wolfhirschhorn.org

Greetings WHS Family,

As we have already made our 1st trimester update, we now will share with you all our Daughter, Madison (born Jul. 19, 2015) 2nd Trimester of life as her journey with WHS continues:
As parents, it’s an everyday learning process as having a 6 month old baby that’s basically a newborn in certain moments. It’s hard to assimilate that she is not reaching her milestones, but we have gotten over that and we have all her therapies in place to help her reach her goals.

Here is a synopsis of our journey at home for the 2nd Trimester:

4th Month:

Madison is a happy baby, and so far she is stable. She has received all of her vaccinations with no side effects of them. She weighs 9Lbs 6oz, her length is 22.5 inch long, and her head circumference is 14 inch.
She has gained great neck control and in the beginning phase of rolling.
Madison had her first fever and she was admitted in the hospital for 5 days. MUSC ran so many Labs and everything came back negative, but on the 4th day she was diagnosed with a Urinary tract infection. She was discharged with 10 days antibiotics.

5th Month: 
Madison’s health is stable, and we continue to do her regular routines with therapy and she started participating in swimming lessons.
On December 12th we took her to the aquarium where we met a special mom whose daughter has epilepsy. She explained to us what to look for and to look on YouTube for videos of the varieties of seizures activities.

1st Seizure

She was a godsend as 4 hours later when we were home, Madison started to have some jerky movements and they were increasing and coming more frequently. She was running a fever of 102, so we took her to the ER to discover that 19 minutes after being admitted in the ER, she had a grand mal seizure; This has never happened before. While holding Madison her eyes kept fluttering, her whole body started to shake, and then her eyes rolled back. After a few seconds, she just kept staring into space, but as she was recovering, they would start all over again. They gave her Ativan to calm the seizures and she was put on a continued EEG for 48 hours.
I am trying to stay calm and treat her as normally as possible, but at that moment I felt so afraid to let her out of my sight. I know it’s irrational, but I feel like if she is with me, I can keep things from happening. Is such a heart breaking moment for us to see our little girl in so much pain and don’t have the answers!
By the end of her hospital stay, they determined that she had febrile Seizures, a viral infection, and a possible UTI, but since she was already being treated with antibiotics, they send us home with no medications.

6th Months:
By her 6 month wellness check, she gained more weight. She is now 10Lbs 3oz, 24 inches long, and her head circumference is 14 in.
She had her vaccines and no fevers, but we discovered that the seizures had done so much to her little body that she mentally regressed back to a newborn. We had to start all over again so that she can gain back her neck control and be able to roll to her side.
By Jan 4th to Jan 8th we had to make another trip to the ER due to Seizures and Fever. She had another UTI, and we discovered that she has kidney reflux along with her CKD (chronic kidney disease) Stage III. Well, you all know how hard is it for the nurses to try getting an IV in our little ones. We feel like they are torturing our babies; especially when the veins keep blowing. I’m SO not happy but I know that she needs it. She was hooked back up to the EEG and the results came back normal. We were discharged with seizure medication and a daily antibiotic to prevent any infection due to her kidney reflux.
Once at home, we kept a more vigil eye on Madison and she does not sleep in her room alone anymore.
Things were normal for a couple of weeks until on Jan 28th, she started having seizures once more. We took her to the ER once again and they gave her a dose of Ativan and ordered an EEG. In the process of taking her to the room, she had a cluster of seizures (we counted 19) in the span of 2 minutes and as soon as we put her down, she lost consciousness. We called the nurse and the room was filled with Doctors and nurses! The pharmacy sent someone in the room who was controlling the dose of medication. For 25 minutes they kept trying to resuscitate her but at that moment, I lost it and had a nervous breakdown! I surely though we had lost our baby girl! She then was transferred to intensive care but we were not able to see or hear from her for 2 hours. During that 2 hour wait, the nurses would just come out and say they are trying to stabilize her. Finally, after what felt like forever, we were able to go in and see her! She was hooked up to an oxygen machine to help stabilize her breathing. Her oxygen levels kept dropping for the next few days. While running her EEG, the Neurologist finally said they will treat this as an epileptic seizure and they increased her dose and give us another daily seizure medication as well as a rescue kit in the event she has a seizure that last 5 minutes.

This month was our most challenging month! We got appointments and labs and these are the results of those appointments:
1. – Nephrologist: After getting labs done and talking to the Nephrologist team, they informed us that our baby girl has Cystic Dysplasia Of Both Kidneys and Chronic Kidney Disease Stage III. We were kind of prepared for this yet its still so devastating. Her labs are normal (well I mean there’s no change from the last test) so her doctor said she is stable and we’ll have to wait to see if there’s any changes in the next 3 months.
2- Genetics Specialist: Dr. Pai had lots of information; even some from the WHS org. site. While he examined Madison he told us to keep positive, that seizures are part of the syndrome, and in many case they are controlled and some kids outgrow them with change of life. He also told us what to expect and what should be our approach toward WHS and its symptoms. By the time we continue to her other appointments, we were more conscious of what to expect. We will keep seeing him every 6 months for now and the goal is to see him once a year.
3. – High Risk Pediatrician: The result is that Madison has HYPOTONIA (Poor muscle tone) and Congenital Microcephaly… This evaluation was very disappointing and I went home and cried for the rest of the day as it’s not easy to come to terms that your child had a regression due to seizures and that a person who is only seeing her for 40 minutes tells you that your 6 month old baby’s developmental milestones is just that of a 4 week old baby. She wrote the referrals for a Speech evaluation and to have her frenulum and lips clips.
4.- Audiologist: They redid Madison’s Hearing Screen and Determined that she has hearing loss in her right ear and good hearing in her left ear. No screening was done until she is able to sit in her own. We have to go back in 3 months.
5. – Oculist: After our last appointment, her result is Delay Visual Maturity. That is why our little girl has not started focusing on any object or being able to grasp objects. It’s just a matter of time before her vision kicks in. So we are back and they run the test and the result is Myopia of both eyes with astigmatism and Optic nerve hypoplasia of both eyes that could be corrected with time or with surgery. She is tracking objects and is nearsighted. Just keep working with her tracking and following. Eventually everything will have a coordination.

7.-Neurosurgeon: Due to a dimple on her lower back we were referred to the neurosurgeon as a suspicion of Tethered Spinal Cord. The first X-ray was inconclusive, but then we requested an MRI. The result is that she has multiple cysts on her spinal cord but it’s not considered a Tethered cord. She will be followed as she grows and if is affecting her reaching her milestones (standing or walking) they will consider a surgery to remove them.

By the end of her 6th month, Madison has gained weight and now she weighs 10Lbs 3oz, she’s 24 inches long, and drinks 3oz of breast milk in a bottle. She wearing 0 to 3 months and 3 to 6 months clothing and newborn shoes but they are a little big on her.
Our Second trimester has been nerve-wracking with the ups and downs and now having to deal with seizures activities, this has been so challenging! As parents we never know how much you could love your child until they have a crisis and you don’t know if they will make it; I felt my heart break into a million pieces and I just could not put it together. Once I was able hold Madison and the Drs reassured me she was stable, I felt right then, at that very moment, I learned to love and cherish each and every moment of her life as we are not clear what the outcome will be.
Our Baby girl keep teaching us so much about herself in this short time. Each day we read more and more to understand her condition and we continue tread her as she is a normal baby we read to her, play with her and show her each moment that we love her no matter what.

Thanks WHS family for allowing us to share her story and to all the parents that have shared their story we read a many of them as we can and we know we are not alone.
If you have any question regarding our baby girl and would like to see her videos and updates you can like her face book page: Madisons Milestone Development-in-her-WHS-journey

Thanks,

Brandon & Kenia Sergeant