When Tracy Milne's young son is diagnosed with a rare disease, she finds hope in community.
Tracy’s youngest son was diagnosed with lymphangiomatosis in 2008 and her journey began to find a way to help her son. This led to her discovery of the LGDA and the start of an affiliation to help and support their work. Between 2012 and 2022 Tracy was the founder of the LGDA UK (formerly known as the Alfie Milne Lymphangiomatosis Trust) the charity focus being to raise vital funds to support global research efforts. The LGDA UK dissolved as a registered charity in July 2022 having raised over £325,000. Prior to accepting the role of LGDA Programs Assistant in May 2020, Tracy served as a member of the LGDA Board of Directors for 3 years. She continues to serve the LGD Alliance Europe as a Patient Support Coordinator for the European Community and recently joined the organization as a General Board Member.
Transcript
I'm mom to two boys, a teenager and a young adult, and it only seems like yesterday they were both babies.
I'm from a small village on the outskirts of Aberdeen and Scotland. After the birth of your children, there's that moment where the midwife hands you your baby and you wait for their reassurance that everything is okay. Ten fingers, ten toes, and everything in between looks good. Nothing prepares you for the rush of love you feel for your baby and the overwhelming sense of responsibility you now have to keep that child safe and well.
Alfie is my second child and, like his brother, I look forward to him reaching all of those important milestones. I'm excited that Lewis has a baby brother to play with and share his life with.
In 2008, Alfie is around a year old. It's a warm day so I dress him in shorts and a t‑shirt. After dropping Lewis off at nursery, we head to a friend's house for coffee. It's just a normal day.
We sit outside so we can enjoy the warm weather, not always guaranteed in Aberdeen, so we are making the most of the sunshine. Alfie is sitting in his push chair having a snack and me and my friend sit next to him chatting and catching up on what had been happening in each other's lives.
Halfway through us making plans for the weekend, she asks, "Is half his leg swollen?"
I turn to look, puzzled by her comment, but, sure enough, his leg is swollen and I can't believe I hadn't noticed it myself. He wasn't crying. It didn't look like he'd been stung as there were no red marks.
On taking a closer look, I can see that the swelling started at the very top of his leg and went all the way down to his toes. Something was obviously wrong, so I contacted the GP and managed to get an appointment for that very afternoon.
At the appointment, the GP checks Alfie over and is happy with his general health but is also puzzled by the swelling. We leave the surgery 10 minutes later with the promise of a referral to the local children's hospital for further investigation. I'm told not to worry, but it's very hard.
The appointment at the local hospital finally arrived and, although apprehensive, I'm keen to see the doctor to find out what is wrong.
On arrival, we are sent to get an x‑ray of Alfie's leg and we are now sitting in the reception area waiting to be called in to see the doctor. There are a few toys scattered around, so I distract myself and calm my nerves by picking up a book and starting to read to Alfie.
Finally, the doctor calls us in. He introduces himself as Mr. Barker, one of the orthopedic surgeons. And he says, "I've looked at Alfie's x‑rays and I have a suspicion, but I cannot be sure as I'm not an expert in this field. So, before we get ahead of ourselves, I want to refer you to a colleague of mine in London at Great Ormond Street Hospital.”
Now, I don't know much about hospitals, but I do know that Great Ormond Street Hospital is a big deal. It is one of the largest children's hospitals in the UK and known for treating children with complex conditions.
Mr. Barker goes on to say, "If my suspicion is correct, they will be able to give a formal diagnosis. Please try not to worry."
A few months later, we make a 500‑mile journey from Aberdeen to London. We have two full days of appointments planned with different specialists and multiple tests. At the end of the second day, we are taken to a small room and introduced to Professor John Harper, a dermatologist.
The room is filled with some of the doctors we have seen over the last couple of days. My husband and I are invited to sit down and the professor sits in the chair opposite. Despite the room being full of people, it is very quiet and I can hear my heart as it hammers against my chest as we wait.
After a few minutes, the professor starts to speak. He begins, "We can't be 100% certain without doing a biopsy, but we believe your son has a disease called lymphangiomatosis." He paused, and I think it was to give us a moment to process the news.
Then he went on, "Your son's disease is very rare, with only a handful of children in the UK with the condition. Sadly, there is no cure and only a few treatment options available. Our plan is to monitor your son to see how the disease presents itself over time.”
I'm not sure what I expected, but it wasn't this. Okay, we have a name, but what does it mean?
Professor Harper goes on to say, "It's a rare type of tumor that affects the lymphatic system. So little is known about the disease, and as it affects each person differently, it is hard to predict how the disease will manifest."
As we leave the room, we are handed an A4 sheet of paper with the title Lymphangiomatosis, together with a short description. As I scan the text, the words 'Rare type of tumor', 'High mortality rate', and 'Unlikely to reach five years of age' all jump from the page.
Over the next couple of years, the disease progresses. Eventually, Alfie starts treatment. It's a very difficult time. He is in a lot of pain and discomfort. He isn't reaching those important physical milestones, still crawling when he should be walking, not gaining weight. Trying to keep my son safe and well has taken on a whole other meaning.
I find it difficult to talk to my family and friends about my fears. I can't bring myself to say them out loud. I try to stay focused on the here and now and not allow myself to think about the future and what that might look like. It's the only way I manage to get through each day.
I can feel the strain this is having on my marriage and relationships with friends. Trying to stay on top of medical appointments, coping with hospital admissions, keeping track of medications and procedures, whilst juggling caring for the family, keeping house, paying bills leaves little time and energy for anything else. This emotional roller coaster is my new normal and I am struggling.
Amongst all the turmoil, life around me carries on. I receive an invitation to a birthday party. I'm not keen, but my family tell me to go. They tell me it will do me good to be out and be amongst friends.
On the night of the party, I pull up outside the venue and I'm already feeling anxious. I don't like being away from Alfie for too long. I worry that something will happen and I'm not there.
I step into the room full of people. They are all smiling and laughing and having a good time. I go over and join my friends and they are talking about everyday lives: the school run, gossip in the playground, their jobs, holiday, normal things. I don't feel I have anything to contribute, struggling to match their enthusiasm when talking about making plans for the future.
I watch as everyone chats away and join the company of others. They all seem so carefree. They seem to have purpose and direction, something I no longer feel I have. I feel alone and disconnected and I want to go home.
On reflection, that night is actually a pivotal moment of change for me. I didn't realize at the time but in those days that followed, it made me question the future and how I'm going to cope with all the uncertainty that comes with a rare disease diagnosis and the impact it is having on me. It made me recognize the need to take back some control, the need to face my fears. And to do this, I need to know what Alfie's future could possibly look like.
Up until this moment, I had only allowed myself to scratch the surface when it came to doing any research on Alfie's disease. So, I opened my laptop and, again, I typed in the word 'lymphangiomatosis'.
I started to scroll through and then something catches my eye that I hadn't seen before, the words 'patient organization’. The organization had just become a registered non‑profit in the US supporting patients and families affected by lymphangiomatosis and a disease called Gorham‑Stout that I'd never heard of before.
As I read through the information on the site, I come across an email address. Before I can talk myself out of it, I draft a quick email asking for information they can share with me about the disease and if they know of anyone in the UK I can connect with. My heart is racing as I press Send.
I don't have to wait long before I get a response from a man named Jack Kelly. He tells me a little bit about the organization and includes copies of a few research papers, disease information and the names of several doctors from around the world who have treated patients with lymphangiomatosis.
He also shares with me the sad passing of his daughter Jana from complications of the disease. My heart sinks and the feeling of fear returns.
I push myself to keep reading. Jack goes on to say he is in touch with a family in the UK and they would love to connect with me. He will make the introduction. This is the first time I feel a glimmer of hope.
I speak to the Kennedy family that same week. Amanda tells me her 12‑year‑old son James is doing okay. He lives a pretty normal life. He has to be careful and there are, of course, limitations because of the disease, but he is living his best life.
I can't believe it. James is 12. If he can reach 12 years of age then so can Alfie.
The conversation inspires me. I want to learn more, to find and connect with other families. For the first time in a long time, I feel more positive about the future.
I am beginning to understand the power of knowledge. With each person I speak to, I learn a little bit more. Each conversation makes me feel a little less isolated. The more people I find living, despite the challenges of lymphangiomatosis gives me hope.
To this day, I remain in contact with many wonderful people I met through my son's rare disease journey and I continue to meet new people as the community grows. The LGDA community is the family I never wanted, but glad to have found. Have you found yours yet?
Thank you.