Entry Eight- Where we are today

I have shared a lot of my journey so far, but I wanted to change gears for a moment to give an update on where we are today. As I mentioned in an earlier post Oscar has been diagnosed with a genetic condition called 1P36 deletion syndrome which means that he is missing a portion of his first chromosome. This deletion can cause a host of issues including: gross developmental delays (speech, social, cognitive, gross and fine motor), eating difficulties, heart defects, brain abnormalities, seizures, hearing loss, visual defects all ranging from mild to severe. My son has had medical work ups in all of the above and is currently followed by 17 healthcare practitioners, 17!!

My son does have developmental delays. He is 20months and doesn’t have any words yet. We work on “mama” and “papa” daily and would love to hear those words someday. He sat on his own at 10months and was able to get himself into sitting by 15months. He started crawling at 17months. Today we are working on pulling up into stand, standing independently and walking. He did have delayed eye contact, but socially he seems to be doing well now. It is hard to get a grasp on his cognitive abilities because his expressive language is delayed.

Regarding his fine motor abilities, Occupational Therapy has been focussed on feeding, and now that that is better (we have transitioned to primarily solid foods) the plan is that we will start to focus more on fine motor tasks in playing. Oscar has never been a good eater. I tried EVERYTHING to breastfeed and it just didn’t work so as of 7weeks old he was formula fed. He was introduced to pureed foods at 9months and we started “soft solid foods” (Ex: banana, avocado) at about 12months. He now can eat more challenging foods including shredded meat/chicken, toast, cheese, steamed vegetables and pasta. He is able to manage a sippy cup independently and we are working on the transition to straw drinking. We are also allowing Oscar to “self-feed” more.

***Just a side note on self feeding. For parents of children who have struggled to eat, this transition is TOUGH! I literally used to count how many bites he would take in a meal and I am now trying to break this habit. It is really hard to go from feeding your child and knowing how much of what they are eating to self feeding. 1) Are they getting enough food? 2) Are they done eating or are they becoming frustrated and are giving up on that meal? 3) Do they have the fine motor abilities to pick up the food? My point is there are so many challenges and it isn’t as simple as letting the child feed themselves (although this is the end goal).

Cardiomyopathy (disease of the heart muscle) is a risk for children with 1P36 deletion syndrome and can develop over time so we do follow up with a pediatric cardiologist. Oscar does have a mild heart defect which isn’t expected to cause any functional issues.

He does have a brain abnormality called “polymicrogyria” (extra, small folds in the frontal lobe of his brain) which is the source of his seizures. I am afraid to say it out loud, or to write it down. For whatever reason if I put it in the universe I am worried that I will “jinx” it, as silly as that sounds. Anyways, I won’t get into specifics, but Oscar has been seizure free for a good amount of time (managed by medication). In late December 2019 we weaned him off of phenobarbital successfully and he is now just on Topiramate to control his seizures. Oscar’s polymicrogyria is “extensive” and this means that he has a high potential for seizures, the neurologists suspect that he will be on some form of anti-convulsant medication life-long and doesn’t recommend weaning him off to the Topiramate.

Oscar was diagnosed with moderate to severe “mixed” hearing loss in both ears at 3 1/2 months old. He got his hearing aids at 4 months old and he wears them religiously. The “mixed” hearing loss means that a portion of his hearing loss is related to dysfunction in the sensory structures of his ears and some of his hearing loss is a conductive loss meaning how the sound enters his ears. He is followed by an ENT and an Audiologist. Now that he is older, the ENT is willing to try putting tubes in his ears to see if this improves his natural hearing by addressing the conductive portion of his loss. We are lucky that his hearing loss appears to be stable (not progressively worsening which can happen) and that the hearing aids allow him to hear “normally”. Putting tubes in his ears will hopefully improve his hearing when he isn’t wearing the hearing aids for example in the bath or pool and at night. Because of his hearing loss he was fast-tracked for speech therapy and he has a deaf and hard of hearing teacher who comes to our home every other week. Once the Hospital for Sick Children opens up for elective surgeries, Oscar’s procedure will be scheduled.

Visual deficits is the final category that can cause problems for children with 1P36 deletion syndrome. Oscar does follow up with a Pediatric Opthamologist annually. His last check up was at 6months old and at that time his vision was “typical” for a 6month old. The Ophthalmologist did mention that as he grows he may have difficulty processing complex visual information. He will continue to be monitored.

Olivia is in junior kindergarten. Because of COVID she has been homeschooled since the middle of March. She is such a social girl and is missing her friends, but we keep her distracted at home. She learned how to ride her 2-wheel bike in March and now she bikes daily (5-12kms). We are teaching her to play tennis as well. We are lucky that she has been able fo FaceTime with family and friends. She LOVES her baby brother. The other day she said “I love my baby brother more than I love myself”. I have hope that my kids will always be there for each other. We love them!!

Photo: May 2020

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