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We were excited to find out we were pregnant with Liesel. Everything with the pregnancy was normal and she was born with her beautiful red hair on Friday, 25 May 2018 at full term. She weighed less than expected at 2.9kgs, had a weak cry and seemed to struggle latching to drink.
By Monday she was admitted to the Nicu with an infection (unknown cause). She also needed blue lights due to jaundice. The Nicu was traumatic. Seeing your child go through repeated blood drawn, poked and prodded, screaming helplessly and unable to take the pain away was traumatic. It broke our hearts wondering how she perceived this world she was born into. After a few days we took her home where she still had to be under blue lights for a few days. I wanted to hold her all day but could only during feedings as she needed the blue lights.
As she got stronger we found ourselves with our precious newborn going through the normal things… Colicky, reflux, diapers and finally able to dress and keep her warm and snug! It was around 4 months when we started to notice that she wasn’t very responsive to sounds and went to the audiologist to get her hearing tested. After a few appointments we discovered she had moderate to severe hearing loss. The process of getting hearing aids is complicated and two months later we were still trying to get proper readings. At that stage she got sick and our ENT suggested grommets (ear tubes) to prevent glue ear. When she went for that operation he took out so much wax, more than he had ever seen. He also said that he had never seen such narrow ear canals. After the grommets were placed, the audiologist went to do the final tests to place hearing aides. Inexplicably her hearing was so good that she didn’t need hearing aides anymore! It was a true miracle and huge relief!
It was soon after, when Liesel was almost 6months old that she would flail every time she was trying to fall asleep. At the time we thought her moro reflex came back or her vestibular had to adjust after the grommets/tubes being placed in her eardrums.
On hindsight I assume they were seizures. This is also when she had her first regression. We now know that Phelan-McDermid individuals don’t do well with anestethics and can regress because of it. She stopped rolling, made less sounds and movements. She stopped bringing toys to her mouth. I only realised this as a regression months later as at the time we and our audiologist put the changes down to vestibular adjustments and we didn’t have the diagnosis and knowledge of Phelan-McDermid syndrome yet.
Concerns grew every week and month as milestones weren’t met, but we also expected delays since she had the hearing issues those first months. She also had strabismus which we went to the opthalmologist for regularly. Vision and hearing affects development but our concerns still grew.
By 9months we went to the paediatrician with our concerns. He ordered an MRI to be done, which came back within normal range (myelination) of her age at the time. He told us to go home and come back when she is 1yr old.
By 11months our concerns were greater. Liesel was still floppy, getting behind in all areas of her development. We bypassed the paediatrician and went straight to the Baby Therapy Centre to get an evaluation. They referred us to behavioral optometrists and the genetecist. We started physical, occupational and speech therapy. We were also referred to a neurologist who did a new MRI and discovered possible “Periventricular Leukomalacia” (similar to what individual with Cerebral Palsy have). At one year old she was diagnosed with Cortical Visual Impairment. By 16 months the genetic results came back and she was diagnosed with Phelan-McDermid syndrome. While we were already with an Audiologist, ENT, opthalmologist, behavioral optometrist and neurologist at the time, we now needed multiple other things to get tested. Within the next few months and between therapies we now needed to see a cardiologist regularly (she had a hole in her heart and high blood pressure). The cardiologist and nephrologist admitted her to hospital because her blood pressure was dangerously high and the neurologist wanted am EEG done.
It becomes a blur but up to 18months of age we were in Drs offices 1-3times a week (excluding therapies). Xrays(scoliosis), sonars of organs, hearing, eyes, lymphedema all have to be monitored by specialists.
At this stage we need to go back yearly to monitor if seizures set in, kidneys, hearing etc.
We have quarterly appointments with the opthalmologist, behavioral optometrists and soon we need to see the lymphedema specialist and orthopedic docter which will be regular too as she grows so quickly.
Liesel has and never will be a burden to us. We love her more than life itself and want to do the best for her. This is why we created Liesel’s Heroes. You see, Phelan McDermid syndrome is not on a PMB (prescribed minimum benefit) which means we get no support from the Medical Aid (private health insurance). Yip, they cover NOTHING. They also do not recognise Cortical Visual Impairment as a diagnosis in South Africa which means we can’t use that route to get visual things covered. The expenses are overwhelming between medical, therapy, equipment, setting up a safe/learning home environment for her.
Its confusing. Its a lot. If you’ve made it this far-Thank you. We appreciate your support immensely! We were never in a place of needing help and it has been a learning curve and humbling to ask for it.
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