12 Days of Christmas – Day 8
On our 8th Day of Christmas, we hear all about Mila, who is the daughter of one of our Trustees.
Mila was born a healthy and beautiful baby. We were thrilled as we had experienced several miscarriages while trying for our second child. I always wanted to have two daughters, Gil didn’t really mind so I felt really grateful and complete. Mila’s arrival was a blessing.
The most we stressed about at that time was the 2 nursery/school drop-offs/pick-ups as Mila would be in nursery for 3 years until starting school with Ella, which was at a different location. After those 3 years we could just relax and have only one route to make. The girls would go to the same holiday camps, read to each other, sing together and do sports together.
…least did we know….that these things would become the least of our concerns.
At first, Mila was a very easy baby, eating and sleeping well. Around 6 months old, Mila was constantly congested and not progressing at the same pace as her older sister or peers. Mila underwent an adenoidectomy to help relieve her congestion but still struggled developmentally. We thought that she would catch up after she fully recovered from surgery as we were reassured that there was nothing wrong with her development. Someone even told us : ”You have too high expectations from your child”…which was obvious non-sense.
Mila indeed progressed after the surgery, but she was still not crawling, not repeating words, her play skills were behind, and her core strength was very weak. We decided to take Mila to a neurodevelopment specialist who suggested an MRI which revealed “a change in white matter”. The Dr. gave us a paper from 2003 (we were in 2019) about Leukodystrophies and told us not to look online as it is “horrible and I couldn’t tell you exactly what disease Mila had”. We needed to wait for the genetic testing to confirm which disease she had.
We were in total shock! The first thing we did was of course google Leukodystrophies as we never heard about it before. The most terrible words popped up : NEURO-DEGENERATIVE, SHORT LIFE EXPECTANCY, DIES BY 9 YEARS OLD, NO CURE OR TREATMENT, SOME DON’T LIVE PAST THE AGE OF 5.
It was like someone took our hearts in their hands and cut them into pieces and then started to punch us repeatedly in the guts. OR you can compare the feeling to being hit by a train and feeling every bit of your body aching. We felt at that moment that we have lost of our child!
The next couple of months were agony whilst waiting for the genetic testing results, it was like being constantly tortured 24 hours a day and 7 days a week.
On August 7th, 3 days after Mila’s second birthday, we received the genetic confirmation: Mila had Alexander disease.
Our world crashed that day, our brains and hearts went into a direction that we later on discovered was unnecessary. We didn’t have all the information needed at that time to make a full assessment nor did we have the mental space to think clearly on what to do next.
Determined to learn more, we read everything we could about AxD. We talked to Jenny at Elise’s corner who was able to offer comfort and support. We also learned about Dr. Waldman and immediately decided to travel to the Children Hospital of Philadelphia in the US. That visit and meeting with Dr Waldman changed everything for our family.
We came out of there more hopeful as we could go to sleep knowing that a lot of people care about finding a treatment, and they are working very hard to make it a reality. We understand that AxD is a spectrum, and each child will develop differently. It is nearly impossible to forecast any kind of definitive path or life expectancy. All we can do now is enjoy our child and provide as much therapy as she can take.
Mila has a magical smile and a magnetic personality! She is a happy little girl who attracts attention wherever she goes. She loves music, nursery rhymes, chocolate, playing with her sister, Ella, and kids of all ages. She also enjoys watching Mr. Tumble, Peppa Pig and Blippi. Whether Mila is fixing dinner in her play kitchen or collecting “stuff” in her numerous bags including mum’s bags (purse,) she does so with determination! Mila knows what she likes, and it is tough to get her to change her mind.
Currently, Mila does not need many medical treatments apart from her OT, physio, and speech therapy. She has had a couple of seizure like episodes, but no major incidents. After more than 2 years living with this nightmare diagnosis, we feel better equipped to deal with any issues that may arise and are comfortable challenging medical professionals here in the UK if something is not right.
Living with Alexander Disease is an extremely difficult journey, and most people don’t often understand what we are going through. The disease has changed our outlook in life and made us more aware of life fragilities. I definitely can say that Mila is teaching us valuable life lessons on a daily basis. We know that we may (or hopefully may not) face hard times in the future but for now that does not matter, what matters is enjoying our little Mila and her sister and live today to the fullest.
It takes a village to raise a child but it takes a town to raise a child with complex needs. We are very grateful to be supported by our own town… You know who you are!!