Genetic Testing

Update Jan. 19- This week we met with Dr. Padesky, pediatrician, and Dr. Innis, geneticist.

At the pediatrician, Mae received her four month vaccinations and did very well with her physical exam, her eyes appear straight and focused, her head is strong (she’s a tummy time champ!), and she is meeting all milestones, up until this point. We should (hopefully) start to hear her laughing soon as she continues to smile, reach for toys, and keeps a close watch on her surroundings. She talks and coos constantly with the sweetest little voice that you have ever heard!

At U of M, Dr. Innis discussed Mae’s Turner’s Syndrome and appropriate follow-up care. The focus for her Turner’s right now revolves around vision and hearing assessments and cardiology- We are scheduled for a repeat hearing test (she passed one at birth) in April. In August, when Mae turns one, we will have another hearing test, a vision screen, and a cardiology consultation- she will continue these yearly. All indications so far have shown that Mae’s heart is healthy and fully functional- based on prenatal echocardiogram and assessments/scans from birth.

Working together with Dr. Steien, Mae’s genetics team decided that it would be best for us to explore whole exome genetic sequencing through a company called GeneDX. There is a 30% chance that the results from this test will point us in the right direction as to what is causing Mae’s malabsorption issues. However, that means there is a 70% chance that we will not learn anything relevant from the testing. Results will take 2-4 months and required blood work from Mae, Ryan, and I. The genetic test will look to examine/explore/and decode 20,000 of Mae’s genes (meaning, science is absolutely INCREDIBLE!) and IF they don't find anything then we will have her blood (and ours) retested in 14 months to look for new findings. There is a chance that we will find out about 'secondary findings' which are things not related to what is going on with her currently, but could present problems in the future. The whole process is slightly anxious filled, to say the least. Excitement and nervousness. But, as her parents, we feel that we have to do everything that we can, within our power, to try to figure out what is wrong so that we may pursue treatment options.

While we were at the hospital we ran into Beth, the geneticist from pregnancy (she is wonderful), we saw the palliative care nurse from the hospital admission, and we also saw the nurse who drew Mae's blood nearly everyday in the hospital. (She was SO happy to see us, gave me a hug, couldn't believe how big Mae is, how good she looks, etc...) It was a very full and rewarding day. Mae is definitely making an impact on everyone and for that we are grateful and encouraged. She is a  true miracle!!!

Prayers are appreciated (and needed) specifically for Mae’s MRI next Thursday. We are hopeful that the team will get good images of her brain so that we have accurate information related to her ventricles, cyst, and fluid levels.