Treating Down Syndrome

Let me be clear – Down syndrome (T21) is not something that can be “cured”. When people ask things like, “How severe is her Down syndrome?” I’m tempted to respond, “Well, you could say that it’s as severe as possible. It’s also as mild as possible.” A person either has it or they don’t. (This leaves out of the equation the types of Ds, but for our purposes we’ll assume it’s Standard Trisomy 21, which is what most people are familiar with, and also makes up over 90% of the Ds population.) It’s true that there is a broad range of manifestations and a range of symptoms (for lack of a better way to put it), and I know that’s usually what a person means when they ask that question. So, when I say “treatment” of Down syndrome, I am not implying that it can somehow be cured. I am saying there are things that can be done to reduce the effects that T21 has on an individual.

I will make another disclaimer before I continue, though it’s sad that I have to do this. Here it is – I love Lily exactly as she is. If I could go back in time and be given the choice: Lily or a different (but typical) child, I would choose Lily. Every.Single.Time. I wouldn’t change who she is or how she was made. However, I would do what I could to make her life easier, improve her cognitive function and chances at independence, as well as ensure her greater health and protect her from Alzheimer disease. There are those who criticize any kind of “treatment” of T21, those who say parents like me are trying to “change their kids”. To those parents, I would say I hope I don’t catch you playing classical music in hopes of increasing your child’s cognitive abilities, nor putting face cream on to prevent wrinkles (though that is purely aesthetic and absolutely none of the treatments for Lily are intended for that purpose). I hope you aren’t giving vitamins to your typical kids in order to boost their immune system. Or visiting the orthodontist for a braces consultation. The point is, parents like me fully and completely accept our kids for who they are and love them regardless of any milestones reached. We also want to empower them to reach their own individual potential, which is much higher than most people give them credit for. My philosophy is to set the bar really high. If she doesn’t reach it, that’s fine. However, she won’t have any chance of reaching it if we don’t try. I know even that is a philosophy that some disagree with, and that’s fine.

Now that we’ve gotten all that out of the way, before Lily was even born I started researching. In truth, I was pretty much a mess after the prenatal diagnosis. If I knew then what I know now – that everything would be totally ok! – I would have done even more. I was slightly in denial I guess, but had accepted the diagnosis enough to want to start doing what I could, and so after some research I started taking choline. Again, in retrospect, I wish I’d taken a higher dose and kept track, but I was kind of on auto-pilot back then. Fast forward to after she was born and the research really kicked into high gear. What I know now is that T21 is treatable. I have several warrior mamas to thank for that realization. I won’t name them here because I know I’d miss some. There are some amazing blogs and groups out there though that have guided me on this path, and I will be forever grateful. When Lily was still an infant we began with TNI (Targeted Nutritional Intervention). I started slow and as I learned more and became more comfortable, increased what we were doing.

We all know that correlation isn’t causation. And, of course N=1. So, I can’t always directly attribute specific improvements with new therapies, supplements, etc, and I’m not always super patient with waiting and introducing new things one at a time. With supplements I am cautious, but I might try more than one therapy at the same time. Usually though, I have a pretty good idea of what I can credit for certain improvements.

There are a number of facets to her treatment, and I would loosely categorize them as follows:

• Physical structure – Let me be clear here, when I talk about structural changes, I am in no way referring to making her more “attractive,” but am referring to structural changes that may affect appearance but are always intended to address underlying health. I’ve shared earlier some other things we did, like making very conscious choices about bottle type, introducing a straw early, never using a sippy cup, etc. These relate to oral motor skills, as well as physical structure and development. Last summer (a few months before she turned 4) we did rapid maxillary expansion (aka palate expansion – a hot topic right now in the Ds community). It was a challenge to find someone who would do it for us because most dentists/orthos want to wait until kids are older. However, there are many benefits to doing it early. I compiled this document talking about the benefits of early palate expansion for kids with T21. The purpose was to convince a dental professional to work with us. Ultimately it was our regular pediatric dentist who agreed to do it! I could write an entire post on this topic, but I will save that for another day. I will simply say that I believe it was beneficial for Lily, and I’m very glad that we did it. There is an obvious difference in her palate/bite/face if you look at before and after photos.
• Nutritional
  • Diet – I believe diet is the foundation upon which all other treatments rest. I have talked a lot about this on my blog, so I won’t dwell on it here. We did the GAPS diet for about a year, and are now simply gluten/dairy free. We also eat organic when possible and try to limit processed foods, though I’m sure we could do better. In years past, I was much better with this!
  • Supplements – This is what is usually meant by TNI. Lily’s current supplement regimen  includes Nutrivene-D – she swallows capsules, but we used powder when she was little. I simply mixed it into a smoothie. She also gets additional vitamin D, iodine, PCP, iron, probiotics, and fish oil. These additions are based on labwork, so I am sharing for information, not to advise anyone on what to give their own child.
• Therapy – We took part in our county Early Intervention program until Lily turned 3. At that point our options were to enroll her in the special education preschool program or opt out of receiving benefits. I know that many people have very positive experiences with EI, and we had positive interactions with the therapists we worked with. However, as I recall, they visited our home an average of less than once a month, and when Lily aged out of the home visits we didn’t feel that a special education classroom was the right place for her. Our heart was always to homeschool our children, and this applied no less to her.
  • Neurodevelopmental Program – When Lily was younger we briefly did some private speech and occupational therapy. However, as nice and helpful as these therapists were, I always felt something was lacking. I wanted a more comprehensive and aggressive approach. I had heard of Neurodevelopmental therapy and wanted to try it long before we actually did. I got hubby on board and we had our first evaluation (with ICAN, as I’ve posted before) in 4/2014 when Lily was 2 1/2 years old. I remember as we were waiting to see Marilee, hubby and I were both nervous, wondering if we were being sold “snake oil.” Once we got into the room and started talking to her, it was like a breath of fresh air. She put none of the stereotypical limitations on Lily – either subtly or overtly.
• Thyroid – I am giving this its own category because it is SO important in the treatment of kids with T21. This is the one thing I wish we’d treated sooner. Most pediatricians, when asked to check thyroid, check TSH. Some will actually check TSH and T4. Some will even order a complete thyroid panel. However, very few will act on the information unless the numbers are extremely out of range. Lily’s TSH for example was only 1.4. Most doctors would never treat that, as it is well within the range of normal. However, most of the doctors would also look at the list of symptoms for hypothyroidism, see that it’s a mirror list of T21 symptoms, and say “that’s just normal for Down syndrome.” It’s important to understand that TSH only tells part of the story. We were blessed to find a doctor that specializes in treating thyroid in kids with Down syndrome. She is an absolute wealth of knowledge and information, and has the research to back up her opinions. Essentially Lily is classified as having subclinical hypothyroidism. What she was able to help us determine was that although her reverse T3 was technically within normal range, it was at the high end, her free T3/reverse T3 ratio was off.  This is important because “It was shown that the free T3/reverse T3 ratio was the most accurate marker for reduced cellular uptake of T4 (42).” Combined with symptoms of hypothyroid (often mistaken for being “just Down syndrome”) we knew that we needed to optimize thyroid. After doing the ONE test to determine what kind of biomedical treatment might be possible to address her RT3 and T3/RT3 ratio. The good news was that most of her markers looked excellent (yay for validation of a lot of hard work and effort in terms of diet!). The bad news was that meant we needed to take a more direct approach to treating thyroid. She started us on a very low dose of Naturethroid. Within a couple of days we saw subtle, but undeniable, results. She was speaking in longer phrases and overall seemed “clearer” in her cognition. Her skin tone seemed a bit better as well. Though it’s still a bit yellow from all those months of mega-doses of yellow and orange veggies (the dark side of GAPS lol!) Her preschool teachers also commented, totally unprompted, that Lily was suddenly more engaged, calling out to friends by name, and answering questions at circle time.
• Miscellaneous – There are other things that we have tried and continue to do that I’m not quite sure how to classify.
  • Doman style crawling track, brachiation ladder
  • Listening programs: Samonas, Safe and Sound, Soundsory
  • MNRI and other reflex integration therapies
  • Hippotherapy (not doing this currently)
  • Physical activity, like running and jumping
  • CST Chiropractor
  • Essential Oils
• Research – I was initially going to list individual studies and information for the supplements we are giving. However, to do so would be extremely time consuming.  At some point I’d like to create my own list for my own reference. In the meantime, here’s a link to quite a few studies related to T21.