November of 2009 my sweet baby girl Isabelle was diagnosed with a condition known as Turners Syndrome. For those who are not aware of Turners Syndrome: TS affects 1 in every 2,000 - 2,500 females born in the population. Thus we would expect that there are over 6,000 individuals with TS in Canada, 98% of all TS pregnancies end in miscarriage. Turner Syndrome (TS) is a condition that affects only girls and women. It is identified by a difference in the genetic make-up of those who are affected. Most girls and women have two complete X chromosomes (the sex chromosomes for females). Turner Syndrome is caused by the absence of all or part of the second X chromosome in some or all of the cells of the body.
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Girls who are missing one complete X chromosome have "classic" TS, often referred to as an "XO" or 45,X karyotype. Others are missing only part of the second X chromosome, or have some structural rearrangements of the chromosome. A mosaic karyotype refers to a missing or rearranged X chromosome in some but not all cells in the body. It is important for someone with TS to know their karyotype since different karyotypes are associated with different potential health issues. TS is not an inherited condition and, therefore, is not passed down from one generation to another. In rare cases, a family may have more than one child with TS, but in those cases the loss of a sex chromosome during cell division happened twice to the same family by chance. In fraternal twins, it is possible for one twin to have TS and the other not to have TS. Turner Syndrome occurs when a piece of genetic information gets "dropped" during division of the sex cells - or during the process of meiosis. To date, TS is not thought to be associated with environmental factors or any other factors generally associated with genetic problems.
(Thank you to Turners Syndrome sites for helpful information)
Isabelle is a happy, healthy and active girl who is ready to tackle this world. She is a spunky firecracker full of life and has a heart of gold an a smile & laugh that are so infectious and light up any room. My little girl makes me smile & fills me up with love each and everyday! Isabelle has no real features of TS other then Short Stature, which is why this dx came as a huge surprise to our Family Practitioners. It all started because we had noticed once she started JK that she was alittle smaller then her peers. So with our Pediatrition we watched her weight & height for a year. Weight gain and height were steady but very slow. So he decided to do some routine blood work to rule out "Celiac and Turners Syndrome" 2 conditions that can cause the slow growth. He was not convinced that she had these but wanted to rule them out, which was totally fine with us. I remember going home that night and googling them & saying to Tom they will be negative, she fits none of the features with the exception of short stature. 3 Long weeks later, sure enough the TS came back positive, so you can imagine our surprise & shock at this news. The only real feature of TS that Isabelle displays her her short stature. After this rather shocking diagnoses we had a ton of questions. I did alot of blaming on myself had I done the prescreening during pregancny would things have been different, what other health issues does she have that we are not aware of and on and on, I carried this weight around like a bad rash. I was devastated at the fact that my little may never have her own children! How was I going to tell her this when she was older? I felt it was some sort of a punishment, a bad dream & a million things flood your mind, which sends you on an emotional roller coaster. Although it was out of my hands and there was nothing that I could have done differently. I blamed myself, which took me up until recently to let go of & to know that it was not. It did not matter how many people told me that, I needed to figure it out on my own. I did everything I could have possibly done to protect her I ate well, slept, I did everything you are supposed to do during pregnancy. This was just one of those things not within my control. The next year would be a bunch of appointments with Genetic Counselors, Pediatric Cardiologists, ENT's, Endocrines at Sick Kids, Xrays and Renal Ultrasounds etc to make sure there was no health issue that we were missing. Our Genetic Counselor who was a terrific lady, advised that Isabelle maybe mosaic given her lack of TS features (When they tested her for TS, they did not test Mosasism). The tell all will come at puberty whether she is, she advised us that Isabelle maybe be missing the Chromosone in her blood, but it maybe present in her tissue but that would require invassive testing & it is not warrented. THANKFULLY, everything checked out as it should. She was in & is in great health, no issues related to TS which was music to our ears. The only real issue was her tonsils & adnoids which have been removed and my goodness what a totally different child since that surgery! She eats and sleeps like a champ and can actually breathe and does not sound like a trucker at night! LOL
With all the testing that my princess has had to endure (which is nothing compared to what some living with TS have gone through or go through on a daily basis) this past few years, I am thankful for her everyday for her good health. She is a tiny miracle, she beat the pregnancy odds, she is a figher, she fought to be here! We continue to do routine followups to be sure that everything is good & it is, she is the 3rd percentile for the normal growth range and 75th in the TS growth range. She may require Growth Hormones starting at the age of 8 depending on if she starts to decline on the TS growth chart, but we are not there yet. This is the tough desicion that we will face & have been struggling with for a while. Our Endo's feel that they want her to wait, let her be a child and not have to do daily injections. It just does not seem fair to gain a few inches, we are okay with that and so is she at this point. If it means that being small is the worse thing, that is all cosmetic no biggy, being small is not a bad thing in fact it may even have some advantages at times! As time has past my "Guilt of failing my daughter" has faded. Some people at that time of dx, I found were like a weight tied to my ankle while trying to swim, I was never allowed to move on from the dx & I always left second guessing my decisions as a parent where Isabelle's health needs were concerned, I always told to get second opinions by the neh sayers after I would share good news from our appts at Family Doctors and Specialists at checkups. Everyone of her Doctors were apparently wrong that she was healthy according to bitter people having bad experiences! Which was so wrong what firends do that? Some never allowed me to heal or move on, days felt sad and lonely with them in my life! Tom and I both said at the time of her diagnoses we would find the best doctors to take care of her, and we did!! There is truly no ingnorance about TS in their offices, our doctors want to learn more about it, if they are unfamiler with it they research. But we have good Doctors that know about her condition which is fantastic. Our family GP has a friend with a little girl that has TS which is great. This was just not healthy to be around such negativity. I needed to sever ties there, since doing that I can breathe again! I can leave a good appointment now refreshed and not second guessing their checkups, I can share good news and not have to listen to the "Negativity and what ifs". If I can't trust my GP's then who can I trust? I found that some people prayed on others weakness' and that was what made them function.
I have found some truly remarkable friends that have little girls with TS, they have been a pillar of strength to me. Isabelle has made some close friendships with other girls that have TS which is great, because she knows she is not alone they have a special bond that no other can share! Their friendships with last a lifetime! I remind my sweet girl everyday that she is no different then any other little girl, she can do things others can do! Never let her size get her down, she can do everything others can do if not better. I find that she challenges herself daily and does not give up till she has got it, that is the fighter in her, she may be small but I tell you she is mighty with the biggest heart of anyone I know.
I think our biggest challenge that we will face and we will do so together as a family. Is explaining to her that she may never be able to have children of her own. That will break my heart & some days it still does! Every mother hopes that their little girls will be mothers of their own someday. But there are other ways to have a child these days and we will cross that bridge when we need to, still a long way away! I at one point wanted to harvest my eggs for when she is older but unless I want to be a Grandmother at 15 I am good (They only store then for 10 years). Isabelle at this age has dreams and ambitions like being a Pilot, Astronaut or a Palaeontologists. These career choices don't include children so I have been told, she also tels me that "having babies is gross & she does not want to have 8".. So at this point I think we can save the baby talk until she is ready! I will let my darling have a great childhood, experience life, learn, love and grow. We will take care of all her health needs and stuff as parents do best. We will always keep her best interest at heart and never let Turners Syndrome define who she is or have her be labeled. We take it day by day and do realize that things could change, but for now we live in the moment and will face the challenges as we need to! She is our darling angel & we are so happy that she choose us as her parents. We couldn't have asked for a more beautiful little girl to love & to love us back. We are very lucky parents to have her in our lives.
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| Thank you girls for teaching us to love unconditionally |
