DNA Tests

Tomorrow we are taking Erin to the Children's lab to have her blood drawn for the DNA tests for Rett Sydnrome. I have mixed emotions about it as you could imagine. I want the test done to get the clock ticking so we can get the results but I am also scared to death to find out.

If you are unfamiliar with Rett Syndrome imagine the symptoms of autism, cerebral palsy, Parkinson's, epilepsy, and anxiety disorders…all in one little girl - that is Rett and I was completely unfamiliar with it until recently.

As a woman over 35 I was always afraid of the chance of Down Syndrome and ironically Sean and I are of the mind set that we are grateful for whatever God gives us. We refused all screening tests like amnio and other tests because no matter what the child had we graciously accepted. I guess once I had my new baby in my arms and saw that all the fingers and toes are present I didn't think about whether she would make her developmental milestones, I was just happy she was here. I never thought we'd be facing something like this and regardless of the outcome I wouldn't change a thing. She is my precious child and she is the love of my life. My greatest fear is that she won't live a normal, happy life, get married or be able to have children. This disorder slowly takes all progress and speech your child has made and basically makes them helpless in their own bodies.

I can't believe this would be her fate and I am truly trying to "trust in God" but what if the answer is no...?
Praying like never before. It's my new hobby.

Genetic Testing for Erin

Last week we heard back from the insurance company that the 3 initial genetic tests we were waiting to have have been approved. We contacted the pediatric neurologist at Children's to let him know we want to go ahead with the tests. Once we hear back we can go and get these tests done. The outcome will tell us if our little angel has Rett Syndrome. If you are unfamiliar with Retts you can read about it here:http://www.rettsyndrome.org/about-rett-syndrome.html

We are praying it is not God's will for our little girl. Please pray with us! Thank you!

Special Needs Coordinator Visit @ Children's

October 22nd 2010
Today we had our visit with development services called complex care at Children's that I have been very much looking forward to. After checking in and sitting down I looked around the room at the other children. Children that were very severely handicapped and will never be out of the care of their parents or able to live on there own. Couldn't feed themselves, would never graduate from college, get a job, get married or be able to have children. Children in wheelchairs with trecs. This CAN'T be the right place for MY daughter! It just can't be. Erin, who looks perfectly normal, interacts with us, smiles, eats and sleeps well is not going to end up this handicapped. I just can't accept that outcome. I am still of the mind set that she will grow out of her development delays and then they send us to a place like this? It was a huge reality check/wake up call that I didn't want to let penetrate because then it's as if she really won't be that bad off. I still believe with enough prayers and time she will advance and be a normal kid.

We were called into the office and met someone who I think is going to be a very important part of our lives for the next few years. Dr. Laurie warmly greeted us and sat down and gave us a thorough interview regarding Erin and her developmental/medical history then proceeded to her physical exam. After everything was discussed she said she wanted to see how she progressed in the next 3 months and re-evaluate her progress. Once we saw how she advanced she would have a better idea/plan for Erin. I was happy with that outcome because if she sent us out with another list of doctor's to see that would've been worse than "ok, see you in 3 months!" So we go home and see how it goes!

Overall I was very pleased to meet someone who will finally help us navigate through this process with the best possible outcome and resources for Erin and our family. I feel hopeful and am optimistic about the future. Thank you Dr. Laurie! You are everything I hoped you would be and more!

Children's Hospital...again!

Tomorrow we have a visit with a special needs coordinator to discuss Erin's developmental delays and to see if we can get plugged into the system to get some help for her. I am actually looking forward to it. It's lonely having a child with developmental delays when all of your friends children are excelling and thriving. Don't get me wrong! I am very happy that they are, but they don't understand how upsetting it is to see your child roll around on the floor struggling to sit up flailing around from side to side and finally giving up because she relents.

Erin's Developmental Journey

I have started a medical journal for after each of Erin's Dr. appts. to keep everything in order for future appt.s with other specialist.
It's mostly for me but I'm posting it as notes to keep friends and family informed who are following Erin's progress.
September 30th, 2010
15 month Visit
Weight 19.65
Height 29"
After a very thorough 2 hour visit with Dr. A the following issues were discussed: Vaccines, global development, spit up, height, weight, head size; nutrition and potentially working with a special needs coordinator for possible support equipment to assist Erin.
Spit up: Her spit up is being contributed to her overall soft muscle tone so her esophagus muscle isn't closing as tight as it would if she had regular muscle tone. This is causing spit up especially upon position changing. Because she is not experiencing any aspiration, choking, discomfort they didn't find it concerning. Keeping her elevated as much as possible will help.
Vaccines: (Flu shot 1 of 2), Dip, Polio, Hib - follow up made for 2nd Flu shot in series.
Next visit in 3 months for 18 months appt.
Hips: Tomorrow we have an appt. at Holy Family to have her hips scanned for potential congenital hip disorder to rule that out. It's not an x-ray but more of a screening.
Nutrition: Dr. gave us a referral for a pediatric nutritionist; this is just informative and not a top priority at this time because her weight is perfect for her height so her spit up is not causing any kind of malnutrition.
Because she has more than one issue he recommended working with a special needs coordinator to help me keep everything in order. We will address this after Kate is born. Not top priority for this next month.
Neurology/Development: Erin's pediatric neurology appt. is Oct 5th at Children's in Boston followed by genetics in November. Dr. A. said to ask the pediatric neuro if they feel Erin could benefit in any special chairs/strollers to help with her lack of muscle tone.
Hopefully I won't be in labor or induced on the 4th otherwise my husband will be taking her on the 5th by himself because we had to wait 3 months for this appt. The only wrinkle will be if they want to induce on the 4th because then Sean won't be able to take her if I'm in mid labor. I will be really pushing for induction on the 5th so we don't have to miss her appt.
Happy that we have some more information, direction and potential options for her. God has given us this beautiful child to care for so I'm not letting this get me down. We will address all her needs as they come the best we can and continue to love and nurture this little angel to help her reach her full potential.
Prayers and continued support for Erin is always appreciated.