Ehlers Danlos syndrome, Type 1 diabetes, Right ventricular hypertrophy, Autism and Common variable immune deficiency. Oh boy, that's a mouthful!

I thought I'd do a refresher post to keep all our followers up to date on the obstacles that's been placed on our journey so far.

I first have to refer to my mother's diagnosis and her lingering influence on our journey. She was diagnosed with early onset Alzheimers disease when she was 57 years old. She died 7 years later on 11 March 2018. I have mentioned her in a lot of my posts and that is the reason I begin this list of Jacques' diagnoses with my mom's last.

Jacques was born with obvious genetic signs, the geneticist could however not give a definite diagnosis.

We received his first confirmed diagnosis when he was 8 months old. It was type 1 diabetes. I think this was the most difficult one to accept. It was the first chronic condition that they could tell us would be permanent and it would be a life long sentence.

I now realize that it was definitely not the worst diagnosis of the extensive list we have. The type 1 diabetes can thankfully be treated and people can live a relatively normal life.

The second condition that was diagnosed was Ehlers Danlos Vascular Type. This diagnosis came from my own research. It happened after an emergency laparotomy incision wouldn't close. The incision herniated four times before it was fixed. We finally convinced the very popular Paediatric Professor of Surgery that what he was doing wasn't working. He then (after the incisional site started bleeding so profusely we had to see a haematologist) decided to consult another surgeon (not paediatric) and this surgeon then fixed the hernia with surgical mesh. It has thankfully held until now. He has a small hernia above his naval now but it does not cause any problems.

I had also noticed strange stretchmarks on his hands and that combined with the atrophic scarring was enough to send me on the trail of a connective tissue disease. I googled these two symptoms combined with his left clubfoot (at birth) and found Ehlers Danlos Vascular type. I was pretty sure the rheumatologist would diagnose him with either vEDS or with Loeys-Dietz syndrome. The rheumatologist didnt know enough about Loeys-Dietz and said that Jacques' physical symptoms was enough to convince her that he had vEDS.

The third diagnosis goes hand in hand with the vEDS - he has developed Right ventricular hypertrophy. This is partly due to the vEDS and partly to severe sleep apnea. We did try a bipap machine but Jacques couldn't tolerate it. We also tried oxygen, but again without success so far. Jacques was born with a hole in his heart - an atrial septal defect. It caused severe pulmonary hypertension when he was a baby. It got better after a while (as the ASD closed) but after the connective tissue diagnosis we knew it would probably be back, and it was. He now suffers from moderate pulmonary hypertension. The treatment of all these conditions lie in oxygen therapy, but he cannot tolerate it. It is therefore a work in progress and this serves nicely as introduction to the fourth diagnosis.

The fourth diagnosis was autism. This was a weird diagnosis as by this time the neurologist and I had become such good friends that she had assumed I either already knew or I didn't care about a label. I asked her if she thought Jacques could be autistic and she replied that yes, he definitely had autism but she added that she didn't think I needed or wanted the label. I think this is definitely the diagnosis we struggle the most with. But I know that most of his aggressive behavior is born out of the trauma of years of "medical abuse". Abuse I am mostly accountable for. We tried so desperately to keep Jacques mobile and healthy that we missed what the trauma was doing to him.

He had 3 surgeries on his left club foot when he was a baby. He also had further foot and leg surgeries. Both feet were operated on in 2013 and then again in 2018 (this time they operated on the knees as well). These were in an effort to keep him mobile for as long as possible.

He had the 5 hernia operations as mentioned already. The initial laparotomy was an emergency surgery - he had an obstruction which the surgeon had to remove. After the laparotomy, the incision site herniated until it was fixed with the mesh.
He had a lot of trips to theater for grommets. We really struggled with his ears when he was younger.
He broke his left leg twice with very little weight bearing - the first time he had a spiral break, as he broke it while turning around quickly. The second time he fell over a small toy and it broke again.

We also had a scare after his tonsils were removed, he was around 5 years old. He started to throw up blood 10 days after the surgery. They had to burn the tonsil incision site closed again.
Years after this incident it finally made a bit of sense, the connective tissue disease explained a lot.

The diagnosis that finally sent us into panic mode and activated my fight or flight instincts was the common variable immune deficiency diagnosis we received. Again, this was not supposed to be a really "bad" diagnosis as there is treatment available. Very invasive, painful treatment called IvIg. It involves an infusion of immunoglobulin every 4 weeks.

And we tried the treatment for 18 months. It took 18 months to make both Jacques and myself finally snap.

I attribute our "resilience" upto that point to my family's unwavering support. We have the most amazing family who really support us in everything.

But after the many years of supporting Jacques through his "medical abuse", I decided that enough was enough. I had been selfish in my need to keep him with us, because it broke him mentally.
My husband and I made the decision to stop all treatments and planned surgeries. We agreed to create a calm environment and to avoid any and all medical facilities as far as possible.

This decision had some nasty repurcussions for me. I had some real trouble accepting the fact that I had essentially given up.

Now, here, I can finally refer back to my mom. Like I mentioned she had early onset Alzheimers and the last few years of her life was really rough on all of us.
This disease takes and takes and takes until there is nothing left to give. It is the most vicious and undermining disease I have ever come across, and I think that should say a lot in the context of this post.

But what this most horrid disease could never take away is the remnants of her teachings. The memories in which she passed along her wisdom and which I can now use as my guiding light. And I know without a doubt that she is proud of my decision to make Jacques' life as carefree as I possibly can, for as long as I possibly can.
Therefor the main diagnoses that we have will only be the five mentioned above. I am not looking for more, and I am sure I could find more if I continued searching. We will manage the conditions to the best of our ability, without invasive treatments. Thankfully, the type 1 diabetes is relatively under control, and that is the one diagnosis we need to keep an eye on the most. As long as we can keep his blood sugar within an acceptable range, we will be able to keep him away from invasive medical interventions. The rest of the conditions will take their toll, and, for me, it is a daily work in progress to accept that reality.