often left exhausted, frustrated and short-tempered. Then I spoke with Darlyn and realized how insignificant my “issues” are. I pat myself on the back when I make it to the grocery store or do a load of laundry. She’s supermom, not me. Her strength, outlook, perseverance, drive and unconditional love are nothing short of remarkable. Do yourself a favor and read her beautiful story (including her advice for all of us), then go hug your kids and buy them a teepee, of which a portion of the proceeds go to children with special needs. Children like Stephanie. And the mothers, like Darlyn, who fight for them every, single day. 

Nat: When did you learn of Stephanie’s condition?

Darlyn: Stephanie was about 8 months old when her pediatrician thought her body shape was abnormal; one side of her body was larger than the other. You could definitely see that her cute chubby baby rolls were thicker on her right side. Her first diagnosis (of many) was Hemihypertrophy (Hemihyperplasia). This condition meant that Stephanie’s bones and tissue were growing faster on one side than the other. This also meant possible leg length difference in the future and a 25% higher chance of abdominal cancer. She had to undergo abdominal ultrasounds and bloodwork every three months for her first 7 years of life to monitor any cancer growths. Hemihypertrophy thankfully hasn’t seemed to have a negative affect on her at all and we honestly forget she has it. We do see some facial structure differences but otherwise no one would even know. It wasn’t until this first discovery by the pediatrician at 8 months that we were then sent for further genetic testing, which is when we discovered her genetic chromosomal abnormality.

Nat: So they didn’t detect anything in your pregnancy?

Darlyn: No, I actually had a wonderfully normal pregnancy for the most part and was told later that her genetic condition only had a 1% chance of occurring, even in future pregnancies.

Nat: Tell me about the testing.

Darlyn: The genetic testing itself was a breeze, consisting of simple bloodwork and cheek swabs when she was under a year old. It was the additional meetings with genetics counsellors, doctors and developmental specialists that were stressful and worrisome for me as a parent and what this all meant for her future.

Nat: What exactly is her condition? What is it called?

Darlyn: Stephanie has a genetic chromosome abnormality called Mosaic Trisomy 15, which is also referred to as Isodicentric 15 (Idic15) or Dup15q. This condition is the main contributor to her having Autism, Epilepsy and Developmental Delay.

Nat: It sounds rare?

Darlyn: Only about 60 children in Canada (where we live) are currently diagnosed with this rare condition. Stephanie’s genetic presentation is slightly different than others with this syndrome and her geneticists claim that there are no other children documented quite like our daughter. She is definitely one of a kind in our books!

Nat: What does it mean? How does it manifest?

Darlyn: For Stephanie, this conditions means she deals with features of autism, delay in language development, motor skills, low muscle tone, seizures, short stature and intellectual disability. Facial features include skin folds at the inner corners of eyes, a flattened nose bridge, button nose and a high arched roof of her mouth. Stephanie was fortunate that she was not also born with gross abnormalities of her heart, brain or internal organs, which can also be the case.

Nat: Does it get progressively worse over time?

Darlyn: Her genetic condition contributes to a number of secondary medical issues that have come up since 2010, which overall has made her quality of life a lot worse. I look back now and think how much of a blessing life was before 2010, back when I considered her to be “only” Autistic. She was happy and healthy and not weighed down by all these medical challenges. I fear each day of what new medical challenge we might have to face.

Nat: Tell me about that day in 2010.

Darlyn: Although she was diagnosed with Idic15 when she was a baby, I will always remember July 10, 2010 as the as the day everything changed in our world. It was the day my husband and I were called back from a fishing trip at midnight because her respite worker had taken Stephanie into the Emergency Room because she couldn’t see. It was determined that she had Increased Intracranial Hypertension, which means an increase of cerebral spinal fluid in her brain that didn’t drain as fast as it was produced. This increased fluid pressure mimics a brain tumor but no tumor is present to treat. The immense pressure in her brain caused permanent eye damage. She no longer has peripheral vision, is near sighted and is currently experiencing drying of her corneas. She underwent eye surgery to relieve the pressure and also surgery to implant a shunt in her spine, which drains excess fluid into her abdomen.

Nat: How old was she?

Darlyn: She was 11.

Nat: So young to go through so much. But it didn’t end there?

Darlyn: In 2011, she began to have seizures. She experiences many different kinds of seizures at the moment, and we see them on a daily basis. Some days are definitely worse than others. She has since undergone a brain biopsy to look for disease, and two brain surgeries to separate the two halves of her brain. These surgeries were in hopes of decreasing the spread of the seizure activity to the motor side of her brain, which was causing her to have drop seizures and suffering from injuries as a result. Recently, as a last resort, she had a Vagus Nerve Stimulator implanted into her left upper chest (think pacemaker of sorts) which is connected by a lead to the vagus nerve in her neck. It produces a current every 5 minutes for 30 seconds, in hopes of decreasing seizure activity and their severity. Neurologists are not hopeful about ever reducing or controlling her seizure activity, since the seizures have shown to be resistant to medications and surgery options. As if these conditions weren’t enough of a challenge for her to face, she also suffers from Paroxysmal Dystonia, which for her, are episodes of painful, uncontrollable, muscle contractions in her neck, shoulders, and arms.

Nat: How often do they occur?

Darlyn: Thankfully these episodes last only a minute or so and only seen weekly at the current time.

Nat: How old is she currently and how old does she “act” for lack of a better term?

Darlyn: Stephanie is now 17 years old. Overall, she functions at about a 3-year-old level.  She is verbal and communicative but she uses single words, short phrases or broken sentences. I think she secretly knows so much more than she is able to outwardly express and it is such a joy when we hear her talk about something that we didn’t know she knew.

Nat: What tools does she lack?

Darlyn: Stephanie needs full one-on-one care. This means she needs help dressing, eating, toileting and walking. She was fully toilet trained from when she was 4 or 5 years old, but regressed when she became ill in 2010 and now requires pull up briefs full time. She is learning to be helpful with dressing, and even meal preparation but because of her lack of comprehension and coordination of some tasks. She will probably never be able to independently do things like put on her own pants, socks, shoes or brush her teeth. She is mostly mobile but, with her impaired vision, she requires someone with her at all times to avoid walking into doorframes, corners and objects at her feet. She has no sense of danger or fear and, if left to her own, she would walk off a platform or burn herself with hot water or eat something inedible.

Nat: What is her life expectancy?

Darlyn: This is a difficult question to answer. Not because I don’t want to answer it but because it’s been hard to find an answer. Due to the rarity of her genetic condition, there is not much information about what to expect. The medical community is learning from kids like her. I know that there are a few older adults with the condition but not many. Most documented cases right now are children and young adults. I consider Stephanie to be one of the older ones, which always makes me feel like there is a deadline looming for us. I think a huge factor is SUDEP, which is Sudden Unexplained Death in Epilepsy Patients.  This is a very real and daily fear that grips us. Every single morning, we open her bedroom door with our breath in our throats. Every single morning, we let out a sigh of relief when she grumpily tells us to go away.

Nat: Is she in school?

Darlyn: Stephanie has always been a part of the school system with an individualized education plan. The last two years she has been attending a private facility for education and it has been the most incredible place for her. They have her involved in cooking, swimming, theatre, biking, outings and music. She has definitely experienced life more in the last two years than ever before.

Nat: Does she have friends? Is she able to? Are they also special needs?

Darlyn: Stephanie does show some interest in fellow classmates, all of which have special needs, but she gravitates to adults that serve a purpose to her. Because of the fact that she requires constant supervision, her life consists of adults. She shows an incredible amount of love for her caregivers (with giant, snuggly hugs) and asks us on a daily basis, “who’s coming”. Her group of close friends are current or former school education assistants and respite workers. She tends to have a lasting effect on these caregivers, which translates to lasting relationships.

Nat: Is she on medication? Does she go to therapy?

Darlyn: Stephanie does take a number of medications for seizure control and sleeping. Therapy, whether occupational or physio, is on an as needed basis, usually after having had surgery.

Nat: I know she fell recently and you cannot let a hand off of her now, were you able to before that? Tell me about her belt.

Darlyn: Stephanie has suffered multiple injuries from seizure falls. She has split her head and required stitches on a few occasions and even broke her collarbone on her birthday a few years ago. She was issued a soft seizure helmet for her safety after some of these injuries. She also started wearing a transfer belt, which is simply a padded belt that is buckled around her waist, which has two handles at the back for caregivers to hang on to. When she is up and on the go, someone must have a hand on this belt at all times. It eliminates us having to hold her by the arm, which can be unsafe for her and the caregiver if she falls. The belt helps us catch her during a seizure and usually we can guide her down on the floor slowly without injury. It is also helpful for her vision impairment by allowing us to redirect her when walking around objects and through doorways. She did have a period of time after her brain surgeries where she didn’t experience the drop type seizures and she was free from using a helmet and belt for over a year. Sadly, recently she’s been experiencing some increase in aggressive seizures and she unexpectedly fell directly on her forehead onto the floor, causing two black eyes and a couple weeks of recovery. This meant a new helmet and transfer belt. It also meant her short lived, independent walking was over.

Nat: Is she aware of her limitations? Does she become frustrated with her lack of independence? Fight back?

Darlyn: Stephanie doesn’t like having her helmet put on each morning and usually tries very hard to pull it off, but we are able to keep her hands away and distract her long enough with other morning routines and then she tends to leave it on all day. She doesn’t mind wearing the belt but does not want us to hold it, and will spin around to make us let go. We’ll then have to resort to holding her under her arm or use her wheelchair for safety. At least the belt is there in case we need to catch her during a seizure or lower her to the floor.

Nat: Did Stephanie’s condition deter you from having more kids?

Darlyn: I was a single parent until she was about 6 years old. I would’ve loved to have one more but I knew that I could only do so if I had a partner that was completely on board with having more children. My husband, whom I met when Stephanie was 6, was already dad to two daughters from a previous marriage. I’ve mourned that I didn’t have the opportunity to have a second child, to experience the milestones, soccer tournaments, handmade mother’s day gifts etc. However, what I do have is a fine appreciation for celebrating the very little things. Small victories that seem as big as the world to us. I wouldn’t change that for anything.