So your baby was just diagnosed with Emanuel Syndrome......

....what do you do now?

First of all go to Chromosome 22 Central and contact Stephanie St.Pierre. Stephanie is the EXPERT on Emanuel Syndrome and many other chromosome 22 disorders. Her email address is on the site. The website has so much information and can direct you to other families and their stories online.

DISCLAIMER: I AM NOT A DOCTOR. I have some medical training but....

I am NOT A DOCTOR OR A NURSE.

The advice and information I am giving here is strictly based on what I have learned from being Makily's mommy. I will outline what we have experienced with her. Your child may not have the same issues we have had, although all of her severe medical conditions ARE IN FACT a result of having Emanuel Syndrome. While all the children have similar issues just like ANYONE ELSE they are ALL different in their own ways.

I encourage you to follow your doctor's advice for what is best for your child.



Emotionally

The emotional toll of hearing your child has Emanuel Syndrome is devastating. You will go through the stages of grief, many times. I pretty much skipped over the "denial" stage and went straight to anger and depression. Makily is almost four and I pretty much have accepted things....although I do slip back and forth at times. For me that first year of her life was the hardest. It's not a time in my life or Makily's that I would wish to repeat.

You may find yourself feeling and thinking things that scare or confuse you. I did this and after speaking with many other ES parents, they went through it too. Allow yourself to feel whatever you are feeling. Pushing it to the back of your mind will just make it worse and eventually it's all going to come out. I also suffered SEVERE PPD which was worsened by Makily's diagnosis AND all her many medical problems. According to WEDMD you are at higher risk for post partum depression if:

You have a lot of other stress in your life.

You have a sick or colicky baby.

Babies with Emanuel Syndrome typically are born sick AND many have gastrointestinal problems that often present much like colic. The combination of that and the diagnosis of Emanuel Syndrome can be a HUGE source of stress. To find out more about Post Partum Depression click here

My advice to Mom's if you think you may be suffering from PPD is to GET HELP AS SOON AS POSSIBLE! I fought it myself until Makily was eight weeks old. I was pumping my breast milk for her at the time and REFUSED to take any medication. It wasn't until I had a nervous breakdown that I decided I had to do something. I began taking medication and while it did not take all my problems away IT SAVED MY LIFE. Things were still hard but I was able to deal with my life better. I started to feel like a part of me was coming back again. I no longer felt like there was no light at the end of the tunnel.

Who are all these doctors?

Most Emanuel Syndrome babies have MANY medical issues that need to be addressed. You may find that you spend more times traveling to and from the doctor's office than you ever have in your life. The waiting room will become your second home. Makily came home from the NICU when she was a month old and we didn't truly know the extent of all of her medical problems until she was at least one. It IS CRUCIAL to have a pediatrician that is willing to research Emanuel Syndrome (ES) and learn all about it. Due to it's rarity 95% of the medical profession DOES NOT know anything about it. I have often times found myself educating the doctors of what Emanuel Syndrome is. It's just not something they see often and most likely they will never see it again.

Your baby is very rare and very special!

There are MANY body systems that can be affected by Emanuel Syndrome. For a complete list of possible problems CLICK HERE

My advice to ALL Emanuel Syndrome parents whether your baby is having symptoms or not is have both a Neurological and Cardiac consultation (along with whatever else your doctor has advised). Obviously the brain and heart are vital to one's survival and if their are any abnormalities with either, you should know about them early on.

Makily was born with what we thought was possibly just a tiny ASD. After two cardiologists, many EKG's and several echocardiograms it was determined she had two ASD's that needed to be repaired. She had a heart catheterization at age three. During the cath they found she didn't have just two ASD's...she had several (ya know like a piece of swiss cheese). Thankfully this was able to be repaired during the heart cath (click here to see video). My point to all that is that even though your child may not be showing any symptoms, something could be going on. It's best in my opinion to rule it out.

Makily did not show any signs of seizures or neurological problems (well other than developmental delay that goes along with ES). She was two years old before we had a neurological work up. She had other pressing problems and the neuro appt kept being pushed to the back burner. At the appt she had an EEG that came out fine. I was even proud when they told me that her EEG was "normal for a child of her age" and that her brain waves were not considered "slow". They scheduled a 48 hour EEG and an MRI for the following month just to be on the safe side. We were told it was just a precautionary measure and she seemed fine. Less than two days later Makily had her first (and so far only) massive seizure on my living room floor (click here to read about it). It was 3:15 am and I felt like the wind had been knocked out of me. She ended up in the PICU on a ventilator for three days. When we arrived at the hospital they preformed an MRI of her brain. It revealed a thin corpus collasum, mild hydrocephalus and mild cerebral atrophy (all of which are typical in ES kids). I was told that the combination of these three brain abnormalities put her at higher risk for seizure activity. They are still unable to tell me why she never had seized before that day and what caused the seizure to happen that day. She has been on medication for her seizures since June of 2006. Since starting the medication she has not had any seizures and her EEG's have all come back normal.

There are other organ systems that can be affected by Emanuel Syndrome I HIGHLY ENCOURAGE you to have whatever consultations your child's doctor advises.

PT, OT, SLP

WHAT THE HECK DOES ALL THAT MEAN!?

Physical therapy, occupational therapy and speech therapy.

Your child will likely need all three. Makily recieved therapy three days a week for the first 3 years of her life. That on top of all the doctors appointments had me running like a crazy woman (and I was/am a crazy woman). Most states offer Early Intervention (which your child SHOULD qualify for). It is a program for children with special needs and they pay for your child to receive therapy. Even if you have private insurance, typically they only cover a certain amount of therapy a year (ours is $2500). Once that is used up you would be left holding the bag for the remainder...that is where Early Intervention comes in. They will pick up where your insurance leaves off. If your child is getting three hours of therapy a week at $100 a pop that adds up to a total of $1200 a month which is VERY expensive. So I urge you to get in touch with your local Department of Children and Families and they should be able to direct you to Early Intervention in your area. I also urge you to get Medicaid for your child if you can. We applied and were turned down because we are only a family of three and our income was too high. Medicaid pays for SO MANY THINGS that your insurance will fight you tooth and nail on. I also encourage you to try and get Social Security for your child. We have applied once and were turned down (due to income) but I am going to apply again. For a while we did not want to apply for any help because our pride was getting in the way. Once we realized that we were only hurting ourselves and that state aid was MADE FOR CHILDREN with disabilities like Makily (although it's often used and given to others who need to go out and GET A JOB, don't get me started on that).

Things we have used that have helped Makily along the way.

The Bumbo Seat
**This helped Makily TREMENDOUSLY with her upper body strength and learning to sit up on her own.**

Ankle Foot Orthotics (AFO's)
These helped Makily to be able to weight bear on her feet. Her ankles are very weak and like to collapse without them.

Jumperoo
Makily would just kinda "hang out" in this at first but once she got the hang of it she REALLY enjoyed jumping in it. I hated it when she got too big to use it!

Squeaky Shoes!
These are the cutest shoes ever. They squeak when your child kicks their feet together, steps or pushes down with their feet. It's a great way to get them to want to stomp and use their legs. You can find them on ebay. Just search for "squeeky shoes".

The Neurosuit
This is a high tech suit that compresses the joints and different pressure points throughout the body. Makily was lucky enough to have one purchased for her from an amazing organization. They are pricey but it was less than six months of using it that Makily was taking steps with the Kaye walker and standing up.

Developmental Milestones for Makily
(keep in mind that Makily spent a total of three months in the hospital for the first year and a half of her life. She had four major surgeries during this time also.)

* Little smiles at four months.
(some parents have reported that it seemed their baby was "smiling with their eyes" before they got an all out grin, this is how it was with Makily)

*Cooing at four months and giggled

*Cooing and "talking back" in response to you five or six months

*Big grins and belly laughs at six months

*Sat by herself in a bumbo seat at 9 months

*Tripod sat at 16 months for a minute or two at a time.

* First tooth 18 months

*Sat independently for short periods at 19-20 months.

*Sitting independently indefinitly 24 months.

**Had her first modeling job 26 months
(okay I get it's not developmental but HEY can't a mamma brag!)

*Weight bearing on her feet WITH knee immobilizers, AFO's, Neurosuit and therapy ball in front of her at two and a half (30 months).

*Weight bearing with just AFO's and therapy ball 32 months

*Weight bearing with NO therapy ball, only holding your hands age three.

*Taking steps with help and with Kaye walker 38 months (age three and two months)

**as of 1-11-2008 this is a rough draft of this post. I will be adding to it in the coming weeks.**