Cystic Hygroma / Lymphatic Malformation Information

This is some information if you want to know more about the devastating condition that Ava had.

I want to start by saying that we have had many people give suggestions and ask questions both before and after Ava died. The most common things we have heard is "can't they just drain the cyst either in utero or after she was born?" and "I've read they just do a surgery to remove the cyst" If it were this simple don't you think we would have done this? So clearly it is not that simple. 

In a nutshell, Ava's lymphatic system did not develop and this puts strain and the rest of the body so that other parts don't work as they should either, mainly the lungs and heart, the lungs can't develop as they should due to fluid and the heart stops working due to fluid and heart failure. Hydrops is common in babies with cystic hygroma. Hydrops basically means fluid accumulates everywhere throughout the body. It is considered "incompatible with life". Hydrops is also a sign/indicator that something is very wrong, it doesn't necessarily have to be cystic hygroma, Hydrops can develop on its own and is also common with other serious conditions.

Of course the severity and location of cystic hygroma differs and there are many babies and people who survive a pregnancy and live with it. Many of those people have multiple surgeries throughout their life and painful treatments. Depending on where it is located it can be disfiguring and can also affect vital organs and structures such as the airways which would mean a tracheostomy to secure the airway and depending on the severity ventilators and other life support machines may be needed to keep the baby / person alive. Surgery can sometimes remove the whole hygroma which means there is a good chance it will not grow back, however a lot of the time complete surgery cannot be completed as it would affect other areas - eg, could paralyse the person etc. 

From what we know about Ava from ultrasounds before and by looking at her after she was born aswell as the initial autopsy report, hers was extensive and as bad as they come.  Babies that make it further in the pregnancy are born by a procedure called an EXIT caesarean at a major specialist hospital - these are done approximately once every 10 years from what I have been told in Australia as it is very rare. It means that the cut is made much larger and before the baby is even completly born (baby is still attached to the placenta ) a team of specialists try to secure an airway and put the baby on life support. It is dangerous for both the mother and baby to be born "naturally". This is often performed by 33-34 weeks gestation as the cysts get larger with the baby and can also put the mother into early labour because of the extra size and weight of it. Mirror syndrome can occur and this means the mother gets very sick aswell. There are other complications aswell that can happen towards the end of the pregnancy too. Women often develop polyhydramnios - too much fluid surrounding the baby. 

Quite often there is a syndrome behind the development of a cystic hygroma. The most common being   Turners Syndrome, Down Syndrome, Edwards Syndrome and Patau Syndrome. Structural defects in the heart can also be a cause. So far we have no idea why Ava developed hers and we probably never will know. At the moment it looks like hers is isolated and for unknown reasons her lymphatic system didn't develop and this caused issues with her little heart and lungs - all being vital to life! The lymphatic system is so important and also has many immune and infection consequences. 

Visually Ava's hygroma grew all the way around her neck, it was up the back of her head and neck and all the way down her back.  

The autopsy report talks about it being posterially and laterally extending to thoracic wall 
laterally. She had bilateral pleural effusions and oedema mediastinum and contents, left superior vena cava with dilated coronary sinus. 

The following link gives some information that's explained in simple terms: obviously for people who live with it. I hate that Ava's was so severe, my poor baby never had a chance.

http://www.gosh.nhs.uk/file/927/download?token=3-sBiNEA

Another link:

3http://www.ncbi.nlm.nih.gov/pubmed/1586333

One of the things I find really hard is not knowing why? Why did she develop it in the first place and why was hers so severe? Why couldn't hers have been the type to resolve or even be managed with treatments. Why on earth would a babies lymphatic system not develop?