How hypocalcemia due to 22q11.2 deletion syndrome effected us
My 11 year old has been taking a multi vitamin for as long as I can remember.
The most common reason to suspect 22q11.2DS (chromosome 22q11.2 deletion syndrome; DiGeorge syndrome [DGS]) is a cardiac anomaly, especially a conotruncal one. Neonatal hypocalcemia should also raise suspicion for this syndrome, especially if the hypocalcemia or heart defect is coupled with cleft palate
Even though Bella has hypocalcemia we tested her thyroid and she has a fully functional thyroid and no thyroid issues. I also do not have thyroid issues but we both had issues with hypocalcemia
My father and three half paternal sibling had issues with hypocalcemia as well. I had major issues with hypocalcemia while I was pregnant with Bella my levels dropped as low as 3. I had tremors and I would faint at some points I even turned bluish around my lips and my hands would cramp up so bad. Bella as a developing fetus was pulling the calcium from me while she was developing in the fetus stages. I should have been treated earlier at the first stages of my pregnancy I think that would have prevented the symptoms flaring up. Looking back in time. I feel that this experience sharing it might help someone else.
I have a genetic disorder called 22q11.2 deletion Digeorge syndrome as well. I have improved in the hypocalcemia symptoms but had no issues with my thyroid I been tested and everything was normal thyroid related. It was our t cells that was a little low but other then that we had improved and have no signs of hypocalcemia now.
I do have to watch for when Bella fully enters puberty we are just at the beginning stages and we will need to go back and see the Endocrinologist we took Bella to when she was much younger. That is going to be a visit we will do this summer. In order to stay on top of the syndrome it is important to know what to look out for and manage it one symptom at a time.
My daughter has a genetic condition called 22q11.2 deletion syndrome and hypocalcemia is not something that vitamin or amount of calcium enriched foods can help with but the added D vitamin does help absorb it.
When Bella was younger at birth young we had to give Bella a vitamin called Calcitriol which can treat low calcium and psoriasis. Bella was also put on a liquid iron called Fer In Sol which treated a low levels of ferrous sulfate. Ferrous sulfate is the storage of iron and when low causes leg cramps and sleep issues and a few other issues like passing out and all kinds of issues that you have to stay on top of. As long as these two are manage and treated both Bella and I do great. There are moments like when we develop a temp where we have to test the levels but that's basically how we have had to have our treatmetns done. We have not had to have a transfusion we are one of the lucky few. I think if I didn't know what to look out for that may be a possiablity we might have had to face. Passing out spells and seizure types and mental health kind of issues flair up when these two levels are at a danger zone low. I am not a doctor I'm not even a nurse I'm sharing this because I am refective upon Bella and how she is 11 now. A lot of the parents I mentor have have asked what helped us the most and I think this honestly has helped the most this manage level and treatment for the issues associated to hypocalcemia and having an open mind and not being so closed off and hushed about what we were experiencing I think helped. People have a stigma on us Adult who have 22q not understanding what it is truly like to live with it. Knowing my child will grow up to be a beautiful productive adult one day is my number one goal. Healthy happy children is what we all wish for and for the most part Bella and I are happy and healthy considering we could have been born with a much worst condition. We could be wheelchair bound, no eyes to see one another, no ears to hear each other we could have had heart issues but we had only the hypocalcemia and although sometimes the low level spells can be scary we can see hear and run up to each other for a hug after words and for that I am forever grateful we have 22q deletion
The treatment for this is a liquid calcium supplement that helped with the turning blue and purple it helped with the cramping of the hands and feet she had it basically saved her life having treatment for hypocalciuma. I am so glad that now all we have to use is a multi vitamin and that's because her iron does tend to get a little low. what 11 year old likes green leafy veggies?
I have had to get creative in iron and calcium sources we add to her diet but over all she is doing amazing. We do only yearly blood labs for calcium levels when she was younger we had to take her in to Helen devos in Grand Rapids Michigan every single week sometimes twice a week to poke the poor kid with a needle to draw her blood. Now she is 11 she walks into the lab smiles and says poke me with a butterfly needle looks away and takes a deep breath and sighs when it's all done. Bella say's she is a pro at blood work. I reflect back to the days of having to convince her to come out form behind the tables with bribery of snacks or toys to get her to get her blood work done. Now we walk in and walk out within minutes and not a tear in sight.
Bella has her 11 year check up and I'm reflective of all of the ups and downs we have had. A mom on facebook asked about hypocalcium and such but I thought I would share our personal experiences with hypocalciuma. When Bella was younger much younger and her calcium doped she would turn blue and tremmer with staring off into space spells. I'm so thankful we had the knowledge that I have 22q11.2 deletion Digeorge that I knew exactly what to expect and look out for. When Bella was born I urged the doctors to run the fish test and calcium draw. It's standard treatment for those of us who have this disorder but so many go years with out even knowing and then develop a ton of other issues mentally that could be prevented and avoided if treatment was started at birth
I'm grateful for our experiences and our journey although it hasn't always been easy we sure have come a long way.
I would love to hear about your experience with hypocalciuma in the comments below
Thanks so much for reading
have you had your poke yet?