For two families, just that happened. Both Holly and Sarah knew certain things were not right with their daughters. Numerous small health concerns kept rising up, and each time, they were dismissed with the most common answers. For Holly, the answers she was given for the cause her daughters constipation and projectile vomiting did not sit right. And for Sarah when her daughter ended up having a very rare congenital subglottic stenosis, she too questioned if something else could have caused it. But who were they to question doctors? They trusted their opinions. They trusted that they knew best.
|Lili, age 3|
This is more common then you would think, late diagnosis of this form of Down syndrome. Both girls had developed normally or normally enough, and did not have a strong "look" of Down syndrome. The only seemingly thing the extra chromosome affected with these girls at this point was their health. From what we know about mosaic Down syndrome, a person with mDs has two different percentages- a skin percentage and a blood percentage. Research shows those with a high percentage of trisomy 21 cells in their blood compared to their skin are at a much higher risk of being born with a heart defect or possibly have blood related issues such as leukemia.
For both of these girls, they were diagnosed with leukemia after it had taken hold of their bodies. Possibly, if they had known that they had mDs, although that could have in no way prevented leukemia, it would have given them a chance to have caught they had leukemia much sooner, as one of the health guidelines for those with Down syndrome is to be checked for leukemia yearly. Although, even with that testing for those with Down syndrome, it can be missed if leukemia developes in between the yearly testing. None the less, it could be caught sooner since doctors are aware to look for it in those with Down syndrome. They wouldn't write off normal sicknesses as no big deal, as with Hannah frequently getting sick, if she had her Down syndrome diagnosis. The doctor would have been more concerned from the start. We are going in later this week for Fiona's annual blood work that will check her white blood cell count and her thyroid levels.With the likely hood of those with Down syndrome developing leukemia, it is normal protocol to test for it. But without a Down syndrome diagnosis, this blood work isn't part of a regular child's check up.
The biggest issue is that there were signs that pointed to these girls having mDs, but the doctors were not tuned into them, because many doctors look for physical characteristics of Down syndrome and mosaic Down syndrome often does not present many of the typical characteristics. All of those minor health issues that the girls had, minor delays that were written off as being okay, are associated with chromosome abnormalities.With mDs being as rare as it is, the doctors may have dismissed it as so unlikely to even bother testing for, or even possibly, they didn't even know there was a mosaic form of Down syndrome. From talking with people I am connected to through IMDSA (International Mosaic Down Syndrome Association), many families mention how their doctors didn't know about it, and some even were told that mosaic Down syndrome is not real. Quoted from one parent, her doctor told her "You either have Down syndrome or you don't. It is not possible for only some of the cells to have it". Well, there is a whole community out there that have it, with karotypes to prove it. And for people like Hannah and Lili, having misinformed doctors led not only to a late mosaic Down syndrome diagnosis, but a late leukemia diagnosis.
|Hannah, age 12|
Thankfully, after a tough battle, Hannah is now 8 years and 8 months in remission. Little Lili, just started her battle this past April and is still fighting. And Sarah is dealing with the shock of both diagnosis's. Going from perfectly normal, to cancer and Down syndrome is quite a lot to take in at once. I remember the swirl of emotions and worries that went my mind when I found out Fiona had a life threatening heart defect and then a few weeks later that she also had Down syndrome. The fear for your child's life and the fear for her future. And a whole lot of paper work and research and new terminology put in front of you. Needless to say, both Lili and Sarah are in my prayers daily.
This is the exact reason why IMDSA exists. To help prevent families from being put in a situation where doctors miss a diagnosis out of lack of information. They currently have put together pamphlets to send to doctors offices, that are just waiting the final approvals. And not that we parents need anything else to worry about, but if your intuition is yelling at you that something just isn't right, listen to it. Fiona's cardiologist gave me that advice at our first visit, and I'll never forget it. He said, as her mom, I know more about her then the doctors, and I need to speak up if something just doesn't seem right to me. When it comes to your child's health, don't be afraid to be crazy- you really are their only advocate.
Our local Buddy Walk is coming up, an event the NDSS does around the country every year to help raise awareness and support for those with Down syndrome. The past two years we have not only walked, but done a modest fundraiser for NDSS. We have so many family and friends who are not local to walk with us, but still love to contribute. This year, in luei of doing the fundraiser for NDSS, as those walking with us will be donating to NDSS, we are asking all of our out of town friends and family that want to be a part to donate to IMDSA. This orginization has really grown in my heart the last few months, and I find what they are doing to be highly important for families like Hannah and Lili's. Or more should I say, so that no more families have to have a late diagnosis like Hannah and Lili. If you would like to make a donation in Fiona's name, click on this link.
IMDSA posted this photo of Lili to help spread awareness about the importance of this diagnosis. Please visit their Facebook page and help share this photo.