The Most Precious Valentine

Update 2/14

The past few weeks have been stable, and relatively uneventful (medically) for Mae. She has enjoyed snow days with the boys and I, ventured out to church, is starting to make kissing sounds (thanks to Grandma Gayle) and is rolling all over the place! Her blood levels are normal and her nursing visits have been spaced out to every other week so that her TPN can be compounded based on what the bloodwork shows that she needs. She has tried (and accepted) two different kinds of meat- chicken and turkey. She does not 'love' either of them but we are working on increasing her amounts of each and fortunately she has not refused to eat them.

Ryan and I are taking care of her dressing changes which are becoming increasingly more difficult because she is moving like a maniac and grabbing at her cord/line every chance she gets! Although it makes everything more challenging, we are praising God for every movement, sound, smile, touch, eye contact, and roll that she does. The boys have been loving on their little sister more each day. Will is ready for her to talk and walk and Luke always makes sure that she gets her tummy time. Both of the boys are so proud of her, it is truly wonderful.

As is the case for all of us, each new day is definitely an adventure and we are embracing everything new and exciting that is happening in our family. We are thankful for all of the love and support. 

Thankful and blessed...

Update 1-26-18

Mae had her MRI yesterday and Ryan was able to be in the 'tube' with her while they got the necessary images. He gave her a bottle and she was swaddled up by the technicians so as to not move, Ryan said she did fantastic! Thank God! As a result, the radiologist was able to get good images of her brain.

After the MRI, Ryan, Dick, and Mae met with Dr. Garton, our neurologist, in the office to go over the images. Everything looks as though it is remaining stable and fluid levels have not increased! The cyst and her ventricles look good! Amazing news. While in the office, Mae showed off all of her special skills- Tummy time, rolling over, chewing on fingers, smiling, following objects, etc... Dr. Garton was pleased with her progress and said that she is doing great! He believes that she will crawl (Praise God) and that she will walk (Praise God!!) He said that he can see that her neurological pathways have formed because she is lifting her legs, rolling over, and trying to move. This is AMAZING news. She does have delays in some areas (Ex. shifting objects from one hand to the other hand) but this is due to her absent Corpus Collosum which controls and creates the pathways for those tasks. Overall, the appointment was very, very good with excellent and reassuring news.

Knowing that we are doing everything that we can for Mae is extremely gratifying, but, she, herself, is doing so many phenomenal things that the average person may take for granted. It is emotionally overwhelming, and difficult to put into words. She truly is a miracle. As it stands today, Mae is functioning, neurologically, at nearly the best case scenario.

Please know that Ryan and I are grateful for the prayers and support that we have received through this journey so far. We know that Mae's life will be full of more questions than answers, but, yesterday was a great day and a huge step forward for her and our family!

"I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well." Psalm 139:14

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.

Appointment Update

Jan. 11- Mae’s appointment at U of M yesterday went well. The CHIRP (Children’s Intestinal Rehabilitation) team is very pleased with her growth and progress. They wanted to see her gaining an average of 15-21 grams per day and although she is on the low end of weight gain with 15 grams per day, she is still in the desired window. Her weight is in the 53rd percentile and her length is in the 47th percentile. Ryan and I will continue to monitor her weight at home, for now, to see that she is gaining appropriately. Her next appointment with Dr. Steien and the team will be in mid-March. For now, her TPN will remain the same (6:00pm to 6:00am).

We have been given the go ahead to start feeding her non-carbohydrate foods. Mae’s first foods will consist of meat purees. The dietician on the CHIRP team will be in contact with us for other options, which may include: avocados, oatmeal, etc... None of her options will contain carbohydrates and we will be in close contact with the team as this new phase of food introduction starts. We are excited at this step forward and hope to begin experimenting with a spoon and feeding.

Appointments, thanks, and pictures!

Update: January 9

Mae has a busy month coming with appointments for her intestinal rehabilitation (Dr. Steien), genetics (Dr. Innis), neurology (Dr. Garton), and pediatric care (Dr. Padesky). She will be having an MRI on Thursday, the 25th, to examine her brain growth, cyst size, and ventricular size. With all of our attention lately focused on the issues related to her malabsorption, we are hopeful that the fluid in her brain has remained stable or reduced.

The holiday break was fantastic and we were able to enjoy Christmas at home, as a family. We are so thankful for everyone who has continually kept us in their prayers, offered help when needed, sent meals to the house, and just genuinely shown us that Mae is truly a miracle. As we progress through Mae's appointments, we will give updates. Ryan and I are beyond appreciative of the support that we have received and continue to receive. The saying 'it takes a village' could not be more applicable or true. We know that God is good and we are so blessed.

'Tis the Season

Update: 12/19/17

Today is our eight year wedding anniversary! Life is good and we are so lucky to have each other!

Last night we took Will, Luke, and Mae to see Santa at the mall and everyone cooperated! Thought we'd share pictures of the fun!

Celebration and donuts!

Update 12-15-17

Mae's appointment at U of M went well on Wednesday. (Unfortunately, Ryan and her got stuck in the snow storm and it took them four and a half hours to get home! Thank God they arrived safely.) The doctors on Mae's intestinal rehabilitation team are pleased with her progress and weight gain. They made minimal changes to her daily routine. She will remain on her dosage of TPN until further notice, but, her fructose allotment of formula has increased by 1 oz. She is continuing to show great neurological signs with social smiles, tracking objects, and eye contact. She is truly amazing! Mae will be following up with all of her specialists at U of M in January- Dr. Garton with neurology, the intestinal rehabilitation team and Dr. Steien, genetics, and our pediatrician, Dr. Pedasky in St. Clair Shores. (January will be a busy month full of appointments.)

On Sunday, we will celebrate Mae's baptism at church in front of all of the wonderful, thoughtful, and caring members at Immanuel Lutheran who have kept us in their prayers and close to their hearts. We are looking forward to this beautiful day.

Going forward, prayers specifically for Mae's continued weight gain and neurological growth are so appreciated. 'Before I formed you in the womb I knew you, before you were born I set you apart.' Jeremiah 1:5 Mae is a miracle and she has been set apart, we are blessed to be her parents.

On a side note, our scout elf, Captain John, has been keeping a close eye on Will and Luke as Christmas approaches! He delivered donuts to the boys one morning this week!