Digeorge Syndrome Isaac Alvarez's story

Digeorge Syndrome and Isaac’s Quest for Work Beyond Graduation

2019 has been a year filled with meeting and chatting to great people, each with their own story to tell. Some people are understandably reluctant to share too much but others are open and keen to share in case theirs can help or impact the life of others who may find common ground.

It’s with great pleasure that we’re able to share with you the result of one loving family sharing their story with us. We’d like to Introduce Berta and her son Isaac …

Firstly Berta, thank you for taking the time to talk to us, we’re hoping we can shine a light on your NDIS experience and more specifically your son Isaac and his experience with Digeorge Syndrome. What was Isaac’s early life like and how old is he now?

From the day Isaac was born, he was diagnosed with a heart murmur (a VSD), which is quite common and usually closes by the time they reach 12 months old, in Isaac’s case it hasn’t still and he is now 19 years of age. At birth he was also diagnosed with an umbilical hernia, which we were told was purely cosmetic, nothing to worry about. At 3.5 months old, Isaac had intussusception, which required surgical intervention, where they discovered that Isaac only has 1 kidney. At about 10 months old he was diagnosed with hypocalcaemia, after an episode that put him in hospital. At this stage Isaac’s paediatrician started to get suspicious as to why there were so many things going wrong with Isaac and decided to do a DNA test, which revealed that he was missing a bit of the 22nd chromosome, a condition called DiGeorge Syndrome.

His first few years of life, he was in and out of hospital for various things, as above mentioned, but also mainly with chest infections, bronchiolitis. At the age of 4, his cardiologist attempted to close his VSD but in the middle of the procedure decided not to. His recommendation was for us to move up north to a warmer climate, so that Isaac wouldn’t get sick so much. So we packed up the family and moved to the Gold Coast. How I wish I could say that moving to a warmer climate would’ve stopped him getting infections that required antibiotics. He stopped getting constant infections when we got on the “health wagon”, but that’s a whole other story.

Happy to report Isaac’s been doing great, health wise, up until early this year when his umbilical hernia started to play up, causing Isaac a lot of pain and discomfort. Isaac has lost a lot of weight and developed extreme anxiety as a result. He’s on a waiting list and in the meantime we just have to treat him with a lot of caution, as it could become serious.

Can you give us some insight into Isaac’s Digeorge Syndrome symptoms and how it affects him as he matures?

DiGeorge syndrome is a chromosomal disorder that results in poor development of several bodily systems. Its features vary widely, it all depends on how much information is missing out of the 22nd chromosome. The syndrome can cause heart defects, poor immune system function, a cleft palate and low levels of calcium in the blood.

In Isaac’s case, yes, he has a heart defect, a VSD but he gets checked by a cardiologist regularly and he is very happy with the health of Isaac’s heart. Since we jumped on the ‘health wagon’, Isaac’s immune function improved greatly by the fact that he hadn’t taken\required any antibiotics in about 10 years. He’s had to take antibiotics this year because he’s had an infection in the belly button where his hernia is. We are hoping that these infections will stop once the hernia is fixed.

To stop the hypocalcaemia (low levels of calcium in the blood) from coming back, we make sure he takes Vit D, in the form of Cod Liver Oil. We are now very much aware, through the TV, that you need Vit D to absorb calcium.

We think that by now, his DiGeorge syndrome symptoms, would’ve all manifested and we have managed to treat them all as they’ve shown up. They are all under control and if any more show up, we will continue to manage them and treat them.

Isaac has now finished school, and we understand he attended a mainstream school for his entire education. Can you describe how school was for Isaac?

Once we were given the diagnosis of DiGeorge Syndrome, we had to see a geneticist to explain to us the condition and how to best approach it. At that meeting, the geneticist recommended for us not to tell the school about Isaac’s condition, as he could be “pigeon holed”.  They said that it would be better that as “things” started to show up then we could provide therapy to address those concerns, for example, if Isaac started to show speech problems, then he could have speech therapy to address the speech problem and so on.

We took that advice on board and when it came time to enrol him in school, we didn’t tell the school about Isaac’s condition. He started prep, he was happy to go to school, he didn’t even cry like a lot of the other kids did on their first day of school. He was always a very happy boy, and liked hugging a lot, which eventually the school slapped out of him, it somehow became an issue.

As he started to move through the grades, it became apparent that he would need extra support, so the school organised to have him verified to get funding for support. I can’t remember if they were using his hearing or speech to get him verified. In the process of the verification, there was communication between the school and his new paediatrician from the Gold Coast hospital, who let the cat out of the bag and told the school that Isaac has DiGeorge Syndrome.

Isaac loved going to Assisi Catholic College. He was there from prep to Year 12 and almost every year he was presented with Awards, such as the Merit Award, Pastoral Coordinator Award and an Academic Achievement award in Year 10 for Science for Living (He got the highest score for the whole of year 10 for that particular subject). He would work very hard and all the teachers knew that he did try his best. He wasn’t the sharpest tool in the shed, but he gave it his best shot, and that’s all they could ask of him. Every year I would ask them if Isaac needed to stay back a year, I was quite happy to do that, if he needed to, but to my surprise every year the teachers were happy with his level of work and moved him to the next grade.

In year 12, he didn’t do any OP subjects, as we knew there was no way he’d be able to attend Uni. We were quite happy with him actually finishing high school.

Throughout his whole school life, Isaac was unaware of his condition\syndrome. He was always a very happy boy and our thinking was that if he ever asked us ‘why he was different’ then we would sit down and tell him. We only just told him, after he started at Afford employment, we had to.

It was heart breaking, we didn’t realise how attending that facility\program would affect his mental health. He went from attending school with normal kids, for most of his life, to a facility with people in wheelchairs, that scream and touch\hit at times and he thought that one day he would end up like them, in a wheelchair.

If I had to do it all over again, I would approach it differently. I would start with one on one support first, then carefully selecting the activities that Isaac would enjoy, only sign Isaac up for activities with ‘high functioning’ individuals. I don’t feel it’s right to pool them all together in one group. I guess I trusted Afford to advise me and do what was best for Isaac. I’ve learnt, the hard way, that I can’t rely on other people to do what’s best for my son.

Graduating high school is a huge achievement, how meaningful was Isaac’s graduation to your family and did you celebrate together?

We never, in our wildest dreams even thought that Isaac would be able to attend a normal school, let alone actually finish year 12, with a Certificate II in Retail Services. That was a huge accomplishment and Isaac was very happy with himself. We attended the formal with him, where the students did a dance in front of all the parents. It was so beautiful to see him dance with the other students. They had practiced for weeks to perform for the parents. He was also presented by his peers with a certificate for “the best laugh”. I literally think it was the best night of his life and we were so proud of him.

Digeorge Syndrome Isaac Alvarez's story
Isaac Alvarez & his faithful feline friend.

We understand that after Isaac’s graduation, you sought assistance from a School Leavers Employments Supports (SLES) provider to aid in Isaac finding a job – can you describe your experience of SLES as well as Isaac’s experience?

The support teacher at Assisi had advised us to apply for the NDIS, that was starting on the 1st of July 2018 on the Gold Coast. She then advised us that the NDIS was offering SLES for students on the NDIS finishing year 12 in 2018. I didn’t know much about it but as she insisted, I decided to apply for the NDIS and as part of the interview, requested SLES.

All Isaac wanted to do was work, he’d completed a Cert II in Retail during year 11 and 12, so he felt that he was ready to work, and rightfully so, as he’d done really well in completing the Cert II. As parents we felt he would benefit from getting help in preparing to get a job. Things like practice with interviews, writing application letters, resume writing, and everything else that goes with getting and keeping a job. We thought SLES was a short 3 months course and that he’d get a job. We later found out, it was actually a 12 month course. So we kind of knew that he’d have to complete his SLES training in 2019 to be able to start work in 2020.

The week he started his SLES training with Afford, Isaac started to feel really sick. At first we thought it was gastro, and then after about 2 or 3 weeks, we thought it was all in his head, that he just didn’t want to go to Afford, that his dislike of the program was manifesting physically, in the form of anxiety and tummy aches. It turned out to be his umbilical hernia, which was diagnosed at birth, to be just a cosmetic issue, all of a sudden became an issue, that could become serious, as he had bowel protruding through the hernia that could get incarcerated, cut blood supply, get an infection and become septic.

Isaac was supposed to be in a group of 3 people getting SLES training 3 days a week, but the other 2 students never showed up, so it became a one on one training session once a week. He was doing SLES on Thursdays from 9 to 3 pm, up until September 2019. Depending on how Isaac was feeling, the trainer would either take Isaac out or actually stay here at home with him.

When Isaac would get home, I would ask him how he went for the day and he’d always say…’really good’, and then would tell me what he did and where he went for the day. He was just excited that the trainer was happy with what he was doing and that he was more or less ready for work. But obviously when we realised that it wasn’t gastro but his hernia the issue, we had to tell him that he couldn’t apply for work until his hernia was fixed, because he is not allowed to do any lifting or bending over. That made him very anxious, he would check the letterbox daily for a letter from the hospital. 3 months later and still nothing. We went back to the GP a number of times and the Dr would re-fax the referral to the hospital, in case it got lost … and nothing.

Finally we got a letter from the hospital in late June of this year, letting us know that Isaac’s been classified as a Category 2 and placed on a waiting list. We finally got a call in early November, from Robina hospital, and we now had an appointment with general surgery on Thursday the 28th of November – Isaac was really excited that he is finally going to get checked and hopefully have a date for surgery.

Can you offer some constructive feedback using your SLES experience as inspiration?

I would have loved for Isaac to have been in a class setup for SLES, so that he would’ve interacted with other students and made new friends, however, it didn’t turn out that way. Even when Afford lost their trainer back in September and I had to find a new SLES provider, the new SLES provider only does one on one SLES, they don’t do it in a group.

Isaac might work well in a group, other SLES participants might not, so to make it easier they just do one on one sessions. The new SLES provider splits it into 2 days, so Isaac does SLES on Mondays and Tuesdays, from 1 – 4 pm. That worked out to be a lot better than 1 full day from 9 to 3 pm with the previous provider, which again shows me that the new SLES provider has the participant’s best interest at heart.

We originally went with Afford for SLES because they were providing everything else I requested from Isaac’s NDIS plan, like speech therapy, group activities, one on one support, etc… I had everything Isaac needed under the one umbrella. In hindsight, I should’ve gone with the job agency for SLES, they have way more experience in the area, as that’s all they do, place people in jobs.

I honestly feel that Afford should have never offered SLES or even be allowed to do SLES. And even though they lost their one and only SLES trainer, they were and probably are, as I write this, doing information evening sessions for prospective SLES participants for next year. I don’t feel that they’re doing what’s best for the participants but what’s best for their bottom line.

As Isaac is an NDIS Participant, what has been your experience overall with the NDIS and specifically Isaac’s Plan?

There was so much paperwork involved, gathering information from Doctors, Psychologists and more. I was lucky that the school had done a lot of that already, to get the funding for support for Isaac. Once approved you then have the interview with the LAC, which goes for about 2 hours, just answering questions about Isaac and our day to day life and what his goals are. It is essential to be well prepared before going for your initial NDIS interview, packed with short and long term goals. We were lucky, we got funding for everything we asked for.

Next, you find Service Providers. I found Afford, which supplied all the services I asked for under Isaac’s plan. Organising each service took forever though. I thought it was going to be done quickly but it took over 1 month just to hear back from a speech therapist and occupational therapist from Afford. Because of all his health issues earlier in the year with his umbilical hernia, I had to put some of the services on hold, which I ended up activating just recently in September, as his new plan starts in December again. It felt like the year was almost up and I still hadn’t established all the services I had asked for in his plan.

Even though his plan was approved in December, I didn’t find out about it until January and therefore didn’t get the services started until February. After all the delays this year, I’m hoping that with the new plan, I will be way better organised with all the service providers now that I know the process.

As overwhelming as this whole NDIS process has been, it’s been an amazing help for us as a family. Isaac’s health issue aside, I really think he’s benefited a lot from the NDIS. And once his hernia is taken care of, he will be able to enjoy the services he gets from NDIS and life a lot more.

We understand you’re moving Isaac’s plan from being Agency managed to be Plan Managed. Can you fill us in on some specifics of why you decided to make the change?

I originally decided to go NDIA managed because I didn’t want anything to do with the money, chasing invoices, paying invoices, etc. I was quite happy to pick from a list of providers that were NDIA registered. At the beginning it was working quite well, then when I wasn’t happy with the service I was getting from Afford (their communication is horrible), and I also had a couple of bad experiences with other service providers that were NDIA registered, I decided I wanted to deal with one on one support providers directly.

Since I don’t want to chase invoices or pay invoices, I decided to go plan managed. Going plan managed gives me the freedom of selecting the best providers for us, without them having to be NDIA registered, all they need is an ABN number and they’re ready to go.

It’s safe to say, we’re excited for what 2020 will bring for our family!

NDSP is a NDIS registered provider specialising in NDIS Plan Management. If you are a NDIS Participant looking for the right Plan Manager, CLICK HERE to get in touch with our friendly team today.


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