I am thankful for this journey #Goldenhar Syndrome

My name is Aneesa, and I’m 24 years old. I am originally from La Mercy which is a little village located on the dolphin coast – we now live in Johannesburg. I was born with

Goldenhar syndrome. #Goldenharsyndrome was first identified in 1952 by Dr Maurice

Goldenhar, when he started noticing certain characteristics in patients. However, like many of the diseases that Rare Warriors have no two cases are the same. Goldenhar syndrome is defined as a #craniofacialsyndrome is defined as a craniofacial syndrome -this is because what is common in patients is the underdevelopment of one or both sides of the face, the severity of this differs from patient to patient. It can be anything from an underdeveloped jaw to missing an eye or an ear.

While Goldenhar is defined as a craniofacial syndrome, a lot of patients also have problems with other body parts such as the brain, kidneys, heart and in females the uterus. I am quite a complicated patient and my doctors like to joke that I give them grey hairs!! With regards to my face, I was born with a severe bilateral cleft lip and palate, the side of my face that was affected by Goldenhar is the left side – so my jaw was quite underdeveloped and I am missing some cheekbones. I was also born with left microtia/atresia – and it would be classified as grade 3,so quite severe. What that means in plain English, is that my left ear was underdeveloped (#microtia) and an underdeveloped ear canal (#atresia). I also have fusion of my C4 and C5 vertebrae and some of my neck muscles are underdeveloped. Vertebrae problems (particularly in the neck are pretty common in Goldenhar patients).

I also have #hydrocephalus – in layman’s terms it’s called water on the brain.I also have #nystagmus (this is involuntary rapid movement of the eyes). I also have low muscle tone. The other thing I was born with was congenital diaphragmatic hernia (CDH) – we’re not sure if this is related to Goldenhar or not but looking at what Goldenhar is and looking at what CDH is, it is quite possible. In most cases, the cause of Goldenhar syndrome is not known. However, in my case, the doctor who diagnosed meis 99%sure that the cause was DDT. DDT is a harmful pesticide – it is only legal in about six countries, one of which is South Africa. When my mom was pregnant with me, it was illegal, but sugar cane farmers along the north coast were using it illegally on their crops. Now DDT is legal again and is being used for malaria prevention.

The connection between DDT and Goldenhar was found during the Gulf War, when soldiers used to put DDT powder on themselves to try and protect themselves from rats and insects. When they would return home, and have children,the children would be born with Goldenhar. I had my first operation at 6 weeks old. This was to fix my cleft lip and palate. It was done early, because I was unable to eat properly, and gain weight. Now, if a baby with a cleft is born, there are special bottles to feed them, but 1993 that was not available so my Mom had to feed me with a syringe. I had a lip revision surgery in 2009. This was partly to improve the appearance, but also so I could close my mouth better. My palate was slightly more complicated. It was repaired a few times using the typical method, but this was unsuccessful as a fistula had developed – so most of the repair had remained in tact, but at the front, behind my teeth there was a hole that would not close. So, in 2008 a more drastic approach was taken. My surgeon decided to do a tissue graft – using a tongue flap.

It is as radical as it sounds. The surgeon creates a flap from the tongue and sews it to the roof of the mouth for ten days. This ensures that the graft will take, and that there will be a good blood supply. After 10 days, the tongue is released, and the graft will have closed the hole – which is exactly what happened in my case. Unfortunately, it meant that I could not talk for 10days, and all my meals consisted of anything liquid enough to fit through a syringe – it was not fun! However the op was a

success, and it also meant that should tiny fistulas develop in the future, there would now be enough tissue to close them (without doing the tongue flap!) which my surgeon has had to do a few times. Also cleft related is that I have clefts in my top jaw, so it’s segmented into three. The middle section – the front of the jaw or premaxilla – has been problematic, where the teeth didn’t develop too well, the roots were not very strong, as the bone in that section of jaw wasn’t too good either.

After doing braces for four years, I had a bridge put over the middle section with the teeth still there, but it wasn’t working out too well and also seemed to be causing fistulas, so my surgeon pulled the three teeth that were there, under an aesthetic and the bridge was put in permanently and looks awesome! Myhydrocephalus was caused by aqueductal #stenosis. This is when the aqueduct of #Sylvius is narrowed which prevents #cerebrospinal fluid from moving from the third ventricle in the brain to the fourth. This causes a buildup of pressure in the brain, which is dangerous. This is corrected by putting in a V.P. shunt. It’s a long flexible tube with a valve – one end is placed in the brain and then the tubing is the tunnelled under the skin to the abdominal cavity. This is done so that excess cerebrospinal fluid that causes build up of pressure can be drained from the brain into the abdomen, and can the be reabsorbed by the body.

Today, a shunt is put in when a baby is a few days old – the procedure is even done on preemies! it’s important that the procedure is done as soon as possible to prevent brain damage caused by the increased pressure. My shunt was removed 18 years later.

It had moved out of the ventricle, as it seemed my hydrocephalus was in remission. It is very rare that this happens, but it does sometimes. I was shunt-free for three years but did require the occasional lumbar puncture to relieve pressure. In February 2015, though it was clear that I needed the shunt. My ventricles were big again. So my neurosurgeon put in a new V.P. shunt, and I’ve been fine ever since! My procedure was done at 9 months. The doctors were too scared to perform brain surgery on a young baby. I am lucky though because I did not suffer brain damage. However, it has been suggested that the reason I have nystagmus is because of pressure on the optic nerves which caused damage.

Nystagmus is a small price to pay though – there are children who live in impoverished areas who have it far worse! With my nystagmus, the first doctor my Mom saw, she was told that I would never see anything smaller than the big ‘E’on the Snellen chart! Thankfully my parents got a second opinion! What everyone did agree on though, was that I would not be able to read normal sized font without the use of magnifiers…well, I proved them wrong!! I read normal sized font without magnifiers and I am a bookworm who can happily read for hours. The only big limitation I have is that I cannot drive. I don’t really have great peripheral vision, and that’s rather problematic for driving. The other thing that is possibly caused by my late shunt is low muscle tone. It doesn’t affect me too much, as I do biokinetics twice a week, and the rest of the days I do a lot of muscle strengthening and weight training exercises at home.

Where it does affect me is with handwriting – my hands get tired very quickly. This is not a problem though, as I attended a typing course and learnt to type with all my fingers so I can type really fast! In high school, I got a concession to type all my classwork, tests and exams – and the same at university as well. I’ve also had jaw reconstructive surgery. For the first surgery, rib was harvested and used to build what was missing of my left jaw. This surgery was unsuccessful as the graft disintegrated after a few years – it sometimes happens with this surgery. I had that op when I was 7. By the time I was 15, we had moved to Joburg and I had a different surgeon who is a professor of maxillofacial surgery. He decided to redo the surgery, this time using medpor – which is also known as synthetic bone.

They shape it so that it is an exact fit. It is now 11 years later, and that graft is still holding. Another big reconstructive surgery I had was for my cheek – it was important,because it provided the foundation for and ear to be constructed for me. Without it, there would be nowhere for the ear to sit! The story of this surgery is a bit funny! Some of my cheekbones are missing, so there was kind of a hole covered by skin, and that needed to be filled out. So what Prof needed was something to fill it- that something was fat. And a good place to harvest that fat was…..my bum!! so I have bum fat in my cheek!! The other funny thing was post-op,to hold the graft in place while it healed, he sewed buttons to my cheek – as in buttons you use for your SHIRT!! The last reconstructive (although I would call it constructive!) surgery I had was for my ear. As I mentioned above, I was born with a very underdeveloped left ear.

There are a few options for patients with this condition: you can get a prosthetic ear – it will basically be a mirror image of your other ear, you can get a medpor ear- which will again look pretty similar to your other ear (but unlike when it’s used for jaw surgery, when it’s placed under the skin for ear surgeries there tends to be a lot of complications and in quite a few cases rejection) or there is the option I went for, which is where a doctor takes rib cartilage from your bottom three ribs (it’s those ribs because it has a nice curve just like an ear does) and sculpts an ear for you – it is done over two operations. Your ears have fully grown by the time you’re 9,so the doctors like to wait until then before doing anything reconstructive, however I was 18 and 19 when I had my surgeries done.For the rib cartilage option, to get a good result, you need a surgeon who has made a career out of doing these operations, otherwise the result is not good. As yet, we do not have one of these in South Africa, but we have a brilliant doctor from Austria who comes up twice a year and is training a group of South African doctors!! Even internationally, there are only a few doctors who are very good at this technique.

I went to Dr Francoise Firmin in Paris I chose to go with the rib cartilage option, because I wanted an ear that was ‘part of me’, that was not synthetic. I’m glad I did and am very happy with the result, even if it does not look exactly like my other ear. My reconstruction was done in three stages – it is usually done in two, but like I said before, yours truly is a complicated patient!! Before my first op,Dr Firmin took a piece of transparency (you know, like the ones used for overhead projectors back in the day?) but the size of an ear, and traced my right ear. In theatre, cartilage was harvested from my bottom three ribs on the right. Dr Firmin then flipped the transparency so that it was a mirror of my right ear. She then sat for two hours and carved the rib cartilage so that it would match my right ear! She then placed a piece of cartilage back into my chest for use in the second op.Once this was done, she removed my little ear on the left – in some cases parts of the little ear can be used, but in my case, there wasn’t much, so it could not be used.

A pocket was created for the new ear. Then, special drains are put in, which creates suction so that the definition of the ear can be seen.The drains are removed after three days. Everything is then sutured. After this op,the ear looks like a 2D ear.

The second op is much simpler. The little piece of cartilage that was put back in the chest is taken out. It is then put behind the ear to lift it up to make it a 3D ear. Skin is then harvested from the skull, as it is the same colour as the ear. This is then used to cover the back of the ear. Usually during this op, Dr Firmin also creates the ear lobe, and for girls that want it, pierces the ear. But for me, she felt that it would not be a good idea to do the ear lobe in this op. So for my third op,an earlobe was created and pierced (yay!(. and the ear was lifted a bit more. My second and third ops were in December of 2012 an 2013 respectively. December in Paris is winter!!! So freezing! Think 4 or 5 degrees – South African winter gear is not made for that weather.

Despite the arctic -as we South Africans would describe those temperatures- weather it was still a pretty amazing time to be in Paris. They go all out with Christmas decorations. Unfortunately for my parents, they had a hard time getting me to be a good patient!! For those who know me, know that I do not know what rest means!! Who has time for rest when there is so much to see? However, they did draw the line at Euro Disney – but luckily I had been when I went for my initial consult with Dr Firmin. To help with my hearing, I have Something called a Baha – or Bone Anchored Hearing Aid. How it works is that bone is porous, so it is a good conductor of sound. So, Doctors implant a titanium implant into the bone, then an external titanium screw in my case (some people have a magnet) is attached to the implant.

A sound processor clips on to this. An external sound processor which is the actual Baha attaches to this – this amplifies the sound. Now I can hear with “two ears”! I got my first #Baha when I was 17,and will never forget my first movie with two ears – it was Avatar, ant it was amazing!! My Mom calls me bionic. But two years ago,I updated to a new Baha with Bluetooth that connects to my phone,so now she says I was only half-bionic with the first one, and am now fully bionic!! My most life-changing medical condition is my congenital diaphragmatic hernia (CDH). As the name suggests, I was born with it. However, it was only really discovered and corrected when I was 21 and complications from it nearly killed me. However, It had been showing up on scans for many many years. I was also symptomatic. I had severe #reflux, shortness of breath and severe abdominal pain. The symptoms were dismissed as stress, depression,

an unhealthy lifestyle (I had a big tummy despite eating small portions!) and IBS – however my gut feeling told me the doctors were wrong. I mention this not to show resentment towards the doctors that did not take me seriously, but I want patients in a similar situation to speak up more and seek out second, third and even fourth opinions.

The funny thing is, when I had gone to France for my ear ops, the hernia WAS picked up.A 3D scan is done pre-op to make sure it is safe to harvest the cartilage. Usually if it is the left ear, Dr Firmin takes the cartilage from the left ribs – she said she couldn’t in my case because there was a massive #hernia, hence her taking from the right. We tried to get those scans here, but with red tape it didn’t happen. When we got back after the first op,we asked for a 3D scan, but my #gastroenterologist refused! For my 21st birthday, we went away to Mozambique for a long weekend. On my birthday – the 11th April, I got very sick, with intractable vomiting (uncontrollable vomiting), with a very distended abdomen, high fever and a bulge around the diaphragm area. There wasn’t a hospital where we were, but a clinic. The nurse thought I was pregnant! I managed to get an anti-nausea injection there and they tested for malaria which was negative. By one in the morning it was so bad, I asked to go to a hospital – which was half an hour away.

People here complain about lack of resources in our government hospitals, but that was the most bare hospital I have ever seen!! no ruses equipment, no monitoring and the doctor had to look for an IV pack! The only thing he could do for me was give me #maxilon via an IV #cannula – no re hydration fluids or anything. By six that same morning the situation was even worse. The decision was made to get a flight back home the same day, which thankfully there was one in the evening. We also were able to go back to the clinic, where I could get a #dextrose drip to try to re hydrate me. I also got another maxilon injection. When we landed we went straight to Morningside Clinic. I went to triage. As soon as the nurse put the monitors on meI was assigned as a Red or P1 patient. You do not want this- this is usually reserved for patients who are unresponsive and need to go to the resuscitation area. I have never seen a nurse run so fast to get a bed. My temperature was 39 degrees, my heart rate was sitting at 153 and above without dropping, I can’t remember my blood pressure reading, but both numbers were above 100m my respiration were also high.

They call this SIRS – Systemic Inflammatory Response Syndrome, they’re the first signs of sepsis. I am so lucky I was in a hospital where people recognized the signs and acted quickly. The ER doctor on duty that night was also amazing!! She immediately ordered an IV with morphine and zofran which helped immensely, and said in no uncertain terms a nurse was to be with me at all times!! It’s so funny, my nurse needed to get something for me from the nurses station and in the two seconds she was gone,the doctor said “why isn’t anyone looking after our young patient?”and five nurses came running!! When my pain was under control she sent me for a chest x-ray. You could definitely see something was off on that x-ray. She said she thought it was a bowel obstruction, and would be putting me in High Care, and the surgeon would see me when he was done in theater. He came at 2 in the morning!! And said we would do a scan with contrast first thing in the morning. I should note that as per the stereotype of general surgeons I found him very abrupt and a bit aloof – but I do believe no matter how sick you are you treat people with respect and kindness, and I also do retain my sense of humor when I’m sick as well.

Which is exactly what I did the next morning when he came to see me before the scan! Apparently after that, he went and told My parents:“I knew I liked her, when I saw she had a sense of humor…also she understands the medical stuff so I don’t have to explain everything to her!”We’ve gotten on very well ever since,and despite him being one of those huge intimidating-looking Afrikaans guys I’ve gotten quite a few hugs from him!!! The scan showed a lot. But as my surgeon said, things needed to be done properly. The first priority was to get the distended abdomen sorted out. I was NOT happy with the solution (but it did work!!) it was to insert the biggest NG tube I have ever seen!!! I couldn’t tolerate the procedure awake, and had to be sedated with #dormicum. As soon as that tube went in! litre came out. A further litre was drained over the next 24 hours. My SuperSurgeon then explained that I had what was called a volvulus – so I had a hernia in the diaphragm (this one that they saw wasn’t even the CDH) called a #paraoesophageal hernia approximately the size of a tennis ball and my stomach had twisted (#volvulus) on itself and pushed up into that hernia. The NG tube was also helping to sort out that twist.

He wanted to do two things: firstly cal in a brilliant pulmonologist he worked with to come and see me and secondly do a gastroscopy the next day. Awesome Pulmonologist came that night. He is one of the coolest people I know. Both he and SuperSurgeon sat down with me, and explained that something was clearly not right, and this hernia was too big to have developed recently and they both thought it was congenital. They needed to do the scope to know what they were dealing with. AwesomePulmonologist also did a lung function test, and found my lung function was only 58%which further convinced him something was not quite right. The scope was done, and the hernia found was significant. The repair was planned for the following Tuesday (a week later). For two reasons: firstly I had an infection of the stomach because of the volvulus, and that needed to heal. And secondly, SuperSurgeon wanted to do the repair using Biologic mesh rather than synthetic mesh.

Synthetic mesh is made out of #gortex, which is material used to make raincoats- but SuperSurgeon felt this would not be beneficial to me, as the hernia was very big, and the chances of infection were too great. Biologic mesh on the other hand, is made by a scaffolding of pig cells, which are very similar to human cells. What happens with this type of mesh, is after a period of time, it becomes part of your own tissue. The thing is, there was a long weekend in the middle of all this, and it would take time

to organise this mesh. Surgery day comes, and I ask

SuperSurgeon: “Soooo how long is this thing going to take?”

He says: “Mmmm usually 2 hours, but you’re a bit more complicated, so let’s say 3 hours, max 3 and a half.”I wake up in ICU nice and happy on morphine:

Dad: “Guess how long the op took?”

Me: “Uh, 3 hours”

Dad: “7 hours”

Me:“Huh?”

Dad:“Ya, it took 7 hours”

Me:“Nooo, you’rejoking! Pieter said 3!”

Mom or Dad: “They found a second hernia and it was very big”That second hernia that SuperSurgeon found? THAT was the congenital diaphragmatic hernia! in his words: “there was diaphragm, and then nothing!”.

What CDH is the diaphragm fails to form properly during pregnancy, and organs from the abdomen push up into the chest. You can have a left-sided, right-sided or bilateral

CDH. I had a left-sided CDH. Poor SuperSurgeon had to fix two hernias! The organs in my chest were: kidney, spleen, gallbladder, pancreas and some bowel. SuperSurgeon had to bring down these organs as they were pushing against my left lung. And only then could he use the mesh to repair the hernias. Unfortunately, two of these organs were problematic: my kidney and my spleen. It was too dangerous to bring down my kidney from my chest. My left kidney is very small – this could either be because of Goldenhar or because it has been sitting in my chest for so long. So, the blood supply to that kidney is very short because of this, the risk of losing the kidney was very high. The kidney was and still is working well and remains in my chest.

My spleen was another story. It does not connect to another organ, it just sits in the abdominal cavity. What SuperSurgeon was hoping was that when he brought it down, adhesions would form and it would stick to the #abdominal cavity – like #velcro. This did not happen. Every time I had an abdominal scan, my spleen was in a different place! In 2016, it became a problem. after all this moving around, it twisted on itself and strangulated. This caused the organ to die. It also reherniated. Once again, thanks to the the awesome doctors at Morningside, it was taken care of very quickly. I was admitted on a Friday night, and was in theatre by 9 on Saturday morning. It would have been sooner if SuperSurgeon knew what was wrong. The problem was that I had a #cystoscopy on Wednesday, and he had initially thought something had gone wrong with that surgery, but he did know something was wrong, because my CT scan with contrast looked wrong.

Once again waking up in recovery was hilarious! I woke up in recovery, and there was both SuperSurgeon and his very cool #anaesthetis– and I’m thinking “what the hell?”(pardon my French!) because it’s usually just his anaesthetist, and then he comes later. The first words out of his mouth were: “It was your spleen!”and I say: “Woah, wait! COME AGAIN?“Jaaa, remember what happened with your stomach? The same thing happened with your spleen! I’ve never seen it happen with a spleen before!”The only question I had was what it looked like “Mmmm you know, it was very big and purple, because it was full of blood”. It explained a lot though, because I had a very distended abdomen and was in so much pain that I couldn’t walk!! It was the most painful operation I’ve ever had, and it took a while for the doctors to get the pain under control. Nevertheless, I still only spent 3 nights in hospital and was back at varsity after a week.

I wrote exams a month later and even though I still had some pain, got high distinctions for both!! It would be a disservice to both myself and others to tell my story without mentioning that I have experienced bullying. Particularly in my primary school years. Unfortunately, this was not only from other children, but also from teachers. My Mom brought me up to believe that I am a strong person, and that I should be proud of who I am and how far I have come. Also, should be proud of my scars. It is important to remember that people bully because of physical appearances are superficial, because they are only focusing on what is on the outside. It is far more important what is on the inside. It is more important to be a kind person, who is empathetic and who treats others with respect. Unfortunately, even having grown up with these values the bullying has affected me.

It is hard when people attack something that you cannot change. I have had to attend many years of therapy to help me build my self-esteem and learn to deal with stares. The last thing I would like to mention is medical trauma. A lot of us Rare Warriors go through many many medical procedures – these range from simple things like IV insertions to more complex things like surgeries or even being resuscitation. We go through these things because we have to- because it is only way to get better or for some warriors who can’t get better it helps to improve their quality of life. We are strong because of all of this. However, we do start accepting these things as normal. But they are not. What I realized after what I call my“hernia saga”is that these repeated medical procedures start to affect us psychologically. They are not only physical traumas, but also psychological traumas.

I developed PTSD after that hernia op. My therapist explained that that op was the last straw, because I was not dealing with the fact that it is hard mentally and emotionally to go through repeated surgeries and medical procedures. What I want to say to Rare Warriors is that it is okay not to be okay!! It is also okay to get psychological help!! I have had 44 surgeries. Yes, it has been VERY hard. But at the same time, because of everything I’ve been through I’ve had experiences that maybe I would not have had, had I not been through that. I have also met some amazing people because of this journey, and for that I am thankful! I have learnt the true meaning of kindness and compassion – because it has been shown to me on many occasions – that is far more important and far outweighs any of the negative experiences.

I would also like to add,in case this makes it to any of my doctors and nurses, from the

bottom of my heart a HUGE thank you for the love, care, compassion and kindness shown to me over the years! Thank you for treating me like a daughter! Now for some photos: On the operating table at six weeks:


Before lip revision:


Post – op:


After I got my bridge:


After first ear op:


Before ear surgery:


After the first ear op:


Day of diagnosis of hernia – 13th April 2014- I don’t know how to look sick!!


After the hernia saga, a friend and fellow Johnny Clegg fan gave me the nickname Impi. It means many things, but the reason I was given the nickname is because one of the meanings is“Warrior”!!

Aptly this photo was taken before a Johnny Clegg concert!


I graduated in May this year with distinction despite having three major surgeries during the course of my studies – the hernia repair, the V.P. shunt insertion and the splenectomy and two minor surgeries – appendicectomy and repair of a small fistula!!


9 views0 comments

SUBSCRIBE TO OUR NEWSLETTER

FOLLOW US

  • Facebook
  • Twitter
  • YouTube
  • Instagram
  • LinkedIn

PHYSICAL ADDRESS
Block 7, Ground Floor, Stratford Office Park, Valley Road, Broadacres 2021

 

POSTAL ADDRESS
Suite 135, Private Bag X43, Sunninghill, 2157

TELEPHONE  +27 72 476 7552

EMAIL ADDRESS hello@rarediseases.co.za

© 2023 by Rare Diseases South Africa NPC.